HPO disease phenotype (7,342)

Gene set Name	Definition	Number of genes
1-2 toe syndactyly	Syndactyly with fusion of toes one and two.	3
11 pairs of ribs	Presence of only 11 pairs of ribs.	49
2-3 finger cutaneous syndactyly	A soft tissue continuity in the anteroposterior axis between the second to the third fingers that extends distally to at least the level of the proximal interphalangeal joints.	11
2-3 toe syndactyly	Syndactyly with fusion of toes two and three.	90
2-4 finger cutaneous syndactyly	A soft tissue continuity in the anteroposterior axis between the second (index) to the fourth (ring) finger that extends distally to at least the level of the proximal interphalangeal joints.	5
2-4 toe cutaneous syndactyly	A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4.	5
2-4 toe syndactyly	Syndactyly with fusion of toes two to four.	3
2-5 finger cutaneous syndactyly	A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints.	4
2-hydroxyglutarate aciduria	The concentration of 2-hydroxyglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.	5
3-4 finger cutaneous syndactyly	A soft tissue continuity in the A/P axis between fingers 3 and 4.	17
3-4 finger osseus syndactyly	Fusion of the third (middle) and fourth (ring) finger, involving soft parts and including fusion of individual finger bones.	5
3-4 toe syndactyly	Syndactyly with fusion of toes three and four.	7
3-Methylglutaconic aciduria	An increased amount of 3-methylglutaconic acid in the urine.	24
3-Methylglutaric aciduria	An abnormally increased level of 3-hydroxy-3-methylglutaric acid in the urine.	5
3-hydroxydicarboxylic aciduria	The concentration of 2-hydroxydicarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal.	3
3-hydroxyisovaleric aciduria	Concentration of 3-hydroxyisovaleric acid in the urine above the normal range.	4
4-5 finger cutaneous syndactyly	A soft tissue continuity in the anteroposterior axis between the fourth (ring) to the fifth (little) finger that extends distally to at least the level of the proximal interphalangeal joints.	5
4-5 toe syndactyly	Syndactyly with fusion of toes four and five.	13
4-Hydroxyphenylpyruvic aciduria	Increased relative concentration of 4-hydroxyphenylpyruvic acid in the urine.	3
4-layered lissencephaly	A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development. At neuropathological examination, a 4-layered cortex consists of an upper molecular layer, a second thin cellular layer containing pyramidal neurons usually observed in layer V, a third pale poorly cellular layer and a fourth thick deep layer made up of neurons which had failed to migrate. Radiologocally would manifest as agyria or pachygyria with cortical thickness greater than 10 mm.	3
AA amyloidosis	Extracellular tissue deposition of fibrils that are composed of fragments of and/or intact serum amyloid A protein, a hepatic acute phase reactant.	16
AV nodal tachycardia	A type of supraventricular tachycardia that originates in the atrioventricular node.	6
Abdominal aortic aneurysm	An abnormal localized widening (dilatation) of the abdominal aorta.	24
Abdominal colic	A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity.	5
Abdominal cramps	A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity.	8
Abdominal distention	Distention of the abdomen.	150
Abdominal mass	An abnormal enlargement or swelling in the abdomen.	17
Abdominal obesity	Excessive fat around the stomach and abdomen.	32
Abdominal organ duplication	A congenital malformation characterized by the development of an additional organ or organ-like structure, i.e., an extra copy of the organ normally located in the abdomen.	49
Abdominal situs ambiguus	An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements.	4
Abdominal situs inversus	A left-right reversal (or mirror reflection) of the anatomical location of the viscera of the abdomen.	18
Abdominal wall muscle weakness	Decreased strength of the abdominal musculature.	17
Abducens palsy	Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia.	12
Ablepharon	Absent eyelids.	5
Abnorma vestibulocochlear nerve morphology	Any structural anomaly of the vestibulocochlear nerve. The vestibulocochlear nerve consists of the vestibular and cochlear nerves, also known as cranial nerve eight (CN VIII). Each nerve has distinct nuclei within the brainstem. The vestibular nerve is primarily responsible for maintaining body balance and eye movements, while the cochlear nerve is responsible for hearing.	13
Abnormal 1st metacarpal morphology	A structural anomaly of the first metacarpal.	40
Abnormal 2nd finger morphology	An anomaly of the second finger, also known as the index finger.	43
Abnormal 2nd metacarpal morphology	Any abnormality of the second metacarpal bone.	6
Abnormal 3rd finger morphology	An anomaly of the third finger.	26
Abnormal 3rd finger phalanx morphology	Abnormality of the phalanges of the 3rd (middle) finger.	7
Abnormal 3rd metacarpal morphology	Any abnormality of the third metacarpal bone.	5
Abnormal 4th finger phalanx morphology	Abnormality of the phalanges of the 4th (ring) finger.	4
Abnormal 4th metacarpal morphology	Any abnormality of the fourth metacarpal bone.	23
Abnormal 5th finger phalanx morphology	Abnormality of the phalanges of the 5th (little) finger.	58
Abnormal 5th metacarpal morphology	Any abnormality of the fifth metacarpal bone.	22
Abnormal B cell count	A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells.	98
Abnormal B cell morphology	A structural abnormality of B cells.	103
Abnormal Bowman capsule morphology	A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule.	11
Abnormal CD4+CD25+ regulatory T cell proportion	A deviation from the normal proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.	4
Abnormal CD4:CD8 ratio	Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes.	19
Abnormal CSF amino acid concentration	Any deviation from the normal concentration of amino acids in the cerebrospinal fluid.	25
Abnormal CSF aspartate family amino acid concentration	Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid.	3
Abnormal CSF carboxylic acid concentration	Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid.	29
Abnormal CSF glucose concentration	A deviation from normal concentration of glucose content in the cerebrospinal fluid.	6
Abnormal CSF glutamine family amino acid concentration	Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid.	3
Abnormal CSF glycine concentration	Any deviation from the normal concentration of glycine in the cerebrospinal fluid.	8
Abnormal CSF homovanillic acid concentration	Any deviation from the normal concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.	10
Abnormal CSF lactate concentration	Abnormal concentration of lactate in the cerebrospinal fluid.	116
Abnormal CSF metabolite concentration	Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid.	168
Abnormal CSF protein concentration	Any deviation from the normal range of a protein concentration in the cerebrospinal fluid.	61
Abnormal CSF pyruvate family amino acid concentration	Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid.	7
Abnormal CSF serine family amino acid concentration	Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid.	8
Abnormal DLCO	An abnormal amount of oxygen passes into the blood from the lungs and/or an abnormal amount of carbon dioxide passes from the blood into the lungs.	26
Abnormal Descemet membrane morphology	Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium.	14
Abnormal EKG	Abnormal rhythm of the heart.	136
Abnormal Eustachian tube morphology	A structural anomaly of the Eustachian tube (ET). The ET is a biomechanical valve between the nasopharynx and the middle ear. Physiologically, it controls the passive adaptation of the middle ear air pressure to the ambient air pressure primarily via direct muscular actions of the soft palate. In the closed state it protects the middle ear. Inadequate function of the ET causes middle ear ventilation disorders.	5
Abnormal HDL cholesterol concentration	Any deviation from the normal concentration of high-density lipoprotein cholesterol (HDL) in the blood.	61
Abnormal Intonation	Abnormal rise and fall of the voice in speech and vocalization for the context and cultural situation.	68
Abnormal LDL cholesterol concentration	Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation.	44
Abnormal MHC II surface expression	A deviation from the normal level of major histocompatibility complex class II molecules expressed at the cell surface.	4
Abnormal P wave	Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria.	6
Abnormal PR interval	An anomaly of the PR interval, which is the portion of the ECG from the onset of the P wave to the beginning of the QRS complex. A normal PR interval in adults is 0.12-0.2 seconds.	20
Abnormal QRS complex	An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram.	11
Abnormal QRS voltage	Abnormal amplitude of the QRS complex of the electrocardiogram (EKG).	3
Abnormal QT interval	Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).	64
Abnormal ST segment	An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment.	39
Abnormal Sharpey fiber morphology	An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibers connecting periosteum to bone.	33
Abnormal T cell activation	Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.	9
Abnormal T cell count	A deviation from the normal count of T cells.	117
Abnormal T cell morphology	An abnormality of T cells.	121
Abnormal T cell proliferation	Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population.	16
Abnormal T cell subset distribution	Any abnormality in the proportion T cells subsets relative to the total number of T cells.	79
Abnormal T-wave	An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles.	37
Abnormal TSH response to thyrotrophin-releasing hormone stimulation test	Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesized by, stored within, and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal response in the TRH stimulation test.	4
Abnormal U wave	An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3.	5
Abnormal VLDL cholesterol concentration	Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood.	4
Abnormal Z disk morphology	Any structural anomaly of the Z disk, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached.	9
Abnormal acetabulum morphology	An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint.	90
Abnormal activity of mitochondrial respiratory chain	An increased or decreased activity of the mitochondrial respiratory chain.	146
Abnormal adiponectin level	A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism.	5
Abnormal adipose tissue morphology	An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes.	250
Abnormal adrenal morphology	Any structural anomaly of the adrenal glands.	118
Abnormal alcohol consumption	Alcohol abuse or dependence.	27
Abnormal alpha granules	Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury.	5
Abnormal alveolar ridge morphology	Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth.	48
Abnormal alveolar type II pneumocyte morphology	Any structural abnormality of alveolar type 2 (ATII) cells.	3
Abnormal anatomic location of the heart	Developmental defect characterized by an anomalous anatomic location of the heart.	142
Abnormal ankle morphology	A structural anomaly of the ankle.	100
Abnormal ankle physiology	A functional anomaly of the ankle.	72
Abnormal anterior chamber morphology	Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris.	60
Abnormal anterior fontanelle morphology	An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures.	136
Abnormal anterior horn cell morphology	Any anomaly of the anterior horn cell.	22
Abnormal antihelix morphology	An abnormality of the antihelix.	42
Abnormal antitragus morphology	An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch.	10
Abnormal antral follicle count	Any deviation from a count of antral follicles that is normal for age. Antral follicles appear as small fluid-filled sacs that contain an immature egg. Antral follicle count can be measured (usually on day 2-5 of the menstrual cycle) by transvaginal ultrasound. The number of antral follicles may reflect ovarian reserve.	3
Abnormal anus morphology	A structural anomaly of the anus.	222
Abnormal aortic arch morphology	An anomaly of the arch of aorta.	67
Abnormal aortic valve cusp morphology	Any structural anomaly of the aortic valve leaflets.	119
Abnormal aortic valve morphology	Any abnormality of the aortic valve.	176
Abnormal arachnoid mater morphology	An abnormality of the Arachnoid mater.	59
Abnormal areolar morphology	An abnormal appearance or structure of the ring of pigmented skin that surrounds the nipple.	3
Abnormal arm span	A deviation from normal of the length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle)	11
Abnormal arterial physiology	An anomaly of arterial function.	181
Abnormal ascending aorta morphology	Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise.	27
Abnormal astrocyte morphology	An abnormality of astrocytes.	46
Abnormal atrial arrangement	Abnormality of the spatial relationship of the atria to other components of the heart.	49
Abnormal atrioventricular conduction	An impairment of the electrical continuity between the atria and ventricles.	98
Abnormal atrioventricular connection	An abnormality of the circulatory connection between atria and ventricles.	16
Abnormal atrioventricular valve morphology	An abnormality of an atrioventricular valve.	183
Abnormal atrioventricular valve physiology	Any functional defect of the mitral or tricuspid valve.	209
Abnormal auditory canal morphology	Any structural abnormality of the external acoustic tube (also known as the auditory canal).	94
Abnormal auditory evoked potentials	An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex.	27
Abnormal autonomic nervous system morphology	A structural abnormality of the autonomic nervous system.	150
Abnormal autonomic nervous system physiology	A functional abnormality of the autonomic nervous system.	129
Abnormal axonemal organization of respiratory motile cilia	Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms.	4
Abnormal basal ganglia MRI signal intensity	A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia.	39
Abnormal basal ganglia morphology	Abnormality of the basal ganglia.	189
Abnormal basophil count	Any deviation from the normal number of basophils per volume in the blood circulation.	5
Abnormal basophil morphology	Any structural abnormality or abnormal count of basophils.	8
Abnormal biliary tract morphology	A structural abnormality of the biliary tree.	93
Abnormal bladder morphology	Any structural anomaly of the bladder.	77
Abnormal blistering of the skin	The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.	115
Abnormal blood carbon dioxide level	An abnormality of carbon dioxide (CO2) in the arterial blood.	14
Abnormal blood chloride concentration	An abnormality of chloride homeostasis or concentration in the body.	12
Abnormal blood folate concentration	Any deviation from the normal concentration of folate in the blood circulation.	11
Abnormal blood gas level	An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood.	53
Abnormal blood inorganic cation concentration	An abnormality of divalent inorganic cation homeostasis.	193
Abnormal blood monovalent inorganic cation concentration	An abnormality of monovalent inorganic cation homeostasis.	153
Abnormal blood oxygen level	An abnormality of the partial pressure of oxygen in the arterial blood.	48
Abnormal blood phosphate concentration	An abnormality of phosphate homeostasis or concentration in the body.	73
Abnormal blood potassium concentration	An abnormal concentration of potassium.	113
Abnormal blood sodium concentration	An abnormal concentration of sodium.	70
Abnormal blood transition element cation concentration	An abnormality of the homeostasis (concentration) of transition element cation.	45
Abnormal blood urea nitrogen concentration	Any deviation from the normal concentration of urea nitrogen in the blood.	25
Abnormal blood zinc concentration	An abnormality of zinc ion homeostasis.	7
Abnormal bone marrow cell morphology	An anomaly of the form or number of cells in the bone marrow.	226
Abnormal bowel sounds	An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis.	10
Abnormal brain FDG positron emission tomography	An anomaly detectable in -fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity.	23
Abnormal brain N-acetyl aspartate level by MRS	A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).	21
Abnormal brain choline level by MRS	A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).	9
Abnormal brain lactate level by MRS	A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).	43
Abnormal brain positron emission tomography	A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain.	23
Abnormal brain-evoked potentials	Any anomaly of brain-evoked potentials, defined as potentials generated by exteroceptive stimuli reflect synchronized activity by neuronal and axonal groups in the central nervous system (CNS) resulting from the arrival of nerve impulses after stimulation of a peripheral nerve or its receptors. Depending on the type of stimulus, evoked potentials are categorized as visual (VEP), auditory (AEP), or somatosensory (SSEP). Motor evoked potentials (MEP) occur when the brain's motor area is stimulated. They result from the activation of a sufficient number of motor units.	108
Abnormal brainstem MRI signal intensity	A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem.	40
Abnormal brainstem morphology	An anomaly of the brainstem.	280
Abnormal brainstem white matter morphology	An anomaly of the white matter of brainstem.	16
Abnormal branching pattern of the aortic arch	A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries.	29
Abnormal breast physiology	Any anomaly of the function of the breast.	10
Abnormal breath sound	An anomalous (adventitious) sound produced by the breathing process.	127
Abnormal bronchoalveolar fluid protein level	Any deviation from the normal concentration of protein in the bronchoalveolar fluid.	3
Abnormal bronchoalveolar lavage fluid morphology	Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions.	18
Abnormal bronchus morphology	Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs.	208
Abnormal bronchus physiology	Any anomaly of the function of the bronchi.	25
Abnormal capillary physiology	A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.	10
Abnormal cardiac biomarker test	Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes.	6
Abnormal cardiac exercise stress test	Abnormal results of exercise on heart function.	19
Abnormal cardiac test	Abnormal test result of cardiovascular physiology.	24
Abnormal cardiac ventricular function	An abnormality of the cardiac ventricular function.	172
Abnormal cardiomyocyte morphology	Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue.	16
Abnormal carotid artery morphology	Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches.	92
Abnormal carpal morphology	An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate).	91
Abnormal cartilage morphology	Any morphological abnormality of cartilage.	46
Abnormal caudate nucleus morphology	Any structural abnormality of the caudate nucleus.	25
Abnormal cell morphology	Any anomaly of cell structure.	42
Abnormal cell proliferation	Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population.	43
Abnormal cellular composition of bronchoalveolar fluid	Deviation from the commonly in healthy people observe cellular distribution. Normal ranges are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5%.	10
Abnormal central sensory function	An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord.	13
Abnormal cerebellar cortex morphology	Any structural anomaly of the cortex of the cerebellum.	5
Abnormal cerebellar peduncle morphology	An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum.	15
Abnormal cerebral artery morphology	Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery.	80
Abnormal cerebral vein morphology	An anomaly of cerebral veins.	9
Abnormal cervical curvature	The presence of an abnormal curvature of the cervical vertebral column.	12
Abnormal cervical spine morphology	Any morphological abnormality of the cervical vertebral column.	22
Abnormal change in sexual drive	An abnormal change in libido (sexual desire), typically accompanied by an altered frequency of sexual activity compared to from a person's previous norm.	5
Abnormal change in social behavior	An alternation in the habits and emotional tendencies of an individual with a change in behavior that is typically noticed by family members or peers.	6
Abnormal cheek morphology	'An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. \''Buccal\'' means relating to the cheek. The cheek is part of the midface'	275
Abnormal choanae morphology	Abnormality of the choanae (the posterior nasal apertures).	132
Abnormal chorioretinal morphology	An abnormality of the choroid and retina.	166
Abnormal choroid morphology	Any structural abnormality of the choroid.	203
Abnormal choroid plexus morphology	An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells.	18
Abnormal chromosome morphology	Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order.	14
Abnormal chylomicron concentration	Any deviation from the normal circulating concentration of chylomicrons.	4
Abnormal ciliary body morphology	A structural anomaly of the ciliary body.	6
Abnormal ciliary motility	Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions.	30
Abnormal circle of Willis morphology	An anomaly of the circle of Willis, also known as the cerebral arterial circle.	6
Abnormal circulating B-type natriuretic peptide concentration	A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP).	9
Abnormal circulating C-peptide concentration	An anomalous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion.	27
Abnormal circulating C-reactive protein concentration	Any deviation from the normal concentration of C-reactive protein in the blood circulation.	84
Abnormal circulating GABA concentration	Any deviation from the normal concentration of gamma-aminobutyric acid (GABA) in the blood circulation.	6
Abnormal circulating IgA concentration	An abnormal deviation from normal levels of IgA immunoglobulin in blood.	121
Abnormal circulating IgE concentration	An abnormal deviation from normal levels of IgE immunoglobulin in blood.	51
Abnormal circulating IgG concentration	An abnormal deviation from normal levels of IgG immunoglobulin in blood.	125
Abnormal circulating IgM concentration	An abnormal deviation from normal levels of IgM immunoglobulin in blood.	110
Abnormal circulating T4 concentration	A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).	26
Abnormal circulating acylcarnitine concentration	Any deviation from the normal concentration in the blood circulation of an acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.	23
Abnormal circulating adrenocorticotropin concentration	An abnormal concentration of corticotropin in the blood.	44
Abnormal circulating alanine concentration	An abnormality of an alanine metabolic process.	68
Abnormal circulating albumin concentration	Deviation from normal concentration of albumin in the blood.	116
Abnormal circulating aldolase concentration	An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate.	26
Abnormal circulating alpha-fetoprotein concentration	Concentration of alpha-fetoprotein in the blood circulation outside normal limits.	32
Abnormal circulating amino acid concentration	The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation.	177
Abnormal circulating amylase concentration	A deviation from the normal concentration of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.	6
Abnormal circulating androgen level	An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.	98
Abnormal circulating androstenedione concentration	Any deviation from the normal concentration of androstenedione in the blood circulation.	11
Abnormal circulating antimullerian hormone concentration	Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases.	11
Abnormal circulating apolipoprotein concentration	A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation.	9
Abnormal circulating arginine concentration	Any deviation from the normal concentration of arginine in the blood circulation.	10
Abnormal circulating aromatic amino acid concentration	Any deviation from the normal concentration of a aromatic amino acid in the blood circulation.	18
Abnormal circulating aspartate family amino acid concentration	Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation.	23
Abnormal circulating atrial natriuretic peptide pro-hormone concentration	The concentration in the blood circulation of atrial natriuretic peptide pro-hormone or one of its processed fragments is outside of the range of normal.	9
Abnormal circulating beta globulin level	A deviation from the normal concentration of beta globulin. The beta globulins are a group of globular (globe-shaped) proteins in blood.	8
Abnormal circulating beta-C-terminal telopeptide concentration	A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover.	5
Abnormal circulating branched chain amino acid concentration	Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation.	10
Abnormal circulating calcitonin concentration	Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation outside of normal limits.	22
Abnormal circulating calcium concentration	Any deviation from the normal concentration of calcium in the blood circulation.	172
Abnormal circulating calcium-phosphate regulating hormone concentration	Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium.	53
Abnormal circulating carbohydrate concentration	A deviation from the normal concentration of a carbohydrate in the blood circulation.	73
Abnormal circulating carnitine concentration	Any deviation from the normal concentration of carnitine in the blood circulation.	23
Abnormal circulating ceruloplasmin concentration	Any deviation of the concentration of ceruloplasmin in the blood from the normal range.	11
Abnormal circulating cholesterol concentration	Any deviation from the normal concentration of cholesterol in the blood circulation.	161
Abnormal circulating citrulline concentration	Any deviation from the normal concentration of citrulline in the blood circulation.	25
Abnormal circulating copper concentration	An abnormal concentration of copper.	13
Abnormal circulating corticosterone level	An abnormality of the concentration of corticosterone in the blood.	4
Abnormal circulating creatine concentration	A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarily for muscle cells.	11
Abnormal circulating creatinine concentration	An abnormal concentration of creatinine in the blood.	57
Abnormal circulating cysteine concentration	An abnormality of a cysteine metabolic process.	3
Abnormal circulating cytokine concentration	Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells.	47
Abnormal circulating dehydroepiandrosterone concentration	A deviation from the normal concentration of dehydroepiandrosterone in the circulation.	15
Abnormal circulating dicarboxylic acid concentration	Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation.	157
Abnormal circulating eicosanoid concentration	Any deviation from the normal concentration in the blood circulation of an icosanoid (also known as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid).	4
Abnormal circulating erythropoietin concentration	Any deviation from the normal concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.	3
Abnormal circulating estrogen level	A deviation from normal concentration of the hormone estrogen in the blood circulation.	63
Abnormal circulating fatty-acid anion concentration	Any deviation from the normal concentration of a fatty acid anion in the blood circulation.	42
Abnormal circulating fatty-acid concentration	A deviation from the normal concentration of a fatty acid in the blood circulation.	76
Abnormal circulating ferritin concentration	A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma.	51
Abnormal circulating follicle-stimulating hormone concentration	An anomaly of the circulating level of follicle-stimulating hormone (FSH).	89
Abnormal circulating free T3 concentration	A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3.	7
Abnormal circulating free T4 concentration	A deviation from the normal concentration of free thyroxine (T4) in the blood circulation. Circulating T4 is almost entirely bound to specific transport proteins such as thyroxine-binding globulin (TBG) but it is the unbound (free) fraction that is able to enter tissues and exert effects.	10
Abnormal circulating free fatty acid concentration	Any deviation from the normal concentration of a free fatty acid in the blood circulation.	10
Abnormal circulating gastrin concentration	An abnormal concentration of gastrin in the blood.	6
Abnormal circulating globulin concentration	An abnormal concentration of globulins in the blood. Albumin makes up more than half of the total protein present in serum. The remaining blood proteins except albumin and fibrinogen (which is not in serum) are referred to as globulins. The globulin fraction includes hundreds of serum proteins including carrier proteins, enzymes, complement, and immunoglobulins. Most of these are synthesized in the liver, although the immunoglobulins are synthesized by plasma cells. Globulins are divided into four groups by electrophoresis. The four fractions are alpha1, alpha2, beta and gamma, depending on their migratory pattern between the anode and the cathode.	14
Abnormal circulating glutamate concentration	Any deviation from the normal concentration of glutamate in the blood circulation.	3
Abnormal circulating glutamine concentration	Any deviation from the normal concentration of glutamine in the blood circulation.	12
Abnormal circulating glutamine family amino acid concentration	Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation.	32
Abnormal circulating glycine concentration	Any deviation from the normal concentration of glycine in the blood circulation.	30
Abnormal circulating gonadotropin concentration	An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).	128
Abnormal circulating haptoglobin concentration	A deviation from the normal concentration of haptoglobin in the blood circulation.	16
Abnormal circulating hepcidin concentration	Any deviation from the normal concentration of hepcidin in the blood circulation.	4
Abnormal circulating histidine concentration	An abnormality of a histidine metabolic process.	4
Abnormal circulating homocysteine concentration	An abnormality of a homocysteine metabolic process.	17
Abnormal circulating immunoglobulin concentration	An abnormal deviation from normal levels of immunoglobulins in blood.	289
Abnormal circulating inhibin B concentration	The concentration of inhibin B in the blood circulation is outside the limits of normal.	6
Abnormal circulating inhibin level	Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone.	6
Abnormal circulating insulin concentration	An abnormal concentration of insulin in the body.	158
Abnormal circulating interferon concentration	The concentration of an interferon is outside the limits of normal.	25
Abnormal circulating interferon-gamma concentration	Abnormal levels of interferon gamma measured in the blood circulation.	25
Abnormal circulating interleukin 10 concentration	Any deviation from the normal range of the concentration of interleukin 10 in the blood circulation.	6
Abnormal circulating interleukin 6 concentration	Any deviation from the normal range of the concentration of interleukin 6 (IL-6) in the blood circulation.	18
Abnormal circulating interleukin concentration	The concentration of an interleukin (a class of cytokines) is outside the limits of normal.	36
Abnormal circulating iron concentration	The concentration of iron in the blood circulation is outside the limits of normal.	21
Abnormal circulating isoleucine concentration	Any deviation from the normal concentration of isoleucine in the blood circulation.	6
Abnormal circulating lactate dehydrogenase concentration	A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate.	100
Abnormal circulating leptin concentration	An abnormal concentration of leptin in the blood.	13
Abnormal circulating leucine concentration	Any deviation from the normal circulation of leucine in the blood circulation.	7
Abnormal circulating long-chain fatty-acid concentration	Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation.	19
Abnormal circulating luteinizing hormone concentration	An anomaly of the circulating level of luteinizing hormone (LH).	77
Abnormal circulating lysine concentration	Any deviation from the normal concentration of lysine in the blood circulation.	5
Abnormal circulating methionine concentration	Any deviation from the normal concentration of methionine in the blood circulation.	16
Abnormal circulating monocarboxylic acid concentration	Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation.	73
Abnormal circulating nitrogen compound concentration	Any deviation from the normal concentration of a nitrogen compound in the blood circulation.	179
Abnormal circulating non-proteinogenic amino acid concentration	Any deviation from the normal concentration in the blood circulation of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.	36
Abnormal circulating nucleobase concentration	An abnormality of a nucleobase metabolic process.	47
Abnormal circulating ornithine concentration	Deviation from the normal concentration of ornithine in the blood circulation.	5
Abnormal circulating osteocalcin level	A deviation from the normal concentration of osteocalcin in the blood circulation.	9
Abnormal circulating phenylalanine concentration	Any deviation from the normal concentration of phenylalanine in the blood circulation.	9
Abnormal circulating phytanic acid concentration	Any deviation from the normal concentration of phytanic acid in the blood circulation.	16
Abnormal circulating porphyrin concentration	An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes.	11
Abnormal circulating prealbumin concentration	Any deviation from normal concentration of albumin in the blood circulation.	5
Abnormal circulating proline concentration	Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation.	20
Abnormal circulating proteinogenic amino acid concentration	An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.	109
Abnormal circulating proteinogenic amino acid derivative concentration	Any deviation from the normal concentration in the blood circulation of a compound that is derived from an amino acid.	76
Abnormal circulating purine concentration	Any deviation from the normal concentration of a purine in the blood circulation.	3
Abnormal circulating pyrimidine concentration	Any deviation from the normal concentration of a pyrimidine in the blood circulation.	4
Abnormal circulating pyruvate family amino acid concentration	An abnormality of a pyruvate family amino acid metabolic process.	68
Abnormal circulating renin concentration	A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions.	33
Abnormal circulating selenium concentration	Any deviation from the normal circulating concentration of selenium.	3
Abnormal circulating serine concentration	Any deviation from the normal concentration of serine in the blood circulation.	5
Abnormal circulating serine family amino acid concentration	Any deviation from the normal concentration of a serine family amino acid in the blood circulation.	33
Abnormal circulating sex hormone concentration	Any deviation from the normal concentration of a sex hormone in the blood circulation	118
Abnormal circulating sulfur amino acid concentration	Any deviation from the normal concentration of a sulfur amino acid in the blood circulation.	25
Abnormal circulating testosterone concentration	An anomalous concentration of testosterone in the blood.	84
Abnormal circulating threonine concentration	Any deviation from the normal concentration of threonine in the blood circulation.	3
Abnormal circulating thyroglobulin concentration	A deviation from the normal concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.	22
Abnormal circulating thyroid hormone concentration	Any deviation from the normal range of the hormones produced by the thyroid gland.	36
Abnormal circulating transferrin concentration	Any deviation from the normal concentration of transferrin in the blood circulation.	3
Abnormal circulating tyrosine concentration	Any deviation from the normal concentration of tyrosine in the blood circulation.	7
Abnormal circulating unsaturated fatty acid concentration	A deviation from the normal concentration of an unsaturated fatty acid in the blood circulation.	4
Abnormal circulating valine concentration	Any deviation from the normal circulation of valine in the blood circulation.	5
Abnormal circulating vitamin A concentration	Concentration of vitamin A in the blood circulation outside limits of normal.	17
Abnormal circulating vitamin B12 concentration	A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins.	25
Abnormal circulating vitamin E concentration	Concentration of vitamin E in the blood circulation outside of normal limits.	19
Abnormal clavicle morphology	Any abnormality of the clavicles (collar bones).	115
Abnormal clitoris morphology	Any structural abnormality of the clitoris.	97
Abnormal coagulation factor V activity	Any deviation from the activity of coagulation factor V.	5
Abnormal coccyx morphology	Any structural abnormality of the coccyx.	9
Abnormal cochlea morphology	An abnormality of the cochlea.	35
Abnormal columella morphology	A structural abnormality of the columella.	97
Abnormal common carotid artery morphology	An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery.	5
Abnormal conjunctiva morphology	An abnormality of the conjunctiva.	175
Abnormal connection of the cardiac segments	A deviance in the normal connections between two cardiac segments.	275
Abnormal consumption behavior	Recurrent abnormal consumption of food, liquids, or objects that could have negative consequences for the individual.	283
Abnormal conus terminalis morphology	Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usually between the L1 and L2 lumbar vertebrae).	31
Abnormal corneal endothelium morphology	Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea.	20
Abnormal corneal epithelium morphology	Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea.	117
Abnormal corneal limbus morphology	An anomaly of the margin of the cornea overlapped by the sclera.	3
Abnormal corneal reflex	An anomaly of the corneal reflex that normally induces involuntary blinking of the eyelids following contact of the cornea.	12
Abnormal corneal stroma morphology	An abnormality of the stroma of cornea, also known as the substantia propria of cornea.	102
Abnormal corneal thickness	An abnormal anteroposterior thickness of the cornea.	125
Abnormal coronary artery course	An abnormal path of a coronary artery.	4
Abnormal coronary artery morphology	Any structural abnormality of the coronary arteries.	72
Abnormal coronary artery origin	Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries.	7
Abnormal coronary sinus morphology	An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium.	4
Abnormal corpus striatum morphology	Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens.	43
Abnormal cortical bone morphology	An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones.	89
Abnormal corticospinal tract morphology	Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord.	50
Abnormal cranial nerve morphology	Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.	77
Abnormal cranial nerve physiology	A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.	289
Abnormal cry	Any anomaly of the vocalizing of an infant's crying, i.e.,the typically loud voice production that is accompanied by tears and agitation.	60
Abnormal cutaneous elastic fiber morphology	Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils.	9
Abnormal delayed hypersensitivity skin test	Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter.	8
Abnormal delivery	An abnormality of the birth process.	100
Abnormal demeanor	An anomaly in demeanor, which refers to the outward behavior, manner, or conduct of a person. It encompasses how an individual presents themselves to others in terms of attitude, posture, and general comportment.	44
Abnormal dense granules	Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin.	9
Abnormal dental enamel morphology	An abnormality of the dental enamel.	220
Abnormal dental morphology	An abnormality of the morphology of the tooth.	296
Abnormal dental pulp morphology	An abnormality of the dental pulp.	61
Abnormal dental root morphology	An abnormality of the dental root.	59
Abnormal dentate nucleus morphology	An abnormality of the dentate nucleus.	15
Abnormal dentin morphology	Any abnormality of dentin.	26
Abnormal dermoepidermal hemidesmosome morphology	An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane.	11
Abnormal dermoepidermal junction morphology	Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments.	12
Abnormal diencephalon morphology	An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain.	127
Abnormal distal femoral metaphysis morphology	An anomaly of the metaphysis of the distal femur (close to the knee).	5
Abnormal distal phalanx morphology of finger	Any anomaly of distal phalanx of finger.	170
Abnormal drinking behavior	Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption.	54
Abnormal drug response	An anomalous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy.	3
Abnormal ductus choledochus morphology	An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder.	4
Abnormal duodenum morphology	An abnormality of the duodenum, i.e., the first section of the small intestine.	87
Abnormal dura mater morphology	An abnormality of the Dura mater.	26
Abnormal earlobe morphology	An abnormality of the lobule of pinna.	137
Abnormal eating behavior	Abnormal eating habits involve excessive or insufficient consumption of food, or any other abnormal pattern of food consumption.	126
Abnormal elasticity of skin	Any abnormal increase or reduction in skin elasticity.	235
Abnormal electrophysiology of sinoatrial node origin	An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart.	81
Abnormal electroretinogram	Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.	225
Abnormal embryonic development	An anomaly in the development of the embryo, that is, of the early developmental stage of development that follows the fertilization of an egg by sperm.	8
Abnormal enchondral ossification	An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage.	149
Abnormal endocardium morphology	An abnormality of the endocardium.	61
Abnormal endocrine morphology	Any anomaly of the structure of an organ ofthe endocrine system.	118
Abnormal endocrine physiology	Any anomaly of the function of the endocrine system.	152
Abnormal endometrium morphology	An anomaly of the inner mucous membrane of the uterus.	28
Abnormal energy expenditure	Any anomaly in the utilization of energy (calories).	12
Abnormal enteric ganglion morphology	An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow.	149
Abnormal enteric nervous system morphology	A structural anomaly of nerves of the enteric nervous system.	150
Abnormal enzyme activity in cultured fibroblasts	Concentration or activity of an enzyme is above or below the limits of normal in cultured fibroblasts. Fibroblasts are easy to grow in culture and are the main cell type involved in producing extracellular matrix. They are used as a convenient model system for measuring enzyme activity for enzymes that are not expressed in blood cells. Usually, the test is done in fibroblasts for convenience rather than for the investigation of a pathophysiology specific to fibroblasts.	29
Abnormal enzyme activity in muscle tissue	Deviation from the normal activity of an enzyme in muscle tissue.	8
Abnormal eosinophil count	Any deviation from the normal number of eosinophils per volume in the blood circulation.	66
Abnormal eosinophil morphology	An abnormal count or structure of eosinophils.	72
Abnormal epidermal morphology	An abnormality of the morphology of the epidermis.	93
Abnormal epididymis morphology	An abnormality of the epididymis.	30
Abnormal epiglottis morphology	An abnormality of the epiglottis.	23
Abnormal epiphyseal ossification	An abnormality of the formation and mineralization of an epiphysis.	86
Abnormal epiphysis morphology	An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.	277
Abnormal epiphysis morphology of the phalanges of the hand	Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).	42
Abnormal erythrocyte adenosine deaminase activity	Activity of adenosine deaminase in red blood cells outside the limits of normal.	27
Abnormal erythrocyte enzyme concentration or activity	An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme.	48
Abnormal erythrocyte metabolite concentration	A deviation from the normal range of a metabolite in red blood cells.	4
Abnormal erythrocyte physiology	Any functional abnormality of erythrocytes (red-blood cells).	15
Abnormal erythrocyte sedimentation rate	A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling.	78
Abnormal erythroid lineage cell morphology	An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes.	13
Abnormal esophagus morphology	A structural abnormality of the esophagus.	237
Abnormal exteroceptive sensation	A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes.	255
Abnormal eye contact	Any abnormality of eye contact behavior. We define eye contact as a form of nonverbal communication between two individuals who are facing each other in which an individual directs the eyes towards the eyes or face of the other individual. Eye contact occurs frequently and voluntarily during face-to-face verbal communication. The duration and frequency of eye contact that is interpreted to be appropriate may follow social and situational norms.	112
Abnormal eyelash morphology	An abnormality of the eyelashes.	282
Abnormal eyelid physiology	Any functional abnormality of the eyelid.	39
Abnormal factor IX activity	Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.	6
Abnormal factor VIII activity	A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.	5
Abnormal fallopian tube morphology	An abnormality of the fallopian tube.	27
Abnormal fear-induced behavior	An abnormal fear-induced behavior includes observable actions. This behavior is characterized by abnormal responses to fear or abnormal fear levels. Examples of such behavior include avoiding fear-inducing situations.	8
Abnormal female external genitalia morphology	Any structural abnormality of the female external genitalia.	158
Abnormal female meiosis	Anomalous oocyte meiosis	6
Abnormal femoral epiphysis morphology	An anomaly of a growth plate of a femur.	85
Abnormal femoral head morphology	An abnormality of the femoral head.	91
Abnormal femoral metaphysis morphology	An anomaly of the femoral metaphysis.	21
Abnormal femoral neck morphology	An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).	158
Abnormal femoral torsion	Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degrees at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range.	10
Abnormal fetal cardiovascular morphology	A structural abnormality of the fetal circulation system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.	52
Abnormal fetal central nervous system morphology	An anomalous structural finding of the fetal central nervous system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.	6
Abnormal fetal gastrointestinal system morphology	An anomalous structural finding of the fetal gastrointestinal system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.	19
Abnormal fetal genitourinary system morphology	An anomalous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.	13
Abnormal fetal nasal bone visualization	Abnormal appearance or non-visualization (apparent absence) of the nasal bone of a fetus in first trimester sonographic screening. Assessment of the fetal nasal bone is generally performed at 11-14 weeks gestational age.	3
Abnormal fetal pulmonary morphology	An anomalous structural finding of the fetal lungs. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.	9
Abnormal fetal skeletal morphology	An anomalous structural finding of the fetal skeleton. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other terms from the skeletal hierarchy can also be used to describe fetal phenotypes.	4
Abnormal fetal skin morphology	Any structural anomaly of the skin of the fetus or newborn. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.	17
Abnormal fibula morphology	An anomaly of the calf bone (fibula), one of the two bones of the calf.	61
Abnormal fifth toe morphology	An anomaly of the little toe.	92
Abnormal finger flexion crease	Anomalous flexion crease (i.e., a transverse line that crosses the skin of a finger).	20
Abnormal fingernail morphology	An abnormality of the fingernails.	194
Abnormal fingertip morphology	An abnormal structure of the tip (end) of a finger.	91
Abnormal flash visual evoked potentials	Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room.	5
Abnormal fontanelle morphology	An abnormality of the fontanelle.	210
Abnormal foot bone ossification	An abnormality of the formation and mineralization of any bone of the skeleton of foot.	13
Abnormal foramen magnum morphology	Any abnormality of the foramen magnum.	18
Abnormal forearm morphology	An abnormality of the lower arm.	235
Abnormal fourth toe morphology	An anomaly of the fourth toe.	11
Abnormal fourth ventricle morphology	An abnormality of the fourth ventricle.	162
Abnormal foveal morphology	An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina.	59
Abnormal frontalis muscle physiology	Abnormal function of the frontalis muscle, which covers parts of the forehead and is responsible for raising the eyebrows.	10
Abnormal fundus autofluorescence imaging	Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Autofluorescent patterns result from the complex interaction of fluorophores such a lipofuscin, which release an autofluorescent signal, and elements such as melanin and rhodopsin, which absorb the excitation beam and attenuate autofluorescence. Other structures such as retinal vessels and the crystalline lens may also influence autofluorescence through blocking and interference.	31
Abnormal galactosidase enyzme activity	Abnormality of galactoside metabolism. A galactoside is a glycoside (a sugar moiety bound to some other moiety) containing galactose.	3
Abnormal gallbladder morphology	A structural anomaly of the gallbladder.	93
Abnormal gallbladder physiology	A functional anomaly of the gallbladder.	20
Abnormal gametogenesis	An anomaly in the process by a a haploid cell is formed from a diploid cells through meiosis. In males, diploid spermatogonia produce two haploid cells (secondary spermatocytes) in meiosis I and four haploid spermatids in meiosis II. In females, primordial germ cells under meiosis II before birth to form primary oocytes. Once puberty cell begins, these cells form secondary oocytes through meiosis II.	6
Abnormal gamma-glutamyltransferase level	Any deviation from the normal level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.	47
Abnormal gastric mucosa morphology	An abnormality of the gastric mucous membrane.	44
Abnormal gastrointestinal motility	An anomaly of the muscular contractions that propel food though the gastrointestinal tract.	117
Abnormal gastrointestinal transit time	A deviation from the normal amount of time required for food to pass through the intestines.	3
Abnormal germ cell morphology	Any structural anomaly of a reproductive cell.	67
Abnormal glial cell morphology	An abnormality of the glia cell.	153
Abnormal globus pallidus morphology	An abnormality of the globus pallidus.	25
Abnormal glomerular basement membrane morphology	Any abnormal sttructure of the glomerular basement membrane.	13
Abnormal glomerular filtration rate	An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.	28
Abnormal glomerular mesangial cellularity	Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney.	7
Abnormal glomerular mesangium morphology	An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries.	48
Abnormal glomerular visceral epithelial cell morphology	Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary.	10
Abnormal glycosidase enzyme activity	Abnormality of glycosidase enzyme activity. Glycoside hydrolases (GHs), including glycosidases and transglycosidases. These enzymes constitute 113 protein families that are responsible for the hydrolysis and/or transglycosylation of glycosidic bonds.	3
Abnormal glycosphingolipid metabolism	An abnormality of glycosphingolipid metabolism.	7
Abnormal glycosylation	An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule.	53
Abnormal gonadotropin-releasing hormone concentration	A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone (GnRH). Intermittent GnRH secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH).	21
Abnormal granulocyte count	Any deviation from the normal cell count per volume of granulocytes in the blood circulation.	271
Abnormal granulocytopoietic cell morphology	An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell.	15
Abnormal greater sciatic notch morphology	An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.	22
Abnormal growth hormone level	Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful.	31
Abnormal growth plate morphology	A structural anomaly of the growth plates (epiphyseal plates), areas of cartilage located near the ends of long bones that are located between the metaphysis (widened part of the shaft of the bone) and the epiphysis (end of the bone) and in which growth occurs in the developing bone. After conclusion of bone growth, the growth plates ossify (harden into solid bone).	3
Abnormal hair whorl	An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair).	40
Abnormal hairshaft morphology	An abnormal structure of the hairshaft, i.e., of the nongrowing portion of a hair that protrudes from the skin.	34
Abnormal hallux morphology	This term applies for all abnormalities of the big toe, also called hallux.	207
Abnormal hand bone ossification	An abnormality of the formation and mineralization of any bone of the skeleton of hand.	41
Abnormal hand epiphysis morphology	Any abnormality of the epiphyses of the phalanges or metacarpal bones.	58
Abnormal head blood vessel morphology	An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head.	82
Abnormal heart rate variability	Any abnormality in the variability of the time interval between successive heartbeats.	24
Abnormal heart sound	Any abnormal noise generated by the beating heart.	42
Abnormal helix morphology	An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe.	183
Abnormal hematocrit	Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood.	13
Abnormal hemoglobin	Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes.	76
Abnormal hemoglobin concentration	Any deviation from the normal concentration of hemoglobin in the blood.	20
Abnormal hepatic echogenicity	Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen).	7
Abnormal hepatic glycogen storage	Change in normal glycogen storage content.	11
Abnormal hepatocyte morphology	A structural anomaly of the hepatocyte, which is the main cell type that makes up the liver perncyhma. Hepatocytes are usually binucleated and appear as sheets in the liver tissue.	3
Abnormal hippocampus morphology	Any structural anomaly of the hippocampus,	48
Abnormal humerus morphology	Any anomaly of the structure of the humerus.	16
Abnormal hypnagogia	Abnormal transition of consciousness from wakefulness to sleep.	10
Abnormal hypnopompia	Abnormal transition of consciousness from sleeping to wakefulness.	17
Abnormal hypothalamus morphology	Any structural anomaly of the hypothalamus.	22
Abnormal hypothalamus physiology	An abnormal functionality of the hypothalamus.	52
Abnormal iliac wing morphology	An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally.	67
Abnormal ilium morphology	An abnormality of the ilium, the largest and uppermost bone of the pelvis.	103
Abnormal immune serum protein physiology	An abnormality of the concentration or function of circulating immune proteins.	48
Abnormal incisor morphology	An abnormality of morphology of the incisor tooth.	62
Abnormal inferior vena cava morphology	Any structural anomaly of the principal vein draining blood from the lower portion of the body.	48
Abnormal inner ear morphology	A structural anomaly of the internal part of the ear.	81
Abnormal internal carotid artery morphology	An abnormality of an internal carotid artery.	11
Abnormal interpretation of external stimuli	Abnormal perception of reality is characterized by an abnormal or inaccurate experience of external stimuli.	37
Abnormal intervertebral disk morphology	Any structural abnormality of the intervertebral disk.	46
Abnormal intestinal smooth muscle morphology	A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine.	4
Abnormal intrahepatic bile duct morphology	An abnormality of the intrahepatic bile duct.	30
Abnormal intraocular pressure	An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye.	39
Abnormal intrarenal artery morphology	An anomalous structure of an artery located in the kidney.	28
Abnormal iris pigmentation	Abnormal pigmentation of the iris.	146
Abnormal ischium morphology	An anomaly of the ischium, which forms the lower and back part of the hip bone.	26
Abnormal isoelectric focusing of serum transferrin	Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded.	46
Abnormal isohemagglutinin level	An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).	7
Abnormal jejunum morphology	An abnormality of the jejunum, i.e., of the middle section of the small intestine.	11
Abnormal jugular venous pressure	An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure.	4
Abnormal knee physiology	A functional anomaly of the knee joint.	86
Abnormal labia majora morphology	An anomaly of the outer labia.	45
Abnormal labia minora morphology	An anomaly of the labia minora, the folds of skin between the outer labia.	39
Abnormal labia morphology	An anomaly of the labia, the externally visible portions of the vulva.	86
Abnormal lacrimal duct morphology	An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac.	50
Abnormal lacrimal gland morphology	Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye.	10
Abnormal lacrimal punctum morphology	An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid.	8
Abnormal large intestine physiology	A functional anomaly of the large intestine.	58
Abnormal larynx morphology	Any anomaly of the structure of the larynx.	154
Abnormal larynx physiology	Any anomaly of the function of the larynx.	47
Abnormal lateral ventricle morphology	A morphological anomaly of the lateral ventricle.	123
Abnormal left atrium morphology	Any structural abnormality of the left atrium.	25
Abnormal left ventricle morphology	Any structural abnormality of the left ventricle of the heart.	138
Abnormal left ventricular ejection fraction	Any abnormality of the left ventricular ejection fraction (LVEF), which is the fraction of chamber volume ejected in systole (stroke volume) in relation to the volume of the blood in the ventricle at the end of diastole (end-diastolic volume). Stroke volume (SV) is calculated as the difference between end-diastolic volume (EDV) and end-systolic volume (ESV). LVEF is calculated as in percent.	59
Abnormal left ventricular end-diastolic volume	Any deviation from the normal range of end-diastolic volume of the left ventricle, which is the volume of blood in the left ventricle at the end of diastole (just before systole).	22
Abnormal left ventricular function	Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole.	154
Abnormal left ventricular outflow tract morphology	An abnormality of the outflow tract of the left ventricle.	27
Abnormal leukocyte enzyme concentration or activity	Concentration or activity of an enzyme as measured in leukocytes is above or below the limits of normal.	5
Abnormal levator palpebrae superioris morphology	An abnormality of a levator palpebrae superioris.	6
Abnormal libido	Any deviation from the normal sexual drive or desire for sexual activity.	42
Abnormal light- and dark-adapted electroretinogram	An abnormality of the combined rod-and-cone response on electroretinogram.	39
Abnormal limb epiphysis morphology	An anomaly of one or more epiphyses of a limb.	136
Abnormal line of Schwalbe morphology	An abnormality of the line of Schwalbe.	57
Abnormal lip pigmentation	Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal.	4
Abnormal liver enzyme activity or concentration	Concentration or activity of an enzyme is above or below the limits of normal in liver tissue.	14
Abnormal liver metabolite concentration	The concentration of a metabolite in the liver is above or below the limits of normal.	202
Abnormal liver parenchyma morphology	A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells.	12
Abnormal liver physiology	Any functional anomaly of the liver.	26
Abnormal liver sonography	An abnormal appearance of the liver or any of its components on sonography (ultrasound).	8
Abnormal localization of kidney	An abnormal site of the kidney.	237
Abnormal lower limb epiphysis morphology	An anomaly of one or more epiphyses of one or both legs.	93
Abnormal lower lip morphology	An abnormality of the lower lip.	240
Abnormal lower motor neuron morphology	Any structural anomaly of the lower motor neuron.	26
Abnormal lower-limb motor evoked potentials	An anomaly identified by motor evoked potentials (MEPs) in the leg.	6
Abnormal lumbar spine morphology	Any structural abnormality of the lumbar vertebral column.	33
Abnormal lung development	A structural defect associated with abnormal development of the lung.	238
Abnormal lung lobation	A developmental defect in the formation of pulmonary lobes.	44
Abnormal lymph node morphology	A structural lymph node abnormality.	262
Abnormal lymphatic vessel morphology	A structural anomaly of the vessel that contains or conveys lymph fluid.	17
Abnormal lymphocyte apoptosis	A anomaly in the rate of programmed cell death (apoptosis) in lymphocytes.	6
Abnormal lymphocyte count	Any abnormality in the total number of lymphocytes in the blood.	230
Abnormal lymphocyte morphology	An abnormality of lymphocytes.	253
Abnormal lymphocyte proliferation	Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population.	43
Abnormal macrophage morphology	An abnormality of macrophages.	47
Abnormal macroscopic urine appearance	Anomalous physical appearance (color, cloudiness, clarity) or odor of urine.	57
Abnormal macular morphology	A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina.	220
Abnormal magnesium concentration	An abnormality of magnesium ion homeostasis.	34
Abnormal male germ cell morphology	A structural anomaly of a male reproductive cell.	67
Abnormal male internal genitalia morphology	An abnormality of the male internal genitalia.	90
Abnormal mandible condylar process morphology	An abnormality of a mandible condylar process.	3
Abnormal mandibular ramus morphology	An abnormality of a mandibular ramus.	6
Abnormal manganese concentration	A deviation from the normal range of manganese in the blood circulation.	3
Abnormal mast cell morphology	Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation.	8
Abnormal mastoid morphology	An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone.	12
Abnormal maternal serum screening	An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy.	8
Abnormal maxilla morphology	An abnormality of the Maxilla (upper jaw bone).	153
Abnormal mean corpuscular hemoglobin concentration	A deviation from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.	22
Abnormal mean corpuscular volume	A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters.	63
Abnormal mediastinum morphology	Any structural anomaly of the central compartment of the thoracic cavity.	47
Abnormal megakaryocyte morphology	Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells.	28
Abnormal meiosis	Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells.	6
Abnormal meningeal morphology	An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater.	184
Abnormal mesentery morphology	Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium).	6
Abnormal metabolic brain imaging by MRS	An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS).	69
Abnormal metabolism	An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products.	163
Abnormal metacarpal morphology	Any abnormal shape or structure of the metacarpal bones.	226
Abnormal metacarpophalangeal joint morphology	An anomaly of a metacarpophalangeal joint.	23
Abnormal metaphyseal trabeculation	An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone.	25
Abnormal metaphysis morphology	An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.	232
Abnormal metatarsal morphology	Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes).	157
Abnormal midbrain morphology	An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct.	80
Abnormal middle phalanx morphology of the hand	An anomaly of middle phalanx of finger.	71
Abnormal mitochondria in muscle tissue	An abnormality of the mitochondria in muscle tissue.	48
Abnormal mitochondrial morphology	Any structural anomaly of the mitochondria.	24
Abnormal mitochondrial number	A deviation from the normal number of mitochondria per cell.	6
Abnormal mitochondrial shape	An anomaly in the surface contour of mitochondria.	10
Abnormal mitral valve morphology	Any structural anomaly of the mitral valve.	160
Abnormal mitral valve physiology	Any functional anomaly of the mitral valve.	176
Abnormal molar morphology	An abnormality of morphology of molar tooth.	57
Abnormal monocyte count	An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.	21
Abnormal monocyte morphology	Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.	21
Abnormal morphology of bony orbit of skull	An abnormality of an orbit of skull.	36
Abnormal morphology of left ventricular trabeculae	Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae).	19
Abnormal morphology of musculature of pharynx	An abnormality of any of the muscles of the pharynx.	5
Abnormal morphology of myocardial trabeculae	Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae).	20
Abnormal morphology of phalanx of the 2nd toe	An anomaly of a phalanx of second toe.	4
Abnormal morphology of the abdominal musculature	An abnormality of the abdominal musculature.	61
Abnormal morphology of the chordae tendinae of the mitral valve	A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve.	4
Abnormal morphology of the conjunctival vasculature	Any abnormality of the blood vessels of the conjunctiva.	27
Abnormal morphology of the limbic system	Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. .	49
Abnormal morphology of the musculature of the neck	An abnormality of the neck musculature.	87
Abnormal morphology of the olfactory bulb	An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell.	35
Abnormal morphology of the proximal phalanx of the hallux	An abnormal shape or form of the proximal phalanx of the big toe.	6
Abnormal morphology of the radius	An abnormality of the radius.	213
Abnormal morphology of the vestibule of the inner ear	A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals.	33
Abnormal morphology of ulna	Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger.	158
Abnormal motor evoked potentials	An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways.	12
Abnormal motor neuron morphology	Any structural anomaly that affects the motor neuron.	78
Abnormal movement during sleep	Periodic Limb Movement Disorder, also known as Sleep-Related Myoclonus Syndrome or Nocturnal Myoclonus Syndrome, refers to the periodic and stereotypic movements of the legs or upper limbs during sleep.	38
Abnormal muscle fiber alpha dystroglycan	A deviation from normal of muscle alpha-dystroglcan expression. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly.	12
Abnormal muscle fiber emerin	A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue.	6
Abnormal muscle fiber merosin expression	An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve.	5
Abnormal muscle fiber morphology	Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers.	289
Abnormal muscle fiber protein expression	An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue.	32
Abnormal muscle fiber-type distribution	Ay deviation from the normal distribution of fiber types in skeletal muscle. The skeletal muscle groups of the mammalian body are made up of bundles of muscle fibers. These fibers can be assigned to different Types, with characteristic movement rates, response to neural inputs, and metabolic styles. Skeletal muscle fibers are broadly classified as slow-twitch (type 1) and fast-twitch (type 2). Multiple fiber types are generally intermingled within a single muscle group, and different muscle groups have varying proportions of fiber types	83
Abnormal muscle glycogen content	Any anomaly in the amount of glycogen in muscle tissue.	13
Abnormal nail attachment	An anomaly of the connection of the nail to the nailbed.	24
Abnormal nail surface	An anomaly of the surface of the nail.	40
Abnormal nasal base norphology	An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face.	30
Abnormal nasal bone morphology	An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone.	9
Abnormal nasal cavity morphology	Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures).	16
Abnormal nasal dorsum morphology	An abnormality of the nasal dorsum, also known as the nasal ridge.	259
Abnormal nasal mucus secretion	Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose.	7
Abnormal nasal septum morphology	An abnormality of the nasal septum.	23
Abnormal nasal skeleton morphology	An abnormality of the nasal skeleton.	12
Abnormal nasolacrimal system morphology	An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity.	75
Abnormal nasopharyngeal adenoid morphology	Any abnormality of nasopharyngeal adenoids.	3
Abnormal nasopharynx morphology	A structural anomaly of the nasopharynx.	189
Abnormal natural killer cell count	Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes.	40
Abnormal natural killer cell morphology	An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells.	43
Abnormal natural killer cell physiology	A functional anomaly of the natural killer cell.	16
Abnormal neck blood vessel morphology	An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck.	3
Abnormal neck physiology	Any functional anomaly of the neck region.	35
Abnormal negative emotional state	An aversive emotional state characterized by negative emotional experiences, preoccupations, or internal states that are often related to negative perceptions of the self, the world, or the future.	4
Abnormal nephron morphology	A structural anomaly of the nephron.	268
Abnormal neuron morphology	A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions.	85
Abnormal neutrophil count	A deviation from the normal range of neutrophil cell counts in the circulation.	229
Abnormal neutrophil morphology	An abnormal form or size of neutrophils.	18
Abnormal nipple morphology	An abnormality of the nipple.	254
Abnormal nonverbal communicative behavior	Abnormalities in eye contact, communicative facial expressions, gesture use, or the use of others' bodies to communicate convey shared meanings within a culture that replace or supplement verbal communication.	118
Abnormal number of alpha granules	A deviation from the normal count of alpha granules per thrombocyte.	4
Abnormal number of dense granules	A deviation from the normal count of dense granules per thrombocyte.	7
Abnormal number of erythroid precursors	A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.	52
Abnormal number of incisors	The presence of an altered number of the incisor teeth.	60
Abnormal number of permanent teeth	The presence of an altered number of of permanent teeth.	35
Abnormal number of vertebrae	A deviation from the normal number of vertebrae in the spinal column.	5
Abnormal occipital bone morphology	Abnormality of the occipital bone of the skull.	120
Abnormal ocular adnexa physiology	A functional anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.	39
Abnormal odontoid process morphology	Abnormal structure of the odontoid process, which is a part of the C2 or axis vertebra and forms pivot of the structures forming the craniovertebral junction. The odontoid process is also known as the dens of the axis.	34
Abnormal odontoid tissue morphology	An abnormality of an odontoid tissue.	237
Abnormal olfactory lobe morphology	A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell.	8
Abnormal oocyte morphology	An abnormal structure of the female germ cell (egg cell).	6
Abnormal optic chiasm morphology	A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves.	6
Abnormal oral frenulum morphology	An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity.	70
Abnormal oral glucose tolerance	An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose.	15
Abnormal ossification of the pubic bone	Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis.	10
Abnormal ovarian physiology	Any anomaly of ovarian function.	92
Abnormal palmar dermatoglyphics	An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand.	264
Abnormal pancreas size	A deviation from the normal size of the pancreas.	34
Abnormal pancreatic duct morphology	Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum.	3
Abnormal paranasal sinus morphology	Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses.	183
Abnormal parathyroid morphology	A structural abnormality of the parathyroid gland.	23
Abnormal parietal bone morphology	Any abnormality of the parietal bone of the skull.	29
Abnormal parotid gland morphology	Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear.	9
Abnormal patella morphology	Abnormality of the patella (knee cap).	109
Abnormal pectoral muscle morphology	An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major.	8
Abnormal peer relationships	The state of having abnormal relationships with others. This does not describe specific aspects of one's social aptitudes but rather a state which may come about from these aptitudes, such as lacking peer relationships or lacking close friends.	10
Abnormal pelvis bone ossification	An abnormality of the formation and mineralization of any bone of the bony pelvis.	17
Abnormal pericardium morphology	An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery.	80
Abnormal perifollicular morphology	Any structural anomaly in the areas surrounding the hair follicles.	6
Abnormal periosteum morphology	An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones.	8
Abnormal peripheral action potential amplitude	An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve.	39
Abnormal peripheral myelination	An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense.	110
Abnormal peripheral nerve morphology by anatomical site	Abnormal morphology of a specific peripheral nerve	4
Abnormal peripheral nervous system physiology	Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.	177
Abnormal peripheral nervous system synaptic transmission	An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system.	121
Abnormal peristalsis	An anomaly of the wave-like muscle contractions of the digestive tract.	25
Abnormal peritoneum morphology	An abnormality of the peritoneum.	64
Abnormal periventricular white matter morphology	A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles.	130
Abnormal permanent molar morphology	An abnormality of morphology of permanent molar.	55
Abnormal phagocytosis	An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation.	5
Abnormal pharynx morphology	A structural anomaly of the pharynx.	204
Abnormal pigmentation of the oral mucosa	An abnormality of the pigmentation of the mucosa of the mouth.	44
Abnormal pineal melatonin secretion	An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland.	8
Abnormal pineal morphology	A structural abnormality of the pineal gland.	12
Abnormal pitch	Persistently abnormally high or low-pitched vocalization or speech than is considered the norm for the context of social situation or significantly different from baseline of the individual.	60
Abnormal placenta morphology	An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange.	37
Abnormal placental membrane morphology	Structural anomaly of the fetal membranes (also known as the amniochorionic or placental membranes), which comprise a vital intrauterine compartment, where they perform mechanical, immune, and endocrine functions to promote growth of the fetus and protection from environmental adversity. Amniochorionic membranes anatomically consist of a single layer of cuboidal amnion epithelial cells, chorionic trophoblasts, and scattered fibroblasts connected by a layer of type IV collagen-rich extracellular matrix.	14
Abnormal placental size	A deviation from normal size of the placenta.	15
Abnormal platelet aggregation	An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.	41
Abnormal platelet function	Any anomaly in the function of thrombocytes.	61
Abnormal platelet granules	An anomaly of alpha or dense granules or platelet lysosomes.	13
Abnormal platelet membrane protein expression	Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry.	6
Abnormal platelet volume	Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers.	30
Abnormal play	An abnormality in a child's ability play.	4
Abnormal pleura morphology	An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls.	185
Abnormal pons morphology	A structural abnormality of the pons.	115
Abnormal portal venous system morphology	Any structural anomaly of the portal venous system, which comprises all of the veins draining the abdominal part of the digestive tract, including the lower esophagus but excluding the lower anal canal. The portal vein conveys blood from viscera and ramifies like an artery at the liver, ending at the sinusoids. Tributaries of the portal vein, which make up the portal venous system, are the splenic, superior mesenteric, left gastric, right gastric, paraumbilical, and cystic veins.	13
Abnormal posterior cranial fossa morphology	An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum.	219
Abnormal posterior pituitary morphogenesis	An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis.	35
Abnormal posturing	Involuntary flexion or extension of the arms and legs.	7
Abnormal preimplantation embryonic development	An anomaly in the development of the embryo in a stage prior to implantation.	8
Abnormal preoccupation	Preoccupations refers to being absorbed in any particular thought, activity, or concern that captures the attention of the individual. It may have a positive or negative connotation.	50
Abnormal preputium morphology	An abnormality of the retractable fold of skin that covers the tip of the penis.	36
Abnormal primary molar morphology	An abnormality of morphology of primary molar.	13
Abnormal proportion of CD4-positive T cells	Any abnormality in the proportion of CD4-positive T cells relative to the total number of T cells.	45
Abnormal proportion of CD4-positive helper T cells	An abnormal proportion of circulating CD4-positive helper T cells relative to total T cell count.	30
Abnormal proportion of CD8-positive T cells	Any abnormality in the proportion of CD8 T cells relative to the total number of T cells.	20
Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells	An abnormal proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.	4
Abnormal proportion of CD8-positive, alpha-beta memory T cells	An abnormal proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.	4
Abnormal proportion of class-switched memory B cells	A deviation of the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM-/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.	17
Abnormal proportion of double-negative alpha-beta regulatory T cell	An abnormal proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.	5
Abnormal proportion of gamma-delta T cells	Abnormal proportion of gamma-delta T cells relative to the total number of T cells.	3
Abnormal proportion of memory B cells	A deviation of the normal proportion of memory B cells in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).	27
Abnormal proportion of memory T cells	An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response.	9
Abnormal proportion of naive CD4 T cells	Any abnormality in the proportion of naive CD4 T cells relative to the total number of T cells.	4
Abnormal proportion of naive T cells	Any abnormality in the proportion of naive T cells relative to the total number of T cells.	7
Abnormal proportion of transitional B cells	A deviation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.	4
Abnormal prosody	Prosody refers to the patterns of rhythm, stress, and intonation in spoken language. Abnormal prosody refers to abnormalities in the patterns of rhythm, stress, or intonation of speech or vocalization that can be heard by the observer. In general, this refers to overt and clear deviations in patterns from culturally accepted norms but many also include differences noted in comparison to the usual patterns of the individual (a quiet person suddenly becomes loud or vice versa).	81
Abnormal prostate morphology	An abnormality of the prostate.	36
Abnormal protein N-linked glycosylation	An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein.	47
Abnormal protein O-linked glycosylation	An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue.	8
Abnormal protein glycosylation	An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins.	48
Abnormal prothrombin time	Any deviation from the normal amount of time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.	50
Abnormal proximal femoral metaphysis morphology	An anomaly of the metaphysis of the proximal femur (close to the hip).	9
Abnormal psychotic pattern	Any abnormal pattern of psychotic experiences, where an individual has significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality.	159
Abnormal pubic bone morphology	An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (pubis, ilium, ischium) of the hip bone.	45
Abnormal pulmonary alveolar system morphology	A structural abnormality of the pulmonary acinus, alveolar parenchyma, or alveoli.	8
Abnormal pulmonary artery morphology	An abnormality of the structure of the pulmonary artery.	128
Abnormal pulmonary interstitial morphology	Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis.	153
Abnormal pulmonary lymphatics	An abnormality of the pulmonary lymphatic chain.	5
Abnormal pulmonary situs morphology	An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi.	44
Abnormal pulmonary thoracic imaging finding	This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density.	150
Abnormal pulmonary valve cusp morphology	Any structural anomaly of the pulmonary valve leaflets.	4
Abnormal pulmonary valve morphology	Any structural abnormality of the pulmonary valve.	57
Abnormal pulmonary valve physiology	Any functional anomaly of the pumonary valve.	161
Abnormal pulmonary vein morphology	An abnormality of the structure of the pulmonary veins.	83
Abnormal pulse	An anomaly of the rhythmic throbbing of an artery that reflects the widening of the artery as blood flows through it and is caused by successive contractions of the heart.	8
Abnormal pupil morphology	An abnormality of the pupil.	73
Abnormal pupil shape	A deviation from the normal circular shape of the pupil	6
Abnormal pupillary function	A functional abnormality of the pupil.	78
Abnormal pupillary light reflex	An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye.	30
Abnormal putamen morphology	Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum.	5
Abnormal pyramidal tract morphology	Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts.	69
Abnormal radial artery morphology	Any structural anomaly of the radial artery.	26
Abnormal radioactive iodine uptake test result	Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.	14
Abnormal rapid eye movement sleep	Abnormality of REM Sleep are phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tone except for the eye and middle-ear muscles. There are also phases of rapid eye movements.	20
Abnormal rectum morphology	An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus.	142
Abnormal relationship	The state of having abnormal relationships with others. This does not describe specific aspects of one's social aptitudes but rather a state which may come about from these aptitudes, such as lacking peer relationships, lacking close friends, or having a relational network that is abnormal given one's cultural context.	16
Abnormal renal artery morphology	Any structural abnormality of the renal artery.	28
Abnormal renal calyx morphology	Any abnormality of the morphology of the major calices or minor calices of the kidney.	6
Abnormal renal collecting system morphology	An abnormality of the renal collecting system.	29
Abnormal renal corpuscle morphology	Any anomalous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule.	210
Abnormal renal cortex morphology	An abnormality of the cortex of the kidney.	248
Abnormal renal corticomedullary differentiation	An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla.	23
Abnormal renal echogenicity	Anomalous echogenicity of the kidney on ultrasound examination.	38
Abnormal renal glomerulus morphology	A structural anomaly of the glomerulus.	209
Abnormal renal insterstitial morphology	Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid.	62
Abnormal renal medulla morphology	Any structural abnormality of the medulla of the kidney.	62
Abnormal renal pelvis morphology	An abnormality of the renal pelvis.	298
Abnormal renal tubular epithelial morphology	Any structural anomaly of the renal tubular epithelial cells (RTEC), a layer of cells in the outer layer of the renal tubule. These cells play a role in the absorption of substances such as glucose and amino from the primary urine.	19
Abnormal renal tubular lumen morphology	Abnormal structure or form of the lumen (opening) of kidney tubules.	5
Abnormal renal tubular resorption	An abnormality of renal absorption.	26
Abnormal renal tubule morphology	An abnormality of the renal tubules.	96
Abnormal renal vascular morphology	Anomalous structure of a blood vessel in the kidney.	29
Abnormal respiratory epithelium morphology	Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi.	25
Abnormal respiratory motile cilium morphology	Abnormal arrangement of the structures of the motile cilium.	25
Abnormal respiratory motile cilium physiology	Any functional anomaly of the respiratory motile cilia.	32
Abnormal response to ACTH stimulation test	An anomalous response to stimulation by administration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline.	6
Abnormal response to corticotropin releasing hormone stimulation test	An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals.	4
Abnormal response to endocrine stimulation test	An anomalous response to a test that is designed to probe the function of the endocrine system.	149
Abnormal response to glucagon stimulation test	An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH).	5
Abnormal response to insulin tolerance test	An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measured at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level.	8
Abnormal reticulocyte morphology	A reticulocyte abnormality.	84
Abnormal retinal nerve fiber layer morphology	A structural abnormality of the retinal nerve fiber layer	18
Abnormal retinal vascular morphology	A structural abnormality of retinal vasculature.	277
Abnormal rib ossification	An anomaly of the process of rib bone formation.	9
Abnormal right atrium morphology	Any structural abnormality of the right atrium.	25
Abnormal right ventricle morphology	An abnormality of the right ventricle of the heart.	73
Abnormal right ventricular function	Anomalous physiology (function) of the right ventricle.	21
Abnormal saccadic eye movements	An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements.	91
Abnormal sacroiliac joint morphology	An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone).	8
Abnormal sacrum morphology	An abnormality of the sacral bone.	159
Abnormal salivary gland morphology	Any abnormality of the salivary glands, the exocrine glands that produce saliva.	26
Abnormal sarcomere morphology	Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z disks.	13
Abnormal scapula morphology	Any abnormality of the scapula, also known as the shoulder blade.	180
Abnormal sclera morphology	An abnormality of the sclera.	140
Abnormal scrotal rugation	Anomaly of the folded ridges (wrinkles) of skin of the scrotum.	5
Abnormal scrotum morphology	Any structural abnormality of the scrotum, i.e., the sac that contains the testes, epididymis, and the lower part of the spermatic cord.	140
Abnormal sebaceous gland morphology	Any structural anomaly of the sebaceous glands.	3
Abnormal second heart sound	Any anomaly of the second heart sound (S2), which is produced by aortic (A2) and pulmonic (P2) valve closure. The A2-P2 interval normally increases with inspiration and narrows with expiration.	4
Abnormal second toe morphology	An anomaly of the second toe.	15
Abnormal sella turcica morphology	Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull.	42
Abnormal semicircular canal morphology	An abnormality of the morphology of the semicircular canal.	26
Abnormal septum pellucidum morphology	An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain.	110
Abnormal serum anion gap	Any deviation from the normal value of the serum anion gap, which is calculated from the electrolytes measured in the chemical laboratory, is defined as the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration.	6
Abnormal serum bicarbonate concentration	Any deviation from the normal concentration of bicarbonate, HCO3, in the circulation.	5
Abnormal serum bile acid concentration	A deviation from the normal concentration of serum bile acid concentration.	26
Abnormal serum estradiol	A deviation from normal concentrations of estradiol in the circulation.	62
Abnormal serum insulin-like growth factor 1 level	An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation.	30
Abnormal seventh cranial physiology	Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve.	188
Abnormal sex determination	Anomaly of primary or secondary sexual development or characteristics.	21
Abnormal sexual behavior	A deviation of sexual behaviors from the personal norms of the individual in the context of socially and culturally recognized patterns of human sexual behaviors.	8
Abnormal shape of the occiput	An abnormal shape of occiput.	118
Abnormal shape of the palpebral fissure	The presence of an abnormal shape of the palpebral fissure.	63
Abnormal shoulder morphology	An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula.	98
Abnormal shoulder physiology	Anopmalous function of the shoulder. The shoulder is a ball-and-socket joint that is made up of humerus, scapula and clavicle, which are connected by the sternoclavicular joint (SC), the acromioclavicular joint (AC), the glenohumeral joint (GH), and the scapulothoracic joint (ST). The GH, AC and SC joints link the upper extremity to the axial skeleton at the thorax and enable movement at the shoulder joint: flexion, extension, and rotation of the arm.	14
Abnormal size of nasopharyngeal adenoids	A deviation in the size of nasopharyngeal adenoids.	3
Abnormal size of pituitary gland	A deviation from the normal size of the pituitary gland.	29
Abnormal size of the palpebral fissures	An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures.	297
Abnormal skull base morphology	An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components.	240
Abnormal sleep architecture	Interruptions during the various stages of sleep.	4
Abnormal small intestinal mucosa morphology	A structural anomaly of the mucous lining of the small intestine.	25
Abnormal small intestine morphology	A structural abnormality of the small intestine.	212
Abnormal social behavior	An abnormality of actions or reactions of a person taking place during interactions with others.	176
Abnormal social development	A substantial lag in the ahcievement of or divergence from typical milestones in social interaction and communication skills. Social-emotional competencies in young children include helping, sharing, comforting, and exhibiting empathy and compliance.	150
Abnormal soft palate morphology	An abnormality of the soft palate.	266
Abnormal spatial orientation of the cardiac segments	Abnormality of the spatial relationship of the cardiac segments to other components of the heart.	124
Abnormal speech discrimination	A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss.	5
Abnormal sperm axoneme morphology	Abnormal structure of the sperm axonemal structure which consists of a ring of nine microtubular doublets and a central pair of microtubules, giving the classical 9+2 microtubular arrangement. The axoneme contains a central pair of microtubules (C1 and C2) that are connected by a bridge-like structure forming the central pair complex (CPC). Each of the nine outer doublets is composed of type A and B microtubules and connected by radial spokes to the CPC.	8
Abnormal sperm head morphology	A structural abnormality of the sperm head.	31
Abnormal sperm mid-piece morphology	A structural abnormality of the sperm mid-piece.	3
Abnormal sperm morphology	A structural anomaly of sperm.	66
Abnormal sperm motility	An anomaly of the mobility of ejaculated sperm.	110
Abnormal sperm physiology	Abnormality of a sperm function including protection of paternal DNA, traversing the female reproductive tract, oocyte localisation, penetration of the zona pellucida, oocyte activation and centriole deposition.	110
Abnormal sperm tail morphology	A structural abnormality of the sperm tail.	43
Abnormal spermatogenesis	Incomplete maturation or aberrant formation of the male gametes.	174
Abnormal spinal meningeal morphology	Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord.	25
Abnormal spleen physiology	Any anomaly of the function of the spleen.	19
Abnormal sputum	Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin.	131
Abnormal stapes morphology	An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear.	17
Abnormal sternal ossification	Any anomaly in the formation of the bony substance of the sternum.	12
Abnormal stomach morphology	An abnormality of the stomach.	270
Abnormal stool composition	Abnormal level of metabolite or other abnormal analyte result in a stool test.	20
Abnormal subarachnoid space morphology	Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid.	95
Abnormal subclavian artery morphology	Any anomaly of a subclavian artery.	11
Abnormal subpleural morphology	Any structural anomaly located between the pleura and the chest wall.	17
Abnormal substantia nigra morphology	A structural anomaly of the substantia nigra, which is a midbrain dopaminergic nucleus which has a critical role in modulating motor movement and reward functions as part of the basal ganglia circuitry.	22
Abnormal superficial reflex	An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons.	299
Abnormal superior cerebellar peduncle morphology	An anomaly of the superior cerebellar peduncle.	12
Abnormal superior vena cava morphology	Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart.	78
Abnormal sweat gland morphology	Any structural abnormality of the sweat gland.	20
Abnormal sweat homeostasis	An abnormality of the composition of sweat or the levels of its components.	29
Abnormal synaptic transmission	An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process.	121
Abnormal synaptic transmission at the neuromuscular junction	Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers.	121
Abnormal synovial bursa morphology	A structural anomaly of a synovial bursa.	4
Abnormal synovial membrane morphology	Any structural anomaly of the synovium, which is a membrane that lines the cavity of synovial joints and consists of a lining layer of macrophage-like synoviocytes and fibroblast-like synoviocytes, as well as a sublining of connective tissue. Synovial cells are thought to contribute to joint homeostasis by secreting various factors such as hyaluronic acid and lubricin important for joint lubrication and function, as well as disposing of the waste products.	19
Abnormal talus morphology	An abnormality of the talus.	69
Abnormal tarsal bone mineral density	This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone.	3
Abnormal tarsal ossification	An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.	9
Abnormal temper tantrums	Temper tantrums are brief episodes of extreme, unpleasant, and sometimes aggressive behaviors in response to frustration or anger, which are a normal part of development in toddlers. Temper tantrums that occur more frequently in a given time and/or are more severe in symptomatology and/or longer in duration and/or inappropriate for the given age compared to a temper tantrum that naturally occurs as a part of the developmental process are classified as abnormal temper tantrums.	36
Abnormal temporal bone morphology	Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple.	5
Abnormal temporal lobe morphology	An abnormal structural of the zone (lobe) of the cerebral cortex that is located inferior to the lateral fissure on other cerebral hemispheres.	151
Abnormal thalamic MRI signal intensity	A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus.	24
Abnormal thalamic size	Deviation from the normal range of size of the thalamus.	10
Abnormal thalamus morphology	An abnormality of the thalamus.	47
Abnormal third toe morphology	An anomaly of the third toe.	10
Abnormal third ventricle morphology	An abnormality of the third ventricle.	16
Abnormal thoracic spine morphology	An abnormality of the thoracic vertebral column.	111
Abnormal thrombosis	Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).	209
Abnormal thymus morphology	Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation.	56
Abnormal thyroid morphology	A structural abnormality of the thyroid gland.	182
Abnormal thyroid-stimulating hormone level	Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.	46
Abnormal tibia morphology	Abnormality of the tibia (shinbone).	106
Abnormal tissue enzyme concentration or activity	Concentration of an enyzme in a tissue is above or between the limit of normal. This term is intended to be used for enzymes that can be measured in multiple tissues other than blood.	88
Abnormal tissue metabolite concentration	Any deviation from the normal concentration of a metabolite in a tissue.	270
Abnormal toenail morphology	An anomaly of the toenail.	166
Abnormal tongue physiology	Any functional anomaly of the tongue.	97
Abnormal total hemolytic complement activity	Any deviation from the normal total hemolytic complement activity in the circulation.	5
Abnormal total iron binding capacity	Any deviation from the normal total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added.	4
Abnormal trabecular bone morphology	Abnormal structure or form of trabecular bone.	33
Abnormal tracheal morphology	A structural anomaly of the trachea.	170
Abnormal tragus morphology	An abnormality of the tragus.	13
Abnormal transferrin saturation	Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity.	15
Abnormal tricuspid valve morphology	Any structural anomaly of the tricuspid valve.	47
Abnormal tricuspid valve physiology	Any functional defect of the tricuspid valve.	78
Abnormal tubular basement membrane morphology	Abnormal structure of the basement membrane of the renal tubulus.	6
Abnormal tubulointerstitial morphology	An abnormality that involves the tubules and interstitial tissue of the kidney.	56
Abnormal ulnar metaphysis morphology	Any structural abnormality of the portion of the ulna between the epiphysis and the diaphysis.	10
Abnormal umbilical stump bleeding	Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth.	8
Abnormal upper limb metaphysis morphology	An anomaly of one or more metaphyses of the arms.	17
Abnormal upper motor neuron morphology	Any structural anomaly that affects the upper motor neuron.	14
Abnormal upper to lower segment ratio	A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis.	3
Abnormal ureter morphology	A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.	157
Abnormal ureter physiology	A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.	242
Abnormal urinary color	An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color.	26
Abnormal urinary electrolyte concentration	An abnormality in the concentration of electrolytes in the urine.	125
Abnormal urinary hypoxanthine level	The concentration of hypoxanthine in the urine, normalized for urine concentration, is outside of normal limits.	3
Abnormal urinary nitrogen compound level	The amount of a nitrogen compound in the urine, normalized for urine concentration, is outside of normal limits.	3
Abnormal urinary nucleobase concentration	A deviation from the normal level of a nucleobase in the urine. Nucleobases are nitrogen-containing biological compounds that form nucleosides: adenine (A), cytosine (C), guanine (G), thymine (T), and uracil (U).	12
Abnormal urinary organic compound level	The amount of an organic compound in the urine, normalized for urine concentration, is outside the limits of normal. An organic compound is defined here as a chemical compound that contains a carbon-hydrogen or carbon-carbon bond, although some other definitions exist. Examples of organic compounds includes alkanes, alkenes, alkynes, aromatic compounds, alcohols, ketones, aldehydes, carboxylic acids, and esters.	68
Abnormal urinary purine level	Any deviation from the normal amount of a purine compound in the urine. Purines are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. Two of the four deoxyribonucleotides (deoxyadenosine and deoxyguanosine) and two of the four ribonucleotides (adenosine, or AMP, and guanosine, or GMP) are purines.	8
Abnormal urinary pyrimidine level	Any deviation from the normal amount of a pyrimidine compound in the urine. Pyrimidines and pyrimidine derivatives are compounds containing a pyrimidne ring, which is a six-member aromatic heterocycle which consists of two nitrogen atoms (at positions 1 and 3) and four carbon atoms. The nucleotides cytosine, thymine and uracil are pyrimidines.	4
Abnormal urinary sulfate concentration	Abnormal concentration of sulfate in the urine.	3
Abnormal urine alpha-ketoglutarate concentration	A deviation from normal of the concentration of 2-oxoglutaric acid in the urine.	14
Abnormal urine carbohydrate level	Any deviation from the normal concentration of a carbohydrate in the urine.	36
Abnormal urine carboxylic acid level	Any deviation from the normal concentration of a carboxylic acid in the urine.	130
Abnormal urine chloride concentration	An abnormal concentration of chloride in the urine.	5
Abnormal urine cytology	An anomalous finding in the examination of the urine for cells.	187
Abnormal urine hormone level	An abnormal concentration of a hormone in the urine.	19
Abnormal urine magnesium concentration	An abnormal concentration of magnesium the urine.	9
Abnormal urine osmolality	A deviation from the normal range of concentration of particles in urine.	9
Abnormal urine output	An abnormal amount of urine production.	69
Abnormal urine pH	A deviation of urine pH from the normal range of 4.5 to 7.8.	147
Abnormal urine phosphate concentration	An abnormal phosphate concentration in the urine.	33
Abnormal urine potassium concentration	An abnormal concentration of potassium(1+) in the urine.	18
Abnormal urine protein level	Any deviation of the concentration of one or more proteins in the urine.	267
Abnormal urine sodium concentration	An abnormal concentration of sodium in the urine.	18
Abnormal uterine cervix morphology	An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix.	13
Abnormal uterus morphology	Any anomaly of the structure of the uterus	155
Abnormal uvula morphology	Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate.	194
Abnormal vagina morphology	Any structural abnormality of the vagina.	127
Abnormal vas deferens morphology	A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct.	22
Abnormal vena cava morphology	An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava.	82
Abnormal venous morphology	An anomaly of vein.	156
Abnormal ventricular axis	Any deviation from the normal direction of the ventricular axis. The left ventricle makes up most of the heart muscle under normal circumstances and therefore generates the most electrical force visible on the EKG. The normal ventricular axis is directed downward and slightly towards the left. The ventricular axis can be determined by analyzing the QRS complex, which represents ventricular depolarization.	5
Abnormal ventriculoarterial connection	An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta.	271
Abnormal vertebral artery morphology	An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system.	4
Abnormal vestibular function	An abnormality of the functioning of the vestibular apparatus.	212
Abnormal vestibulo-ocular reflex	An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude.	8
Abnormal visual accommodation	An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power.	5
Abnormal visual field test	Abnormal result of a test designed to test an individual's central and peripheral vision by determining the ability of the individual to perceive objects at differing locations of the visual field.	21
Abnormal visual fixation	Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location.	31
Abnormal vitreous humor morphology	Any structural anomaly of the vitreous body.	49
Abnormal vocal cord morphology	An abnormality of the vocal cord.	8
Abnormal waist to hip ratio	A deviation from normal of the waist to hip ratio, defined as the waist measurement divided by hip measurement.	36
Abnormal zygomatic bone morphology	An abnormality of the zygomatic bone.	250
Abnormalities of placenta or umbilical cord	An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta).	114
Abnormality morphology of the macular vasculature	Any structural anomaly of the blood vessels of the macula.	6
Abnormality nasal septum cartilage morphology	An abnormality of a cartilage of nasal septum.	4
Abnormality of B cell physiology	An abnormality of the physiological functioning of B cells.	290
Abnormality of DNA repair	An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage.	19
Abnormality of Krebs cycle metabolism	An abnormality of the tricarboxylic acid cycle.	19
Abnormality of T cell physiology	A functional anomaly of T cells.	61
Abnormality of abdominal situs	An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs.	20
Abnormality of adrenal physiology	A functional abnormality of the adrenal glands.	113
Abnormality of alkaline phosphatase level	An abnormality of alkaline phosphatase level.	130
Abnormality of amino acid metabolism	Abnormality of an amino acid metabolic process.	8
Abnormality of binocular vision	An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth.	93
Abnormality of blood volume homeostasis	An abnormality in the amount of volume occupied by intravascular blood.	32
Abnormality of body mass index	Anomaly in the weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of obesity and underweight compared to averages.	31
Abnormality of canine	An abnormality of canine tooth.	17
Abnormality of cartilage of external ear	An abnormality of a cartilage of external ear.	15
Abnormality of central motor conduction	Any anomaly of the conduction of motor nerve impulses in the central nervous system.	3
Abnormality of chromosome segregation	An abnormality of chromosome segregation.	14
Abnormality of chromosome stability	A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration.	55
Abnormality of circulating beta-2-microglobulin level	A deviation from the normal concentration of beta-2-microglobulin in the blood.	5
Abnormality of circulating catecholamine level	An abnormal catecholamine concentration in the blood.	11
Abnormality of circulating cortisol level	An abnormality of the concentration of cortisol in the blood.	66
Abnormality of circulating fibrinogen	An abnormality of the level of activity of circulating fibrinogen.	48
Abnormality of circulating glucocorticoid level	An abnormality of the concentration of a glucocorticoid in the blood.	67
Abnormality of coagulation	An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot.	232
Abnormality of complement system	An abnormality of the complement system.	61
Abnormality of corneal size	Any abnormality of the size or morphology of the cornea.	179
Abnormality of cytokine secretion	An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells).	7
Abnormality of dental color	A developmental defect of tooth color.	34
Abnormality of dental eruption	An abnormality of tooth eruption.	240
Abnormality of dermal melanosomes	An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis).	7
Abnormality of endocrine pancreas physiology	A function abnormality of the endocrine pancreas.	31
Abnormality of exocrine pancreas physiology	A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes.	74
Abnormality of fibrinolysis	Clinical phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis)	5
Abnormality of folate metabolism	An abnormality of the metabolism of folic acid, which is also known as vitamin B9.	14
Abnormality of foveal pigmentation	An anomaly of the pigmentation in the fovea centralis.	8
Abnormality of frontal sinus	An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone.	15
Abnormality of fundus pigmentation	Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve.	44
Abnormality of glycolipid metabolism	An abnormality of glycolipid metabolism.	12
Abnormality of glycolysis	An abnormality of glycolysis.	58
Abnormality of glycosaminoglycan metabolism	Abnormality of glycosaminoglycan metabolism.	4
Abnormality of hair growth rate	Hair whose growth rate deviates from the norm.	29
Abnormality of hair pigmentation	An abnormality of hair pigmentation (color).	117
Abnormality of hair texture	An abnormality of the texture of the hair.	189
Abnormality of hepatobiliary system physiology	A functional anomaly of the hepatobiliary system	218
Abnormality of intracranial pressure	A deviation from the norm of the intracranial pressure.	90
Abnormality of iron homeostasis	An abnormality of the homeostasis (concentration) of iron cation.	28
Abnormality of lens shape	An abnormal shape of the lens.	18
Abnormality of lipoprotein cholesterol concentration	An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood.	92
Abnormality of macular pigmentation	Abnormality of macular or foveal pigmentation.	45
Abnormality of masseter muscle	An abnormality of a masseter muscle.	5
Abnormality of masticatory muscle	Any abnormality of the masticatory muscle.	26
Abnormality of mitochondrial metabolism	A functional anomaly of mitochondria.	210
Abnormality of molar	An abnormality of molar tooth.	58
Abnormality of mouth shape	An abnormality of the outline, configuration, or contour of the mouth.	288
Abnormality of mucopolysaccharide metabolism	An abnormality of the metabolism of mucopolysaccharide.	4
Abnormality of muscle of facial expression	An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression.	3
Abnormality of nail color	An anomaly of the color of the nail.	19
Abnormality of neutrophil physiology	A functional abnormality of neutrophils.	17
Abnormality of neutrophils	A neutrophil abnormality.	268
Abnormality of ocular abduction	An abnormality involving the movement of the eye outwards.	13
Abnormality of ocular smooth pursuit	An abnormality of eye movement characterized by impaired smooth-pursuit eye movements.	73
Abnormality of orbicularis oris muscle	An abnormality of an orbicularis oris muscle.	3
Abnormality of pain sensation	Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain.	110
Abnormality of pancreas physiology	An anomaly of the function of the pancreas.	186
Abnormality of peripheral nerve conduction	An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS).	146
Abnormality of peripheral nervous system electrophysiology	An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles.	173
Abnormality of pineal physiology	A functional abnormality of the pineal gland.	8
Abnormality of premolar	An abnormality of premolar tooth.	13
Abnormality of primary teeth	Any abnormality of the primary tooth.	82
Abnormality of prothrombin	An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade.	52
Abnormality of pulmonary circulation	A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart.	204
Abnormality of renal excretion	An altered ability of the kidneys to void urine and/or specific substances.	75
Abnormality of renin-angiotensin system	An abnormality of the renin-angiotensin system.	55
Abnormality of secondary sexual hair	Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair.	77
Abnormality of skeletal muscle fiber size	Any abnormality of the size of the skeletal muscle cell.	120
Abnormality of skin adnexa physiology	Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.	235
Abnormality of skull ossification	An abnormality of the process of ossification of the skull.	47
Abnormality of somatic nerve plexus	Any abnormality of the somatic nerve plexus.	3
Abnormality of somatosensory evoked potentials	An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex.	20
Abnormality of the Achilles tendon	An abnormality of the Achilles tendon.	64
Abnormality of the acoustic reflex	An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation.	5
Abnormality of the adrenal glands	Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys.	198
Abnormality of the ankle	An anomaly of the joint that connects the foot with the leg.	192
Abnormality of the anterior commissure	An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts.	7
Abnormality of the anus	Abnormality of the anal canal.	240
Abnormality of the autonomic nervous system	An abnormality of the autonomic nervous system.	297
Abnormality of the axillary hair	Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty.	55
Abnormality of the brachial nerve plexus	Any abnormality of the brachial nerve plexus.	3
Abnormality of the calcaneus	An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel.	36
Abnormality of the cell cycle	An abnormality of the cell cycle.	4
Abnormality of the clivus	An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum.	3
Abnormality of the coagulation cascade	An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators.	161
Abnormality of the cochlear nerve	Any anomaly of the cohclear nerve, which is the part of the vestibulocochlear nerve that is responsible for transmitting auditory signals from the inner ear to the cochlear nuclei within the brainstem and ultimately to the primary auditory cortex within the temporal lobe.	3
Abnormality of the common coagulation pathway	An abnormality of blood coagulation, common pathway.	68
Abnormality of the costochondral junction	Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.	21
Abnormality of the crus of the helix	An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear.	11
Abnormality of the diaphragm	Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity.	125
Abnormality of the distal femoral epiphysis	Any abnormality of the distal epiphysis of the femur.	4
Abnormality of the distal phalanx of the 5th finger	Abnormality of the distal phalanx of the 5th (little) finger.	34
Abnormality of the distal phalanx of the thumb	Any anomaly of the distal phalanx of thumb.	33
Abnormality of the dorsal column of the spinal cord	An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus.	6
Abnormality of the elbow	An anomaly of the joint that connects the upper and the lower arm.	277
Abnormality of the epiphyses of the distal phalanx of finger	Any anomaly of distal epiphysis of phalanx of finger.	6
Abnormality of the epiphyses of the feet	Any abnormality of the epiphyses of the feet.	7
Abnormality of the epiphysis of the femoral head	Any abnormality of the proximal epiphysis of the femur.	82
Abnormality of the extraocular muscles	An abnormality of an extraocular muscle.	11
Abnormality of the extrinsic pathway	An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade.	20
Abnormality of the falx cerebri	An abnormality of the Falx cerebri.	26
Abnormality of the fifth metatarsal bone	An anomaly of the fifth metatarsal bone.	9
Abnormality of the first metatarsal bone	An anomaly of the first metatarsal bone.	12
Abnormality of the foot musculature	An anomaly of the musculature of foot.	11
Abnormality of the frontal hairline	An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not.	214
Abnormality of the gallbladder	An abnormality of the gallbladder.	112
Abnormality of the gingiva	Any abnormality of the gingiva (also known as gums).	236
Abnormality of the glabella	An abnormality of the glabella.	29
Abnormality of the glenoid fossa	An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.	8
Abnormality of the hairline	The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair.	292
Abnormality of the hepatic vasculature	An abnormality of the hepatic vasculature.	90
Abnormality of the humeral epiphysis	An anomaly of the humeral epiphysis.	4
Abnormality of the humerus	An abnormality of the humerus (i.e., upper arm bone).	63
Abnormality of the hypothenar eminence	An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger).	7
Abnormality of the incisor	An abnormality of the Incisor tooth.	107
Abnormality of the inner ear	An abnormality of the inner ear.	97
Abnormality of the internal auditory canal	An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse.	22
Abnormality of the internal capsule	An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus.	4
Abnormality of the intrinsic pathway	An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade.	37
Abnormality of the larynx	An abnormality of the larynx.	218
Abnormality of the medullary cavity of the long bones	An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored.	3
Abnormality of the metopic suture	'The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a \''metopic suture\''.'	96
Abnormality of the middle ear ossicles	An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).	25
Abnormality of the midnasal cavity	Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae.	15
Abnormality of the mitochondrion	An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration.	234
Abnormality of the musculature of the thorax	A disease or lesion affecting the muscles of the thorax.	8
Abnormality of the ovary	An abnormality of the ovary.	230
Abnormality of the palmar creases	An abnormality of the creases of the skin of palm of hand.	259
Abnormality of the pancreatic islet cells	An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin.	28
Abnormality of the parathyroid gland	An abnormality of the parathyroid gland.	95
Abnormality of the parathyroid physiology	A functional abnormality of the parathyroid gland.	83
Abnormality of the periorbital region	An abnormality of the region situated around the orbit of the eye.	271
Abnormality of the periungual region	An abnormality of the region around the nails of the fingers or toes.	22
Abnormality of the phalanges of the 2nd finger	Abnormality of the phalanges of the 2nd (index) finger.	18
Abnormality of the pharynx	An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.	229
Abnormality of the pineal gland	An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin.	20
Abnormality of the plantar skin of foot	An abnormality of the plantar part of foot, that is of the soles of the feet.	171
Abnormality of the posterior hairline	An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair.	116
Abnormality of the premaxilla	An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate.	12
Abnormality of the protein C anticoagulant pathway	An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC.	14
Abnormality of the proximal phalanx of the 5th finger	Abnormality of the proximal phalanx of the little (5th) finger.	5
Abnormality of the proximal phalanx of the thumb	An anomaly of the shape or form of the proximal phalanx of the thumb.	10
Abnormality of the proximal tibial epiphysis	Any abnormality of the proximal epiphysis of the tibia.	4
Abnormality of the pubic hair	Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty.	57
Abnormality of the pulmonary artery	An abnormality of the pulmonary artery.	141
Abnormality of the pulmonary veins	An abnormality of the pulmonary veins.	83
Abnormality of the pylorus	An abnormality of the pylorus.	107
Abnormality of the sense of smell	An anomaly in the ability to perceive and distinguish scents (odors).	125
Abnormality of the somatic nervous system	Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements.	3
Abnormality of the spinocerebellar tracts	An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract.	12
Abnormality of the subungual region	A lesion located beneath a fingernail or toenail.	12
Abnormality of the supraorbital ridges	An anomaly of the supraorbital portion of the frontal bones.	115
Abnormality of the tarsal bones	An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone.	130
Abnormality of the temporomandibular joint	An anomaly of the temporomandibular joint.	19
Abnormality of the testis size	An anomaly of the size of the testicle (the male gonad).	224
Abnormality of the thenar eminence	An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb.	35
Abnormality of the tonsils	An abnormality of the tonsils.	38
Abnormality of the umbilical cord	An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta.	68
Abnormality of the urachus	Abnormality of the urachus.	4
Abnormality of the uterus	An abnormality of the uterus.	255
Abnormality of the vertebral endplates	Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral disks.	38
Abnormality of the wrist	Abnormality of the wrist, the structure connecting the hand and the forearm.	167
Abnormality of thumb epiphysis	Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal.	3
Abnormality of thumb phalanx	A structural anomaly of one or more phalanges of the thumb.	201
Abnormality of toe proximal phalanx	A morphological anomaly of one or more proximal phalanges of one or more toes.	3
Abnormality of tumor necrosis factor secretion	An abnormality in the production or cellular release of tumor necrosis factor.	6
Abnormality of urinary uric acid level	Abnormal amount of urate in the urine.	14
Abnormality of urine bicarbonate level	An abnormal amount of hydrogencarbonate in the urine.	6
Abnormality of urine calcium concentration	An abnormality of calcium concentration in the urine.	75
Abnormality of urine catecholamine level	An abnormal amount of urinary catecholamine concentration.	27
Abnormality of venous physiology	An anomaly of venous function.	13
Abnormality of visual evoked potentials	An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex.	71
Abnormality of vitamin K metabolism	Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade.	13
Abnormality of vitamin metabolism	An anomaly in the metabolism of a vitamin.	101
Abnormality of von Willebrand factor	Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.	22
Abnormality on pulmonary function testing	Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography.	224
Abnormally folded helix	Any structural anomaly of the border of the helix, which usually forms a rolled rim but is highly variable in shape.	90
Abnormally high-pitched voice	A persistent (minutes to hours) abnormal increase in the pitch (frequency) of the voice for the context or social situation or significantly different from baseline of the individual.	47
Abnormally large globe	Diffusely large eye (with megalocornea) without glaucoma.	45
Abnormally low T cell receptor excision circle level	Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-na챦ve thymic emigrant T cells.	9
Abnormally low-pitched voice	A persistent (minutes to hours) abnormal decrease in the pitch of the voice for the context or social situation or significantly different from the baseline of the individual.	13
Abnormally ossified vertebrae	An abnormality of the formation and mineralization of one or more vertebrae.	26
Abnormally slow thought process	An inner sense from the self that thoughts are abnormally slow and the individual feels that they are unable to increase their rate of thinking. The primary pathology is the decreased rate and other qualities of thinking (e.g. naming of objects) are intact, just slowed. This may be associated with slowed speech, but may be internal and masked by speech that is limited to brief (yes or no) answers.	6
Abolished vibration sense	A complete loss of the ability to perceive vibration.	4
Aborted sudden cardiac death	Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it.	4
Abscess	An abscess is a localized collection of purulent material surrounded by inflammation and granulation.	78
Absence of acoustic reflex	Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli.	5
Absence of bactericidal oxidative respiratory burst in phagocytes	An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity.	5
Absence of lymph node germinal center	Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses.	6
Absence of renal corticomedullary differentiation	A lack of differentiation between renal cortex and medulla on diagnostic imaging.	7
Absence of secondary sex characteristics	No secondary sexual characteristics are present at puberty.	44
Absence of stomach bubble on fetal sonography	By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation.	7
Absence of subcutaneous fat	Lack of subcutaneous adipose tissue.	18
Absence of the sacrum	Absence (aplasia) of the sacrum.	8
Absent Achilles reflex	Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.	46
Absent P wave	The P wave that normally precedes each QRS complex by a fixed PR interval of 120 to 200 milliseconds is not present.	3
Absent axillary hair	Absence of axillary hair.	13
Absent brainstem auditory responses	Lack of measurable response to stimulation of auditory evoked potentials.	12
Absent circulating B cells	Complete lack of mature B cells, that is, of B cells that have left the bone marrow.	7
Absent corneal reflex	Absence of the corneal blinking reflex, which normally induces involuntary blinking of the eyelids following contact of the cornea. The corneal blink reflex is caused by a loop between the trigeminal sensory nerves and the facial motor (VII) nerve innervation of the orbicularis oculi muscles.	3
Absent cupid's bow	Lack of paramedian peaks and median notch of the upper lip vermilion.	4
Absent distal interphalangeal creases	Absence of the distal interphalangeal flexion creases of the fingers.	6
Absent distal phalanges	Aplasia (absence) of the distal phalanges.	7
Absent earlobe	Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura.	20
Absent external genitalia	Lack of external genitalia in a male or female individual.	3
Absent eyebrow	Absence of the eyebrow.	35
Absent eyelashes	Lack of eyelashes.	33
Absent facial hair	Absence of facial hair.	38
Absent fingernail	Absence of a fingernail.	40
Absent forearm bone	Absence of one or more forearm bones associated with congenital failure of development.	28
Absent foveal reflex	Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.	19
Absent frontal sinuses	Aplasia of frontal sinus.	8
Absent gallbladder	A developmental defect in which the gallbladder fails to form.	7
Absent glenoid fossa	Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.	4
Absent hand	The total absence of the hand, with no bony elements distal to the radius or ulna.	19
Absent inner and outer dynein arms	Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.	4
Absent inner dynein arms	Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.	8
Absent isohemagglutinin level	Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).	3
Absent lacrimal punctum	No identifiable superior and/or inferior lacrimal punctum.	6
Absent lower eyelashes	Lack of eyelashes on the lower lid.	3
Absent metatarsal bone	A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone.	4
Absent middle phalanx of 2nd finger	Absence of the middle phalanx of the index (2nd) finger.	3
Absent middle phalanx of 5th finger	Absence of the middle phalanx of the little (5th) finger.	3
Absent muscle fiber emerin	Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy.	6
Absent muscle fiber merosin	Lack of merosin protein in the muscle biopsy.	4
Absent nares	The nostrils (the paired channels of the nose) are not present.	3
Absent nasal septal cartilage	Lack of the cartilage of the nasal septum.	3
Absent nipple	Congenital failure to develop, and absence of, the nipple.	11
Absent outer dynein arms	Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.	11
Absent palmar crease	The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease).	13
Absent patellar reflexes	Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella.	13
Absent peripheral lymph nodes in presence of infection	The absence of any palpable lymph nodes in the presence of symptoms suggesting infection in that drainage area should raise suspicion for immunodeficiency diseases.	3
Absent phalangeal crease	Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers).	16
Absent platelet dense granules	Lack of platelet dense granules, a type of platelet organelles.	4
Absent proximal finger flexion creases	Absence of the proximal interphalangeal flexion creases of the fingers.	3
Absent pubertal growth spurt	The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur.	5
Absent pubic hair	Absence of pubic hair.	9
Absent pulse	The pulsation of an artery where the pulse is taken (e.g. the radial artery at the wrist) cannot be detected on physical examination.	3
Absent radius	Missing radius bone associated with congenital failure of development.	27
Absent septum pellucidum	Absence of the septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius. The septum pellucidum is a thin, triangular double membrane separating the frontal horns of the right and left lateral ventricles of the brain. It extends between the anterior portion of the corpus callosum, and the body of the fornix and its width varies from 1.5 to 3.0 mm.	68
Absent skin pigmentation	Lack of skin pigmentation (coloring).	5
Absent smooth pursuit	A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.	4
Absent sperm axoneme central pair complex	Absence of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern.	7
Absent sperm flagella	Sperm cells lacking flagella.	28
Absent sternal ossification	Lack of formation of mineralized bony tissue of the sternum.	5
Absent testis	Testis not palpable in the scrotum or inguinal canal.	25
Absent thumb	Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.	58
Absent thumbnail	Absence of thumb nail.	20
Absent tibia	Absence of the tibia.	7
Absent toe	Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues.	70
Absent toenail	Congenital absence of the toenail.	19
Absent tonsils	Lack of observable tonsillar tissue.	3
Absent uvula	Lack of the uvula.	3
Absent vas deferens	Aplasia (congenital absence) of the vas deferens.	22
Absent vestibular function	Complete lack of functioning of the vestibular apparatus.	4
Absent/hypoplastic paranasal sinuses	Aplasia or hypoplasia of the paranasal sinuses.	6
Abulia	Abulia is characterized by difficulty in initiating and sustaining spontaneous movements; the person often appears frozen but will move hesitantly on request. There are frequently substantial reductions in emotional responsiveness, spontaneous speech, and social interaction. The individual appears to be content to remain still and inactive with minimal movement, but moves or reacts hesitantly in response to interactions.	10
Acanthocytosis	Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.	12
Acantholysis	The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.	10
Acanthosis nigricans	A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.	63
Accelerated atherosclerosis	Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors.	8
Accelerated skeletal maturation	An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.	69
Accessory oral frenulum	Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip.	19
Accessory spleen	An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance.	36
Accommodative esotropia	A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex.	3
Acephalic spermatozoa	Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head.	7
Acetabular dysplasia	A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain.	24
Acetabular spurs	The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum.	7
Achalasia	A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus.	16
Achilles tendon contracture	A contracture of the Achilles tendon.	54
Acholic stools	Clay colored stools lacking bile pigment.	9
Achromatic retinal patches	Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disk diameter in size and tending to be located in the midperiphery of the retina.	3
Achromatopsia	A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult.	5
Acidemia	An abnormally low blood pH (usually defined as less than 7.35).	25
Aciduria	Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration.	144
Acne	A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).	70
Acne inversa	A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses.	13
Acquired abnormal hair pattern	An abnormality of the distribution of hair growth that is acquired during the course of life.	44
Acral blistering	Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet).	9
Acral overgrowth	Excessive growth of hands and feet (predominantly due to soft tissue swelling). Typical manifestations include shoe size increase, foot enlargement, glove tightness, and hand enlargement.	7
Acral ulceration	A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe.	9
Acrocyanosis	Bluish discoloration of the skin of the hands or feet.	36
Acrokeratosis	Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet.	3
Acromesomelia	Small hands and feet.	5
Acromicria	Small hands and feet in proportion to the rest of the body.	13
Acroparesthesia	A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes.	10
Action myoclonus	A type of myoclonus (arrhythmic muscular jerking) that is induced by voluntary movement. It is made worse by attempts at precise or coordinated movement (intention myoclonus) and may also be provoked by certain sensory stimuli.	4
Action tremor	A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.	208
Acute coronary syndrome	The term acute coronary syndrome (ACS) refers to any group of clinical symptoms compatible with acute myocardial ischemia and includes unstable angina (UA), non-ST-segment elevation myocardial infarction (NSTEMI), and ST-segment elevation myocardial infarction (STEMI).	111
Acute hepatic failure	Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver.	35
Acute hyperammonemia	An increased concentration of ammonia in the blood with sudden onset.	4
Acute infectious pneumonia	Acute inflammation of the lung due to an infection.	6
Acute kidney injury	Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).	44
Acute leukemia	A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).	120
Acute lymphoblastic leukemia	A form of acute leukemia characterized by excess lympoblasts.	38
Acute monocytic leukemia	The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation.	3
Acute myeloid leukemia	A form of leukemia characterized by overproduction of an early myeloid cell.	76
Acute otitis media	Acute otitis media is a short and generally painful infection of the middle ear.	5
Acute pancreatitis	A acute form of pancreatitis.	10
Acute phase response	Presence of one or more manifestations of the acute phase response. Acute phase proteins (APP) are blood proteins primarily synthesized by hepatocytes as part of the acute phase response (APR). The APR is part of the early-defense or innate immune system, which is triggered by different stimuli including trauma, infection, stress, neoplasia, and inflammation. The APR results in a complex systemic reaction with the goal of reestablishing homeostasis and promoting healing.	201
Acute promyelocytic leukemia	A type of acute myeloid leukemia in which abnormal promyelocytes predominate.	3
Acute respiratory distress syndrome	Acute respiratory distress syndrome (ARDS) is defined as an acute disorder that starts within seven days of the inciting event and is characterized by bilateral lung infiltrates and severe progressive hypoxemia in the absence of any evidence of cardiogenic pulmonary edema. ARDS is defined by the patient's oxygen in arterial blood (PaO2) to the fraction of the oxygen in the inspired air (FiO2). These patients have a PaO2/FiO2 ratio of less than 300.	3
Acute rhabdomyolysis	An acute form of rhabdomyolysis.	5
Addictive alcohol use	An addictive behavior is defined as drinking excessive amounts of alcohol over a prolonged period of time, having difficulty in reducing the amount of alcohol consumed, strongly desiring alcohol, and experiencing withdrawal symptoms when not drinking alcohol.	27
Addictive behavior	When an activity, substance, object, or behavior becomes a major focus of a person's life, excluding other activities, or has begun to harm the individual or others physically, mentally, or socially, it can be considered addictive behavior. A person can become addicted or compulsively engaged with anything.	27
Additional crus of antihelix	Supernumerary ridge or crus of the ear arising from the antihelix.	3
Adducted thumb	In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.	112
Adenocarcinoma of the intestines	A malignant epithelial tumor with a glandular organization that originates in the intestines.	43
Adenocarcinoma of the large intestine	A malignant epithelial tumor with a glandular organization that originates in the large intestine.	39
Adenocarcinoma of the small intestine	A malignant epithelial tumor with a glandular organization that originates in the small intestine.	9
Adenoma sebaceum	The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin.	25
Adenomatous colonic polyposis	Presence of multiple adenomatous polyps in the colon.	17
Adipose tissue loss	A loss of adipose tissue.	34
Adrenal calcification	Calcification within the adrenal glands.	8
Adrenal gland dysgenesis	Abnormal development of the adrenal gland.	3
Adrenal hyperplasia	Enlargement of the adrenal gland.	25
Adrenal hypoplasia	Developmental hypoplasia of the adrenal glands.	36
Adrenal insufficiency	Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands.	81
Adrenal pheochromocytoma	Pheochromocytoma originating from the adrenal medulla.	18
Adrenocortical adenoma	Adrenocortical adenomas are benign tumors of the adrenal cortex.	9
Adrenocortical carcinoma	A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone.	18
Adrenocortical cytomegaly	The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex.	4
Adrenocorticotropic hormone deficiency	A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol.	15
Adrenocorticotropic hormone excess	Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex.	5
Adrenocorticotropin deficient adrenal insufficiency	Adrenal insufficiency secondary to a defect in ACTH production.	6
Adrenogenital syndrome	Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects.	4
Adult onset sensorineural hearing impairment	The presence of sensorineural deafness with late onset.	5
Adult-onset night blindness	Inability to see well at night or in poor light with onset in adulthood.	3
Advanced eruption of teeth	Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age.	46
Advanced ossification of carpal bones	Ossification of carpal bones at an abnormally early age.	10
Advanced tarsal ossification	Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.	4
Afibrinogenemia	Lack of detectable fibrinogen in the blood circulation.	3
Agammaglobulinemia	A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured.	19
Aganglionic megacolon	An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.	149
Agenesis of central incisor	Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor.	14
Agenesis of cerebellar vermis	Congenital absence of the vermis of cerebellum.	18
Agenesis of first permanent molar tooth	Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both.	12
Agenesis of incisor	Agenesis of incisor.	36
Agenesis of mandibular premolar	Agenesis of mandibular premolar.	12
Agenesis of maxillary lateral incisor	Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor.	17
Agenesis of molar	Agenesis of molar tooth.	13
Agenesis of permanent molar	Agenesis of secondary molar tooth.	12
Agenesis of permanent teeth	A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.	23
Agenesis of premolar	Agenesis of premolar tooth.	13
Aggressive behavior	Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).	292
Agitation	A state of excessive motor activity that is associated with mental distress or a feeling of substantial unease or inner tension. Distinguished from restlessness by the increased level of emotional distress and negative intensity of the experience. Agitation has a significant level of physical activity that is typically threatening to the self or others.	76
Agoraphobia	A type of anxiety disorder characterized by the avoidance of public places, especially where crowds gather.	3
Agranulocytosis	Marked decrease in the number of granulocytes.	3
Agyria	A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm.	18
Airway hyperresponsiveness	An increased sensitivity of the airways to an inhaled constrictor agonist, a steeper slope of the dose-response curve, and a greater maximal response to the agonist.	8
Airway obstruction	Obstruction of conducting airways of the lung.	132
Akathisia	A state of motor restlessness, usually in the lower extremities, that is often but not always accompanied by a subjective sense of inner restlessness, an urge to move, and anxiety or dysphoria.	30
Akinesia	Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.	39
Akinetic mutism	The combined absence of spontaneous movement (akinesia) and speech (mutism). There may be eye movements consistent with visual tracking and the person may remember the events occurring at the time of the experience of stupor.	4
Alacrima	Absence of tear secretion.	18
Albinism	An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).	20
Albuminuria	Increased concentration of albumin in the urine.	22
Alexia	An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read.	7
Alien limb phenomenon	Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb.	4
Alkalosis	Depletion of acid or accumulation base in the body fluids.	30
Allergic rhinitis	It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea.	13
Allergy	An allergy is an immune response or reaction to substances that are usually not harmful.	41
Allodynia	Pain due to a stimulus that does not normally provoke pain.	5
Almond-shaped palpebral fissure	A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point.	57
Alobar holoprosencephaly	A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged.	9
Alopecia	A noncongenital process of hair loss, which may progress to partial or complete baldness.	260
Alopecia totalis	Loss of all scalp hair.	14
Alopecia universalis	Loss of all hair on the entire body.	11
Alpha-aminoadipic aciduria	The concentration of alpha-aminoadipic acid in the urine, normalized for urine concentration, is above the upper limit of normal.	3
Alternating esotropia	Esotropia in which either eye may be used for fixation.	10
Alternating exotropia	A type of exotropia in which either eye may be used for fixation.	4
Alveolar cell carcinoma	Adenocarcinoma of the Bronchus.	18
Alveolar ridge overgrowth	Increased width of the alveolar ridges.	15
Alzheimer disease	A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads.	9
Amaurosis fugax	A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition.	41
Ambiguous genitalia	A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.	123
Ambiguous genitalia, female	Ambiguous genitalia in an individual with XX genetic gender.	9
Ambiguous genitalia, male	Ambiguous genitalia in an individual with XY genetic gender.	12
Amblyopia	Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.	112
Amegakaryocytic thrombocytopenia	Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes.	6
Amelia	Congenital absence (aplasia) of one or more limbs.	5
Amelogenesis imperfecta	A developmental dysplasia of the dental enamel.	33
Amenorrhea	Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.	200
Aminoaciduria	An increased concentration of an amino acid in the urine.	136
Amniotic constriction ring	Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands.	11
Amplification of sexual behavior	An abnormal increase of libido (sexual desire), typically accompanied by a higher frequency of sexual activity compared to from a person's previous norm.	5
Amplification of social interactions	A increase in the tendency of a person to seek or maintain social connections or interactions with others compared to previous norms for an individual.	5
Amyloidosis	The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body.	50
Amyoplasia	Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue.	4
Anal atresia	Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.	142
Anal fissure	A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus.	5
Anal fistula	An abnormal connection between the epithelialised surface of the anal canal and the perianal skin.	9
Anal margin neoplasm	A tumor of the anal margin.	4
Anal margin squamous cell carcinoma	A squamous cell carcinoma that originates in the skin of the anal margin.	4
Anal neoplasm	A benign or malignant neoplasm that affects the anal canal or anal margin.	3
Anal stenosis	Abnormal narrowing of the anal opening.	34
Anaphylactic shock	An acute hypersensitivity reaction due to exposure to a previously encountered antigen.	8
Anarthria	A defect in the motor ability that enables speech.	16
Anasarca	An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space.	10
Androgen insufficiency	Insufficient amount of androgenic activity.	5
Anemia due to reduced life span of red cells	A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days.	170
Anemia of inadequate production	A kind of anemia characterized by inadequate production of erythrocytes.	199
Anemic pallor	A type of pallor that is secondary to the presence of anemia.	15
Anencephaly	Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development.	34
Anger	Persistent or frequent inner feelings of anger, irritability, or resentment that may be in response to an action or statement by others that is perceived to be a slight or challenge to the person regardless of the nature. Anger may also occur or arise spontaneously in the absence of any provocation and can be directed to another person or social entity.	3
Angina pectoris	Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.	38
Angioedema	Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis.	13
Angiofibromas	Angiofibroma consist of many often dilated vessels.	30
Angioid streaks of the fundus	Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic.	10
Angiokeratoma	Angiokeratomas are hyperkeratotic papules that are characterized histologically by superficial ectatic (i.e., dilated) blood vessels with epidermal proliferation. Clinically, angiokeratoma presents as a small, raised, dark-red spot.	6
Angiokeratoma corporis diffusum	Angiokeratoma corporis diffusum (ACD) is typically characterized by innumerable small red to black papules which occur in clusters and are situated symmetrically in the bathing trunks area. The number of lesions and the extension of the body increase steadily with time so that generalization and mucosal involvement are common. The single lesion begins with a minute reddish papule which enlarges to up to 10 mm in diameter, becomes dark red to black with a discrete keratotic overgrowth. Histologically, the papules are characterized by superficial dilated capillaries in papillary dermis with epidermal proliferation.	4
Angle closure glaucoma	A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact).	7
Angular cheilitis	A type of inflammation of the lips involving one or both of the corners of the mouth.	12
Angulated muscle fibers	Normal muscle fibers are polygonal-shaped in cross section, are multinucleated, and have minimal amounts of endomysial connective tissue. In contrast, angulated (also known as angular) muscle fibers have long and narrow vertices (corners) with sharp edges and a pointed tip.	8
Anhidrosis	Inability to sweat.	38
Anhydramnios	A complete or near-complete lack of amniotic fluid surrounding a fetus. This finding can be observed sonographically in the third trimesters if the deepest pocket of amniotic fluid is less than or equal to 2 cm.	6
Aniridia	Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris.	45
Anisocoria	Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.	15
Anisocytosis	Abnormally increased variability in the size of erythrocytes.	22
Anisometropia	Inequality of refractive power of the two eyes.	6
Anisopoikilocytosis	A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes.	10
Anisospondyly	Abnormally increased variability of the size of the vertebral bodies.	4
Ankle clonus	Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.	60
Ankle pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle.	6
Ankle weakness	Reduced strength of the muscles that lift or otherwise move the foot at the ankle.	17
Ankyloblepharon	Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.	16
Ankyloglossia	Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue.	29
Ankylosis	A reduction of joint mobility resulting from changes involving the articular surfaces.	19
Annular pancreas	A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum.	26
Anodontia	The absence of all teeth from the normal series by a failure to develop.	18
Anomalous origin of one pulmonary artery from ascending aorta	Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle.	3
Anomalous origin of the left common carotid artery from the brachiocephalic artery	The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery.	3
Anomalous pulmonary venous return	A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood.	77
Anomalous tracheal cartilage	An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue).	4
Anomalous trichromacy	Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones.	11
Anomaly of the upper limb diaphyses	A structural abnormality of a diaphysis of the arm.	3
Anomic aphasia	An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name.	9
Anonychia	Aplasia of the nail.	66
Anoperineal fistula	The presence of a fistula (abnormal tunnel) between the anal canal and the perineum.	8
Anophthalmia	Absence of the globe or eyeball.	70
Anorectal anomaly	An abnormality of the anus or rectum.	172
Anorexia	Anorexia, or the loss of appetite for food, is a medical condition.	122
Anosmia	An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.	50
Anotia	Complete absence of any auricular structures.	14
Antalgic gait	To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position.	6
Antecubital pterygium	Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric.	7
Antenatal onset	Onset prior to birth.	247
Anterior beaking of lumbar vertebrae	Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine.	5
Anterior creases of earlobe	Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe.	5
Anterior encephalocele	A type of congenital malformation in which brain tissue protrudes through a defect in the anterior (front) part of the skull.	17
Anterior hypopituitarism	A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.	178
Anterior lenticonus	A conical projection of the anterior surface of the lens, occurring as a developmental anomaly.	3
Anterior open-bite malocclusion	Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion.	13
Anterior pituitary agenesis	Absence of the anterior pituitary gland resulting from a developmental defect.	10
Anterior pituitary dysgenesis	Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis.	38
Anterior pituitary hypoplasia	Underdevelopment of the anterior pituitary gland.	35
Anterior plagiocephaly	Asymmetry of the anterior part of the skull.	5
Anterior polar cataract	A polar cataract that affects the anterior pole of the lens.	9
Anterior rib cupping	Wide, concave anterior rib end.	19
Anterior subcapsular cataract	A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule.	6
Anterior synechiae of the anterior chamber	Adhesions between the iris and the cornea.	13
Anterior uveitis	Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber.	18
Anteriorly placed anus	Anterior malposition of the anus.	67
Anti-La/SS-B antibody positivity	The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens.	30
Anti-Ro52/TRIM21 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro52/TRIM21.	30
Anti-Sm antibody positivity	The presence of autoantibodies in the serum that react to seven proteins that consist of a core of small nuclear ribonucleoprotein (snRNP) particles.	32
Anti-U1 ribonucleoprotein antibody positivity	The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP.	32
Anti-acetylcholine receptor antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against acetylcholine receptor.	22
Anti-citrullinated protein antibody positivity	The presence autoantibodies in the serum that react do different citrullinated antigens, including filaggrin, fibrinogen, vimentin and collagen.	6
Anti-complement component C1q antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against C1q.	30
Anti-dsDNA antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA.	34
Anti-erythrocyte autoantibody positivity	The presence of an antibody in the blood circulation that is directed against an antigen on the surface of erythrocytes (red-blood cells).	3
Anti-glutamic acid decarboxylase antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase.	6
Anti-islet antigen-2 antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against tyrosine phosphatase IA-2.	3
Anti-myeloperoxidase antibody positivity	The presence of autoantibodies in the blood circulation that react against myeloperoxidase.	6
Anti-neuromuscular Junction acetylcholine receptor antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neuromuscular junction acetylcholine receptors.	22
Anti-neutrophil elastase antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neutrophil elastase.	5
Anti-nucleoporin 62 antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against nucleoporin 62.	30
Anti-phosphatidic acid antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidic acid.	30
Anti-platelet antigen antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against antigens present on the surface of thrombocytes such as the glycoproteins GPIIb/IIIa, GPIb/IX, and GPIa/IIa.	3
Anti-proteinase 3 antibody positivity	The presence of autoantibodies in the blood circulation that react against proteinase 3. Proteinase 3 (PR3) antigen is a 29-kD serine protease that exists as a protein triplet in human neutrophils	5
Anti-ribosome Po antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ribosome Po.	30
Anti-smooth muscle antibody positivity	The presence in serum of antibodies against smooth muscle.	8
Anti-thyroglobulin antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin.	8
Anti-thyroid antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against one or more components on the thyroid.	14
Anti-thyroid peroxidase antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase.	12
Anti-titin antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against titin.	30
Antimitochondrial antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria.	11
Antineutrophil antibody positivity	The presence of autoantibodies in the serum that react against neutrophils.	53
Antinuclear antibody positivity	The presence of autoantibodies in the serum that react against nuclei or nuclear components.	72
Antiphospholipid antibody positivity	The presence of circulating autoantibodies to phospholipids.	19
Anuria	Absence of urine, clinically classified as below 50ml/day.	13
Aortic aneurysm	Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter.	168
Aortic arch aneurysm	An abnormal localized widening (dilatation) of the aortic arch.	41
Aortic atherosclerotic lesion	The presence of atheromas or atherosclerotic plaques in the aorta.	9
Aortic dissection	Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta.	40
Aortic regurgitation	An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.	100
Aortic root aneurysm	An abnormal localized widening (dilatation) of the aortic root.	70
Aortic tortuosity	Abnormal tortuous (i.e., twisted) form of the aorta.	8
Aortic valve atresia	A congenital disorder of the aortic valve in which the orifice of the valve fails to develop.	3
Aortic valve calcification	Deposition of calcium salts in the aortic valve.	8
Aortic valve stenosis	The presence of a stenosis (narrowing) of the aortic valve.	62
Aortopulmonary collateral arteries	Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus.	15
Apathy	Apathy is a quantitative reduction of interest, motivation and the initiation and persistence of goal-directed behavior, where often the accompanying emotions, thoughts, and social interactions are also diminished. The individual is typically non-reactive to provocations, positive or negative, and appears to not care. Distinguished from lethargy which involves lack of physical or mental energy.	89
Aphasia	An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.	104
Aphthous ulcer	Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.	9
Apical hypertrophic cardiomyopathy	Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity.	3
Aplasia cutis congenita	A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs.	40
Aplasia cutis congenita of scalp	A developmental defect resulting in the congenital absence of skin on the scalp.	20
Aplasia cutis congenita on trunk or limbs	A developmental defect resulting in the congenital absence of skin on the trunk or the limbs.	6
Aplasia cutis congenita over the scalp vertex	A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline.	7
Aplasia of metacarpal bones	Developmental defect associated with absence of one or more metacarpal bones.	12
Aplasia of the 1st metacarpal	Absent first metacarpal (long bone) of the hand.	8
Aplasia of the 2nd finger	Absent 2nd (index) finger.	5
Aplasia of the 3rd finger	Absent 3rd finger.	4
Aplasia of the 5th finger	Absent 5th (little) finger.	4
Aplasia of the bladder	Aplasia (absence) of the urinary bladder.	5
Aplasia of the distal phalanges of the toes	Absence of the distal phalanges of the toes.	5
Aplasia of the epiglottis	Absence of the epiglottis.	3
Aplasia of the falx cerebri	A developmental defect characterized by aplasia of the Falx cerebri.	19
Aplasia of the left hemidiaphragm	Congenital absence of the left half of the diaphragm.	5
Aplasia of the middle phalanx of the hand	Absence of one or more middle phalanx of a finger.	8
Aplasia of the musculature	Absence of the musculature.	12
Aplasia of the nasal bone	Absence of the nasal bone.	5
Aplasia of the olfactory bulb	Lack of formation (congenital absence) of the olfactory bulb.	14
Aplasia of the ovary	Aplasia, that is failure to develop, of the ovary.	5
Aplasia of the pectoralis major muscle	Absence of the pectoralis major muscle.	7
Aplasia of the phalanges of the hand	Absence of one or more of the phalanges of the hand.	16
Aplasia of the phalanges of the toes	Absence of a digit or of one or more phalanges of a toe.	8
Aplasia of the semicircular canal	Absence of the semicircular canal.	18
Aplasia of the sweat glands	Absence of the sweat glands.	3
Aplasia of the thymus	Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination.	4
Aplasia of the ulna	Missing ulna bone associated with congenital failure of development.	5
Aplasia of the uterus	Aplasia of the uterus.	23
Aplasia of the vagina	Aplasia of the vagina.	4
Aplasia/Hypoplasia affecting the anterior segment of the eye	Absence or underdevelopment of the anterior segment of the eye.	138
Aplasia/Hypoplasia affecting the uvea	Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid.	127
Aplasia/Hypoplasia involving the carpal bones	Absence or underdevelopment of the carpal bones.	16
Aplasia/Hypoplasia involving the metacarpal bones	Aplasia or Hypoplasia affecting the metacarpal bones.	142
Aplasia/Hypoplasia involving the musculature of the upper limbs	Absence or underdevelopment of the musculature of the upper limbs.	6
Aplasia/Hypoplasia involving the nose	Underdevelopment or absence of the nose or parts thereof.	117
Aplasia/Hypoplasia involving the shoulder musculature	Absence or underdevelopment of the muscles of the shoulder.	5
Aplasia/Hypoplasia involving the sinuses	Absence or underdevelopment of a cranial sinus or sinuses.	16
Aplasia/Hypoplasia involving the skeletal musculature	Absence or underdevelopment of the musculature.	51
Aplasia/Hypoplasia of facial bones	A developmental defect characterized by absence or underdevelopment of one or more facial bone.	57
Aplasia/Hypoplasia of metatarsal bones	Absence or underdevelopment of the metatarsal bones.	66
Aplasia/Hypoplasia of the 1st metacarpal	Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).	34
Aplasia/Hypoplasia of the 2nd finger	A small/hypoplastic or absent/aplastic 2nd finger.	19
Aplasia/Hypoplasia of the 2nd metacarpal	Aplasia or Hypoplasia affecting the 2nd metacarpal.	5
Aplasia/Hypoplasia of the 3rd finger	A small/hypoplastic or absent/aplastic 3rd (middle) finger.	7
Aplasia/Hypoplasia of the 3rd metacarpal	Aplasia or Hypoplasia affecting the 3rd metacarpal.	5
Aplasia/Hypoplasia of the 4th finger	A small/hypoplastic or absent/aplastic 4th (ring) finger.	5
Aplasia/Hypoplasia of the 4th metacarpal	Aplasia or Hypoplasia affecting the 4th metacarpal.	19
Aplasia/Hypoplasia of the 5th finger	A small/hypoplastic or absent/aplastic 5th finger.	65
Aplasia/Hypoplasia of the 5th metacarpal	Aplasia or Hypoplasia affecting the 5th metacarpal.	16
Aplasia/Hypoplasia of the Epiglottis	This term applies if the Epiglottis is absent or hypoplastic.	13
Aplasia/Hypoplasia of the abdominal wall musculature	Absence or underdevelopment of the abdominal musculature.	36
Aplasia/Hypoplasia of the bladder	Absence or underdevelopment of the urinary bladder.	16
Aplasia/Hypoplasia of the breasts	Absence or underdevelopment of the breasts.	72
Aplasia/Hypoplasia of the capital femoral epiphysis	Absence or underdevelopment of the proximal epiphysis of the femur.	19
Aplasia/Hypoplasia of the cerebral white matter	Absence or underdevelopment of the cerebral white matter.	25
Aplasia/Hypoplasia of the cervical spine	Aplasia or developmental hypoplasia of the cervical vertebral column.	8
Aplasia/Hypoplasia of the clavicles	Absence or underdevelopment of the clavicles (collar bones).	53
Aplasia/Hypoplasia of the cochlea	Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.	10
Aplasia/Hypoplasia of the colon	Congenital absence or underdevelopment of the colon.	10
Aplasia/Hypoplasia of the diaphragm	Absence or underdevelopment of the diaphragm.	5
Aplasia/Hypoplasia of the distal phalanges of the hand	Absence or underdevelopment of the distal phalanges.	123
Aplasia/Hypoplasia of the distal phalanges of the toes	Absence or underdevelopment of the distal phalanges of the toes.	17
Aplasia/Hypoplasia of the ear	The presence of aplasia or developmental hypoplasia of the ear.	211
Aplasia/Hypoplasia of the earlobes	Absence or underdevelopment of the ear lobes.	53
Aplasia/Hypoplasia of the eccrine sweat glands	Absence or developmental hypoplasia of the eccrine sweat glands.	4
Aplasia/Hypoplasia of the external ear	The presence of aplasia or developmental hypoplasia of all or part of the external ear.	204
Aplasia/Hypoplasia of the eyebrow	Absence or underdevelopment of the eyebrow.	215
Aplasia/Hypoplasia of the eyelid	Absence or underdevelopment of the eyelid.	44
Aplasia/Hypoplasia of the fallopian tube	Aplasia or developmental hypoplasia of the fallopian tube.	5
Aplasia/Hypoplasia of the fibula	Absence or underdevelopment of the fibula.	31
Aplasia/Hypoplasia of the fovea	Congenital absence or underdevelopment of the fovea centralis.	32
Aplasia/Hypoplasia of the frontal sinuses	Absence or underdevelopment of frontal sinus.	13
Aplasia/Hypoplasia of the gallbladder	Absence or underdevelopment of the gallbladder.	7
Aplasia/Hypoplasia of the hallux	Absence or underdevelopment of the big toe.	39
Aplasia/Hypoplasia of the inner ear	Aplasia or developmental hypoplasia of the inner ear.	11
Aplasia/Hypoplasia of the iris	Absence or underdevelopment of the iris.	127
Aplasia/Hypoplasia of the lens	Absence or underdevelopment of the lens.	15
Aplasia/Hypoplasia of the middle phalanx of the 5th finger	Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger.	25
Aplasia/Hypoplasia of the nails	Aplasia or developmental hypoplasia of the nail.	258
Aplasia/Hypoplasia of the nasal bone	Absence or underdevelopment of the nasal bone.	7
Aplasia/Hypoplasia of the nasal septum	Absence or underdevelopment of the nasal septum.	5
Aplasia/Hypoplasia of the ovary	Aplasia or developmental hypoplasia of the ovary.	94
Aplasia/Hypoplasia of the palmar creases	Absence or underdevelopment of the palmar creases.	17
Aplasia/Hypoplasia of the pancreas	A congenital underdevelopment (aplasia or hypoplasia) of the pancreas.	30
Aplasia/Hypoplasia of the patella	Absence or underdevelopment of the patella.	33
Aplasia/Hypoplasia of the phalanges of the 5th finger	Aplasia/Hypoplasia of the phalanges of the 5th finger.	31
Aplasia/Hypoplasia of the phalanges of the hand	Small or missing phalangeal bones of the fingers of the hand.	230
Aplasia/Hypoplasia of the premaxilla	Absence or underdevelopment of the premaxilla.	5
Aplasia/Hypoplasia of the proximal phalanx of the thumb	This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.	4
Aplasia/Hypoplasia of the pubic bone	Absence or underdevelopment of the pubic bone.	21
Aplasia/Hypoplasia of the radius	A small/hypoplastic or absent/aplastic radius.	81
Aplasia/Hypoplasia of the sacrum	Aplasia or developmental hypoplasia of the sacral bone.	17
Aplasia/Hypoplasia of the spleen	Absence or underdevelopment of the spleen.	92
Aplasia/Hypoplasia of the sweat glands	Absence or developmental hypoplasia of the sweat glands.	8
Aplasia/Hypoplasia of the tarsal bones	Absence or underdevelopment of the tarsal bones.	4
Aplasia/Hypoplasia of the testes	Absence or underdevelopment of the testes.	207
Aplasia/Hypoplasia of the thumb	Hypoplastic/small or absent thumb.	148
Aplasia/Hypoplasia of the thymus	Absence or underdevelopment of the thymus.	41
Aplasia/Hypoplasia of the thyroid gland	Absence or underdevelopment of the thyroid gland.	25
Aplasia/Hypoplasia of the tibia	Absence or underdevelopment of the tibia.	32
Aplasia/Hypoplasia of the tongue	Absence or underdevelopment of the tongue.	39
Aplasia/Hypoplasia of the tragus	Aplasia or developmental hypoplasia of the tragus.	8
Aplasia/Hypoplasia of the ulna	Absence or underdevelopment of the ulna.	60
Aplasia/Hypoplasia of the uvula	Underdevelopment or absence of the uvula.	28
Aplasia/Hypoplasia of the vagina	Aplasia or developmental hypoplasia of the vagina.	46
Aplasia/Hypoplasia of toe	Absence or hypoplasia of toes.	137
Aplasia/hypoplasia involving forearm bones	Absence (due to failure to form) or underdevelopment of one or more forearm bones.	99
Aplasia/hypoplasia of the 1st metatarsal	Absence or underdevelopment of the first metatarsal bone.	4
Aplasia/hypoplasia of the femur	Absence or underdevelopment of the femur.	73
Aplasia/hypoplasia of the humerus	Absence (due to failure to form) or underdevelopment of the humerus.	33
Aplasia/hypoplasia of the uterus	Absence or developmental hypoplasia of the uterus.	80
Aplastic anemia	Aplastic anemia is defined as pancytopenia with a hypocellular marrow.	28
Aplastic clavicle	Absence of the clavicles as a developmental defect.	19
Aplastic/hypoplastic lacrimal glands	Absence or underdevelopment of the lacrimal gland.	8
Aplastic/hypoplastic toenail	Absence or underdevelopment of the toenail.	116
Apnea	Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.	236
Apneic episodes in infancy	Recurrent episodes of apnea occurring during infancy.	10
Apneic episodes precipitated by illness, fatigue, stress	Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress.	12
Appendicular hypotonia	Muscular hypotonia of one or more limbs.	21
Apraxia	A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.	215
Aqueductal stenosis	Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum.	27
Arachnodactyly	Abnormally long and slender fingers (spider fingers).	133
Arachnoid cyst	An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid.	58
Arachnoid hemangiomatosis	The presence of multiple hemangiomas in the arachnoid.	16
Areflexia of lower limbs	Inability to elicit tendon reflexes in the lower limbs.	93
Areflexia of upper limbs	Inability to elicit tendon reflexes in the upper limbs.	8
Argininuria	A increased concentration of arginine in the urine.	4
Arm dystonia	A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms.	14
Arrhinencephaly	A defect of development of the brain characterized by congenital absence of the part of the brain that includes the olfactory bulbs, tracts, and other structures associated with the sense of smell.	35
Arteria lusoria	Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria.	7
Arterial calcification	Pathological deposition of calcium salts in one or more arteries.	29
Arterial dissection	A separation (dissection) of the layers of an artery.	12
Arterial occlusion	Blockage of blood flow through an artery.	3
Arterial rupture	Sudden breakage of an artery leading to leakage of blood from the circulation.	8
Arterial stenosis	Narrowing or constriction of the inner surface (lumen) of an artery.	106
Arterial thrombosis	The formation of a blood clot inside an artery.	34
Arterial tortuosity	Abnormal tortuous (i.e., twisted) form of arteries.	28
Arteriosclerosis	Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity.	91
Arteriovenous fistula	An abnormal connection between an artery and vein.	12
Arteriovenous malformation	An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries.	55
Arteritis	Arterial inflammation.	5
Arthralgia	Joint pain.	207
Arthralgia of the hip	Joint pain affecting the hip.	9
Arthritis	Inflammation of a joint.	248
Arthrogryposis multiplex congenita	Multiple congenital contractures in different body areas.	126
Ascending aortic dissection	A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.	26
Ascending tubular aorta aneurysm	An abnormal localized widening (dilatation) of the tubular part of the ascending aorta.	30
Ascites	Accumulation of fluid in the peritoneal cavity.	132
Aspiration	Inspiration of a foreign object into the airway.	33
Aspiration pneumonia	Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.	92
Asplenia	Absence (aplasia) of the spleen.	86
Asterixis	A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints.	5
Asteroid hyalosis	The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits.	3
Asthenia	A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body.	16
Asthma	Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.	160
Astigmatism	A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.	216
Astrocytoma	Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma.	25
Astrocytosis	Proliferation of astrocytes in the area of a lesion of the central nervous system.	22
Asymmetric growth	A growth pattern that displays an abnormal difference between the left and the right side.	74
Asymmetric septal hypertrophy	Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray.	13
Asymmetry of intraocular pressure	A difference in the amount of intraocular pressure in the right and left eye.	38
Asymmetry of iris pigmentation	Asymmetry between the two irides or asymmetry between different parts of one iris.	24
Asymmetry of the ears	An asymmetriy, i.e., difference in size, shape or position between the left and right ear.	6
Asymmetry of the thorax	Lack of symmetry between the left and right halves of the thorax.	11
Atelectasis	Collapse of part of a lung associated with absence of inflation (air) of that part.	75
Atherosclerosis	A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow.	85
Athetoid cerebral palsy	A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone.	3
Athetosis	A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.	166
Atlantoaxial abnormality	An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae.	14
Atlantoaxial dislocation	Partial dislocation of the atlantoaxial joint.	7
Atlantoaxial instability	Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly.	6
Atonic seizure	Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.	94
Atopic dermatitis	Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage.	39
Atresia of the external auditory canal	Absence or failure to form of the external auditory canal.	57
Atrial arrhythmia	A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance.	93
Atrial fibrillation	An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.	85
Atrial flutter	A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit.	21
Atrial septal dilatation	A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography.	3
Atrial situs ambiguous	Common atrium without defining morphologic features.	45
Atrial standstill	Atrial standstill or silent atrium is a rare condition presenting with the absence of electrical and mechanical activity in the atria. It presents with the absence of P waves, bradycardia, and wide QRS complex in the electrocardiogram.	6
Atrichia	The most dramatic and severe form of hair loss characterized by an absence of hair follicles.	3
Atrioventricular block	Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.	93
Atrioventricular canal defect	A defect of the atrioventricular septum of the heart.	63
Atrioventricular valve regurgitation	Regurgitation of a heart valve that controls blood flow from a an atrium to a ventricle, including mitral, tricuspid, or, rarely, single atrioventicular valve.	192
Atrophic gastritis	Atrophic gastritis (AG) is a histopathological entity that is characterized by chronic inflammation of the gastric mucosa with loss of gastric glandular cells and replacement by intestinal-type epithelium, pyloric-type glands, and fibrous tissue.	7
Atrophic muscularis propria	Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis.	4
Atrophic scars	Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.	37
Attached earlobe	Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward.	7
Atypical absence seizure	An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity.	35
Atypical absence status epilepticus	Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure.	17
Atypical nevus	A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink.	3
Atypical scarring of skin	Atypically scarred skin .	74
Auditory hallucination	Perception of sounds without auditory stimulus.	16
Auditory hypersensitivity	Hyperresponsive to sound that is abnormal in intensity and/or frequency.	37
Autism	Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).	261
Autoamputation	Auto-amputation is the spontaneous detachment of an appendage from the body due to long standing pathology.	17
Autoamputation of digits	The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology.	14
Autoimmune antibody positivity	The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.	175
Autoimmune hemolytic anemia	An autoimmune form of hemolytic anemia.	45
Autoimmune thrombocytopenia	The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.	49
Autonomic bladder dysfunction	Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system.	3
Autophagic vacuoles	The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue.	8
Avascular necrosis	A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.	90
Avascular necrosis of the capital femoral epiphysis	Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature.	29
Axenfeld anomaly	Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line.	4
Axial dystonia	A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles.	16
Axial muscle weakness	Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs).	50
Axillary freckling	The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.	5
Axillary lymphadenopathy	Enlarged lymph node located in the axillary region (armpit).	3
Axillary pterygium	Presence of a cutaneous membrane (flap) in the armpit.	11
Axonal degeneration/regeneration	A pattern of simultaneous degeneration and regeneration of axons (see comment).	9
Axonal loss	A reduction in the number of axons in the peripheral nervous system.	20
Axonal regeneration	The presence of axonal regeneration following a previous axonal lesion.	7
Azoospermia	Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.	141
Azotemia	An increased concentration of nitrogen compounds in the blood.	167
B Acute Lymphoblastic Leukemia	A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood.	3
B lymphocytopenia	An abnormal decrease from the normal count of B cells.	58
B-cell lymphoma	A type of lymphoma that originates in B-cells.	21
BCGitis	Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination.	13
BCGosis	Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis.	10
Babinski sign	Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.	299
Back pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.	77
Band keratopathy	An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation.	14
Barrel-shaped chest	A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis.	23
Barrett esophagus	An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system.	6
Basal cell carcinoma	The presence of a basal cell carcinoma of the skin.	58
Basal ganglia calcification	The presence of calcium deposition affecting one or more structures of the basal ganglia.	54
Basal ganglia gliosis	Focal proliferation of glial cells in the basal ganglia.	11
Basal ganglia necrosis	Death of cells in the basal ganglia. This finding can be confirmed by autopsy. It can be suspected with hyperintensities within the basal ganglia on FLAIR and T2-sequences on magnetic resonance imaging.	3
Basal lamina onion bulb formation	A type of onion bulb formation prominently affecting the area of the basal lamina.	3
Basilar impression	Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum.	5
Basilar invagination	Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama).	4
Beaking of vertebral bodies	Anterior tongue-like protrusions of the vertebral bodies.	27
Beevor's sign	Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibers predominate pulling upwards the umbilicus.	5
Bell-shaped thorax	The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter.	33
Beta 2-microglobulinuria	Increased level of beta 2-microglobulins in the urine.	4
Bicarbonaturia	Abnormally increased concentration of hydrogencarbonate in the urine.	6
Biconcave vertebral bodies	Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward.	25
Biconvex vertebral bodies	Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates.	5
Bicornuate uterus	The presence of a bicornuate uterus.	52
Bicoronal synostosis	Synostosis affecting the right and the left coronal suture.	10
Bicuspid aortic valve	The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps).	117
Bicuspid pulmonary valve	The presence of a bicuspid pulmonary valve.	3
Bidirectional ventricular tachycardia	Bidirectional ventricular tachycardia (BDVT) is a regular ventricular tachyarrhythmia (VT) with two different QRS morphologies alternating at a rate typically between 140 and 180 bpm.	4
Bifid distal phalanx of the thumb	Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones.	4
Bifid epiglottis	A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation.	7
Bifid femur	A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side.	4
Bifid nasal tip	A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip.	18
Bifid nose	Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip.	12
Bifid ribs	A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray.	17
Bifid scrotum	Midline indentation or cleft of the scrotum.	35
Bifid tongue	Tongue with a median apical indentation or fork.	25
Bifid ureter	Incomplete duplication of the ureter.	5
Bifid uterus	The presence of a bifid uterus.	4
Bifid uvula	Uvula separated into two parts most easily seen at the tip.	164
Bilateral breast hypoplasia	Underdevelopment of the breast on both sides.	3
Bilateral choanal atresia	Bilateral absence (atresia) of the posterior nasal aperture (choana).	9
Bilateral cleft lip	A non-midline cleft of the upper lip on the left and right sides.	17
Bilateral cleft palate	Nonmidline cleft palate on the left and right sides.	24
Bilateral conductive hearing impairment	A bilateral type of conductive hearing impairment.	8
Bilateral coxa valga	The presence of bilateral coxa valga.	13
Bilateral cryptorchidism	Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.	54
Bilateral facial palsy	Two-sided or bilateral weakness of the muscles of facial expression and eye closure.	3
Bilateral lung agenesis	Bilateral lack of development of the lungs.	4
Bilateral microphthalmos	A developmental anomaly characterized by abnormal smallness of both eyes.	25
Bilateral perisylvian polymicrogyria	A type of perisylvian polymicrogyria that affects both sides of the brain.	4
Bilateral polymicrogyria	Polymicrogyria that affects all or some of both cerebral hemispheres.	5
Bilateral radial aplasia	Missing radius bone on both sides associated with congenital failure of development.	3
Bilateral renal agenesis	A bilateral form of agenesis of the kidney.	10
Bilateral renal hypoplasia	Two sided hypoplasia of the kidney.	6
Bilateral sensorineural hearing impairment	A bilateral form of sensorineural hearing impairment.	88
Bilateral single transverse palmar creases	The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands.	63
Bilateral superior vena cava	The presence of a left and a right superior vena cava.	11
Bilateral talipes equinovarus	Bilateral clubfoot deformity.	49
Bilateral tonic-clonic seizure on awakening	Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day).	3
Bilateral tonic-clonic seizure with focal onset	A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.	52
Bilateral tonic-clonic seizure with generalized onset	A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure.	51
Bilateral trilobed lung	Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes.	3
Bilateral triphalangeal thumbs	A bilateral form of triphalangeal thumb.	3
Bilateral vestibular schwannoma	A bilateral vestibular schwannoma (acoustic neurinoma).	4
Bilateral wrist flexion contracture	A chronic loss of wrist joint motion on the right and left sides.	3
Bile duct proliferation	Proliferative changes of the bile ducts.	20
Biliary atresia	Atresia of the biliary tree.	12
Biliary cirrhosis	Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease.	19
Biliary hyperplasia	Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia.	3
Biliary tract abnormality	An abnormality of the biliary tree.	107
Biliary tract neoplasm	A tumor (abnormal growth of tissue) of the biliary system.	16
Bimanual synkinesia	Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand.	32
Biparietal narrowing	A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull).	64
Bipedal edema	A palpable swelling in both feet and ankles caused by an increase in interstitial fluid volume (excess fluid).	3
Bipolar affective disorder	Bipolar disorder is an illness of mood characterized by alternating episodes of elevated and depressed moods, which are interspersed with euthymic periods.	44
Biventricular hypertrophy	Thickening of the heart walls in both ventricles.	13
Bladder carcinoma	The presence of a carcinoma of the urinary bladder.	33
Bladder diverticulum	Diverticulum (sac or pouch) in the wall of the urinary bladder.	36
Bladder exstrophy	Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall.	7
Bladder fistula	The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin.	3
Bladder neoplasm	The presence of a neoplasm of the urinary bladder.	34
Bleeding with minor or no trauma	Significant bleeding or hemorrhage without significant precipitating factor.	8
Blepharitis	Inflammation of the eyelids.	51
Blepharochalasis	Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads.	8
Blepharophimosis	A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.	128
Blepharospasm	A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids.	36
Blind vagina	The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia.	5
Blindness	Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.	294
Blistering by anatomical location	Blistering (presence of multiple fluid filled blisters) categorized according to the body site where they occur.	26
Blistering by histological location	Blistering (presence of multiple fluid filled blisters) categorized according to the layer of the skin in which the blister originates. The skin is divided into three layers. The epidermis (outermost layer, which mainly consists of keratinocytes), the dermis, and a subcutaneous layer. The epidermis is divided into five layers: the basal lamina (innermost layer), the basal cell layer, the stratum spinosum, the stratum granulosum, and the stratum corneum (outermost layer). Cleavage in epidermolysis bullosa (EB) simplex occurs within the basal keratinocytes; in junctional EB, within the lamina lucida; and in dystrophic EB occurs in the sublamina densa, in the upper portion of the dermis (papillary dermis). In Kindler's EB, cleavage can occur in the basal keratinocytes, in the lamina lucida, or below the lamina densa.	13
Block vertebrae	Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies).	6
Blood pressure substantially higher in legs than arms	An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the legs being much higher than the blood pressure measure in the arms. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm.	3
Bloodstream infectious agent	The presence of an infectious agent in the blood circulation.	19
Bloody diarrhea	Passage of many stools containing blood.	48
Blue irides	A markedly blue coloration of the iris.	54
Blue nevus	A solitary, bluish, smooth surfaced macule, papule or plaque that is generally round or oval in shape. The histopathology of blue nevi varies by subtype, but general characteristics include a vertical wedge or bulbous shaped proliferation of spindle cells, dendritic melanocytes, and melanophages into a sclerotic dermis or subcutis.	11
Blue sclerae	An abnormal bluish coloration of the sclera.	107
Blurred vision	Lack of sharpness of vision resulting in the inability to see fine detail.	46
Body odor	A perceived unpleasant smell given off by the body.	5
Bone cyst	A fluid filled cavity that develops with a bone.	30
Bone fracture	A partial or complete breakage of the continuity of a bone.	22
Bone marrow arrest at the promyelocytic stage	A type of bone marrow maturation arrest characterized by accumulation of neutrophil precursor cells in the bone marrow.	3
Bone marrow hypercellularity	A larger than normal amount or percentage of hematopoietic cells relative to marrow fat.	28
Bone marrow hypocellularity	A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.	68
Bone marrow maturation arrest	Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow.	9
Bone pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.	86
Bone spicule pigmentation of the retina	Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).	126
Bone-marrow foam cells	The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance.	5
Bowed forearm bones	A bending or abnormal curvature affecting either the radius, the ulna, or both.	36
Bowed humerus	A bending or abnormal curvature of the humerus.	8
Bowel diverticulosis	The presence of multiple diverticula of the intestine.	37
Bowel incontinence	Involuntary fecal soiling in adults and children who have usually already been toilet trained.	52
Bowing of limbs due to multiple fractures	Curvature of the shafts of the long bones due to multiple fractures.	4
Bowing of the arm	A bending or abnormal curvature affecting a long bone of the arm.	45
Bowing of the legs	A bending or abnormal curvature affecting a long bone of the leg.	252
Bowing of the vocal cords	Bowing (abnormal curvature) of the vocal folds.	4
Brachycephaly	An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.	252
Brachyturricephaly	Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region.	9
Bradycardia	A slower than normal heart rate (in adults, slower than 60 beats per minute).	98
Bradykinesia	Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).	113
Bradyopsia	Difficulty in seeing moving objects.	3
Brain abscess	A collection of pus, immune cells, and other material in the brain.	3
Brain imaging abnormality	An anomaly of metabolism or structure of the brain identified by imaging.	166
Brain neoplasm	A benign or malignant neoplasm that arises from or metastasizes to the brain.	15
Brainstem dysplasia	A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord.	3
Branchial anomaly	Congenital developmental defect arising from the primitive branchial apparatus.	19
Branchial cyst	A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region.	6
Branchial fistula	A congenital fistula in the neck resulting from incomplete closure of a branchial cleft.	10
Branchial sinus	A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal.	5
Breast aplasia	Failure to develop and congenital absence of the breast.	17
Breast carcinoma	The presence of a carcinoma of the breast.	66
Breast hypoplasia	Underdevelopment of the breast.	46
Breech presentation	A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first.	57
Brisk reflexes	Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.	106
Brittle hair	Fragile, easily breakable hair, i.e., with reduced tensile strength.	52
Broad 2nd toe	A broad appearance of the second toe.	3
Broad chin	Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue.	10
Broad clavicles	Increased width (cross-sectional diameter) of the clavicles.	11
Broad columella	Increased width of the columella.	14
Broad distal phalanges of all fingers	Abnormally wide (broad) distal phalanx of finger of all fingers.	3
Broad distal phalanx of finger	Abnormally wide (broad) distal phalanx of finger.	27
Broad distal phalanx of the hallux	An increase in width of the distal phalanx of the big toe.	3
Broad distal phalanx of the thumb	Increased width of the distal phalanx of thumb.	4
Broad distal phalanx of the toes	Increased width of the distal phalanx of toe of one or more toes.	5
Broad eyebrow	Regional increase in the width (height) of the eyebrow.	28
Broad face	Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective).	18
Broad femoral neck	An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).	17
Broad finger	Increased width of a non-thumb digit of the hand.	138
Broad fingertip	Increased width of the distal segment of a finger.	4
Broad first metatarsal	Increased side-to-side width of the first metatarsal bone.	5
Broad foot	A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.	37
Broad forehead	Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.	201
Broad hallux	Visible increase in width of the hallux without an increase in the dorso-ventral dimension.	76
Broad hallux phalanx	An increase in width in one or more phalanges of the big toe.	21
Broad ischia	Increased width of the ischium, which forms the lower and back part of the hip bone.	5
Broad jaw	Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective).	6
Broad lateral eyebrow	Regional increase in the width (height) of the lateral eyebrow.	3
Broad long bone diaphyses	Increased width of the diaphysis of long bones.	4
Broad long bones	Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately.	153
Broad metacarpals	Abnormally broad metacarpal bones.	19
Broad metatarsal	Increased side-to-side width of a metatarsal bone.	12
Broad middle phalanx of finger	Increased width of the middle phalanx of finger.	4
Broad nail	Increased width of nail.	10
Broad nasal tip	Increase in width of the nasal tip.	159
Broad neck	Increased side-to-side width of the neck.	29
Broad palm	For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.	38
Broad phalanges of the hand	Increased width of the phalanges of the hand.	114
Broad phalanx	Increased side-to-side width of one or more phalanges of the fingers or toes.	145
Broad phalanx of the toes	Increased width of phalanx of one or more toes.	44
Broad philtrum	Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum.	45
Broad proximal phalanges of the hand	Increased width of the proximal phalanges of the finger.	3
Broad ribs	Increased width of ribs	27
Broad skull	Increased width of the skull.	3
Broad thumb	Increased thumb width without increased dorso-ventral dimension.	89
Broad toe	Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.	87
Broad uvula	Increased width of the uvula (subjective finding).	3
Broad-based gait	An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.	117
Bronchial wall thickening	Radiological appearance of increased density around the walls of a bronchus or large bronchiole. This feature is thought to be related to edema involving the bronchial wall as well as the peribronchial interstitial space. If the cross section of a bronchus is captured in a radiograph or computed tomography image, it is said to have the appearance of a donut because of the central lucency representing the airway of the bronchus surrounded by a circular region of increased density.	6
Bronchiectasis	Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.	170
Bronchiolitis	Inflammation of the bronchioles.	9
Bronchitis	Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi.	70
Bronchoconstriction	Tightening of smooth muscle surrounding the bronchi and bronchioles with consequent wheezing and shortness of breath.	24
Bronchomalacia	Weakness or softness of the cartilage in the walls of the bronchial tubes.	24
Bruising susceptibility	An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.	177
Brushfield spots	The presence of whitish spots in a ring-like arrangement at the periphery of the iris.	13
Bruxism	Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep, but also can occur while the affected individual is awake.	37
Budd-Chiari syndrome	Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience.	9
Bulbar palsy	Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia.	41
Bulbous nose	Increased volume and globular shape of the anteroinferior aspect of the nose.	201
Bulging epiphyses	A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant).	5
Bulging of the costochondral junction	Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage.	4
Bulimia	A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these).	6
Bull's eye maculopathy	Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation.	12
Bundle branch block	Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches.	78
Buphthalmos	Diffusely large eye (with megalocornea) associated with glaucoma.	27
Burkitt lymphoma	A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass.	8
Bursitis	Inflammation of a synovial bursa.	4
Butterfly vertebrae	A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray.	21
C1-C2 subluxation	A partial dislocation of the atlantoaxial joints.	7
C1-C2 vertebral abnormality	Any abnormality of the atlas and the axis.	9
CNS demyelination	A loss of myelin from nerve fibers in the central nervous system.	43
CNS foam cells	The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the central nervous system.	3
CNS hypomyelination	Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.	88
CSF lymphocytic pleiocytosis	An increased lymphocyte count in the cerebrospinal fluid.	19
CSF pleocytosis	An increased white blood cell count in the cerebrospinal fluid.	26
Cachexia	Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.	99
Caesarian section	Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy).	15
Cafe-au-lait spot	Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.	129
Calcaneovalgus deformity	This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus).	13
Calcific stippling	An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs).	5
Calcification of cartilage	The presence of calcium deposition in cartilage.	12
Calcification of falx cerebri	The presence of calcium deposition in the falx cerebri.	7
Calcification of the aorta	Calcification, that is, pathological deposition of calcium salts in the aorta.	22
Calcification of the auricular cartilage	Ossification affecting the external ear cartilage.	4
Calcification of the small brain vessels	Deposition of calcium salts within small blood vessels of the brain.	3
Calcinosis	Formation of calcium deposits in any soft tissue.	11
Calcinosis cutis	Deposition of calcium in the skin.	4
Calcium nephrolithiasis	The presence of calcium-containing calculi (stones) in the kidneys.	18
Calcium oxalate nephrolithiasis	The presence of calcium- and oxalate-containing calculi (stones) in the kidneys.	16
Calf muscle hypertrophy	Muscle hypertrophy affecting the calf muscles.	50
Calf muscle hypoplasia	Underdevelopment of the muscuklature of the calf.	3
Calf muscle pseudohypertrophy	Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.	18
Calvarial hyperostosis	Excessive growth of the calvaria.	10
Calvarial osteosclerosis	An increase in bone density affecting the calvaria (roof of the skull).	8
Calvarial skull defect	A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year.	28
Camptocormia	An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders.	8
Camptodactyly of finger	The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.	203
Camptodactyly of toe	Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.	16
Candida esophagitis	Candida infections of the esophagus are considered opportunistic infections and are seen most commonly in immunosuppressed patients, the most common symptoms being dysphagia, odynophagia, and retrosternal pain.	5
Capillary fragility	Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises).	7
Capillary hemangioma	The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces.	39
Capillary malformation	A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules).	66
Carcinoid tumor	A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin.	12
Carcinoma	A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus).	7
Cardiac amyloidosis	Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.	4
Cardiac arrest	An abrupt loss of heart function.	157
Cardiac conduction abnormality	Any anomaly of the progression of electrical impulses through the heart.	167
Cardiac diverticulum	A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular.	18
Cardiac fibroma	A fibroma of the heart.	3
Cardiac myxoma	A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origin and general project from the endocardium into a cardiac chamber.	4
Cardiac rhabdomyoma	A benign tumor of cardiac striated muscle.	5
Cardiac shunt	Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system.	14
Cardiac valve calcification	Abnormal calcification of a cardiac valve.	11
Cardiogenic shock	Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume.	7
Cardiomegaly	Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.	130
Cardiomyocyte hypertrophy	An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes.	9
Cardiomyocyte mitochondrial proliferation	An abnormal increase in the number of mitochondria per cardiac myocyte.	3
Cardiovascular calcification	Abnormal calcification in the cardiovascular system.	37
Carious teeth	Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.	172
Carotid artery dilatation	A dilatation (balooning or bulging out of the vessel wall) of a carotid artery.	24
Carotid artery dissection	A separation (dissection) of the layers of the carotid artery wall.	3
Carotid artery stenosis	Narrowing of the carotid arteries.	7
Carotid artery tortuosity	Abnormal tortuous (i.e., twisted) form of the carotid arteries.	5
Carpal bone aplasia	Congenital absence of a carpal bone.	4
Carpal bone hypoplasia	Underdevelopment of one or more carpal bones.	12
Carpal osteolysis	Osteolysis affecting carpal bones.	3
Carpal synostosis	Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).	39
Cat cry	The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten.	3
Cataplexy	A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions.	12
Caudal appendage	The presence of a tail-like skin appendage located adjacent to the sacrum.	6
Caudal interpedicular narrowing	Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine.	3
Cavernous hemangioma	The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma.	31
Cavum septum pellucidum	If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space.	33
Celiac disease	Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurrence of CD is seen as a feature of a number of other diseases.	56
Cellular immunodeficiency	An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity.	39
Cellulitis	A bacterial infection and inflammation of the skin und subcutaneous tissues.	49
Central Y-shaped metacarpal	A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal.	11
Central adrenal insufficiency	A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected.	18
Central apnea	Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow.	41
Central core regions in muscle fibers	The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric.	4
Central diabetes insipidus	A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus.	21
Central heterochromia	The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone.	6
Central hypothyroidism	A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects.	73
Central nervous system cyst	A fluid-filled sac (cyst) located within the central nervous system.	212
Central opacification of the cornea	Reduced transparency of the central portion of the corneal stroma.	21
Central primitive neuroectodermal tumor	A primitive neuroectodermal neoplasm that occurs in the central nervous system.	6
Central retinal vessel vascular tortuosity	The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules).	12
Central scotoma	An area of depressed vision located at the point of fixation and that interferes with central vision.	70
Central sleep apnea	Sleep apnea results from a temporary loss of the central drive to the muscles responsible for breathing.	31
Centrally nucleated skeletal muscle fibers	An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).	60
Centrocecal scotoma	A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape.	13
Cephalocele	A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect.	119
Cephalohematoma	Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum.	10
Cerebellar agenesis	Cerebellar agenesis is defined by the near complete absence of cerebellar tissue with only remnants of the anterior vermis, flocculus, and/or middle cerebellar peduncles.	3
Cerebellar ataxia associated with quadrupedal gait	The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight).	4
Cerebellar cortical atrophy	Atrophy (wasting) of the cerebellar cortex.	8
Cerebellar dentate nucleus calcification	Pathological deposition of calcium salts in the dentate nucleus of the cerebellum.	7
Cerebellar dysplasia	Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts.	22
Cerebellar gliosis	Focal proliferation of glial cells in the cerebellum.	4
Cerebellar hemorrhage	Hemorrhage into the parenchyma of the cerebellum.	6
Cerebellar vermis atrophy	Wasting (atrophy) of the vermis of cerebellum.	59
Cerebellar vermis hypoplasia	Underdevelopment of the vermis of cerebellum.	285
Cerebral amyloid angiopathy	Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system.	5
Cerebral arteriovenous malformation	An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain.	8
Cerebral artery atherosclerosis	The formation of the formation of fibrofatty lesions in the wall of an artery located in the brain.	6
Cerebral artery stenosis	Narrowing or constriction of the inner surface (lumen) of a cerebral artery.	3
Cerebral berry aneurysm	A small, sac-like aneurysm (outpouching) of a cerebral blood vessel.	6
Cerebral calcification	The presence of calcium deposition within the cerebrum.	150
Cerebral cavernous malformation	A cerebral cavernous malformation (also known as cavernoma, cavernous angioma, cavernous hemangioma) is a collection of structurally abnormal slow-flow capillaries predominantly in the central nervous system. These are multiple mulberry-like distended caverns of dilated thin-walled capillaries without the normal intervening brain parenchymal architecture. Often, individual cavernomas are surrounded by hemosiderin representing remote oozing due to the abnormal capillaries.	5
Cerebral cortical hemiatrophy	Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle.	6
Cerebral dysmyelination	Defective structure and function of myelin sheaths of the white matter of the brain.	19
Cerebral edema	Abnormal accumulation of fluid in the brain.	32
Cerebral hamartoma	The presence of a hamartoma of the cerebrum.	21
Cerebral hemorrhage	Hemorrhage into the parenchyma of the brain.	70
Cerebral hypomyelination	Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system.	28
Cerebral hypoplasia	Underdevelopment of the cerebrum.	55
Cerebral inclusion bodies	Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain.	50
Cerebral infarct	A necrotic lesion in the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors.	39
Cerebral ischemia	Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue.	123
Cerebral palsy	Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems.	174
Cerebral vasculitis	Inflammation of the blood vessels within the brain.	3
Cerebral venous thrombosis	Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow.	8
Cerebral visual impairment	A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.	176
Cerebral white matter atrophy	The presence of atrophy (wasting) of the cerebral white matter.	53
Cerebral white matter hypoplasia	Underdevelopment of the cerebral white matter.	11
Cerulean cataract	Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary.	4
Cervical C2/C3 vertebral fusion	Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine.	13
Cervical C6/C7 vertebrae fusion	Fusion of cervical vertebrae at C6 and C7, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine.	3
Cervical cord compression	Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness.	9
Cervical insufficiency	A cervix that shows a painless dilation and shortening during the second trimester of pregnancy with resultant recurrent pregnancy loss or delivery is considered incompetent	4
Cervical kyphosis	Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance.	9
Cervical lymphadenopathy	Enlarged lymph nodes in the neck.	10
Cervical neoplasm	A tumor (abnormal growth of tissue) of the uterine cervix.	7
Cervical platyspondyly	A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine.	3
Cervical spinal canal stenosis	An abnormal narrowing of the cervical spinal canal.	11
Cervical spinal cord atrophy	Atrophy of the cervical segment of the spinal cord.	5
Cervical spine instability	An abnormal lack of stability of the cervical spine.	10
Cervical subluxation	A partial dislocation of one or more intervertebral joints in the cervical vertebral column.	11
Cervix cancer	A tumor of the uterine cervix.	6
Cessation of head growth	Stagnation of head growth seen as flattening of the head circumference curve.	6
Chapped lip	Cracking, fissuring, and peeling of the skin of the lips.	4
Cheilitis	Inflammation of the lip.	58
Chemodectoma	A usually benign neoplasm originating in the chemoreceptor tissue of the carotid body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract.	4
Cherry red spot of the macula	Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparency of the macula.	13
Chest pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.	137
Chiari malformation	Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow.	107
Chiari type I malformation	Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line)	48
Chilblains	Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks.	12
Childhood onset sensorineural hearing impairment	Sensorineural hearing impairment with childhood onset.	20
Childhood-onset truncal obesity	Truncal obesity with onset during childhood, defined as between 2 and 10 years of age.	30
Chills	A sudden sensation of feeling cold.	18
Chin with H-shaped crease	H-shaped crease in the fat pad of the chin.	5
Chin with horizontal crease	Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest.	10
Choanal atresia	Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.	121
Choanal stenosis	Abnormal narrowing of the choana (the posterior nasal aperture).	28
Choking episodes	Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing.	17
Cholangiocarcinoma	Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension.	8
Cholangitis	Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both.	25
Cholecystitis	The presence of inflammatory changes in the gallbladder.	20
Cholelithiasis	Hard, pebble-like deposits that form within the gallbladder.	82
Cholestasis	Impairment of bile flow due to obstruction in bile ducts.	282
Cholesteatoma	Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear.	12
Chondrocalcinosis	Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .	22
Chondroitin sulfate excretion in urine	An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine.	3
Chondrosarcoma	A slowly growing malignant neoplasm derived from cartilage cells.	7
Chordee	Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees.	22
Chordoma	A chordoma is a tumor that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis.	3
Chorea	Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.	247
Choreoathetosis	Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).	123
Choriocapillaris atrophy	Atrophy of the capillary lamina of choroid.	8
Choriocarcinoma	A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors.	8
Chorioretinal atrophy	Atrophy of the choroid and retinal layers of the fundus.	43
Chorioretinal coloboma	Absence of a region of the retina, retinal pigment epithelium, and choroid.	52
Chorioretinal dysplasia	Abnormal development of the choroid and retina.	21
Choroid plexus carcinoma	Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III.	5
Choroid plexus cyst	A cyst occurring within the choroid plexus within a cerebral ventricle.	10
Choroidal hemangioma	The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas.	5
Choroidal melanoma	Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented).	5
Choroidal neovascularization	Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye.	23
Chromosomal breakage induced by crosslinking agents	Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C.	16
Chromosomal breakage induced by ionizing radiation	Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation.	13
Chromosome breakage	Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents.	38
Chronic CSF lymphocytosis	Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter.	9
Chronic acidosis	Longstanding abnormal acid accumulation or depletion of base.	5
Chronic active hepatitis	Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis.	3
Chronic axonal neuropathy	An abnormality characterized by chronic impairment of the normal functioning of the axons.	7
Chronic bronchitis	Chronic inflammation of the bronchi.	24
Chronic colitis	A chronic inflammatory disease of the large intestine (colon, cecum and rectum).	17
Chronic constipation	Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.	116
Chronic cough	A persistent cough, defined as a cough lasting longer than eight weeks in adults or longer than four weeks in children.	5
Chronic decreased circulating total IgG	A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.	4
Chronic diarrhea	The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.	109
Chronic fatigue	Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer.	25
Chronic furunculosis	A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection.	5
Chronic gastritis	A chronic form of gastritis.	5
Chronic hemolytic anemia	An chronic form of hemolytic anemia.	6
Chronic hepatitis	Hepatitis that lasts for more than six months.	11
Chronic hepatitis due to cryptosporidium infection	Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue.	5
Chronic infection	Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection.	23
Chronic kidney disease	Functional anomaly of the kidney persisting for at least three months.	192
Chronic leukemia	A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia.	23
Chronic lung disease	According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.	41
Chronic lymphatic leukemia	A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias.	16
Chronic monilial nail infection	Chronic infection of the nails by Candida species.	3
Chronic mucocutaneous candidiasis	Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails.	52
Chronic myelogenous leukemia	A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate.	5
Chronic myelomonocytic leukemia	A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement.	4
Chronic neutropenia	Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months.	9
Chronic noninfectious lymphadenopathy	A chronic form of lymphadenopathy that is not related to infection.	9
Chronic oral candidiasis	Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx.	31
Chronic otitis media	Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.	151
Chronic pain	Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months.	11
Chronic pancreatitis	A chronic form of pancreatitis.	6
Chronic pulmonary obstruction	An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities.	36
Chronic rhinitis	Chronic inflammation of the nasal mucosa.	56
Chronic sinusitis	A chronic form of sinusitis.	63
Chylothorax	Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity.	18
Cigarette-paper scars	Thin (atrophic) and wide scars.	10
Ciliary body melanoma	Malignant tumor of melanocytes of the ciliary body.	5
Ciliary dyskinesia	A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia.	28
Cirrhosis	A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.	162
Civatte bodies	Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant	3
Class III obesity	Obesity with a body mass index of 40 kg per square meter or higher.	9
Claw hand deformity	An abnormality of the hand characterized by metacarpophalangeal (MCP) hyperextension and proximal interphalangeal (PIP) and distal interphalangeal (DIP) flexion. The position of the affected hand is said to resemble a claw.	10
Cleft ala nasi	The presence of a notch in the margin of the ala nasi.	6
Cleft earlobe	Discontinuity in the convexity of the inferior margin of the lobe.	5
Cleft helix	A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length.	3
Cleft lip	A gap in the lip or lips.	217
Cleft maxillary alveolar ridge	A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine.	3
Cleft of chin	Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin.	3
Cleft soft palate	Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency.	60
Cleft upper lip	A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.	157
Clinodactyly of the 4th toe	Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe).	5
Clinodactyly of the 5th toe	Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe).	13
Clitoral hypertrophy	Hypertrophy of the clitoris.	70
Clitoral hypoplasia	Developmental hypoplasia of the clitoris.	32
Clonic seizure	A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.	81
Clonus	A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.	128
Closed neural tube defect	A type of neural tube defect that is covered by skin.	61
Cloverleaf skull	Trilobar skull configuration when viewed from the front or behind.	8
Club-shaped distal femur	An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis.	3
Clubbing	Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.	147
Clubbing of fingers	Terminal broadening of the fingers (distal phalanges of the fingers).	39
Clubbing of toes	Terminal broadening of the toes (distal phalanges of the toes).	30
Clumsiness	Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.	86
Clusters of axonal regeneration	Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration.	3
Coarctation of aorta	Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.	148
Coarctation of the descending aortic arch	Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta.	3
Coarse facial features	Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.	240
Coarse hair	Hair shafts are rough in texture.	58
Coarse metaphyseal trabecularization	Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms.	24
Coat hanger sign of ribs	An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger).	4
Cobblestone-like hyperkeratosis	The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones.	4
Cochlear malformation	The presence of a malformed cochlea.	11
Cognitive distortion	A cognitive distortion is a maladaptive, exaggerated, or irrational thought pattern.	34
Cognitive regression	Loss of cognitive developmental skills, as manifested by loss of developmental cognitive milestones.	4
Cogwheel rigidity	A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched).	32
Coiled sperm flagella	Sperm cells whose flagella are twisted (coiled).	32
Cold-induced muscle cramps	Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures.	7
Colitis	Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases.	66
Collectionism	Excessive or pathological tendency to save and collect possessions.	10
Coloboma	A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.	246
Colonic atresia	A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or atresia of the tubular structure of the colon.	4
Colonic diverticula	The presence of multiple diverticula of the colon.	32
Colonic eosinophilia	An excess of eosinophilic cells in colonic tissue, i.e., eosinophilic infiltration in the colon.	3
Color vision defect	An anomaly in the ability to discriminate between or recognize colors.	156
Colorectal polyposis	Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen.	24
Colpocephaly	Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles.	33
Coma	The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.	99
Combined immunodeficiency	A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications.	37
Comedo	A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle).	4
Common atrium	Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections.	10
Communicating hydrocephalus	A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space.	23
Compensated hypothyroidism	Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4).	9
Compensatory chin elevation	A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement.	6
Compensatory head posture	A compensatory head posture occurs when the head is deviated out of the normal primary straight head position in order to compensate for an ocular problem.	24
Complete atrioventricular canal defect	A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect.	17
Complete duplication of phalanx of hand	A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.	13
Complete duplication of the distal phalanges of the hand	A complete duplication affecting one or more of the distal phalanges of the hand.	3
Complete duplication of thumb phalanx	A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.	12
Complete or near-complete absence of specific antibody response to tetanus vaccine	The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.	9
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine	The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.	6
Complex febrile seizure	A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period.	16
Compulsive behaviors	'Behavior that consists of repetitive acts, characterized by the feeling that one \''has to\'' perform them, while being aware that these acts are not in line with one's overall goal.'	158
Concave nail	The natural longitudinal (posterodistal) convex arch is not present or is inverted.	19
Concave nasal ridge	Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip.	23
Concentric hypertrophic cardiomyopathy	Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.	21
Cone-shaped epiphyses of the phalanges of the hand	A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.	31
Cone-shaped epiphysis	Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.	82
Cone-shaped metacarpal epiphyses	A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones.	5
Confusion	Lack of clarity and coherence of thought, perception, understanding, or action.	77
Confusional arousal	A nocturnal episode is characterized by disorientation, grogginess, and, at times, significant agitation upon awakening from slow-wave sleep or following forced awakenings.	9
Congenital adrenal hyperplasia	A type of adrenal hyperplasia with congenital onset.	5
Congenital adrenal hypoplasia	A type of adrenal hypoplasia with congenital onset.	3
Congenital alopecia totalis	Loss of all scalp hair with congenital onset.	3
Congenital aphakia	Absence of the crystalline lens of the eye as a result of a developmental defect.	3
Congenital blindness	Blindness with onset at birth.	8
Congenital bullous ichthyosiform erythroderma	An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet.	4
Congenital contracture	One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth.	162
Congenital diaphragmatic hernia	The presence of a hernia of the diaphragm present at birth.	100
Congenital fibrosis of extraocular muscles	Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements.	6
Congenital finger flexion contractures	Multiple bent (flexed) finger joints that cannot be straightened actively or passively.	11
Congenital giant melanocytic nevus	The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child.	7
Congenital hemolytic anemia	A form of hemolytic anemia with congenital onset.	8
Congenital hepatic fibrosis	The presence of fibrosis of that part of the liver with congenital onset.	45
Congenital hypoparathyroidism	Deficiency of parathyroid hormone with congenital onset.	3
Congenital hypoplastic anemia	A type of hypoplastic anemia with congenital onset.	5
Congenital hypothyroidism	A type of hypothyroidism with congenital onset.	32
Congenital ichthyosiform erythroderma	An ichthyosiform abnormality of the skin with congenital onset.	32
Congenital lactic acidosis	A form of lactic acidemia with congenital onset.	4
Congenital malformation of the left heart	Defect or defects of the morphogenesis of the left heart identifiable at birth.	49
Congenital malformation of the right heart	Defect or defects of the morphogenesis of the right heart identifiable at birth.	90
Congenital megaureter	A developmental disturbance with extreme ureteral dilatation.	3
Congenital muscular torticollis	A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending.	8
Congenital nonbullous ichthyosiform erythroderma	The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.	23
Congenital nystagmus	Nystagmus dating from or present at birth.	22
Congenital palmoplantar hyperkeratosis	Abnormal thickening of the skin on the palms and soles that is present at birth.	3
Congenital posterior urethral valve	A developmental defect resulting in an obstructing membrane in the posterior male urethra.	8
Congenital pseudoarthrosis of the clavicle	The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle.	4
Congenital pulmonary airway malformation	Congenital pulmonary airway malformation (CPAM) - previously known as congenital cystic adenomatoid malformation (CCAM) - is a relatively rare developmental malformation of the lower respiratory tract. It is a hamartomatous, dysplastic developmental abnormality of the lung characterized by abnormal airway patterning during lung branching morphogenesis and is formed by abnormal branching of the immature bronchioles.	3
Congenital pyloric atresia	Congenital atresia of the pylorus.	3
Congenital sensorineural hearing impairment	A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.	58
Congenital shortened small intestine	Substantially shortened length of the small intestine as a result of a developmental defect.	3
Congenital stationary night blindness	A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset.	21
Congenital thrombocytopenia	Thrombocytopenia with congenital onset.	6
Congenital, generalized hypertrichosis	A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth.	3
Congestive heart failure	The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.	267
Conical incisor	An abnormal conical morphology of the incisor tooth.	39
Conical tooth	An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.	55
Conjunctival hamartoma	A hamartoma (disordered proliferation of mature tissues) of the conjunctiva.	11
Conjunctival hyperemia	Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera.	7
Conjunctival icterus	Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease.	7
Conjunctival telangiectasia	The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.	23
Conjunctivitis	Inflammation of the conjunctiva.	115
Connective tissue nevi	Connective tissue nevi are hamartomas in which one or several components of the dermis is altered.	6
Conotruncal defect	A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle.	255
Conspicuously happy disposition	An unusually happy demeanor over time, which can also be observed during inappropriate situations that should, for example, cause distress, fear, or anger.	7
Constriction of peripheral visual field	An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.	140
Constrictive median neuropathy	Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand.	14
Contiguous gene syndrome	A syndrome caused by the effects of abnormality (typically a deletion or duplication) of 2 or more adjacent genes	4
Continuous spike and waves during slow sleep	Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep.	11
Contracture of the distal interphalangeal joint of the fingers	Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers.	6
Contracture of the proximal interphalangeal joint of the 2nd finger	Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue.	5
Contracture of the proximal interphalangeal joint of the 3rd finger	Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue.	7
Contracture of the proximal interphalangeal joint of the 4th finger	Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.	5
Contracture of the proximal interphalangeal joint of the 5th finger	Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.	5
Convex nasal ridge	Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.	94
Convulsive status epilepticus	A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between.	8
Coombs-positive hemolytic anemia	A type of hemolytic anemia in which the Coombs test is positive.	9
Copper accumulation in liver	An anomalous build up of copper (Cu) in the liver.	5
Cor pulmonale	Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle.	15
Cor triatriatum	The presence of an additional membrane in the left or right cardiac atrium which results in the subdivision of the affected atrium (and thus in total three atria, whence the name).	3
Corneal arcus	A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years.	16
Corneal dystrophy	The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.	37
Corneal erosion	An erosion or abrasion of the cornea's outermost layer of epithelial cells.	45
Corneal guttata	Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible.	6
Corneal neovascularization	Ingrowth of new blood vessels into the cornea.	25
Corneal opacity	A reduction of corneal clarity.	279
Corneal perforation	A rupture of the cornea through which a portion of the iris protrudes.	3
Corneal stromal edema	Abnormal accumulation of fluid and swelling of the stroma of cornea.	11
Corneal ulceration	Disruption of the epithelial layer of the cornea with involvement of the underlying stroma.	22
Coronal cleft vertebrae	Frontal schisis (cleft or cleavage) of vertebral bodies.	18
Coronal craniosynostosis	Premature closure of the coronal suture of skull.	32
Coronal hypospadias	A mild form of hypospadias in which the urethra opens just under the corona glandis.	3
Coronary artery aneurysm	Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel.	7
Coronary artery atherosclerosis	Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia.	53
Coronary artery calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery.	4
Coronary artery fistula	A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel.	3
Coronary artery stenosis	Abnormal narrowing of the coronary artery.	6
Coronary sinus enlargement	Abnormal increase in size of the coronary sinus.	3
Corpus callosum atrophy	The presence of atrophy (wasting) of the corpus callosum.	30
Cortical cataract	A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance.	12
Cortical dysplasia	The presence of developmental dysplasia of the cerebral cortex.	56
Cortical myoclonus	Cortical myoclonus mainly affects the distal upper limbs and face, which reflects the largest cortical representations of these body areas. It is often focal, but may be multifocal, bilateral or generalized, as a consequence of intracortical and transcallosal spreading of abnormal activity. It typically occurs on voluntary action and may affect speech and gait. Cortical myoclonic jerks are stimulus sensitive, typically to touch, but sensitivity to visual stimuli is also described. Most patients with cortical myoclonus have both positive myoclonus and NM, occurring either independently or together as a complex of the two kinds of myoclonus. If cortical myoclonus is prolonged and lasts for hours, days or weeks, it is called epilepsia partials continua and is considered to be a rare form of focal epileptic status. Focal cortical myoclonus almost always points to an underlining lesion of the sensori-motor cortex, which produces hyperexcitability (e.g. vascular, inflammatory or neoplastic).	5
Cortical sclerosis	Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity.	5
Cortical thickening of long bone diaphyses	Abnormal thickening of the cortex of the diaphyseal region of long bones.	5
Cortical tubers	Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients.	3
Costal cartilage calcification	Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax.	3
Cough	A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.	154
Coxa valga	Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).	92
Coxa vara	Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.	68
Crackles	Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position.	25
Cranial asymmetry	Asymmetry of the bones of the skull.	16
Cranial hyperostosis	Excessive growth of the bones of cranium, i.e., of the skull.	44
Craniofacial asymmetry	Asymmetry of the bones of the skull and the face.	6
Craniofacial dysostosis	A characteristic appearance resulting from defective ossification of craniofacial bones.	9
Craniofacial dystonia	A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia.	118
Craniofacial hyperostosis	Excessive growth of the craniofacial bones.	27
Craniofacial osteosclerosis	Abnormally increased density of craniofacial bone tissue.	15
Craniosynostosis	Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.	188
Crazy paving pattern	The so-called crazy paving pattern appears as thickened interlobular septa and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. The crazy-paving pattern is often sharply demarcated from more normal lung and may have a geographic outline. It was originally reported in patients with alveolar proteinosis and is also encountered in other diffuse lung diseases that affect both the interstitial and airspace compartments, such as lipoid pneumonia.	4
Crescent-shaped iliac bone	Deficient mineralization of the iliac wings, giving a paraglider/crescent shape to the iliac bone.	3
Crohn's disease	A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation.	17
Crossed fused renal ectopia	A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys.	14
Crumpled ear	Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds.	6
Crumpled long bones	An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta.	6
Cryptophthalmos	Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity.	6
Cryptozoospermia	A type of oligozoospermia in which spermatozoa can be detected in an ejaculate only after centrifugation and inspection of the pellet.	6
Crystalluria	The presence of crystals in the urine.	3
Cubitus valgus	Abnormal positioning in which the elbows are turned out.	53
Cupped ear	Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).	69
Cupped ribs	Wide, concave rib end.	29
Curly eyelashes	Abnormally curly or curved eyelashes.	15
Curved toe phalanx	A deviation from the normal straight form of one or more toe phalanges.	4
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern.	7
Cutaneous T-cell lymphoma	A type of T-cell lymphoma that exhibits malignant infiltration of the skin.	3
Cutaneous abscess	A circumscribed area of pus or necrotic debris in the skin.	33
Cutaneous amyloidosis	The presence of amyloid deposition in the superficial dermis.	6
Cutaneous cyst	A hollow mass located in the skin that is surrounded by an epithelium-lined wall and is well demarcated from the adjacent tissue. Cysts are often said to be sac-like and may contain serous liquid or semisolid material.	25
Cutaneous finger syndactyly	A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers.	55
Cutaneous melanoma	The presence of a melanoma of the skin.	22
Cutaneous myxoma	A myxoma originating in the skin.	3
Cutaneous photosensitivity	An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.	116
Cutaneous syndactyly	A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits.	102
Cutaneous syndactyly of toes	A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria.	36
Cutis gyrata of scalp	The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction.	6
Cutis laxa	Wrinkled, redundant, inelastic and sagging skin.	131
Cutis marmorata	A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.	72
Cyanosis	Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.	117
Cyclopia	Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose.	21
Cystathioninemia	An increased concentration of cystathionine in the blood.	5
Cystathioninuria	An elevated urinary concentration of cystathionine.	4
Cystic hygroma	A cystic lymphatic lesion of the neck.	51
Cystic medial necrosis	A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells.	19
Cystic pattern on pulmonary HRCT	On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema.	3
Cystinuria	An increased concentration of cystine in the urine.	6
Cystoid macular edema	Cystoid macular edema (CME) is any type of macular edema that involves cyst formation.	19
Cytochrome C oxidase-negative muscle fibers	An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue.	34
Cytoplasmic antineutrophil antibody positivity	The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils.	8
D-2-hydroxyglutaric aciduria	An increased concentration of 2-hydroxyglutaric acid in the urine.	3
Dacryocystitis	Inflammation of the nasolacrimal sac.	8
Dandy-Walker malformation	A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.	139
Dark urine	An abnormal dark color of the urine.	14
Darwin tubercle of helix	Small expansion of the helical fold at the junction of the superior and descending portions of the helix.	4
Death in adolescence	Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 19 years).	23
Death in adulthood	Cessation of life at the age of 16 years or later.	44
Death in childhood	Death in during childhood, defined here as between the ages of 2 and 10 years.	130
Death in early adulthood	Death between the age of 16 and 40 years.	42
Death in infancy	Death within the first 24 months of life.	246
Decerebrate rigidity	A type of rigidity that is manifested by an exaggerated extensor posture of all extremities.	5
Decreased Achilles reflex	Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed.	11
Decreased CD4:CD8 ratio	An abnormal reduction of the relative proportion of CD4+ to CD8+ T cells.	10
Decreased CSF 5-hydroxyindolacetic acid concentration	5-HIAA (5-hydroxyindolacetic acid) concentration in the cerebrospinal fluid (CSF) is below the lower limit of normal.	4
Decreased CSF 5-methyltetrahydrofolate concentration	A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite.	3
Decreased CSF homovanillic acid concentration	Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.	9
Decreased DLCO	Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test.	26
Decreased HDL cholesterol concentration	An decreased concentration of high-density lipoprotein cholesterol in the blood.	58
Decreased LDL cholesterol concentration	An decreased concentration of low-density lipoprotein cholesterol in the blood.	13
Decreased T cell activation	Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.	9
Decreased activity of mitochondrial ATP synthase complex	A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain.	11
Decreased activity of mitochondrial complex I	A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria.	99
Decreased activity of mitochondrial complex II	A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria.	15
Decreased activity of mitochondrial complex III	A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria.	45
Decreased activity of mitochondrial complex IV	A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria.	67
Decreased activity of mitochondrial respiratory chain	Decreased activity of the mitochondrial respiratory chain.	142
Decreased adiponectin level	A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.	5
Decreased amplitude of sensory action potentials	A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies.	24
Decreased beta-galactosidase activity	Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma.	3
Decreased body mass index	Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages.	25
Decreased calvarial ossification	Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone).	17
Decreased circulating ACTH concentration	The concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), is below the lower limit of normal in the blood circulation.	30
Decreased circulating GABA concentration	A decrease in the level of GABA in the serum.	4
Decreased circulating IgA concentration	Decreased levels of immunoglobulin A (IgA).	94
Decreased circulating IgE concentration	An abnormally decreased level of immunoglobulin E (IgE) in blood.	8
Decreased circulating IgG concentration	An abnormally decreased level of immunoglobulin G (IgG) in blood.	107
Decreased circulating IgG subclass concentration	A reduction below the normal concentration of a subclass of immunoglobulin G (IgG) in the blood.	13
Decreased circulating IgG2 concentration	A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation.	10
Decreased circulating T4 concentration	A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).	23
Decreased circulating adenosylcobalamin concentration	The concentration of adenosylcobalam in the blood circulation is below the lower limit of normal. Adenosylcobalamin is one of the active forms of vitamin B12.	7
Decreased circulating aldosterone concentration	Abnormally reduced levels of aldosterone.	19
Decreased circulating androgen concentration	A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.	70
Decreased circulating antibody concentration	An abnormally decreased level of immunoglobulin in blood.	222
Decreased circulating apolipoprotein concentration	Reduced concentration in the blood circulation of a lipid-transport protein (apoliprotein).	4
Decreased circulating beta-2-microglobulin level	Reduced concentration of beta-2-microglobulin in the blood.	5
Decreased circulating calcifediol concentration	A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3.	4
Decreased circulating carnitine concentration	Concentration of carnitine in the blood circulation below the lower limit of normal.	23
Decreased circulating ceruloplasmin concentration	Decreased concentration of ceruloplasmin in the blood.	9
Decreased circulating complement C3 concentration	Concentration of the complement component C3 in the blood circulation below the lower limit of normal.	43
Decreased circulating complement C4 concentration	Concentration of the complement component C4 in the blood circulation below the lower limit of normal.	35
Decreased circulating complement factor B concentration	Concentration of the complement component factor B in the blood circulation below the lower limit of normal.	5
Decreased circulating complement factor H concentration	Concentration of the complement component factor H in the blood circulation below the lower limit of normal.	4
Decreased circulating complement factor I concentration	Concentration of the complement component factor I in the blood circulation below the lower limit of normal.	5
Decreased circulating copper concentration	A reduced concentration of copper in the blood.	8
Decreased circulating cortisol level	Abnormally reduced concentration of cortisol in the blood.	34
Decreased circulating ferritin concentration	Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood.	4
Decreased circulating follicle stimulating hormone concentration	A reduction of the circulating level of follicle-stimulating hormone (FSH).	32
Decreased circulating free T3	A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.	5
Decreased circulating free T4 concentration	A reduced concentration of free thyroxine (fT4) in the blood circulation.	6
Decreased circulating gonadotropin concentration	A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).	38
Decreased circulating inhibin B concentration	The concentration of inhibin B in the blood circulation is below the lower limit of normal.	6
Decreased circulating iron concentration	The concentration of iron in the blood circulation is below the lower limit of normal.	7
Decreased circulating level of specific antibody	The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against a specific antigen or microorganism.	50
Decreased circulating luteinizing hormone level	A reduction in the circulating level of luteinizing hormone (LH).	31
Decreased circulating methylcobalamin concentration	The concentration of methylcobalamin in the blood circulation is below the lower limit of normal. Methylcobalamin is a form of vitamin B12.	8
Decreased circulating parathyroid hormone level	An abnormally decreased concentration of parathyroid hormone.	10
Decreased circulating prealbumin concentration	Concentration of prealbumin in the blood circulation below the lower limit of normal. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status.	5
Decreased circulating progesterone	An reduced concentration of progesterone in the blood.	3
Decreased circulating renin concentration	An decreased level of renin in the blood.	12
Decreased circulating terminal complement component concentration	Concentration below the lower limit of normal of one or more components of the the terminal membrane attack complex (MAC) portion of complement, which represents the lytic, pore-forming part of the system. The MAC comprises seven components: C5b, C6, C7, C8 (a heterotrimer composed of C8alpha, C8beta and C8gamma) and multiple copies of C9.	6
Decreased circulating total IgA	Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L).	8
Decreased circulating total IgG concentration	A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.	11
Decreased circulating total IgM	An abnormally decreased level of immunoglobulin M (IgM) in blood.	76
Decreased circulating vitamin B12 concentration	The concentration of vitamin B12 in the blood circulation is below the lower limit of normal.	10
Decreased circulating vitamin D concentration	The concentration of vitamin D in the blood circulation is below the lower limit of normal.	33
Decreased circulating vitamin E concentration	A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol.	18
Decreased circulating vitamin K concentration	The concentration of vitamin K in the blood circulation is below the lower limit of normal.	13
Decreased cirrculating antimullerian hormone circulation	A reduction below the normal range of the antimullerian hormone in the circulation.	10
Decreased compound muscle action potential amplitude	Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve.	15
Decreased corneal reflex	An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids.	10
Decreased corneal sensation	Reduced ability of the cornea to respond to stimulation.	5
Decreased corneal thickness	A decreased anteroposterior thickness of the cornea.	120
Decreased distal sensory nerve action potential	A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies.	9
Decreased eosinophil count	Abnormal reduction in the count of eosinophils in the blood per volume.	9
Decreased facial expression	A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions.	148
Decreased female libido	Diminished sexual desire in female.	4
Decreased fetal movement	An abnormal reduction in quantity or strength of fetal movements.	230
Decreased fibular diameter	Reduced width of the cross sectional diameter of the fibula.	3
Decreased forced expiratory flow 25-75%	A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled.	4
Decreased glomerular filtration rate	An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.	28
Decreased heart rate variability	Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.	3
Decreased hemoglobin concentration	An abnormal reduction below normal hemoglobin concentration in the circulation.	4
Decreased hip abduction	Reduced ability to move the femur outward to the side.	7
Decreased lacrimation	Abnormally decreased lacrimation, that is, reduced ability to produce tears.	27
Decreased level of 1,5 anhydroglucitol in serum	A decrease in the level of 1,5 anhydroglucitol in the serum. 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues.	4
Decreased level of coenzyme Q10 in skeletal muscle	Reduced amount of coenzyme Q10,a naturally occurring quinone, in skeletal muscle tissue.	4
Decreased libido	Decreased sexual desire.	12
Decreased light- and dark-adapted electroretinogram amplitude	Decreased amplitude of eletrical response upon electroretinography.	16
Decreased liver function	Reduced ability of the liver to perform its functions.	213
Decreased lymphocyte apoptosis	A reduction in the rate of apoptosis in lymphocytes.	6
Decreased lymphocyte proliferation in response to anti-CD3	A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3.	10
Decreased lymphocyte proliferation in response to mitogen	A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA).	29
Decreased male libido	Reduced desire for sexual activity on the part of a male.	5
Decreased mean corpuscular hemoglobin concentration	A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.	6
Decreased mean corpuscular volume	A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters).	12
Decreased mean platelet volume	Average platelet volume below the lower limit of the normal reference interval.	4
Decreased methionine synthase activity	A reduction in methionine synthase activity.	7
Decreased methylmalonyl-CoA mutase activity	An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity.	5
Decreased miniature endplate potentials	An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.	13
Decreased mitochondrial complex III activity in liver tissue	Decreased activity of complex III of the mitochondrion in the liver.	3
Decreased motor nerve conduction velocity	A type of decreased nerve conduction velocity that affects the motor neuron.	62
Decreased nasal nitric oxide	Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure.	27
Decreased nerve conduction velocity	A reduction in the speed at which electrical signals propagate along the axon of a neuron.	109
Decreased number of large peripheral myelinated nerve fibers	A reduced number of large myelinated nerve fibers.	20
Decreased number of peripheral myelinated nerve fibers	A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).	49
Decreased palmar creases	Poorly defined or shallow palmar creases.	5
Decreased patellar reflex	Decreased intensity of the patellar reflex (also known as the knee jerk reflex).	10
Decreased plasma free carnitine	A decreased concentration of free (unbound) carnitine in the blood.	3
Decreased plasma total carnitine	A decreased concentration of total carnitine in the blood.	4
Decreased platelet glycoprotein Ib-IX-V	Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V.	3
Decreased proportion of CD3-positive T cells	Any abnormality in the proportion of CD3-positive T cells relative to the total number of T cells.	10
Decreased proportion of CD4+CD25+ regulatory T cells	An abnormally decreased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.	4
Decreased proportion of CD4-positive T cells	A reduction in the proportion of CD4-positive T cells relative to the total number of T cells.	39
Decreased proportion of CD4-positive helper T cells	A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count.	30
Decreased proportion of CD4-positive, alpha-beta memory T cells	Decresaed proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.	3
Decreased proportion of CD8-positive T cells	A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells.	11
Decreased proportion of CD8-positive, alpha-beta memory T cells	Decreased proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.	3
Decreased proportion of class-switched memory B cells	A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.	17
Decreased proportion of memory B cells	A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).	27
Decreased proportion of memory T cells	An abnormally reduced proportion of memory T cells compared to the total number of T cells in the blood.	7
Decreased proportion of naive CD4 T cells	An abnormally reduced proportion of naive CD4 T cells relative to the total number of T cells.	3
Decreased proportion of naive CD8 T cells	An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells.	4
Decreased proportion of naive T cells	An abnormally decreased proportion of naive T cells relative to the total number of T cells.	6
Decreased response to growth hormone stimulation test	Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.	132
Decreased resting energy expenditure	A reduction in the number of calories used per unit time.	11
Decreased sensory nerve conduction velocity	Reduced speed of conduction of the action potential along a sensory nerve.	26
Decreased serum bicarbonate concentration	An abnormal reduction of the concentration of bicarbonate, HCO3, in the circulation.	3
Decreased serum creatinine	An abnormally reduced amount of creatinine in the blood.	5
Decreased serum estradiol	A reduction below normal concentration of estradiol in the circulation.	54
Decreased serum insulin-like growth factor 1	A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation.	23
Decreased serum leptin	A decreased concentration of leptin in the blood.	11
Decreased serum zinc	A reduced concentration of zinc in the blood.	5
Decreased size of nerve terminals	A reduction in the size of nerve terminals.	15
Decreased skull ossification	A reduction in the magnitude or amount of ossification of the skull.	39
Decreased specific anti-polysaccharide antibody level	The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides.	7
Decreased specific antibody response to polysaccharide vaccine	A reduced ability to synthesize postvaccination antibodies against polysaccharides in vaccines, as measured by antibody titer determination following vaccination.	15
Decreased specific antibody response to protein vaccine	A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination.	15
Decreased specific antibody response to protein-conjugated polysaccharide vaccine	A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination.	6
Decreased specific antibody response to vaccination	A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination.	35
Decreased specific pneumococcal antibody level	The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci.	9
Decreased testicular size	Reduced volume of the testicle (the male gonad).	186
Decreased thalamic volume	A reduction in the quantity of space occupied by the thalamus.	10
Decreased thyroid-stimulating hormone level	Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.	12
Decreased transferrin saturation	A below normal level of saturation of serum transferrin with iron.	5
Decreased urinary potassium	A decreased concentration of potassium(1+) in the urine.	6
Decreased urinary urate	Decreased concentration of urate in the urine.	4
Decreased urine output	A decreased rate of urine production.	30
Decreased vigilance	A decrease in the ability to maintain sustained attention is characterized by reduced alertness.	10
Deep palmar crease	Excessively deep creases of the palm.	30
Deep philtrum	Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.	75
Deep plantar creases	The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot.	21
Deep venous thrombosis	Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.	22
Deep white matter hypodensities	Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter.	3
Deep-set nails	Deeply placed nails.	5
Deeply set eye	An eye that is more deeply recessed into the plane of the face than is typical.	264
Defective B cell activation	A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of	3
Defective T cell proliferation	A reduced ability of a T cell population to expand by cell division following T cell activation.	8
Deficit in grammar	Deficit in grammar, including syntax and morphology.	9
Deficit in phonologic short-term memory	Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory	5
Deformed rib cage	Malformation of the rib cage.	7
Degeneration of the lateral corticospinal tracts	Deterioration of the tissues of the lateral corticospinal tracts.	22
Deja vu aura	A subjective feeling that an experience which is occurring for the first time has been experienced before.	7
Delayed CNS myelination	Delayed myelination in the central nervous system.	198
Delayed ability to crawl	A failure to achieve the ability to crawl at an appropriate developmental stage. Normal infant motor development is marked by a series of postural milestones including learning to crawl on hands and knees between the ages of 6 and 10 months.	9
Delayed ability to roll over	Delayed achievement of the ability to roll front to back and back to front.	16
Delayed ability to sit	A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age.	82
Delayed ability to stand	A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months.	17
Delayed brainstem auditory evoked response conduction time	An abnormal increase (delay) in the conduction time of the brainstem auditory-evoked response.	4
Delayed closure of the anterior fontanelle	A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.	35
Delayed cranial suture closure	Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.	97
Delayed early-childhood social milestone development	A failure to meet one or more age-related milestones of social behavior.	21
Delayed eruption of permanent teeth	Delayed tooth eruption affecting the secondary dentition.	33
Delayed eruption of primary teeth	Delayed tooth eruption affecting the primary dentition.	17
Delayed eruption of teeth	Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.	176
Delayed fine motor development	A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands.	53
Delayed menarche	First period after the age of 15 years.	23
Delayed myelination	Delayed myelination.	279
Delayed ossification of carpal bones	Ossification of carpal bones occurs later than age-adjusted norms.	17
Delayed proximal femoral epiphyseal ossification	Developmental delay of ossification of the proximal epiphysis of the femur.	17
Delayed puberty	Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.	208
Delayed pubic bone ossification	Delayed maturation and calcification of the pubic bone.	7
Delayed somatosensory central conduction time	An abnormal increase (delay) in the somatosensory central conduction time (CCT), which can be measured from the peak of N13 to the peak of N20 (peak CCT) or from the onset of N11 to the onset of N20 (onset CCT).	4
Delayed tarsal ossification	Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.	4
Delayed umbilical cord separation	Separation of the umbilical cord occurs at an abnormally late timepoint.	5
Delayed vertebral ossification	A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age.	3
Delirium	A state of sudden and severe confusion.	10
Delusion	A delusion is a fixed false belief held despite evidence to the contrary. The term delusion broadly encompasses all false judgments that possess the following external characteristics to a significant, albeit unspecified, extent: (1) they are held with an exceptional level of conviction, accompanied by an unparalleled subjective certainty; (2) there is an inability to consider alternative experiences or compelling counter-arguments; (3) the content of the belief is impossible.	29
Dementia	A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.	223
Demyelinating motor neuropathy	Demyelination of peripheral motor nerves.	6
Demyelinating peripheral neuropathy	Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies.	65
Dense calvaria	An abnormal increase of density of the bones making up the calvaria.	3
Dental crowding	Changes in alignment of teeth in the dental arch	143
Dental enamel pits	The presence of small depressions in the dental enamel.	10
Dental malocclusion	Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.	156
Dentinogenesis imperfecta	Developmental dysplasia of dentin.	23
Dependency on parenteral nutrition	Inability to ingest sufficient quantities of nutrition by mouth or by tube-feeding with the corresponding requirement for intravenous administration of nutrition.	3
Depressed nasal ridge	Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.	129
Depressed nasal tip	Decreased distance from the nasal tip to the nasal base.	28
Dermal atrophy	Partial or complete wasting (atrophy) of the skin.	107
Dermal translucency	An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility.	27
Dermatan sulfate excretion in urine	An increased concentration of dermatan sulfate in the urine.	5
Dermatochalasis	Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge.	12
Dermatographic urticaria	An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor).	14
Dermoid cyst	A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are slowly progressive and can grow to a size of 1 to 4 cm.	7
Descending aortic dissection	A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.	21
Descending thoracic aorta aneurysm	An abnormal localized widening (dilatation) of the descending thoracic aorta.	19
Desmoid tumor	Desmoid tumors are rare, locally aggressive, fibroblastic soft-tissue tumors that are characterized by infiltrative growth and tendency to recur. Desmoid tumors do not metastasize but can arise in any part of the body: extra-abdominal (appear in the head and neck, chest, extremities), and abdominal wall or intra-abdominal (originating in tissue that connects abdominal organs).	7
Desquamative interstitial pneumonitis	Diffuse filling of the distal airspaces of the lungs, the alveoli, with macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally by thickened alveolar septa and by a sparse inflammatory infiltrate that often includes plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal pneumocytes. Lymphoid aggregates may be present.	4
Developmental cataract	A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.	148
Developmental glaucoma	Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma.	75
Developmental stagnation	A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills.	20
Deviated nasal septum	Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum.	7
Deviation of the 2nd finger	Displacement of the 2nd finger from its normal position.	20
Deviation of the 3rd finger	Displacement of the 3rd finger from its normal position.	10
Deviation of the 4th finger	Displacement of the 4th finger from its normal position.	7
Deviation of the hallux	Displacement of the big toe from its normal position.	87
Deviation of the thumb	Displacement of the thumb from its normal position.	53
Dexamethasone-suppressible primary hyperaldosteronism	A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone.	5
Dextrocardia	'The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or \''mirror reflection\'') of the anatomical location of the heart in which the heart is locate on the right side instead of the left.'	141
Dextrotransposition of the great arteries	A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA.	6
Diabetes insipidus	A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus).	62
Diabetic ketoacidosis	A type of diabetic metabolic abnormality with an accumulation of ketone bodies.	20
Dialeptic seizure	A dialeptic seizure is a type of seizure characterized predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event.	244
Diaphragmatic eventration	A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development.	21
Diaphragmatic paralysis	The presence of a paralyzed diaphragm.	7
Diaphragmatic weakness	A decrease in the strength of the diaphragm.	17
Diaphyseal sclerosis	An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.	9
Diaphyseal undertubulation	Tubulation refers to the size and shape of tubular bones. In children and adolescents, the modeling process regulates normal bone growth. Final shaft (tube) diameter depends on appositional bone growth and the equilibrium between periosteal and endosteal bone resorption and formation. Undertubulation refers to a broad, widened form of the shafts (diaphyses) of long bones.	17
Diastasis recti	A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).	28
Diastema	Increased space between two adjacent teeth in the same dental arch.	26
Dicarboxylic aciduria	An increased concentration of dicarboxylic acid in the urine.	68
Difficulty climbing stairs	Reduced ability to climb stairs.	65
Difficulty running	Reduced ability to run.	54
Diffuse alveolar hemorrhage	A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen.	17
Diffuse cerebellar atrophy	Diffuse unlocalised atrophy affecting the cerebellum.	21
Diffuse cerebral atrophy	Diffuse unlocalised atrophy affecting the cerebrum.	54
Diffuse demyelination of the cerebral white matter	A diffuse loss of myelin from nerve fibers in the central nervous system.	4
Diffuse hepatic steatosis	A diffuse form of hepatic steatosis.	4
Diffuse mesangial sclerosis	Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion.	41
Diffuse optic disc pallor	A pale yellow discoloration of the entire optic disc.	15
Diffuse palmoplantar hyperkeratosis	Diffuse abnormal thickening of the skin on the palms and soles.	11
Diffuse pancreatic islet hyperplasia	Hyperplasia of the islets of Langerhans with a generalized distribution.	3
Digenic inheritance	A type of multifactorial inheritance governed by the simultaneous action of two gene loci.	16
Digital flexor tenosynovitis	Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit.	7
Digital pitting scar	Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe.	4
Digital ulcer	An open sore on the surface of the skin of a finger or toe.	9
Dilatated internal auditory canal	The presence of a dilated inner part of external acoustic meatus.	5
Dilatation of an abdominal artery	Abnormal outpouching or sac-like dilatation in an artery that originates from the abdominal aorta.	3
Dilatation of renal calices	An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine.	6
Dilatation of the bladder	The presence of a dilated urinary bladder.	12
Dilatation of the cerebral artery	The presence of a localized dilatation or ballooning of a cerebral artery.	51
Dilatation of the renal pelvis	The presence of dilatation of the renal pelvis.	281
Dilatation of the ventricular cavity	A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole.	11
Dilated cardiomyopathy	Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.	182
Dilated fourth ventricle	An abnormal dilatation of the fourth cerebral ventricle.	162
Dilated superficial abdominal veins	Increase in diameter of the veins located underneath the skin of the abdomen.	4
Dilated third ventricle	An increase in size of the third ventricle.	16
Dilation of Virchow-Robin spaces	Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery.	18
Diminished ability to concentrate	The inability to focus or concentrate on a specific task, activity, or object. The subject may find themselves unable to grasp or understand written text and re-reads frequently without understanding. Familiar tasks or activities are severely compromised due to the lack of ability to concentrate. Thinking through multi-step problems is typically very difficult or impossible, leading to avoidance of such activities.	12
Dimple chin	A persistent midline depression of the skin over the fat pad of the chin.	18
Diplopia	Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.	93
Discoid lupus rash	Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy.	39
Dislocated radial head	A dislocation of the head of the radius from its socket in the elbow joint.	48
Disorder of thought content	Thought content disorders are characterized by abnormal beliefs and convictions (that are to be assessed given the culture and personal background of the affected individual).	74
Disordered formal thought process	An abnormality in the dynamic mode, rate, or form of thought processes as recognized from the flow of ideas expressed in speech. Successive thoughts and speech are easily diverted by external stimuli or internal superficial associations. Unable to maintain a constant train of thought and loose themselves in side issues, losing the thread and are unable to recover it. Superficial connections appear to drive the subject matter.	37
Disproportionate short stature	A kind of short stature in which different regions of the body are shortened to differing extents.	137
Disproportionate short-limb short stature	A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.	109
Disproportionate short-trunk short stature	A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.	28
Disproportionate tall stature	A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.	41
Disseminated intravascular coagulation	Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels.	29
Disseminated molluscum contagiosum	The presence of molluscum contagiosum lesions across multiple areas of the body.	3
Disseminated nontuberculous mycobacterial infection	An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease.	3
Dissociated sensory loss	A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa.	4
Distal amyotrophy	Muscular atrophy affecting muscles in the distal portions of the extremities.	228
Distal arthrogryposis	An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function.	26
Distal femoral bowing	A bending or abnormal curvature of the distal portion of the femur.	4
Distal joint hypermobility	Lack of stability of a distal joint (e.g., finger).	9
Distal lower limb amyotrophy	Muscular atrophy of distal leg muscles.	58
Distal lower limb muscle weakness	Reduced strength of the distal musculature of the legs.	94
Distal muscle weakness	Reduced strength of the musculature of the distal extremities.	234
Distal peripheral sensory neuropathy	Peripheral sensory neuropathy affecting primarily distal sensation.	20
Distal renal tubular acidosis	A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia.	6
Distal sensory impairment	An abnormal reduction in sensation in the distal portions of the extremities.	135
Distal sensory impairment of all modalities	Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities.	11
Distal symphalangism of hands	The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases.	7
Distal upper limb amyotrophy	Muscular atrophy of distal arm muscles.	67
Distal upper limb muscle weakness	Reduced strength of the distal musculature of the arms.	47
Distichiasis	Double rows of eyelashes.	8
Disturbance during transitions between sleep and wake states	A group of parasomnias that occur during the transition from wakefulness to sleep or from one sleep stage to another. Rhythmic Movement Disorder, Sleep Starts, Sleep Talking, and Nocturnal Leg Cramps - these four disorders belong to Sleep-Wake Transition Disorders in the International Classification of Sleep Disorders.	19
Disturbance of facial expression	An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed.	35
Disturbed perception with a stimulus	A perceptual experience in which an individual's perception of sensory stimuli is altered or disrupted in some way, resulting in abnormal or distorted sensory perceptions despite the presence of actual external stimuli.	36
Disturbed sensory perception	Alteration or impairment in the processing or interpretation of sensory information can lead to abnormal perceptions or experiences.	36
Dolichocephaly	An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.	217
Doll-like facies	A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin.	3
Dorsocervical fat pad	An area of fat accumulation at the back of the neck in the form of a hump.	17
Double aortic arch	A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor).	7
Double inlet atrioventricular connection	The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve.	3
Double inlet left ventricle	The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual.	3
Double outlet right ventricle	Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle.	88
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.	4
Double tooth	Fusion of two adjacent teeth.	4
Down-sloping shoulders	Low set, steeply sloping shoulders.	44
Downbeat nystagmus	Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone.	7
Downturned corners of mouth	A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.	178
Drooling	Habitual flow of saliva out of the mouth.	161
Drowsiness	Abnormal feeling of sleepiness or difficulty staying awake.	57
Drug allergy	Hypersensitivity in form of an adverse immune reaction against drugs.	3
Drumstick terminal phalanges	Rounding and broadening of the tufts of the distal phalanges.	3
Drusen	Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye.	28
Dry hair	Hair that lacks the luster (shine or gleam) of normal hair.	20
Dry skin	Skin characterized by the lack of natural or normal moisture.	194
Duane anomaly	A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction	25
Ductal carcinoma in situ	Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer.	4
Dumbbell-shaped femur	The femur is shortened and displays flaring (widening) of the metaphyses.	4
Dumbbell-shaped long bone	An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses.	7
Duodenal adenocarcinoma	A malignant epithelial tumor with a glandular organization that originates in the duodenum.	7
Duodenal atresia	A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.	44
Duodenal polyposis	Presence of multiple polyps in the duodenum.	5
Duodenal stenosis	The narrowing or partial blockage of a portion of the duodenum.	29
Duodenal ulcer	An erosion of the mucous membrane in a portion of the duodenum.	12
Duodenitis	Inflammation of the lining of the upper small intestine (duodenum).	3
Duplicated collecting system	A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice.	23
Duplication of distal phalanx of toe	A partial or complete duplication of one or more distal phalanx of toe.	4
Duplication of phalanx of 3rd finger	This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.	3
Duplication of phalanx of hallux	Partial or complete duplication of one or more phalanx of big toe.	13
Duplication of phalanx of hand	This term applies if one or more of the phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.	228
Duplication of phalanx of toe	Partial/complete duplication of one or more phalanx of toe.	14
Duplication of renal pelvis	A duplication of the renal pelvis.	13
Duplication of the distal phalanx of hand	This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.	12
Duplication of the distal phalanx of the thumb	Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side.	6
Duplication of thumb phalanx	Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.	60
Dural ectasia	A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level.	24
Dynein arm defect of respiratory motile cilia	An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy.	16
Dyscalculia	A specific learning disability involving mathematics and arithmetic.	24
Dyschromatopsia	A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments.	55
Dysdiadochokinesis	A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.	60
Dysesthesia	Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds.	20
Dysgammaglobulinemia	Selective deficiency of one or more, but not all, classes of immunoglobulins.	5
Dysgenesis of the basal ganglia	Structural abnormality of the basal ganglia related to defective development.	5
Dysgenesis of the cerebellar vermis	Defective development of the vermis of cerebellum.	7
Dysgenesis of the hippocampus	Structural abnormality of the hippocampus related to defective development.	16
Dysgerminoma	The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary.	3
Dysgraphia	A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment.	53
Dysgyria	An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation.	7
Dyskinesia	A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.	197
Dyslexia	A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent).	32
Dysmenorrhea	Pain during menstruation that interferes with daily activities.	14
Dysmetria	A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.	179
Dysmetric saccades	The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results.	17
Dyspareunia	Recurrent or persistent genital pain associated with sexual intercourse.	37
Dysphonia	Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause.	159
Dysplasia of the femoral head	The presence of developmental dysplasia of the femoral head.	6
Dysplastic aortic valve	A congenital malformation of the aortic valve characterized by leaflet deformation.	4
Dysplastic corpus callosum	Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium.	45
Dysplastic pulmonary valve	A congenital malformation of the pulmonary valve characterized by leaflet deformation.	4
Dysplastic tricuspid valve	A congenital malformation of the tricuspid valve characterized by leaflet deformation.	4
Dystrophic fingernails	The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate.	32
Dystrophic toenail	Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate.	22
Dysuria	Painful or difficult urination.	18
EEG with abnormally slow frequencies	EEG with abnormally slow frequencies.	88
EEG with burst suppression	The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes.	59
EEG with central epileptiform discharges	Focal epileptiform EEG discharges recorded in the central region.	4
EEG with central focal spikes	EEG with focal sharp transient waves of a duration less than 80 msec in the central region.	4
EEG with centrotemporal epileptiform discharges	Focal epileptiform EEG discharges recorded in the centrotemporal region.	5
EEG with centrotemporal focal spike waves	EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.	5
EEG with continuous slow activity	EEG showing diffuse slowing without interruption.	8
EEG with focal epileptiform discharges	EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).	117
EEG with focal sharp slow waves	EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.	12
EEG with focal sharp waves	EEG with focal sharp transient waves of a duration between 80 and 200 msec.	12
EEG with focal spike waves	EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave.	16
EEG with focal spikes	EEG with focal sharp transient waves of a duration less than 80 msec.	26
EEG with frontal epileptiform discharges	Focal epileptiform EEG discharges recorded in the frontal region.	6
EEG with frontal focal spikes	EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region.	5
EEG with generalized epileptiform discharges	EEG discharges recorded on the entire scalp typically seen in persons with epilepsy.	269
EEG with generalized polyspikes	EEG with repetitive generalized sharp transient waves of a duration less than 80 msec.	7
EEG with generalized sharp slow waves	EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.	10
EEG with generalized slow activity	Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).	29
EEG with irregular generalized spike and wave complexes	EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency.	13
EEG with multifocal slow activity	Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).	52
EEG with occipital epileptiform discharges	Focal epileptiform EEG discharges recorded in the occipital region.	4
EEG with parietal epileptiform discharges	Focal epileptiform EEG discharges recorded in the parietal region.	6
EEG with parietal focal spikes	EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region.	4
EEG with photoparoxysmal response	EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns.	7
EEG with polyspike wave complexes	The presence of complexes of repetitive spikes and waves in EEG.	49
EEG with spike-wave complexes	Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).	88
EEG with spike-wave complexes (2.5-3.5 Hz)	The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG).	8
EEG with spike-wave complexes (>3.5 Hz)	The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG).	4
EEG with temporal epileptiform discharges	Focal epileptiform EEG discharges recorded in the temporal region.	3
EEG with temporal focal spikes	EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region.	3
EMG abnormality	Abnormal results of investigations using electromyography (EMG).	290
EMG: axonal abnormality	Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials.	15
EMG: chronic denervation signs	Evidence of chronic denervation on electromyography.	28
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation.	29
EMG: impaired neuromuscular transmission	An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP).	35
EMG: myopathic abnormalities	The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.	128
EMG: myotonic discharges	High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound.	9
EMG: myotonic runs	Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG).	3
EMG: neuropathic changes	The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).	54
EMG: positive sharp waves	These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform.	9
EMG: slow motor conduction	The presence of reduced conduction velocity of motor nerves on electromyography.	5
Ear pain	Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia).	15
Early chronotype	A tendency towards rising very early in the morning and going to bed early in the evening.	4
Early onset absence seizures	Typical absence seizures starting before the age of 4 years.	4
Early onset of sexual maturation	An early onset of puberty, in this case early does not refer to precocious.	185
Early satiety	The condition of being unable to eat a full meal because of a feeling of fullness (satiety), or or feeling very full after eating only a small amount of food.	6
Early young adult onset	Onset of disease at an age of greater than or equal to 16 to under 19 years.	63
Easy fatigability	Increased susceptibility to fatigue.	90
Ebstein anomaly of the tricuspid valve	Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet.	6
Eccentric visual fixation	A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees.	10
Ecchymosis	A purpuric lesion that is larger than 1 cm in diameter.	57
Echogenic fetal bowel	Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone.	5
Echolalia	Echolalia is the automatic imitative repetition of sounds, words, or phrases in the absence of explicit awareness. The repeated words or phrases are typically odd or used in a non-social manner. These can be words or phrases that the affected individual has heard or invented.	44
Eclabion	A turning outward of the lip or lips, that is, eversion of the lips.	170
Eclampsia	An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders.	8
Ectodermal dysplasia	Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.	26
Ectopia lentis	Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.	43
Ectopia pupillae	A malposition of the pupil owing to a developmental defect of the iris.	23
Ectopic anterior pituitary gland	Abnormal anatomic location of the anterior pituitary gland.	9
Ectopic anus	Abnormal displacement or malposition of the anus.	92
Ectopic calcification	Deposition of calcium salts in a tissue or location in which calcification does not normally occur.	251
Ectopic kidney	A developmental defect in which a kidney is located in an abnormal anatomic position.	93
Ectopic ossification	Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist.	4
Ectopic posterior pituitary	An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis.	21
Ectopic pregnancy	A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube).	44
Ectopic thyroid	Mislocalised thyroid gland.	4
Ectrodactyly	A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet.	71
Ectropion	An outward turning (eversion) or rotation of the eyelid margin.	71
Eczematoid dermatitis	Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.	180
Edema of the dorsum of feet	An abnormal accumulation of fluid beneath the skin on the back of the feet.	5
Edema of the dorsum of hands	An abnormal accumulation of fluid beneath the skin on the back of the hands.	15
Effort-induced polymorphic ventricular tachycardia	Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration.	3
Elbow contracture	A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.	108
Elbow dislocation	Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.	80
Elbow flexion contracture	An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.	96
Electron transfer flavoprotein-ubiquinone oxidoreductase defect	A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase.	3
Electronegative electroretinogram	A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source: Holder GE., Inherited Chorioretinal Dystrophies: A Textbook and Atlas; 2014; p.17; ISBN 978-3-540-69466-3).	18
Elevated alkaline phosphatase of bone origin	An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.	13
Elevated alkaline phosphatase of hepatic origin	An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.	4
Elevated amniotic fluid alpha-fetoprotein	An elevation of alpha-feto protein measured in the amniotic fluid.	4
Elevated brain N-acetyl aspartate level by MRS	An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).	4
Elevated brain choline level by MRS	An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).	9
Elevated brain lactate level by MRS	An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).	42
Elevated bronchoalveolar lavage fluid lymphocyte proportion	Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases.	3
Elevated bronchoalveolar lavage fluid neutrophil proportion	Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases.	6
Elevated circulating 17-hydroxyprogesterone concentration	An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase.	3
Elevated circulating C-reactive protein concentration	An abnormal elevation of the C-reactive protein level in the blood circulation.	81
Elevated circulating C16 acylcarnitine concentration	Concentration of C16 acylcarnitines in the blood circulation above the upper limit of normal. C16 acylcarnitines have a sixteen-carbon acyl chain.	3
Elevated circulating D-dimer concentration	An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation.	3
Elevated circulating acylcarnitine concentration	Concentration of acylcarnitine in the blood circulation above the upper limit of normal.	19
Elevated circulating alanine aminotransferase concentration	An abnormally high concentration in the circulation of alanine aminotransferase (ALT).	81
Elevated circulating aldolase concentration	Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation above the upper limit of normal.	9
Elevated circulating alkaline phosphatase concentration	Abnormally increased serum levels of alkaline phosphatase activity.	117
Elevated circulating alpha-fetoprotein concentration	Concentration of alpha-fetoprotein in the blood circulation above the upper limit of normal.	31
Elevated circulating aspartate aminotransferase concentration	The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.	81
Elevated circulating calcitonin concentration	Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation above the upper limit of normal.	22
Elevated circulating catecholamine level	An abnormal increase in catecholamine concentration in the blood.	11
Elevated circulating creatinine concentration	An increased amount of creatinine in the blood.	51
Elevated circulating erythropoietin concentration	Increased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.	3
Elevated circulating follicle stimulating hormone level	An elevated concentration of follicle-stimulating hormone in the blood.	55
Elevated circulating glutaric acid concentration	An increased concentration of glutaric acid in the blood.	6
Elevated circulating growth hormone concentration	Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness.	16
Elevated circulating hepcidin concentration	Concentration of hepcidin in the blood circulation above the upper limit of normal.	3
Elevated circulating long chain fatty acid concentration	Increased concentration of long-chain fatty acids in the blood circulation.	5
Elevated circulating long-chain acylcarnitine concentration	Concentration of long-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Long-chain acylcarnitines have between thirteen and twenty carbon atoms in the acyl-chain (C13-C20),	5
Elevated circulating luteinizing hormone level	An elevated concentration of luteinizing hormone in the blood.	41
Elevated circulating osteopontin level	Abnormally increased level of osteopontin in the blood circulation	4
Elevated circulating palmitoleylcarnitine concentration	An elevated level of propionylcarnitine in the circulation. Propionylcarnitine is present in high abundance in the urine of patients with Methylmalonyl-CoA mutase (MUT) deficiency.	3
Elevated circulating parathyroid hormone level	An abnormal increased concentration of parathyroid hormone.	23
Elevated circulating phytanic acid concentration	An abnormal elevation of phytanic acid.	16
Elevated circulating porphyrin concentration	Concentration of porphyrins or of a specific porphryin above the upper limit of normal. The most commonly tested circulating porphyrins are coproporphyrin, protoporphyrin, and uroporphyrin. Normally protoporphyrin is present in the highest concentration.	8
Elevated circulating propionylcarnitine concentration	Increased concentration of propionylcarnitine in the blood circulation.	3
Elevated circulating short-chain acylcarnitine concentration	Concentration of short-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Short chain acylcarnitines have between two and five carbon atoms in the acyl-chain (C2-C5),	6
Elevated circulating thyroid-stimulating hormone concentration	Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation.	30
Elevated diastolic blood pressure	Abnormal increase in diastolic blood pressure.	13
Elevated erythrocyte sedimentation rate	An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.	76
Elevated gamma-glutamyltransferase level	Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.	46
Elevated hemoglobin A1c	An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements.	27
Elevated hepatic iron concentration	An increased level of iron in liver tissues.	12
Elevated jugular venous pressure	Increased jugular venous pressure.	4
Elevated lactate:pyruvate ratio	An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation.	21
Elevated maternal circulating alpha-fetoprotein concentration	Increase in the levels of maternal serum alpha-fetoprotein levels during pregnancy.	5
Elevated mean arterial pressure	An abnormal increase in the average blood pressure in an individual during a single cardiac cycle.	10
Elevated plasma citrulline	An increased concentration of citrulline in the blood.	5
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.	4
Elevated pulmonary artery pressure	An abnormally elevated blood pressure in the circulation of the pulmonary artery.	160
Elevated red cell adenosine deaminase activity	Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.	26
Elevated serum 11-deoxycortisol	Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone.	9
Elevated serum anion gap	An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration).	6
Elevated sweat chloride	An increased concentration of chloride in the sweat.	27
Elevated systolic blood pressure	Abnormal increase in systolic blood pressure.	14
Elevated tissue non-specific alkaline phosphatase	An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.	17
Elevated total serum tryptase	An abnormally elevated concentration of total tryptase (alpha and beta tryptase) in the blood circulation.	6
Elevated transferrin saturation	An above normal level of saturation of serum transferrin with iron.	11
Elevated urinary 3-hydroxybutyric acid	An increased amount of 3-hydroxybutyric acid in the urine.	5
Elevated urinary 3-methylcrotonylglycine level	An abnormally increased amount of 3-methylcrotonylglycine in the urine.	3
Elevated urinary 5-hydroxyhexanoic acid level	The amount of 5-hydroxyhexanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal.	3
Elevated urinary carboxylic acid	An increased amount of carboxylic acid in the urine.	99
Elevated urinary catecholamine level	The concentration of a catecholamine in the urine, normalized for urine concentration, is above the upper limit of normal.	26
Elevated urinary collagen degradation products	Increased level in the urine of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease.	5
Elevated urinary delta-aminolevulinic acid	An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine.	5
Elevated urinary dopamine level	The concentration of dopamine in the urine, normalized for urine concentration, is above the upper limit of normal.	18
Elevated urinary epinephrine level	The concentration of epinephrine in the urine, normalized for urine concentration, is above the upper limit of normal.	17
Elevated urinary homovanillic acid	An increased concentration of homovanillic acid in the urine.	8
Elevated urinary monocarboxylic acid level	Abnormally increased amount of a monocarboxylic acid in the urine. Monocarboxylic acids are molecules with one COOH functional group.	11
Elevated urinary norepinephrine level	The concentration of noradrenaline in the urine, normalized for urine concentration, is above the upper limit of normal.	18
Elevated urinary vanillylmandelic acid	An increased concentration of vanillylmandelic acid in the urine.	8
Elfin facies	This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations.	22
Elliptocytosis	The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear.	12
Elongated superior cerebellar peduncle	Increased length of the superior cerebellar peduncle.	10
Embryonal renal neoplasm	The presence of an embryonal neoplasm of the kidney that primarily affects children.	48
Emotional dearth	The inability to feel or express emotions. It is generally recognized by the person who often complains that they are unable to feel anything; sadness, joy, or contentment are not experienced, rather a sense of nothingness prevails. This may be dimensional, ranging from limited ability to experience emotions to the perceived complete inability to feel emotions.	9
Emotional lability	Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.	163
Enamel hypomineralization	A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect.	10
Enamel hypoplasia	Developmental hypoplasia of the dental enamel.	104
Encephalocele	A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.	119
Encephalomalacia	Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury.	12
Enchondroma	A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus.	23
Endocardial fibroelastosis	Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction	7
Endocardial fibrosis	The presence of excessive connective tissue in the endocardium.	6
Endocarditis	An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves.	17
Endometrial carcinoma	A carcinoma of the endometrium, the mucous lining of the uterus.	26
Enhancement of the C-reflex	Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response.	4
Enlarged cerebellum	An abnormally increased size of the cerebellum compared to other brain structures.	7
Enlarged cisterna magna	Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata.	60
Enlarged cochlear aqueduct	Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular.	4
Enlarged epiphyses	Increased size of epiphyses.	15
Enlarged joints	Increase in size of one or more joints.	13
Enlarged kidney	An abnormal increase in the size of the kidney.	48
Enlarged metaphyses	Abnormal increase in size of one or more metaphyses.	7
Enlarged naris	Increased aperture of the nostril.	6
Enlarged pituitary gland	An abnormally increased size of the pituitary gland.	14
Enlarged posterior fossa	Abnormal increased size of the posterior cranial fossa.	191
Enlarged sylvian cistern	An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure).	4
Enlarged tonsils	Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat.	7
Enlarged vestibular aqueduct	Increased size of the vestibular aqueduct.	9
Enlargement of parotid gland	Increased size of the parotid gland.	3
Enlargement of the costochondral junction	Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.	10
Enterocolitis	An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine).	20
Entrapment neuropathy	Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss.	15
Entropion	An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital.	20
Enuresis	Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible.	34
Enuresis nocturna	Enuresis occurring during sleeping hours.	12
Eosinophilia	Increased count of eosinophils in the blood.	58
Eosinophilic infiltration of the esophagus	Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus.	10
Ependymoma	The presence of an ependymoma of the central nervous system.	18
Epiblepharon	Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva.	7
Epicanthus inversus	A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus.	15
Epidermal acanthosis	Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).	54
Epidermal nevus	Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood.	12
Epidermoid cyst	Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts.	19
Epididymal cyst	A smooth, extratesticular, spherical cyst in the head of the epididymis.	5
Epididymal neoplasm	A tumor (abnormal growth of tissue) of the epididymis, an duct that transports spermatozoa from the testis to the vas deferens.	5
Epididymitis	The presence of inflammation of the epididymis.	21
Epidural hemorrhage	Hemorrhage occurring between the dura mater and the skull.	6
Epigastric pain	Pain that is localized to the region of the upper abdomen immediately below the ribs.	12
Epilepsia partialis continua	Epilepsia partialis continua (also called Kojevnikov's or Kozhevnikov's epilepsia) is a type of focal motor status epilepticus characterized by repeated stereotyped simple motor manifestations such as jerks, typically of a limb or the face, recurring every few seconds or minutes for extended periods (days or years).	12
Epileptic aura	An epileptic aura is a purely subjective clinical manifestation of an epileptic seizure. If an epileptic aura is not followed by loss of awareness or propagation to a bilateral tonic-clonic seizure then it is a type of focal aware non-motor seizure.	22
Epileptic encephalopathy	A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.	119
Epileptic spasm	A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages	205
Epiphora	Abnormally increased lacrimation, that is, excessive tearing (watering eye).	27
Epiphyseal stippling	The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses.	40
Epiphyseal stippling of finger phalanges	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers.	3
Epiretinal membrane	An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy.	13
Episcleritis	Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye.	5
Episodic abdominal pain	An intermittent form of abdominal pain.	36
Episodic ataxia	Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days.	30
Episodic fatigue	Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation.	3
Episodic flaccid weakness	Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching.	7
Episodic hemiplegia	Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body.	4
Episodic hemolytic anemia	A form of hemolytic anemia that occurs in repeated episodes.	3
Episodic hyperhidrosis	Intermittent episodes of abnormally increased perspiration.	27
Episodic hypokalemia	An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes.	6
Episodic ketoacidosis	Intermittent episodes of ketoacidosis.	4
Episodic metabolic acidosis	Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids.	5
Episodic pain	Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals.	39
Episodic paroxysmal anxiety	Recurrent attacks of severe anxiety, which occur without restriction to any particular situation or set of circumstances, are therefore unpredictable.	17
Episodic tachypnea	Episodes of very rapid breathing.	46
Episodic vomiting	Paroxysmal, recurrent episodes of vomiting.	63
Epispadias	Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias.	29
Epistaxis	Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.	107
Epithelial neoplasm	A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas .	7
Equinus calcaneus	Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees.	8
Erectile dysfunction	A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological.	70
Erlenmeyer flask deformity of the femurs	Flaring of distal femur.	8
Erosion of oral mucosa	Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion.	105
Erratic myoclonus	A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous.	5
Eruption failure	A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential.	17
Eruptive vellus hair cyst	A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge.	4
Eruptive xanthomas	Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur.	5
Erysipelas	Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system.	11
Erythema	Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.	133
Erythema nodosum	An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral.	27
Erythematous papule	A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color.	12
Erythematous plaque	A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation.	15
Erythrocyte inclusion bodies	Nuclear or cytoplasmic aggregates of substances in red blood cells.	11
Erythroderma	An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.	66
Erythrodontia	Reddish, brown opalescent discoloration of teeth in normal light.	3
Erythroid dysplasia	Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts.	5
Erythroid hyperplasia	Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.	20
Erythroid hypoplasia	Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.	31
Erythromelalgia	Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet.	10
Esodeviation	A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally.	233
Esophageal atresia	A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach.	34
Esophageal carcinoma	The presence of a carcinoma of the esophagus.	13
Esophageal neoplasm	A tumor (abnormal growth of tissue) of the esophagus.	29
Esophageal stenosis	An abnormal narrowing of the lumen of the esophagus.	33
Esophageal stricture	A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen.	20
Esophageal ulceration	Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus.	7
Esophageal varix	Extreme dilation of the submucusoal veins in the lower portion of the esophagus.	45
Esophagitis	Inflammation of the esophagus.	37
Esophoria	A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters.	5
Esotropia	A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.	205
Ethylmalonic aciduria	The concentration of ethylmalonic acid in the urine, normalized for urine concentration, is above the upper limit of normal.	9
Eunuchoid habitus	A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more).	22
Euryblepharon	Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening.	9
Euthyroid goiter	A goiter that is not associated with functional thyroid abnormalities.	6
Euthyroid hyperthyroxinemia	Increased levels of thyroxine without evidence of clinical thyroid disease.	3
Everted lower lip vermilion	An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.	137
Everted upper lip vermilion	Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip.	23
Ewing sarcoma	A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones.	4
Exaggerated cupid's bow	More pronounced paramedian peaks and median notch of the Cupid's bow.	38
Exaggerated median tongue furrow	Increased depth of the median tongue furrow.	5
Exaggerated startle response	An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face.	33
Exanthem	A widespread rash.	22
Excessive bleeding from superficial cuts	An abnormally increased degree of bleeding following a superficial injury to the surface of the skin.	5
Excessive daytime somnolence	A state of abnormally strong desire for sleep during the daytime.	77
Excessive insulin response to glucagon test	An abnormally high increase in insulin levels following a glucagon stimulation test.	4
Excessive salivation	Excessive production of saliva.	170
Excessive shyness	Atypically high degree of awkwardness or apprehension experienced when approaching or being approached by others.	11
Exercise intolerance	A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.	154
Exercise-induced muscle cramps	Sudden and involuntary contractions of one or more muscles brought on by physical exertion.	17
Exercise-induced muscle fatigue	An abnormally increased tendency towards muscle fatigue induced by physical exercise.	12
Exercise-induced muscle stiffness	A type of muscle stiffness that occurs following physical exertion.	8
Exercise-induced myalgia	The occurrence of an unusually high amount of muscle pain following exercise.	37
Exercise-induced myoglobinuria	Presence of myoglobin in the urine following exercise.	12
Exercise-induced rhabdomyolysis	Rhabdomyolysis induced by exercise.	6
Exertional dyspnea	Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest.	146
Exocrine pancreatic insufficiency	Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.	72
Exodeviation	A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally.	125
Exophoria	A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia.	6
Exostoses	An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.	21
Exostosis of the external auditory canal	A benign bony growth projecting outward from a bone surface within the external auditory canal.	4
Exotropia	A form of strabismus with one or both eyes deviated outward.	109
Experiential epileptic aura	Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.	10
Expressive aphasia	Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it.	12
Expressive language delay	A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.	54
Exstrophy	Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall.	7
External ophthalmoplegia	Paralysis of the external ocular muscles.	75
Extra-axial cerebrospinal fluid accumulation	An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space.	14
Extraadrenal pheochromocytoma	Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia.	17
Extractable nuclear antigen positivity	The presence of autoantibodies in the serum that react against extractable nuclear components that are referred to as extractable because they can be extracted from cell nuclei with saline solution.	34
Extrahepatic cholestasis	Impairment of bile flow due to obstruction in large bile ducts outside the liver.	10
Extramedullary hematopoiesis	The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms.	20
Extrapyramidal muscular rigidity	Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).	16
Extremely elevated creatine kinase	An increased creatine kinase level more than 50X above the upper normal level.	3
Exudative retinal detachment	A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium.	5
Eye movement-induced pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding.	5
Eye of the tiger anomaly of globus pallidus	The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity of the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. The sign is thought to represent iron accumulation in the globus pallidus.	11
Eye poking	Repetitive pressing, poking, and/or rubbing in the eyes.	5
Eyelid coloboma	A short discontinuity of the margin of the lower or upper eyelid.	36
Eyelid myoclonia seizure	An eyelid myoclonia seizure is a type of generalized myoclonic seizure which may or may not be associated with loss of awareness.	7
Eyelid myoclonus	Marked, involuntary jerking of the eyelids.	9
Facial asymmetry	An abnormal difference between the left and right sides of the face.	148
Facial capillary hemangioma	Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face.	11
Facial diplegia	Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy).	43
Facial erythema	Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin.	12
Facial hemangioma	Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face.	23
Facial hirsutism	Excess facial hair.	18
Facial hyperostosis	Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton.	5
Facial hypertrichosis	Excessive, increased hair growth located in the facial region.	206
Facial hypotonia	Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).	48
Facial myokymia	Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve).	8
Facial neoplasm	A tumor (abnormal growth of tissue) of the face.	3
Facial palsy	Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.	187
Facial paralysis	Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve).	10
Facial telangiectasia	Telangiectases (small dilated blood vessels) located near the surface of the skin of the face.	16
Facial tics	Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face.	15
Facial wrinkling	Excessive wrinkling of the skin of the face.	3
Failure of eruption of permanent teeth	Lack of tooth eruption of the secondary dentition.	5
Failure to thrive secondary to recurrent infections	Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections.	6
Fair hair	A lesser degree of hair pigmentation than would otherwise be expected.	18
Falciform retinal fold	An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset.	6
Fasciculations	Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.	136
Fasting hyperinsulinemia	An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake.	9
Fat malabsorption	Abnormality of the absorption of fat from the gastrointestinal tract.	69
Fatigable weakness	A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.	120
Fatigable weakness of bulbar muscles	A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.	60
Fatigable weakness of distal limb muscles	A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.	8
Fatigable weakness of neck muscles	A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.	13
Fatigable weakness of respiratory muscles	A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.	58
Fatigable weakness of skeletal muscles	A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.	45
Fatigable weakness of swallowing muscles	A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.	42
Fatiguable weakness of proximal limb muscles	A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.	22
Fatty replacement of skeletal muscle	Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers	39
Fava bean-induced hemolytic anemia	A kind of hemolytic anemia that is induced by the ingestion of fava beans.	3
Favorable response of weakness to acetylcholine esterase inhibitors	Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.	5
Febrile seizure (within the age range of 3 months to 6 years)	A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.	145
Female external genitalia in individual with 46,XY karyotype	The presence of female external genitalia in a person with a male karyotype.	17
Female hypogonadism	Decreased functionality of the female gonads, i.e., of the ovary.	28
Female pseudohermaphroditism	Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized.	7
Female reproductive system neoplasm	A neoplasm that affects the female reproductive system.	72
Female sexual dysfunction	A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity	67
Femoral bowing	Bowing (abnormal curvature) of the femur.	50
Femoral hernia	A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal.	20
Femoral retroversion	An abnormal backward rotation of the hip relative to the knee such that the hips are externally rotated with the foot pointed outward instead of straight ahead (out-toeing).	4
Femur fracture	A break or crush injury of the thigh bone (femur).	5
Fetal akinesia sequence	Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia).	33
Fetal ascites	Accumulation of fluid in the peritoneal cavity during the fetal period.	8
Fetal distress	An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile.	64
Fetal megacystis	Fetal megacystis is an abnormally enlarged bladder identified at any gestational age.	4
Fetal neck anomaly	A structural anomaly in the fetal neck region. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.	110
Fetal onset	Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks).	194
Fetal pericardial effusion	An abnormal accumulation of fluid in which the heart is partially or completely surrounded by fluid that is seen in all views and the thickness of the fluid as observed by prenatal ultrasound is above age-dependent norms.	6
Fetal pleural effusion	Fetal pleural effusion is the accumulation of excess fluid in the layers of tissue (pleura) lining the lungs and wall of the chest. It may be primary, also termed hydrothorax, occurring as an isolated finding or it may be secondary, most commonly resulting from non-immune hydrops.	5
Fetal polyuria	Abnormally increased production of urine by the fetus resulting in polyhydramnios.	12
Fetal pyelectasis	Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement.	11
Fetal ultrasound soft marker	An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders.	123
Few cafe-au-lait spots	The presence of two to five cafe-au-lait macules.	6
Fiber type grouping	An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type.	13
Fibroadenoma of the breast	A benign biphasic tumor of the breast with epithelial and stromal components.	9
Fibroma	'Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term \''fibroblastic\'' or \''fibromatous\'' is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors.'	72
Fibrosarcoma	A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells.	5
Fibrous tissue neoplasm	Any neoplasm composed of fibrous tissue.	74
Fibular aplasia	Absence of the fibula.	10
Fibular bowing	A bending or abnormal curvature of the fibula.	12
Fibular hypoplasia	Underdevelopment of the fibula.	25
Fibular overgrowth	Relatively increased growth of the fibula compared to that of the tibia.	3
Fifth finger distal phalanx clinodactyly	Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger).	27
Fine hair	Hair that is fine or thin to the touch.	80
Finger agnosia	The examiner identified the inability to name, move, or touch specific fingers.	7
Finger aplasia	A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers).	86
Finger joint contracture	Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of a finger joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.	244
Finger swelling	Enlargement of the soft tissues of one or more fingers.	6
Finger symphalangism	'An abnormal union between bones or parts of bones of the fingers. The synonymous term \''symphalangism of the hand\'' may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as \''Symphalangism\'' the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as \''bony\'' Syndactyly.'	15
Finger syndactyly	'Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as \''bony\'' Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \''Symphalangism\''.'	204
Fingernail dysplasia	An abnormality of the development of the fingernails.	16
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern.	6
First degree atrioventricular block	Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles.	44
Flank pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank.	14
Flared iliac wing	Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing.	22
Flared lower limb metaphysis	The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg.	5
Flared metaphysis	The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.	51
Flaring of rib cage	The presence of wide, concave anterior rib ends.	8
Flat acetabular roof	Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.	27
Flat capital femoral epiphysis	An abnormal flattening of the proximal epiphysis of the femur.	12
Flat cornea	Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age.	22
Flat face	Absence of concavity or convexity of the face when viewed in profile.	106
Flat forehead	A forehead with abnormal flatness.	17
Flat nasal alae	An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae).	8
Flat occiput	Reduced convexity of the occiput (posterior part of skull).	60
Flattened epiphysis	Abnormal flatness (decreased height) of epiphyses.	24
Flattened femoral epiphysis	An abnormal flattening of an epiphysis of femur.	13
Flattened femoral head	An abnormally flattened femoral head.	7
Flexion contracture of finger	Chronic loss of joint motion in a finger due to structural changes in non-bony tissue.	241
Flexion contracture of the 2nd finger	Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected.	5
Flexion contracture of toe	One or more bent (flexed) toe joints that cannot be straightened actively or passively.	32
Fluctuations in consciousness	Changes in one's level of awareness and responsiveness to their environment.	20
Flushing	Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin.	47
Foam cells	The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance.	15
Foamy urine	Urine has an increased amount of frothy fine bubbles.	31
Focal EEG discharges with secondary generalization	Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp.	4
Focal T2 hyperintense basal ganglia lesion	A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia.	25
Focal T2 hyperintense brainstem lesion	A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem.	34
Focal T2 hyperintense thalamic lesion	A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus.	4
Focal T2 hypointense brainstem lesion	A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem.	4
Focal T2 hypointense thalamic lesion	A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus.	11
Focal automatism seizure	A focal seizure characterized at onset by coordinated motor activity. This often resembles a voluntary movement and may consist of an inappropriate continuation of preictal motor activity.	12
Focal autonomic seizure	An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature.	11
Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena	A type of focal autonomic seizure characterized by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature.	4
Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole	A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature.	4
Focal aware motor seizure	A type of focal motor seizure in which awareness is retained throughout the seizure.	3
Focal aware non-motor seizure	A focal non-motor seizure in which awareness is retained throughout the seizure.	4
Focal aware seizure	A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile.	28
Focal aware sensory seizure	A focal sensory seizure during which awareness is retained throughout the seizure.	4
Focal aware sensory seizure with auditory features	A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure.	4
Focal clonic seizure	A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.	42
Focal cognitive seizure	A focal cognitive seizure involves an alteration in a cognitive function (which can be a deficit or a positive phenomenon such as forced thought), which occurs at seizure onset. To be classified as a focal cognitive seizure, the change in cognitive function should be specific and out of proportion to other relatively unimpaired aspects of cognition, because all cognition is impaired in a focal impaired awareness seizure.	7
Focal cognitive seizure with deja vu/jamais vu	A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation.	7
Focal cortical dysplasia	A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons.	15
Focal cortical dysplasia type II	A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities.	5
Focal dystonia	A type of dystonia that is localized to a specific part of the body.	134
Focal emotional seizure	Seizures presenting with an emotion or the appearance of having an emotion as an early prominent feature, such as fear, spontaneous joy or euphoria, laughing (gelastic), or crying, (dacrystic). These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer.	18
Focal emotional seizure with laughing	Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless'.	17
Focal head nodding automatism seizure	A type of focal automatism seizure characterized by involuntary head nodding at onset.	5
Focal hemiclonic seizure	A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset.	25
Focal hemifacial clonic seizure	Focal seizure characterized at onset by clonic movements affecting half of the face.	4
Focal hyperkinetic seizure	A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements.	7
Focal impaired awareness autonomic seizure	A focal autonomic seizure characterized by impaired awareness at some point within the seizure.	3
Focal impaired awareness motor seizure	A type of focal motor seizure in which awareness is partially or fully impaired at some point during the seizure.	3
Focal impaired awareness non-motor seizure	A focal non-motor seizure characterized by impaired awareness at some point during the seizure.	3
Focal impaired awareness seizure	Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.	126
Focal manual automatism seizure	A type of focal automatism seizure characterized by manual automatisms at onset.	4
Focal motor seizure	A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation.	100
Focal motor status epilepticus	Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.	17
Focal myoclonic seizure	A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.	20
Focal non-motor seizure	A type of focal-onset seizure characterized by non-motor signs or symptoms (or behavior arrest) as its initial semiological manifestation.	40
Focal pedal automatism seizure	A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.	4
Focal polymicrogyria	Polymicrogyria affecting one or multiple small areas of the cerebral cortex.	4
Focal segmental glomerulosclerosis	Segmental accumulation of scar tissue in individual (but not all) glomeruli.	73
Focal seizure with eyelid myoclonia	Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures.	3
Focal sensory seizure	A focal sensory seizure is a type seizure beginning with a subjective sensation.	17
Focal sensory seizure with auditory features	A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation.	4
Focal sensory seizure with cephalic sensation	A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation.	4
Focal sensory seizure with olfactory features	Seizures characterized by olfactory phenomena as its first clinical manifestation.	3
Focal sensory seizure with vestibular features	A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation as its first clinical manifestation.	3
Focal sensory seizure with visual features	A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation.	6
Focal tonic seizure	A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes.	23
Follicular hyperkeratosis	A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.	30
Follicular hyperplasia	Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers.	15
Follicular thyroid carcinoma	The presence of an follicular adenocarcinoma of the thyroid gland.	17
Folliculitis	Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule.	9
Food allergy	Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods.	19
Food intolerance	A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction.	9
Foot dorsiflexor weakness	Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.	142
Foot joint contracture	Contractures of one or more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue.	149
Foot oligodactyly	A developmental defect resulting in the presence of fewer than the normal number of toes.	11
Foot osteomyelitis	An infection of bone of the foot.	3
Foot pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot.	4
Foot polydactyly	A kind of polydactyly characterized by the presence of a supernumerary toe or toes.	133
Forearm undergrowth	Forearm shortening because of underdevelopment of one or more bones of the forearm.	75
Fourth cranial nerve palsy	Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly.	4
Foveal hyperpigmentation	Increased amount of pigmentation in the fovea centralis.	4
Foveal hypopigmentation	Decreased amount of pigmentation in the fovea centralis.	4
Fragile nails	Nails that easily break.	30
Fragile skin	Skin that splits easily with minimal injury.	37
Fragmentation of the metacarpal epiphyses	Fragmented appearance of the epiphyses of the metacarpals.	3
Fragmented elastic fibers in the dermis	Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers.	9
Fragmented epiphyses	Fragmented appearance of the epiphyses.	5
Freckling	The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.	48
Freezing of gait	Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk.	4
Frequent temper tantrums	Temper tantrums that occur more frequently compared to the temper tantrums that are a part of the normal developmental process.	9
Frog-leg posture	A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog.	3
Froment sign	An abnormal result of a physical examination of the the hand that tests for palsy of the ulnar nerve. This nerve innervates the adductor pollicis and interossei muscles and thereby enables adduction of the thumb and extension of the interphalangeal joint. An abnormal result consists in reduced functionality and muscular weakness in the pinch grip between the thumb and index finger of the affected hand as the patient attempts to pinch a piece of paper that the examiner tries to pull away. The flexor pollicis longus muscle tries to compensate for the weakness by flexing the tip of the thumb at the interphalangeal joint.	3
Frontal balding	Absence of hair in the anterior midline and/or parietal areas.	16
Frontal cortical atrophy	Atrophy of the frontal cortex.	12
Frontal hirsutism	Excessive amount of hair growth on forehead.	10
Frontal polymicrogyria	A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum.	7
Frontal release signs	Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes.	4
Frontal upsweep of hair	Upward and/or sideward growth of anterior hair.	31
Frontalis muscle weakness	Reduced strength of the frontalis muscle (which is located on the forehead).	10
Frontoethmoidal encephalocele	A type of anterior encephalocele in which there is a protrusion of the contents of the skull through a breach at the point where the frontal and ethmoidal bones meet. Frontoethmoidal encephalocele can be divided further into three distinct categories: nasofrontal, nasoethmoidal, and nasoorbital.	16
Frontotemporal cerebral atrophy	Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum.	15
Frontotemporal dementia	A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders.	52
Full cheeks	Increased prominence or roundness of soft tissues between zygomata and mandible.	150
Full-thickness macular hole	Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction.	3
Fulminant hepatic failure	Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver.	7
Fulminant hepatitis	Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice.	4
Functional abnormality of male internal genitalia	No definition available	286
Fundus hemorrhage	Bleeding within the fundus of the eye.	30
Furrowed tongue	Accentuation of the grooves on the dorsal surface of the tongue.	43
Fused cervical vertebrae	A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another.	35
Fused labia majora	The outer labia are sealed together.	3
Fused labia minora	Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction.	4
Fused teeth	The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch.	4
Fusion of middle ear ossicles	Bony fusion of malleus, incus, and stapes.	3
Fusion of the left and right thalami	A developmental defect characterized by fusion of the left and right halves of the thalamus.	3
Gait apraxia	Gait apraxia affecting the ability to make walking movements with the legs.	4
Gait ataxia	A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.	261
Galactorrhea	Spontaneous flow of milk from the breast, unassociated with childbirth or nursing.	10
Galactosuria	Elevated concentration of galactose in the urine.	4
Ganglioneuroma	A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells.	10
Ganglioside accumulation	Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease).	3
Gangrene	A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis).	56
Gastric ulcer	An ulcer, that is, an erosion of an area of the gastric mucous membrane.	5
Gastric varix	Extreme dilation of the submucusoal veins in the stomach.	3
Gastritis	The presence of inflammation of the gastric mucous membrane.	20
Gastrointestinal angiodysplasia	Dysplasia affecting the vasculature of the gastrointestinal tract.	3
Gastrointestinal arteriovenous malformation	An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract.	5
Gastrointestinal desmoid tumor	Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine.	7
Gastrointestinal dysmotility	Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.	115
Gastrointestinal eosinophilia	Eosinophilic infiltration of one or more gastrointestinal organs. Gastrointestinal eosinophilia is a broad term for abnormal eosinophil accumulation in the GI tract, involving many different disease identities. These diseases include primary eosinophil associated gastrointestinal diseases, gastrointestinal eosinophilia in HES and all gastrointestinal eosinophilic states associated with known causes. Each of these diseases has its unique features but there is no absolute boundary between them.	14
Gastrointestinal hemorrhage	Hemorrhage affecting the gastrointestinal tract.	164
Gastrointestinal inflammation	Inflammation of the alimentary part of the gastrointestinal system.	161
Gastrointestinal telangiectasia	Telangiectasia affecting the gastrointestinal tract.	3
Gastrointestinal ulcer	A deep defect in the esophageal, gastric, duodenal or intestinal wall involving the entire mucosal thickness and penetrating through the muscularis mucosae.	51
Gastrojejunal tube feeding in infancy	Feeding problem necessitating gastrojejunal tube feeding.	3
Gastroparesis	Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction.	34
Gastroschisis	A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus.	3
Gastrostomy tube feeding in infancy	Feeding problem necessitating gastrostomy tube feeding.	101
Gaze-evoked horizontal nystagmus	Horizontal nystagmus made apparent by looking to the right or to the left.	18
Gaze-evoked nystagmus	Nystagmus made apparent by looking to the right or to the left.	55
Generalized aminoaciduria	An increased concentration of all types of amino acid in the urine.	14
Generalized amyloid deposition	A diffuse form of amyloidosis.	6
Generalized amyotrophy	Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.	85
Generalized arterial tortuosity	Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries.	3
Generalized cerebral atrophy/hypoplasia	Generalized atrophy or hypoplasia of the cerebrum.	13
Generalized clonic seizure	Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups.	34
Generalized dystonia	A type of dystonia that affects all or most of the body.	33
Generalized edema	Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.	26
Generalized hirsutism	Abnormally increased hair growth over much of the entire body.	88
Generalized hypertrichosis	Generalized excessive, abnormal hairiness.	7
Generalized hypopigmentation of hair	Reduced pigmentation of hair diffusely.	48
Generalized hypotrichosis	Reduced or lacking hair growth in a generalized distribution.	4
Generalized joint hypermobility	Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. In individuals with Joint hypermobility at multiple sites (usually five or more), the term generalized joint hypermobility is preferred.	48
Generalized limb muscle atrophy	Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations.	20
Generalized lipodystrophy	Generalized degenerative changes of the fat tissue.	8
Generalized lymphadenopathy	A generalized form of lymphadenopathy.	10
Generalized muscle hypertrophy	Hypertrophy (increase in size) of muscle tissue in a generalized (not localized) distribution.	3
Generalized muscle weakness	Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.	134
Generalized myoclonic seizure	A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.	142
Generalized myoclonic-atonic seizure	A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component.	11
Generalized neonatal hypotonia	Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature.	23
Generalized non-convulsive status epilepticus without coma	Generalized non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically generalized. It is a prolonged absence seizure.	18
Generalized non-motor (absence) seizure	A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.	169
Generalized osteosclerosis	An abnormal increase of bone mineral density with generalized involvement of the skeleton.	9
Generalized tonic seizure	A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.	64
Generalized weakness of limb muscles	Generalized weakness of the muscles of the arms and legs.	5
Generalized-onset motor seizure	A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.	200
Genetic anticipation	A type of autosomal dominant inheritance involving a gene that exhibits anticipation, the increase in severity and/or an earlier age of onset in subsequent generations.	9
Genital blistering	The presence of one or more bullae on the skin of the genital region, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.	4
Genital edema	A buildup of fluid that causes swelling in the soft tissues of the genital area.	3
Genital neoplasm	A tumor (abnormal growth of tissue) of the genital system.	146
Genital tract atresia	Congenital occlusion of a tube in the genital tract.	18
Genu recurvatum	An abnormally increased extension of the knee joint, so that the knee can bend backwards.	34
Genu valgum	The legs angle inward, such that the knees are close together and the ankles far apart.	163
Genu varum	A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.	61
Geographic atrophy	Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium.	7
Germinoma	A type of undifferentiated germ cell tumor that may be benign or malignant.	7
Giant cell hepatitis	Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver.	5
Giant melanosomes in melanocytes	The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes.	4
Giant platelets	Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998).	10
Giant somatosensory evoked potentials	An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials.	6
Gingival bleeding	Hemorrhage affecting the gingiva.	59
Gingival cleft	A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla.	3
Gingival fibromatosis	The presence of fibrosis of the gingiva.	21
Gingival overgrowth	Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.	126
Gingival recession	The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth.	7
Gingivitis	Inflammation of the gingiva.	34
Glabellar reflex	A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign.	3
Glenoid fossa hypoplasia	Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus.	3
Glial remnants anterior to the optic disc	Persistence of a posterior remnant of the hyaloid artery located at the optic disc.	3
Glioblastoma multiforme	A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation.	24
Glioma	The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes).	47
Gliosis	Gliosis is the focal proliferation of glial cells in the central nervous system.	99
Global brain atrophy	Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.	70
Global glomerulosclerosis	Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%.	3
Globozoospermia	Any structural anomaly of the acrosome resulting in a round sperm head.	8
Globus pallidus hypointensity on susceptibility-weighted imaging	Hypointence (dark) appearance of the globus pallidus inmagnetic resonance imaging using susceptibility weighted imaging (SWI).	4
Glomerular basement membrane lamellation	Presence of abnormal additional layers of the basement membrane of the glomerulus.	3
Glomerular deposits	An abnormal accumulation of protein in the glomerulus.	20
Glomerular sclerosis	Accumulation of scar tissue within the glomerulus.	104
Glomerular subepithelial deposits	Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate).	14
Glomerulonephritis	Inflammation of the renal glomeruli.	108
Glomerulopathy	Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron.	41
Glossitis	Inflammation of the tongue.	12
Glossoptosis	Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.	32
Glucagonoma	An endocrine tumor of the pancreas that secretes excessive amounts of glucagon.	6
Glucocortocoid-insensitive primary hyperaldosteronism	A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids.	5
Glue ear	Middle ear is filled with glue-like fluid instead of air.	3
Glutaric aciduria	The concentration of glutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.	7
Glycopeptiduria	Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues.	4
Glycosuria	An increased concentration of glucose in the urine.	45
Goiter	An enlargement of the thyroid gland.	62
Gonadal dysgenesis with female appearance, male	Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation.	4
Gonadal neoplasm	A tumor (abnormal growth of tissue) of a gonad.	98
Gonadoblastoma	The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.	17
Gonadotropin deficiency	A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH).	8
Gout	Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.	19
Gowers sign	A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.	77
Granular macular appearance	Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea.	9
Granulocytopenia	An abnormally reduced number of granulocytes in the blood.	7
Granuloma	A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis.	8
Granulomatosis	A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity.	10
Grasp reflex	A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power .	3
Graves disease	An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients.	5
Gray matter heterotopia	Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.	127
Ground-glass opacification	On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured.	25
Gustatory lacrimation	Gustatory lacrimation results from an aberrant innervation of fibers from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal.	6
Gynecomastia	Abnormal development of large mammary glands in males resulting in breast enlargement.	104
Hair follicle neoplasm	An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth.	5
Hair-pulling	A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss.	6
Halitosis	Noticeably unpleasant odors exhaled in breathing.	6
Hallucinations	Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space.	158
Hallux valgus	Lateral deviation of the great toe (i.e., in the direction of the little toe).	79
Hallux varus	Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially.	5
Hamartoma	A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma.	65
Hamartoma of the eye	A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye.	30
Hamartoma of the orbital region	A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region.	30
Hamartoma of tongue	A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue.	23
Hamartomatous polyposis	Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture.	15
Hammertoe	Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.	57
Hand apraxia	Inability to perform purposeful (learned) movements with the hand upon command, even though the command is understood and there is a willingness to perform the movement. Hand apraxia includes the inability to grasp, pick up, and hold large and small objects.	6
Hand clenching	An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. In prenatal sonography of the fetal clenched hand, the index finger overlaps a clenched fist formed by the other digits. The proximal interphalangeal articulation of the index finger is flexed and ulnarly deviated, and the thumb is adducted.	33
Hand muscle atrophy	Muscular atrophy involving the muscles of the hand.	54
Hand muscle weakness	Reduced strength of the musculature of the hand.	49
Hand paresthesia	Tingling (often referred to as a pins and needles feeling) and numbness in the hand.	3
Hand polydactyly	A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.	178
Hand tremor	An unintentional, oscillating to-and-fro muscle movement affecting the hand.	44
Handgrip myotonia	Difficulty releasing one's grip associated with prolonged first handgrip relaxation times.	6
Happy demeanor	A conspicuously happy disposition, characterized by frequent smiling and laughing, which may be contextually inappropriate or unrelated to the situation.	26
Hashimoto thyroiditis	A chronic, autoimmune type of thyroiditis associated with hypothyroidism.	18
HbH hemoglobin	Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia.	4
HbS hemoglobin	Presence of an abnormal type of hemoglobin characterized by the substitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography.	5
Head titubation	A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction.	25
Head tremor	An unintentional, oscillating to-and-fro muscle movement affecting head movement.	46
Head-banging	Habitual striking of one's own head against a surface such as a mattress or wall of a crib.	11
Heart block	Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway.	136
Heart murmur	An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart.	39
Heat intolerance	The inability to maintain a comfortable body temperature in warm or hot weather.	25
Heinz bodies	A type of erythrocyte inclusion composed of denatured hemoglobin.	6
Heinz body anemia	Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells.	3
Helicobacter pylori infection	A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach.	5
Hemangioblastoma	A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter.	18
Hemangioma	A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).	149
Hematemesis	The vomiting of blood.	21
Hematochezia	The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.	21
Hematological neoplasm	Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue).	298
Hematuria	The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).	187
Hemeralopia	A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness.	9
Hemianopia	Partial or complete loss of vision in one half of the visual field of one or both eyes.	58
Hemiatrophy	Undergrowth of the limbs that affects only one side.	6
Hemiballismus	Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements.	4
Hemidystonia	Hemidystonia refers to dystonia which involves the ipsilateral face, arm, and leg.	4
Hemifacial hypoplasia	Unilateral underdevelopment of the facial tissues, including muscles and bones.	4
Hemifacial spasm	Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions.	12
Hemihypertrophy	Overgrowth of only one side of the body.	24
Hemihypotrophy of lower limb	Shortening of a leg affecting only one side.	4
Hemihypsarrhythmia	Hypsarrhythmia occurring in one hemisphere.	3
Hemimegalencephaly	Enlargement of all or parts of one cerebral hemisphere.	14
Hemiparesis	Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.	107
Hemiplegia	Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body.	39
Hemiplegia/hemiparesis	Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.	239
Hemivertebrae	Absence of one half of the vertebral body.	61
Hemoglobinuria	The presence of free hemoglobin in the urine.	12
Hemolytic anemia	A type of anemia caused by premature destruction of red blood cells (hemolysis).	167
Hemolytic-uremic syndrome	A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease.	17
Hemophagocytosis	Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues.	22
Hemoptysis	Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.	87
Hemorrhage of the eye	Bleeding from vessels of the various tissues of the eye.	53
Hemothorax	The presence of blood in the pleural space.	6
Heparan sulfate excretion in urine	An increased concentration of heparan sulfates in the urine.	9
Hepatic amyloidosis	A form of amyloidosis that affects the liver.	3
Hepatic bridging fibrosis	Hepatic fibrosis that reaches from a portal area to another portal area.	10
Hepatic calcification	The presence of abnormal calcium deposition in the liver.	5
Hepatic encephalopathy	Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes.	24
Hepatic fibrosis	The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.	146
Hepatic hemangioma	A congenital vascular malformation in the liver composed of masses of blood vessels that are atypical or irregular in arrangement and size.	4
Hepatic necrosis	The presence of cell death (necrosis) affecting the liver.	14
Hepatic periportal necrosis	A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein.	3
Hepatic steatosis	Steatosis is a term used to denote lipid accumulation within hepatocytes.	179
Hepatic vein thrombosis	An obstruction in the veins of the liver caused by a blood clot (thrombosis).	10
Hepatitis	Inflammation of the liver.	91
Hepatoblastoma	A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts.	25
Hepatocellular adenoma	A benign tumor of the liver of presumably epithelial origin.	18
Hepatocellular carcinoma	A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver.	73
Hepatosplenomegaly	Simultaneous enlargement of the liver and spleen.	165
Herpes simplex encephalitis	Infection of the brain parenchyma with herpes simplex virus, resulting in inflammation of the brain parenchyma with neurologic dysfunction.	10
Heterochromia iridis	Heterochromia iridis is a difference in the color of the iris in the two eyes.	24
Heterophoria	Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs.	11
Heterotaxy	An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body.	27
Heterotropia	Manifest deviation of the visual axes not controlled by fusion.	278
Hiatus hernia	The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus.	38
High anterior hairline	Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella.	76
High hypermetropia	A severe form of hypermetropia with over +5.00 diopters.	82
High iliac wing	Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).	3
High myopia	A severe form of myopia with greater than -6.00 diopters.	94
High serum calcitriol	An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.	6
High, narrow palate	The presence of a high and narrow palate.	155
High-frequency hearing impairment	A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz).	8
High-frequency sensorineural hearing impairment	A form of sensorineural hearing impairment that affects primarily the higher frequencies.	6
High-output congestive heart failure	A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others.	6
High-pitched cry	A type of crying in an abnormally high-pitched voice.	7
Highly arched eyebrow	Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.	204
Highly elevated creatine kinase	An increased CPK level between 4X and 50X above the upper normal level.	11
Hip contracture	Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.	61
Hip dislocation	Displacement of the femur from its normal location in the hip joint.	260
Hip dysplasia	The presence of developmental dysplasia of the hip.	244
Hip flexor weakness	Reduced ability to flex the femur, that is, to pull the knee upward.	15
Hip pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip.	12
Hip subluxation	A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket.	25
Hippocampal atrophy	Partial or complete wasting (loss) of hippocampus tissue that was once present.	8
Hippocampal malrotation	Hippocampal malrotation, also termed incomplete inversion of the hippocampus or hippocampal malformation, is an increasingly recognized neuroimaging finding of undetermined clinical significance. It is characterized by features including (i) Round or pyramidal shape instead of ovoid shape; (ii) Medial position of the hippocampus on the hippocampal sulcus; (iii) The collateral sulcus is excessively deep or verticalized; (iv) Fimbria located medial to the hippocampus; (v) Small or displaced fornix; (vi) Enlarged temporal horn and empty choroid fissure; (vii) Thickened subiculum; (viii) Reduced upper horizontal portion of the parahippocampal gyrus.	3
Hirsutism	Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).	215
Histiocytoid cardiomyopathy	A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells.	3
Histiocytosis	An excessive number of histiocytes (tissue macrophages).	6
Histoplasmosis	Histoplasmosis is caused by the fungus Histoplasma capsulatum and is consider to be an opportunistic infection in immunosuppressed persons.	3
Hitchhiker thumb	With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand.	8
Hoarse voice	Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.	112
Hodgkin lymphoma	A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells.	25
Hoffmann sign	A Hoffmann test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test.	46
Holoprosencephaly	Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles.	79
Homocystinuria	An increased concentration of homocystine in the urine.	11
Honeycomb lung	Honeycombing represents destroyed and fibrotic lung tissue containing numerous cystic airspaces with thick fibrous walls, representing the late stage of various lung diseases, with complete loss of acinar architecture. The cysts range in size from a few millimeters to several centimeters in diameter, have variable wall thickness, and are lined by metaplastic bronchiolar epithelium. On chest radiographs, honeycombing appears as closely approximated ring shadows, typically 3-10 mm in diameter with walls 1-3 mm in thickness, that resemble a honeycomb; the finding implies end-stage lung disease. On CT scans, the appearance is of clustered cystic air spaces, typically of comparable diameters on the order of 3-10 mm but occasionally as large as 2.5 cm. Honeycombing is usually subpleural and is characterized by well-defined walls. It is a CT feature of established pulmonary fibrosis. Because honeycombing is often considered specific for pulmonary fibrosis and is an important criterion in the diagnosis of usual interstitial pneumonia, the term should be used with care, as it may directly impact patient care.	14
Honeycomb palmoplantar hyperkeratosis	Abnormal thickening of the skin on the palms and soles with an honeycomb pattern.	3
Hooded eyelid	Eyelid partly covered by skin when eyes are open.	6
Horizontal eyebrow	An eyebrow that extends straight across the brow, without curve.	34
Horizontal inferior border of scapula	A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape).	3
Horizontal jerk nystagmus	Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other.	3
Horizontal nystagmus	Nystagmus consisting of horizontal to-and-fro eye movements.	114
Horizontal pendular nystagmus	Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity.	8
Horizontal ribs	A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12.	16
Horizontal supranuclear gaze palsy	A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.	3
Horner syndrome	An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection.	8
Horseshoe kidney	A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.	148
Howell-Jolly bodies	Howell-Jolly bodies are small, intra-erythrocytic remnants of erythrocyte nuclei. These inclusions are solitary in each erythrocyte and strongly basophilic. These are often confused with overlying platelets, but can be distinguished by the presence of a halo around overlying platelets.	4
Humeroradial synostosis	An abnormal osseous union (fusion) between the radius and the humerus.	11
Humoral immunodeficiency	A general term referring to a defect in immunity resulting from impaired antibody production.	3
Hurthle cell thyroid adenoma	A kind of thyroid adenoma characterized by the presence of oxyphil cells.	3
Hyaloid vascular remnant and retrolental mass	A type of persistence of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract.	3
Hydatidiform mole	Hydatidiform mole (HM) is an aberrant human pregnancy with absence of, or abnormal embryonic development, hydropic degeneration of chorionic villi, and excessive proliferation of the trophoblast.	3
Hydranencephaly	A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue.	9
Hydrocele testis	Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.	36
Hydrometrocolpos	Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina.	28
Hydromyelia	Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo.	3
Hydronephrosis	Severe distention of the kidney with dilation of the renal pelvis and calices.	262
Hydrops fetalis	The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.	125
Hydroureter	The distention of the ureter with urine.	77
Hydroxyprolinemia	An increased concentration of hydroxyproline in the blood.	5
Hydroxyprolinuria	An increased concentration of 4-hydroxy-L-proline in the urine.	9
Hyperactive bowel sounds	Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines.	3
Hyperactive renin-angiotensin system	An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms.	8
Hyperacusis	Over-sensitivity to certain frequency ranges of sound.	28
Hyperalaninemia	An increased concentration of alanine in the blood.	67
Hyperammonemia	An increased concentration of ammonia in the blood.	79
Hyperautofluorescent macular lesion	Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.	12
Hyperautofluorescent retinal lesion	Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.	16
Hyperbilirubinemia	An increased amount of bilirubin in the blood.	129
Hypercalcemia	An abnormally increased calcium concentration in the blood.	80
Hypercapnia	Abnormally elevated blood carbon dioxide (CO2) level.	14
Hyperchloremia	An abnormally increased chloride concentration in the blood.	4
Hyperchloremic acidosis	Acidosis (pH less than 7.35) that develops with an increase in ionic chloride.	13
Hyperchloremic metabolic acidosis	A form of metabolic acidosis with increased serum chloride levels.	12
Hyperchloriduria	An increased concentration of chloride in the urine.	5
Hypercholesterolemia	An increased concentration of cholesterol in the blood.	83
Hypercoagulability	An abnormality of coagulation associated with an increased risk of thrombosis.	17
Hyperconvex fingernails	When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity.	9
Hyperconvex nail	When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity.	22
Hyperdeviation	A type of strabismus in which the visual axis of one eye is higher than that of the other.	4
Hyperechogenic kidneys	An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal.	34
Hypereosinophilia	A severely increased count of eosinophils in the blood defined as a blood eosinophil count of at least 1.5 billion cells per liter.	6
Hyperesthesia	Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain.	9
Hyperextensibility at elbow	The ability of the elbow joint to move beyond its normal range of motion.	6
Hyperextensibility of the finger joints	The ability of the finger joints to move beyond their normal range of motion.	24
Hyperextensibility of the knee	The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh).	40
Hyperextensible hand joints	The ability of the joints of the hand to move beyond their normal range of motion.	4
Hyperextensible skin	A condition in which the skin can be stretched beyond normal, and then returns to its initial position.	67
Hyperfibrinogenemia	Increased concentration of fibrinogen in the blood.	6
Hypergalactosemia	Elevated concentration of galactose in the blood.	6
Hypergastrinemia	An elevated amount of gastrin in the blood.	6
Hyperglutamatemia	Concentration of glutamate in the blood circulation above the upper limit of normal.	3
Hyperglutaminemia	An increased concentration of glutamine in the blood.	9
Hyperglycemia	An increased concentration of glucose in the blood.	85
Hyperglycinemia	An elevated concentration of glycine in the blood.	28
Hyperglycinuria	An increased concentration of glycine in the urine.	14
Hypergonadotropic hypogonadism	Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.	63
Hypergranulosis	Hypergranulosis is an increased thickness of the stratum granulosum.	22
Hyperhidrosis	Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.	153
Hyperhomocystinemia	An increased concentration of homocystine in the blood.	16
Hyperinsulinemia	An increased concentration of insulin in the blood.	148
Hyperinsulinemic hypoglycemia	An increased concentration of insulin combined with a decreased concentration of glucose in the blood.	27
Hyperintensity of cerebral white matter on MRI	A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter.	74
Hyperisoleucinemia	An increased concentration of isoleucine in the blood.	5
Hyperkalemia	An abnormally increased potassium concentration in the blood.	40
Hyperkeratosis	Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.	231
Hyperkeratotic papule	A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically).	13
Hyperketonemia	An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood.	5
Hyperkinetic movements	Motor hyperactivity with excessive movement of muscles of the body as a whole.	40
Hyperleucinemia	An increased concentration of leucine in the blood.	5
Hyperlipidemia	An elevated lipid concentration in the blood.	162
Hyperlipoproteinemia	An abnormal increase in the level of lipoprotein cholesterol in the blood.	40
Hyperlordosis	Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.	222
Hyperlysinemia	An increased concentration of lysine in the blood.	4
Hyperlysinuria	An increased concentration of lysine in the urine.	5
Hypermagnesemia	An abnormally increased magnesium concentration in the blood.	7
Hypermagnesiuria	An increased concentration of magnesium the urine.	4
Hypermelanotic macule	A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.	198
Hypermethioninemia	An increased concentration of methionine in the blood.	8
Hypermetric saccades	A saccade that overshoots the target with the dynamic saccade.	12
Hypermetropia	An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.	285
Hypermobility of interphalangeal joints	The ability of the interphalangeal joints to move beyond their normal range of motion.	5
Hypernasal speech	A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.	111
Hypernatremia	An abnormally increased sodium concentration in the blood.	10
Hypernatriuria	An increased concentration of sodium(1+) in the urine.	10
Hyperopic astigmatism	A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error.	5
Hyperorality	Hyperorality is a condition characterized by an excessive preoccupation with oral sensations and behaviors, such as chewing, sucking, biting, swallowing, and excessive mouthing of objects.	15
Hyperostosis	Excessive growth or abnormal thickening of bone tissue.	53
Hyperoxaluria	Increased excretion of oxalates in the urine.	6
Hyperparakeratosis	Abnormal keratinization of the epidermal stratum coreum (horny layer) with increased keratin formation, preservation of the nuclei in the superficial cells, and absence of the stratum granulosum.	4
Hyperparathyroidism	Excessive production of parathyroid hormone (PTH) by the parathyroid glands.	31
Hyperphenylalaninemia	An increased concentration of L-phenylalanine in the blood.	6
Hyperphosphatemia	An abnormally increased phosphate concentration in the blood.	21
Hyperphosphaturia	An increased excretion of phosphates in the urine.	28
Hyperpigmentation of the fundus	Increased pigmentation of the fundus	7
Hyperpigmented papule	A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin.	7
Hyperpituitarism	Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma.	128
Hyperplasia of midface	Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face	5
Hyperplasia of the maxilla	Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla.	11
Hyperplastic callus formation	Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing.	5
Hyperpolarized transepithelial nasal potential difference	Increased (more negative) voltage across the nasal epithelium.	4
Hyperprolinemia	An increased concentration of proline in the blood.	18
Hyperprostaglandinuria	An increased concentration of prostaglandin in the urine.	6
Hyperpyrexia	An extreme elevation of core body temperature above normal defined as a rectal temperature of 41.1 degrees Celsius (106 degrees Fahrenheit).	3
Hypersegmentation of neutrophil nuclei	An excessive division of the lobes of the nucleus of a neutrophil.	6
Hypersomnia	Excessive sleepiness or feeling of sleepiness, or difficulty staying awake despite having had adequate sleep, which persists over several days.	17
Hypersplenism	A malfunctioning of the spleen in which it prematurely destroys red blood cells.	19
Hypertension associated with pheochromocytoma	A type of hypertension associated with pheochromocytoma.	17
Hyperthyroidism	An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).	37
Hypertrichosis	Hypertrichosis is increased hair growth that is abnormal in quantity or location.	294
Hypertriglyceridemia	An abnormal increase in the level of triglycerides in the blood.	131
Hypertrophic cardiomyopathy	Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.	288
Hypertropia	A type of strabismus characterized by permanent upward deviation of the visual axis of one eye.	4
Hypertyrosinemia	An increased concentration of tyrosine in the blood.	6
Hyperuricemia	An abnormally high level of uric acid in the blood.	27
Hyperuricosuria	An abnormally high level of uric acid in the urine.	10
Hypervalinemia	An increased concentration of valine in the blood.	4
Hyperventilation	Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide.	41
Hyphema	Bleeding in the anterior chamber of the eye.	3
Hypnagogic hallucination	Hypnagogic hallucinations are brief hallucinations that occur as you are falling asleep.	10
Hypnopompic hallucination	Brief hallucinations that occur as you wake up in the morning, in a state that falls somewhere between dreaming and being fully awake.	8
Hypoalbuminemia	Reduction in the concentration of albumin in the blood.	116
Hypoamylasemia	Decreased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.	4
Hypoargininemia	A decreased concentration of arginine in the blood.	8
Hypoautofluorescent macular lesion	Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.	4
Hypoautofluorescent retinal lesion	Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.	8
Hypocalcemia	An abnormally decreased calcium concentration in the blood.	86
Hypocalcemic tetany	Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms.	8
Hypocalciuria	An abnormally decreased calcium concentration in the urine.	11
Hypochloremia	An abnormally decreased chloride concentration in the blood.	7
Hypocholesterolemia	An decreased concentration of cholesterol in the blood.	17
Hypochromia	A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells.	12
Hypochromic anemia	A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes.	61
Hypochromic microcytic anemia	A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.	21
Hypodontia	The absence of five or less teeth from the normal series by a failure to develop.	227
Hypoesthesia	Decreased ability to perceive touch.	25
Hypofibrinogenemia	Decreased concentration of fibrinogen in the blood.	42
Hypogeusia	A decreased ability to perceive flavor.	6
Hypoglycemia	A decreased concentration of glucose in the blood.	263
Hypoglycemic coma	Coma induced by low blood sugar.	20
Hypoglycemic encephalopathy	Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage.	3
Hypoglycorrhachia	Abnormally low glucose concentration in the cerebrospinal fluid.	6
Hypoglycosylation of alpha-dystroglycan	A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue.	11
Hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).	177
Hypohidrosis	Abnormally diminished capacity to sweat.	75
Hypoinsulinemia	A decreased concentration of insulin in the blood.	22
Hypointensity of cerebral white matter on MRI	A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter.	14
Hypokalemia	An abnormally decreased potassium concentration in the blood.	79
Hypoketotic hypoglycemia	A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies.	15
Hypokinesia	Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.	53
Hypolipoproteinemia	An abnormal decrease in the level of lipoprotein cholesterol in the blood.	66
Hypomagnesemia	An abnormally decreased magnesium concentration in the blood.	31
Hypomelanotic macule	'Hypomelanotic macules (\''ash leaf spots\'') are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis.'	8
Hypomethioninemia	A decreased concentration of methionine in the blood.	8
Hypometric saccades	Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.	17
Hypomimic face	A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation.	38
Hyponatremia	An abnormally decreased sodium concentration in the blood.	60
Hypoornithinemia	An abnormal decrease in ornithine in the blood.	3
Hypoparathyroidism	A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.	50
Hypoperistalsis	Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract.	24
Hypophosphatemia	An abnormally decreased phosphate concentration in the blood.	52
Hypopigmentation of the fundus	Reduced pigmentation of the fundus, typically generalized. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid).	25
Hypopigmentation of the skin	A reduction of skin color related to a decrease in melanin production and deposition.	212
Hypopigmented macule	A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation.	26
Hypoplasia of eyelid	Developmental hypoplasia of the eyelid.	3
Hypoplasia of mandible relative to maxilla	Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw).	9
Hypoplasia of proximal radius	Proximal radial shortening owing to a congenital defect of development.	3
Hypoplasia of right ventricle	Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells.	4
Hypoplasia of teeth	Developmental hypoplasia of teeth.	126
Hypoplasia of the abdominal wall musculature	Underdevelopment of the abdominal musculature.	3
Hypoplasia of the bladder	Underdevelopment of the urinary bladder.	8
Hypoplasia of the brainstem	Underdevelopment of the brainstem.	88
Hypoplasia of the capital femoral epiphysis	Underdevelopment of the proximal epiphysis of the femur.	18
Hypoplasia of the cochlea	Developmental hypoplasia of the cochlea.	9
Hypoplasia of the epiglottis	Hypoplasia of the epiglottis.	10
Hypoplasia of the fallopian tube	Developmental hypoplasia of the fallopian tube.	3
Hypoplasia of the femoral head	Underdevelopment of the femoral head.	5
Hypoplasia of the fovea	Underdevelopment of the fovea centralis.	32
Hypoplasia of the frontal bone	Underdevelopment of the frontal bone.	4
Hypoplasia of the frontal lobes	Underdevelopment of the frontal lobe of the cerebrum.	40
Hypoplasia of the iris	Congenital underdevelopment of the iris.	34
Hypoplasia of the lacrimal punctum	Underdevelopment of the lacrimal puncta.	4
Hypoplasia of the maxilla	Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.	130
Hypoplasia of the musculature	Underdevelopment of the musculature.	25
Hypoplasia of the odontoid process	Developmental hypoplasia of the dens of the axis.	27
Hypoplasia of the olfactory bulb	Underdevelopment of the olfactory bulb.	7
Hypoplasia of the ovary	Developmental hypoplasia of the ovary.	92
Hypoplasia of the pons	Underdevelopment of the pons.	89
Hypoplasia of the premaxilla	An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures.	3
Hypoplasia of the primary teeth	Developmental hypoplasia of the primary teeth.	7
Hypoplasia of the radius	Underdevelopment of the radius.	43
Hypoplasia of the semicircular canal	Underdevelopment of the semicircular canal.	4
Hypoplasia of the thymus	Underdevelopment of the thymus.	36
Hypoplasia of the ulna	Underdevelopment of the ulna.	55
Hypoplasia of the uterus	Underdevelopment of the uterus.	52
Hypoplasia of the vagina	Developmental hypoplasia of the vagina.	16
Hypoplasia of the ventral pons	Underdevelopment of the ventral portion of the pons.	6
Hypoplasia of the zygomatic bone	Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch.	42
Hypoplastic acetabulae	Underdeveloped acetabulae.	5
Hypoplastic anemia	Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia.	7
Hypoplastic anterior commissure	Underdevelopment of the anterior commissure.	5
Hypoplastic aortic arch	Underdevelopment of the arch of aorta.	13
Hypoplastic dermoepidermal hemidesmosomes	Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin.	7
Hypoplastic female external genitalia	Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris).	66
Hypoplastic fifth fingernail	A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger.	14
Hypoplastic fifth toenail	Underdeveloped nails of the fifth toes.	16
Hypoplastic fingernail	Underdevelopment of a fingernail.	53
Hypoplastic frontal sinuses	Underdevelopment of frontal sinus.	7
Hypoplastic helices	Underdevelopment of the helix, i.e., of the outer rim of the pinna.	10
Hypoplastic hippocampus	Underdevelopment of the hippocampus.	17
Hypoplastic ilia	Underdevelopment of the ilium.	53
Hypoplastic iliac body	Underdevelopment of the body of ilium.	4
Hypoplastic iliac wing	Underdevelopment of the ilium ala.	30
Hypoplastic iris stroma	Underdevelopment of the stroma of iris.	8
Hypoplastic ischia	Underdevelopment of the ischium, which forms the lower and back part of the hip bone.	16
Hypoplastic labia majora	Undergrowth of the outer labia.	37
Hypoplastic left heart	Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta.	47
Hypoplastic nasal septum	Underdevelopment of the nasal septum.	3
Hypoplastic nipples	Underdevelopment of the nipple.	39
Hypoplastic optic chiasm	Developmental defect characterized by undergrowth of the optic chiasm.	3
Hypoplastic pelvis	Underdevelopment of the bony pelvis.	16
Hypoplastic philtrum	Underdevelopment of the philtrum.	6
Hypoplastic pubic bone	Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone.	20
Hypoplastic pubic ramus	Underdevelopment of a ramus (branch) of the pubic bone.	7
Hypoplastic scapulae	Underdeveloped scapula.	30
Hypoplastic spleen	Underdevelopment of the spleen.	8
Hypoplastic toenails	Underdevelopment of the toenail.	80
Hypopnea	Hypopnea is referring to breathing that is abnormally shallow.	4
Hypoproteinemia	A decreased concentration of protein in the blood.	18
Hyporeflexia of lower limbs	Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.	38
Hyporeflexia of upper limbs	Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.	10
Hyposegmentation of neutrophil nuclei	Hyposegmented (hypolobulated) or bilobed neutrophil nuclei.	6
Hyposerinemia	Reduced concentration of serine in the blood.	3
Hyposmia	A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).	51
Hyposthenuria	An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine.	9
Hypotelorism	Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).	144
Hypotension	Low Blood Pressure, vascular hypotension.	108
Hypothalamic hamartoma	The presence of a hamartoma of the hypothalamus.	17
Hypothalamic hypothyroidism	A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity.	12
Hypothalamic luteinizing hormone-releasing hormone deficiency	Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus.	3
Hypothermia	Reduced body temperature due to failed thermoregulation.	57
Hypotriglyceridemia	An decrease in the level of triglycerides in the blood.	9
Hypouricemia	An abnormally low level of uric acid in the blood.	17
Hypoventilation	A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide).	53
Hypovolemia	An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood.	32
Hypovolemic shock	A state of shock characterized by decreased circulating blood volume in relation to total vascular capacity. This type of shock is characterized by a reduction of diastolic filling pressures.	5
Hypoxemia	An abnormally low level of blood oxygen.	48
Hypsarrhythmia	Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).	184
Ichthyosis	An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.	143
IgA deposition in the glomerulus	The presence of immunoglobulin A deposits in the glomerulus.	5
Ileal atresia	An abnormal closure, or atresia of the tubular structure of the ileum.	5
Ileitis	Inflammation of the ileum.	3
Ileus	Acute obstruction of the intestines preventing passage of the contents of the intestines.	33
Iliac crest serration	Irregularities of the iliac crest that produce the appearance of a lace border around it.	3
Imbalanced hemoglobin synthesis	Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia.	4
Immotile sperm	A lack of mobility of ejaculated sperm.	15
Immune dysregulation	Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications.	11
Immunodeficiency	Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.	218
Immunologic hypersensitivity	Immunological states where the immune system produces harmful responses upon reexposure to sensitizing antigens.	227
Impacted tooth	A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth).	7
Impaired ADP-induced platelet aggregation	Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP.	18
Impaired Ig class switch recombination	An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE.	4
Impaired T cell function	Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.	32
Impaired ability to dress oneself	This applies to an individual who needs help with dressing or needs to be completely dressed.	4
Impaired antigen-specific response	An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).	57
Impaired arachidonic acid-induced platelet aggregation	Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid.	7
Impaired clot retraction	Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration.	3
Impaired collagen-induced platelet aggregation	Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics.	16
Impaired collagen-related peptide-induced platelet aggregation	Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP.	3
Impaired continence	Partial or total incontinence of bowel or bladder.	173
Impaired cortisol response to insulin stimulation test	Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT).	5
Impaired distal proprioception	A loss or impairment of the sensation of the relative position of parts of the body and joint position occurring at distal joints.	17
Impaired distal tactile sensation	A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.	21
Impaired distal vibration sensation	A decrease in the ability to perceive vibration in the distal portions of the limbs.	53
Impaired epinephrine-induced platelet aggregation	Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine.	9
Impaired executive functioning	A disturbance of executive functioning, which is broadly defined as the set of abilities that allow for the planning, executing, monitoring, and self-correcting of goal-directed behavior while inhibiting task-irrelevant behavior. At least some degree of executive skill is needed to complete most cognitive tasks, and deficits in executive abilities are central to many clinical conditions, including fronto-temporal dementia.	10
Impaired fasting glucose	Impaired fasting glucose (IFG) is indicated by a fasting plasma glucose above normal but below the diabetic range. Levels between 110 mg/dl (6.1 mmol/l) to 125 mg/dl (6.9 mmol/l) are diagnostic of IFG.	25
Impaired gluconeogenesis	An impairment of gluconeogenesis.	3
Impaired glucose tolerance	An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose.	37
Impaired growth-hormone response to insulin stimulation test	Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT).	3
Impaired horizontal smooth pursuit	An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects.	7
Impaired lymphocyte transformation with phytohemagglutinin	Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.	14
Impaired mastication	An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing.	51
Impaired neutrophil bactericidal activity	A reduction in the ability of neutrophils to kill bacteria.	11
Impaired neutrophil chemotaxis	An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response	7
Impaired ocular abduction	An impaired ability of the eye to move in the outward direction (towards the side of the head).	6
Impaired ocular adduction	Reduced ability to move the eye in the direction of the nose.	9
Impaired oropharyngeal swallow response	Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars.	13
Impaired oxidative burst	In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria.	8
Impaired pain sensation	Reduced ability to perceive painful stimuli.	82
Impaired platelet aggregation	An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.	39
Impaired proprioception	A loss or impairment of the sensation of the relative position of parts of the body and joint position.	155
Impaired renal concentrating ability	A defect in the ability to concentrate the urine.	7
Impaired renal uric acid clearance	A reduction in the ability of the kidneys to remove uric acid from the serum.	3
Impaired ristocetin-induced platelet aggregation	Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin.	8
Impaired smooth pursuit	An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.	41
Impaired tactile sensation	A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.	36
Impaired tandem gait	Reduced ability to walk in a straight line while placing the feet heel to toe.	11
Impaired temperature sensation	A reduced ability to discriminate between different temperatures.	34
Impaired thrombin-induced platelet aggregation	Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics).	3
Impaired thromboxane A2 agonist-induced platelet aggregation	Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists.	3
Impaired vibration sensation at ankles	A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles.	13
Impaired vibration sensation in the lower limbs	A decrease in the ability to perceive vibration in the legs.	54
Impaired vibratory sensation	A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.	127
Impaired visuospatial constructive cognition	Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities).	36
Impairment in personality functioning	A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning.	233
Impairment of activities of daily living	Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure.	186
Imperforate hymen	A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina.	5
Impotence	Inability to develop or maintain an erection of the penis.	54
Impulsivity	Acting on the spur of the moment or on a momentary basis without consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in behavior that is uninhibited, cannot be inhibited, and is uncontrolled. The possibility of repression is inconceivable.	147
Inappropriate antidiuretic hormone secretion	A state of increased circulating antidiuretic hormone despite hyponatremia and hypo-osmolality with normal or increased plasma volume.	8
Inappropriate behavior	An explicit or perceived action, demonstration, conduct, or language (verbal and written) that is contrary to generally accepted norms, rules, procedures, or unacceptable within the context in which it is carried out. Inappropriate behaviors could take place in a sexual or social context and could be aggressive, violent, impulsive, intimidating, or threatening in nature.	14
Inappropriate crying	Uncontrolled episodes of crying occur without any apparent motivating stimuli.	18
Inappropriate laughter	Laughing that may be excessive and/or inappropriate in context (e.g., laughing at a funeral while others are crying).	33
Inappropriately normal thyroid-stimulating hormone level	A normal or elevated serum thyroid-stimulating hormone (TSH) level in the face of an elevation in circulating FT4 and/or FT3.	3
Incisional hernia	An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound.	4
Incisor macrodontia	Increased size of the incisor tooth.	16
Incomitant strabismus	Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort.	25
Incomplete partition of the cochlea	Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema.	9
Incomplete partition of the cochlea type II	With incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation.	8
Increased B cell count	An abnormal increase from the normal count of B cells.	11
Increased C-peptide level	An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion.	14
Increased CSF glycine concentration	Abnormally increased levels of glycine in cerebrospinal fluid.	7
Increased CSF interferon alpha	Increased concentration of interferon alpha in the cerebrospinal fluid (CSF).	9
Increased CSF lactate	Increased concentration of lactate in the cerebrospinal fluid.	116
Increased CSF protein concentration	Increased concentration of protein in the cerebrospinal fluid.	58
Increased HDL cholesterol concentration	An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood.	3
Increased LDL cholesterol concentration	An elevated concentration of low-density lipoprotein cholesterol in the blood.	33
Increased RBC distribution width	Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage.	4
Increased T cell count	An abnormal increase in the total number of T cells detected in the blood.	6
Increased VLDL cholesterol concentration	An increase in the amount of very-low-density lipoprotein cholesterol in the blood.	4
Increased adipose tissue	An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell).	11
Increased alpha-globulin	An abnormally increased level of circulating alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant.	5
Increased arm span	Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle).	7
Increased aspartate family amino acid level in urine	An elevated level of an aspartate family amino acid in the urine.	7
Increased axial length of the globe	Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean.	4
Increased basophil count	An abnormally increased count of basophils per volume in the blood circulation.	4
Increased blood urea nitrogen	An increased amount of nitrogen in the form of urea in the blood.	23
Increased body mass index	Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of overweight compared to averages.	5
Increased bone mineral density	An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.	111
Increased cerebral lipofuscin	Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.	10
Increased circulating ACTH level	An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.	14
Increased circulating IgA concentration	An abnormally increased level of immunoglobulin A in blood.	31
Increased circulating IgE concentration	An abnormally increased overall level of immunoglobulin E in blood.	43
Increased circulating IgG concentration	An abnormally increased level of immunoglobulin G in blood.	26
Increased circulating IgG subclass	An elevation of circulating IgG level predominantly related to an elevation of one of the four IgG subclasses.	3
Increased circulating IgM level	An abnormally increased level of immunoglobulin M in blood.	38
Increased circulating NT-proBNP concentration	An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP).	4
Increased circulating T4 concentration	An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).	4
Increased circulating aldosterone concentration	Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.	32
Increased circulating androgen concentration	An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.	18
Increased circulating androstenedione concentration	Increased concentration of androstenedione in the blood circulation.	10
Increased circulating antibody concentration	An increased level of gamma globulin (immunoglobulin) in the blood.	109
Increased circulating beta-C-terminal telopeptide concentration	A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation.	4
Increased circulating brain natriuretic peptide concentration	An increased concentration of brain natriuretic peptide in the blood circulation.	3
Increased circulating chylomicron concentration	Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.	4
Increased circulating corticosterone level	An abnormally elevated concentration of corticosterone in the blood.	3
Increased circulating cortisol level	Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.	32
Increased circulating creatine kinase MB isoform	An increased concentration of the MB isoform of creatine kinase in the blood circulation.	5
Increased circulating ferritin concentration	Increased concentration of ferritin in the blood circulation.	48
Increased circulating free T4 concentration	An elevated concentration of free thyroxine (fT4) in the blood circulation.	4
Increased circulating free fatty acid level	A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues.	6
Increased circulating globulin level	An abnormally elevated concentration of globulins in the blood.	5
Increased circulating gonadotropin level	Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.	91
Increased circulating hemoglobin concentration	Concentration of hemoglobin in the blood circulation above the upper limit of normal.	14
Increased circulating insulin-like growth factor 1 concentration	An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation.	6
Increased circulating interferon-gamma concentration	An elevation in the concentration of interferon gamma measured in the blood circulation.	21
Increased circulating interleukin 10 concentration	An elevation of the concentration of interleukin 10 in the blood circulation.	5
Increased circulating interleukin 18 concentration	An increased concentration of interleukin-18 in the blood circulation.	3
Increased circulating interleukin 6 concentration	The concentration of interleukin-6 in the blood circulation is above the upper limit of normal.	18
Increased circulating interleukin 8 concentration	An increased concentration of interleukin-8 in the circulation.	3
Increased circulating iron concentration	The concentration of iron in the blood circulation is above the upper limit of normal.	13
Increased circulating lactate concentration	Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).	223
Increased circulating lactate dehydrogenase concentration	An elevated level of the enzyme lactate dehydrogenase in the blood circulation.	81
Increased circulating osteocalcin level	An elevated level of osteocalcin in the blood.	5
Increased circulating progesterone	An elevated concentration of progesterone in the blood.	4
Increased circulating prolactin concentration	The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy.	27
Increased circulating purine concentration	Abnormally elevated concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring.	3
Increased circulating renin concentration	An increased level of renin in the blood.	19
Increased circulating thyroglobulin concentration	An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.	9
Increased circulating troponin T concentration	An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction.	4
Increased circulating very long-chain fatty acid concentration	Increased concentration of very long-chain fatty acids in the blood circulation. Very long-chain fatty acids are fatty acids (FAs) with a chain-length of 22 or more carbons.	10
Increased connective tissue	The presence of an abnormally increased amount of connective tissue.	28
Increased corneal curvature	An increase in the degree of curvature of the cornea compared to normal.	119
Increased corneal thickness	A increased anteroposterior thickness of the cornea.	5
Increased cup-to-disc ratio	An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disk. The optic disc has an orange-pink rim with a pale center (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells.	8
Increased density of long bones	An abnormal increase in the bone density of the long bones.	12
Increased endomysial connective tissue	An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscule fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium.	31
Increased erythrocyte protoporphyrin concentration	Concentration of protoporphyrins in erythrocytes above the upper limit of normal.	7
Increased fecal porphyrin	Abnormally high concentration of fecal porphyrins in feces.	5
Increased female libido	Elevated sexual desire in female	18
Increased femoral anteversion	An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward.	5
Increased fibular diameter	Increased width of the cross sectional diameter of the fibula.	3
Increased glutamine family amino acid level in urine	An elevated level of an glutamine family amino acid in the urine.	5
Increased hematocrit	An elevation above the normal ratio of the volume of red blood cells to the total volume of blood.	11
Increased hepatic echogenicity	Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device.	5
Increased hepatic glycogen content	An increase in the amount of glycogen stored in hepatocytes compared to normal.	11
Increased hepatocellular lipid droplets	An abnormal increase in the amount of intracellular lipid droplets in hepatocytes.	5
Increased intervertebral space	An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disk space.	6
Increased intraabdominal fat	An abnormal increase in the amount of intraabdominal fat tissue.	3
Increased intracranial pressure	An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.	90
Increased intramyocellular lipid droplets	An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images.	23
Increased jitter at single fiber EMG	The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG).	8
Increased left ventricular end-diastolic volume	Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole).	22
Increased level of L-fucose in urine	An increase in the level of L-fucose in the urine.	12
Increased level of hippuric acid in urine	An increase in the level of hippuric acid in the urine.	5
Increased libido	Elevated sexual desire.	18
Increased mean corpuscular hemoglobin concentration	An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell).	16
Increased mean corpuscular volume	Larger than normal size of erythrocytes.	53
Increased mean platelet volume	Average platelet volume above the upper limit of the normal reference interval.	24
Increased megakaryocyte count	Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow.	8
Increased muscle fatiguability	An abnormal, increased fatiguability of the musculature.	19
Increased muscle glycogen content	An increased amount of glycogen in muscle tissue.	11
Increased muscle lipid content	An abnormal accumulation of lipids in skeletal muscle.	40
Increased neuronal autofluorescent lipopigment	Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.	8
Increased nuchal translucency	Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy).	55
Increased overbite	Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm.	12
Increased proportion of CD25+ mast cells	An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain).	6
Increased proportion of CD8-positive, alpha-beta memory T cells	An abnormally elevated proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.	3
Increased proportion of HLA DR+ T cells	An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation.	3
Increased proportion of memory T cells	An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood.	4
Increased proportion of transitional B cells	An elevation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.	4
Increased proteinogenic amino acid level in urine	An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.	45
Increased pulmonary vascular resistance	Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units.	13
Increased radioactive iodine uptake	An elevated amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.	7
Increased red blood cell mass	The presence of an increased mass of red blood cells in the circulation.	5
Increased sensitivity to ionizing radiation	An abnormally increased sensitivity to the effects of ionizing radiation.	14
Increased serine family amino acid in urine	An increased level of a serine family amino acid in the urine.	14
Increased serum bile acid concentration	An increase in the concentration of bile acid in the blood.	23
Increased serum estradiol	An elevation above normal limits of the concentration of estradiol in the circulation.	9
Increased serum pyruvate	An increased concentration of pyruvate in the blood.	58
Increased serum serotonin	A increased concentration of serotonin in the blood.	13
Increased serum testosterone level	An elevated circulating testosterone level in the blood.	11
Increased size of nasopharyngeal adenoids	An abnormal increase in the size of nasopharyngeal adenoids.	3
Increased skull ossification	An increase in the magnitude or amount of ossification of the skull.	8
Increased sulfur amino acid level in urine	An elevated level of a sulfur-containing amino acid in the urine.	17
Increased susceptibility to fractures	An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.	228
Increased theta frequency activity in EEG	Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution.	11
Increased total bilirubin	Increased concentration of total (conjugated and unconjugated) bilirubin in the blood.	14
Increased total iron binding capacity	An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity.	4
Increased urinary cortisol level	Abnormally increased concentration of cortisol in the urine.	16
Increased urinary glycerol	An increased concentration of glycerol in the urine.	3
Increased urinary hypoxanthine level	The concentration of hypoxanthine in the urine, normalized for urine concentration, is above the upper limit of normal.	3
Increased urinary non-proteinogenic amino acid level	An increased level in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.	33
Increased urinary porphobilinogen	The concentration of porphobilinogen in the urine, normalized for urine concentration, is above the upper limit of normal.	6
Increased urinary potassium	An increased concentration of potassium(1+) in the urine.	9
Increased urinary sulfite level	The concentration of SO3(2-), i.e., sulfite, in the urine, normalized for urine concentration, is above the upper limit of normal.	3
Increased urinary taurine	Increased concentration of taurine in the urine.	3
Increased urinary type 1 collagen N-terminal telopeptide level	An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10 cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours.	3
Increased urine alpha-ketoglutarate concentration	A greater than normal concentration of 2-oxoglutaric acid in the urine.	12
Increased urine proteinogenic amino acid derivative level	An elevated urine level of a compound that is derived from an amino acid.	11
Increased urine succinate level	The concentration of succinate in the urine, normalized for urine concentration, is above the upper limit of normal.	4
Increased variability in muscle fiber diameter	An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.	115
Increased vertebral height	Increased top to bottom height of vertebral bodies.	10
Increased waist to hip ratio	Increased waist-to-hip ratio (WHR) is a measurement above the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement.	36
Ineffective esophageal peristalsis	Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus.	18
Inertia	Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example).	5
Infancy onset short-trunk short stature	A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy.	3
Infantile axial hypotonia	Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy.	47
Infantile encephalopathy	Encephalopathy with onset in the infantile period.	8
Infantile muscular hypotonia	Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.	216
Infantile sensorineural hearing impairment	A form of sensorineural hearing impairment with infantile onset.	5
Infantile spasms	'Infantile spasms represent a subset of \''epileptic spasms\''. Infantile Spasms are epileptic spasms starting in the first year of life (infancy).'	151
Infection following live vaccination	An infection resulting from live attenuated vaccines (LAV), that is, a vaccine prepared from living viruses or bacteria that have been weakened under laboratory conditions. LAV vaccines will replicate in a vaccinated individual and produce an immune response but usually cause mild or no disease. are derived from disease-causing pathogens.	24
Infection-related seizure	Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever.	145
Infectious encephalitis	A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity.	45
Inferior cerebellar vermis hypoplasia	Underdevelopment of the inferior portion of the vermis of cerebellum.	15
Inferior lens subluxation	Partial displacement of the lens in the inferior direction.	5
Inflammation of the large intestine	Inflammation, or an inflammatory state in the large intestine.	113
Inflammatory abnormality of the eye	Inflammation of the eye, parts of the eye or the periorbital region.	218
Inflammatory myopathy	Chronic muscle inflammation accompanied by muscle weakness.	3
Inflexible adherence to routines	A need to strictly adhere to repetitive routines or patterns of behavior which are created by the environment. One becomes upset or distressed when their routines are disrupted or altered.	6
Infra-orbital crease	Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma.	9
Infra-orbital fold	Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge.	3
Inguinal freckling	The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.	7
Insidious onset	Gradual, very slow onset of disease manifestations.	19
Insomnia	Persistent difficulty initiating or maintaining sleep.	71
Inspiratory stridor	Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities.	16
Insulin insensitivity	Decreased sensitivity toward insulin.	3
Insulin resistance	Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.	109
Insulin-resistant diabetes mellitus	A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels.	39
Insulinoma	A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia.	6
Intellectual disability, borderline	Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.	25
Intellectual disability, moderate	Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.	170
Intellectual disability, profound	Profound mental retardation is defined as an intelligence quotient (IQ) below 20.	109
Intellectual disability, progressive	The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.	39
Intention tremor	A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).	104
Intercostal muscle weakness	Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall.	11
Interhemispheric cyst	Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system.	7
Interlobular septal thickening	Presence of thickening of the interlobular septa of the lungs as seen on a CT scan.	6
Intermediate young adult onset	Onset of disease at an age of greater than or equal to 19 to under 25 years.	21
Intermittent claudication	Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still.	12
Intermittent diarrhea	Repeated episodes of diarrhea separated by periods without diarrhea.	21
Intermittent hyperventilation	Episodic hyperventilation.	6
Intermittent jaundice	Jaundice that is sometimes present, sometimes not.	9
Intermittent painful muscle spasms	History of repeated intermittent involuntary muscle contractions that were painful.	4
Intermittent thrombocytopenia	Reduced platelet count that occurs sporadically, i.e., it comes and goes.	5
Internal ophthalmoplegia	Paralysis of the iris and ciliary apparatus.	3
Internally nucleated skeletal muscle fibers	An abnormally increased proportion of nuclei of sarcomeres with an internal localization. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5% of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei.	6
Interosseus muscle atrophy	Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones.	5
Interphalangeal joint contracture of finger	Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue.	217
Interrupted aortic arch	Non-continuity of the arch of aorta with an atretic point or absent segment.	22
Interrupted inferior vena cava with azygous continuation	Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava.	5
Interstitial cardiac fibrosis	A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces.	10
Intervertebral disk calcification	The presence of abnormal calcium deposition of the intervertebral disk.	4
Intervertebral disk degeneration	The presence of degenerative changes of intervertebral disk.	6
Intervertebral space narrowing	Decreased height of the intervertebral disk.	10
Intestinal atresia	An abnormal closure, or atresia of the tubular structure of the intestine.	66
Intestinal bleeding	Bleeding from the intestines.	6
Intestinal fistula	An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract.	35
Intestinal hypoplasia	Developmental hypoplasia of the intestine.	20
Intestinal lymphangiectasia	Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines.	5
Intestinal lymphoid nodular hyperplasia	A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centers are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centers; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine.	3
Intestinal malrotation	An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.	151
Intestinal obstruction	Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal.	82
Intestinal perforation	A hole (perforation) in the wall of the intestine.	6
Intestinal polyp	A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base.	67
Intestinal polyposis	The presence of multiple polyps in the intestine.	62
Intestinal pseudo-obstruction	A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded.	36
Intra-epidermal blistering	A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleavage occurs in the basal layer, which is the innermost layer of the epidermis and consists of a single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate and thereby produce new cells for other epidermal layers. As the cells move towards the upper layers of the epidermis they mature and eventually form cornified cells. The suprabasal cell layer lies directly above the basal layer and is composed of five to ten layers of cells.	6
Intra-oral hyperpigmentation	Increased pigmentation, either focal or generalized, of the mucosa of the mouth.	9
Intraalveolar phospholipid accumulation	Accumulation of amorphous PAS-positive material in the space between alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis.	10
Intracellular accumulation of autofluorescent lipopigment storage material	The intracellular accumulation of autofluorescent storage material.	8
Intracerebral periventricular calcifications	The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles.	7
Intracranial arterial calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial).	3
Intracranial calcification	Intracranial calcifications refer to calcifications within the brain parenchyma or vasculature. The five major components of the brain comprise the cerebrum, cerebellum, brain stem, pituitary gland, and hypothalamus.	150
Intracranial cystic lesion	A cystic lesion originating within the brain.	209
Intracranial hemorrhage	Hemorrhage occurring within the skull.	155
Intrahepatic bile duct dilatation	Increased diameter (caliber) of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts).	4
Intrahepatic biliary atresia	Atresia in the intrahepatic bile duct.	7
Intrahepatic cholestasis	Impairment of bile flow due to obstruction in the small bile ducts within the liver.	25
Intramuscular hematoma	Blood clot formed within muscle tissue following leakage of blood into the tissue.	8
Intraventricular hemorrhage	Bleeding into the ventricles of the brain.	9
Intrinsic hand muscle atrophy	Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles.	28
Intussusception	An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine.	10
Inverted nipples	The presence of nipples that instead of pointing outward are retracted inwards.	50
Involuntary vocalization	Production of sound done without will or conscious control. Involuntary vocalizations include tics, stereotypies vocalizations as part of dystonia or chorea, continuous vocalizing behaviors such as groaning or grunting, pathological laughter and crying, and others. These vocalizations are not recognized as socially or culturally appropriate.	49
Iridocyclitis	A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body.	12
Iridodonesis	Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens.	5
Iris atrophy	Loss of iris tissue (atrophy)	8
Iris coloboma	A coloboma of the iris.	181
Iris hypopigmentation	An abnormal reduction in the amount of pigmentation of the iris.	63
Iris melanoma	Malignant tumor of melanocytes affecting the iris.	5
Iris nodule	The presence of a nodule (small rounded lump of tissue) in the iris.	4
Iris transillumination defect	Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris.	15
Iron accumulation in brain	An abnormal build up of iron (Fe) in brain tissue.	16
Iron accumulation in substantia nigra	An anomalous build up of iron (Fe) in the substantia nigra.	4
Irregular capital femoral epiphysis	Irregular surface of the normally relatively smooth capital femoral epiphysis.	6
Irregular carpal bones	Carpal bones with irregular or fragmented margins.	3
Irregular epiphyses	An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.	25
Irregular iliac crest	Irregularity of the iliac crest, which is the superior border of the wing of the ilium.	6
Irregular menstruation	Abnormally high variation in the amount of time between periods.	62
Irregular vertebral endplates	An irregular surface of the vertebral end plates, which are normally relatively smooth.	30
Irregularly shaped sperm tail	Irregular or changing caliber (diameter) along the tail of the sperm.	15
Irritability	A proneness to anger, i.e., a tendency to become easily bothered or annoyed.	272
Ischemic stroke	Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured.	38
Isomerism	Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other.	7
Ivory epiphyses	Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.	9
Ivory epiphyses of the phalanges of the hand	Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.	6
J-shaped sella turcica	A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull.	13
Jaundice	Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.	221
Jaw claudication	Pain in the jaw or ear induced by chewing or otherwise moving the jaw.	5
Jaw hyperreflexia	Increased intensity of muscle tendon reflexes in jaw.	41
Jejunal atresia	A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum.	9
Jerk-locked premyoclonus spikes	Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG.	4
Joint contracture of the 3rd finger	Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected.	7
Joint contracture of the 4th finger	Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected.	7
Joint contracture of the 5th finger	Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected.	15
Joint contracture of the hand	Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.	284
Joint hemorrhage	Hemorrhage occurring within a joint.	17
Joint stiffness	Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.	202
Joint subluxation	A partial dislocation of a joint.	30
Junctional ectopic tachycardia	Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern.	5
Juvenile aseptic necrosis	Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers.	42
Juvenile cataract	A type of cataract that is not apparent at birth but that arises in childhood or adolescence.	11
Juvenile myelomonocytic leukemia	Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor.	18
Kaposi's sarcoma	A systemic disease which can present with cutaneous lesions with or without internal involvement. Tumors are caused by Human herpesvirus 8 (HHV8), also known as Kaposi's sarcoma-associated herpesvirus (KSHV).	3
Keratan sulfate excretion in urine	An increased concentration of keratan sulfate in the urine.	5
Keratitis	Inflammation of the cornea.	89
Keratoacanthoma	Keratoacanthoma (KA) is a common benign epithelial tumor that originates from the pilosebaceous glands. In most cases, it is characterized by rapid evolution, followed by spontaneous resolution over 4 to 6 months. KA usually presents as a solitary flesh-coloured nodule with a central keratin plug on the sun-exposed skin of elderly individuals.	5
Keratoconjunctivitis	Inflammation of the cornea and conjunctiva.	52
Keratoconjunctivitis sicca	Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.	47
Keratoconus	A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex.	116
Keratoglobus	Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea.	4
Keratosis pilaris	An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.	37
Ketoacidosis	Acidosis resulting from accumulation of ketone bodies.	41
Ketonuria	High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state.	37
Ketosis	Presence of elevated levels of ketone bodies in the body.	69
Ketotic hypoglycemia	Low blood glucose is accompanied by elevated levels of ketone bodies in the body.	12
Kinetic tremor	Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor.	110
Kinked brainstem	A kinked appearance of the brainstem, i.e., an exaggerated flexure.	5
Knee clonus	Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes.	7
Knee contracture	Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the knee joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.	109
Knee flexion contracture	A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.	104
Knee joint hypermobility	The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees).	5
Knee pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee.	17
Knuckle pad	Knuckle pads are benign fibrofatty subcutaneous pads located over the proximal interphalangeal (PIP) joints that can be mistaken for arthritis. Rarely they affect the dorsal aspect of the metacarpophalangeal (MCP) joints. Clinically they are painless and often affect both hands in an asymmetrical pattern.	8
Kyphoscoliosis	An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.	196
Lack of T cell function	Complete inability of T cells to perform their functions in cell-mediated immunity.	7
Lack of insight	Lack of insight (Anosognosia) is a neurological condition in which an individual is unaware of his or her own neurological deficit or psychiatric condition. Anosognosia can be associated with mental illness, dementia, and structural brain lesions and can affect an individual's conscious awareness of deficits involving judgment, emotions, memory, executive function, language skills, and motor ability.	10
Lack of peer relationships	The state of not having relationships with peers outside of school or organized activity appropriate to developmental level. This may be caused by behavioral or physical barriers.	10
Lacrimal duct aplasia	A congenital defect resulting in absence of the lacrimal duct.	11
Lacrimal duct atresia	A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct.	6
Lacrimal duct stenosis	Narrowing of a tear duct (lacrimal duct).	19
Lacrimal gland aplasia	A congenital defect of development characterized by absence of the lacrimal gland.	4
Lacrimal gland hypoplasia	Underdevelopment of the lacrimal gland.	4
Lacrimation abnormality	Abnormality of tear production.	87
Lactic acidosis	An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.	193
Lacticaciduria	An increased concentration of lactic acid in the urine.	32
Lactose intolerance	An inability to digest lactose.	5
Lacunar stroke	A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain.	6
Lafora bodies	An intraneuronal inclusion body composed of acid mucopolysaccharides.	3
Lagophthalmos	A condition in which the eyelids do not close to cover the eye completely.	19
Lambdoidal craniosynostosis	A kind of craniosynostosis affecting the lambdoidal suture.	18
Lamellar cataract	A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens.	6
Lamina lucida cleavage	The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin.	10
Large basal ganglia	Increased size of the basal ganglia.	3
Large cafe-au-lait macules with irregular margins	Large hypermelanotic macules with jagged borders.	6
Large earlobe	Increased volume of the earlobe, that is, abnormally prominent ear lobules.	37
Large fontanelles	In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.	175
Large for gestational age	The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.	52
Large foramen magnum	An abnormal increase in the size of the foramen magnum.	6
Large iliac wing	Increased size of the ilium ala.	6
Large intestinal polyposis	The presence of multiple polyps in the large intestine.	32
Large joint hypermobilty	The capability that a large joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Large joints include shoulders, elbows, hips, knees, and ankles.	8
Large knee	Abnormally increased size of the knee joint.	3
Large placenta	Increased size of the placenta.	7
Large posterior fontanelle	An enlargement of the posterior fontanelle relative to age-dependent norms.	19
Large sella turcica	An abnormal enlargement of the sella turcica.	15
Laryngeal atresia	Congenital absence of the lumen of the larynx. Laryngeal atresia is a rare condition. If the laryngeal opening fails to develop, fluid secreted by the lungs cannot be expelled. In a fetus with laryngeal atresia, the lungs are either normal or hyperplastic, not hypoplastic. Mortality is reported as 100%. At obstetric US examination, views of the fetal neck demonstrate a dilated trachea filled with trapped fluid. Views of the fetal chest show enlarged, hyperechoic lungs, with dilated fluid-filled bronchi. Fetal ascites is usually present.	3
Laryngeal calcification	Calcification (abnormal deposits of calcium) in the laryngeal tissues.	3
Laryngeal carcinoma	A carcinoma of the larynx.	10
Laryngeal cartilage malformation	A malformation of the laryngeal cartilage.	3
Laryngeal cleft	Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esophagus.	7
Laryngeal dystonia	A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech.	15
Laryngeal edema	An abnormal accumulation of fluid and swelling in the tissues of the larynx.	5
Laryngeal hypoplasia	Underdevelopment of the larynx.	9
Laryngeal stenosis	Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing.	16
Laryngeal stridor	An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat.	6
Laryngeal web	A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.	4
Laryngomalacia	Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.	84
Laryngospasm	A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe.	41
Late first trimester onset	This term refers to a phenotypic feature that was first observed prior to birth in the first trimester during the early fetal period, which is defined as 11 0/7 to 13 6/7 weeks of gestation (inclusive).	10
Late onset	A type of adult onset with onset of symptoms after the age of 60 years.	135
Late young adult onset	Onset of disease at an age of greater than or equal to 25 to under 40 years.	43
Late-onset proximal muscle weakness	Lack of strength of the proximal musculature occurring late in the clinical course.	8
Lateral clavicle hook	An excessive upward convexity of the lateral clavicle.	14
Laterally extended eyebrow	An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location.	5
Leber optic atrophy	Degeneration of retinal ganglion cells and their axons.	10
Left anterior fascicular block	Conduction block in the anterior division of the left bundle branch of the bundle of His.	7
Left atrial enlargement	Increase in size of the left atrium.	23
Left axis deviation	A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between -30 degrees and -90 degrees.	3
Left bundle branch block	A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG.	18
Left superior vena cava draining to coronary sinus	A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence.	4
Left ventricular diastolic dysfunction	Abnormal function of the left ventricule during left ventricular relaxation and filling.	7
Left ventricular hypertrophy	Enlargement or increased size of the heart left ventricle.	113
Left ventricular noncompaction	Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer.	19
Left ventricular noncompaction cardiomyopathy	Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.	10
Left ventricular outflow tract obstruction	Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle.	8
Left ventricular systolic dysfunction	Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent.	88
Left-to-right shunt	Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right.	10
Leg dystonia	A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs.	8
Leiomyosarcoma	A smooth muscle connective tissue tumor, which is rare type of cancer that is a malignant neoplasm of smooth muscle. When such a neoplasm is benign, it is called a leiomyoma.	28
Lens luxation	Complete dislocation of the lens of the eye.	7
Lens subluxation	Partial dislocation of the lens of the eye.	15
Lenticonus	A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly.	10
Lentiglobus	Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging.	3
Lethargy	A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.	226
Leukemia	A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.	175
Leukocoria	An abnormal white reflection from the pupil rather than the usual black reflection.	8
Leukocytosis	An abnormal increase in the number of leukocytes in the blood.	159
Leukodystrophy	Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies.	100
Leukoencephalopathy	This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.	224
Leukonychia	White discoloration of the nails.	14
Leukopenia	An abnormal decreased number of leukocytes in the blood.	156
Levator palpebrae superioris atrophy	Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid.	6
Leydig cell neoplasia	The presence of a neoplasm of the testis with origin in a Leydig cell.	7
Lichenification	Thickening and hardening of the epidermis seen with exaggeration of normal skin lines.	15
Limb ataxia	A kind of ataxia that affects movements of the extremities.	90
Limb dysmetria	A type of dysmetria involving the limbs.	16
Limb dystonia	A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.	82
Limb fasciculations	Fasciculations affecting the musculature of the arms and legs.	8
Limb pain	Chronic pain in the limbs with no clear focal etiology.	57
Limb undergrowth	Limb shortening because of underdevelopment of one or more bones of the extremities.	244
Limb-girdle muscle atrophy	Muscular atrophy affecting the muscles of the limb girdle.	38
Limb-girdle muscle weakness	Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis.	102
Limb-girdle muscular dystrophy	Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders).	17
Limbal dermoid	A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid).	8
Limbal stem cell deficiency	A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus.	8
Limitation of knee mobility	An abnormal limitation of knee joint mobility.	35
Limitation of movement at ankles	An abnormal limitation of the mobility of the ankle joint.	7
Limited elbow extension	Limited ability to straighten the arm at the elbow joint.	54
Limited extraocular movements	Limited mobility of the eye within its socket.	15
Limited hip extension	Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward.	5
Limited hip movement	A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip.	23
Limited knee extension	Reduced ability to extend (straighten) the knee joint.	21
Limited knee flexion	Reduced ability to flex (bend) the knee joint.	5
Limited knee flexion/extension	A limited ability of the knee joint to perform extension and flexion.	3
Limited neck flexion	Reduced ability to lower the chin towards the chest by bending the neck.	4
Limited pronation/supination of forearm	A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation).	11
Limited shoulder movement	A limitation of the range of movement of the shoulder joint.	13
Limited vertical extraocular movement	Limited mobility of the eye to move up and down (vertically) within its socket.	6
Limited wrist movement	An abnormal limitation of the mobility of the wrist.	15
Linear nevus sebaceous	A type of nevus sebaceous with a linear form, raised borders and yellowish color.	3
Lingual dystonia	Involuntary protrusions, movements, spams and contortions of the tongue.	5
Lip fissure	A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation.	3
Lip pit	A depression located on a lip.	13
Lip telangiectasia	Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips.	6
Lipemia retinalis	A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature.	5
Lipoatrophy	Localized loss of fat tissue.	78
Lipodystrophy	Degenerative changes of the fat tissue.	126
Lipoma	Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous.	23
Lisch nodules	The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris..	4
Lissencephaly	A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.	187
Lithoptysis	Expectoration (coughing up) of a broncholith. Broncholithiasis is defined as the presence of calculi in the tracheobronchial tree. It is a rare disease but can be characterized by clinical and radiological findings of a calcified lymph node eroding bronchial wall and opening into the bronchial lumen.	44
Livedo	A reddish-blue mottled condition of skin caused by inflammation of the cutaneous blood vessels.	20
Livedo reticularis	Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension.	18
Liver abscess	A circumscribed area of pus or necrotic debris in the liver.	12
Lobar holoprosencephaly	A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally.	26
Lobulated tongue	Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour.	18
Localized hirsutism	Abnormally increased hair growth with a localized distribution.	21
Long clavicles	Increased length of the clavicles.	15
Long ear	Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear.	6
Long eyebrows	Increased length of the hairs of the eyebrows.	3
Long eyelashes	Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).	128
Long face	Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).	257
Long fibula	Disproportionately long fibulae.	4
Long foot	Increased back to front length of the foot.	28
Long hallux	Increased length of the big toe.	22
Long nasal bridge	Increased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose.	5
Long neck	Increased inferior-superior length of the neck.	7
Long nose	Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base.	40
Long palm	For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length.	5
Long palpebral fissure	Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures.	71
Long penis	Penile length more than 2 SD above the mean for age.	10
Long phalanx of finger	Increased length of multiple or a single phalanx of finger.	3
Long thorax	Increased inferior to superior extent of the thorax.	8
Long thumb	Length of the thumb is greater than normal.	8
Long toe	Toes that appear disproportionately long compared to the foot.	46
Long upper lip	Increased width of the upper lip.	8
Long-bone fracture	A partial or complete breakage of a lone bone (e.g., the femur, tibia, fibula, humerus, radius, and ulna).	12
Long-tract signs	Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions.	9
Lop ear	Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha.	9
Loss of ambulation	Inability to walk in a person who previous had the ability to walk.	140
Loss of consciousness	Loss of alertness and orientation to place and time.	26
Loss of eyelashes	This term refers to the loss of eyelashes that were previously present.	6
Loss of facial adipose tissue	Loss of normal subcutaneous fat tissue in the face.	9
Loss of gluteal subcutaneous adipose tissue	Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region.	4
Loss of subcutaneous adipose tissue in limbs	Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg.	10
Loss of truncal subcutaneous adipose tissue	Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk.	3
Low alkaline phosphatase	Abnormally reduced serum levels of alkaline phosphatase.	10
Low anterior hairline	Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.	146
Low back pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back.	15
Low frustration tolerance	The feeling of frustration can be defined as an emotional reaction that occurs when a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration, characterized by crying or temper tantrums in children, or aggressive or other undesirable behaviors.	17
Low hanging columella	Columella extending inferior to the level of the nasal base, when viewed from the side.	56
Low insertion of columella	Insertion of the posterior columella below the nasal base.	7
Low plasma citrulline	A decreased concentration of citrulline in the blood.	19
Low posterior hairline	Hair on the neck extends more inferiorly than usual.	116
Low self-esteem	Persistent, excessively negative, and critical thoughts of one's personal abilities, attributes, or any feature related to the self and self-attitude. The affected individual believes they are a lesser being compared to others in their social peer group.	11
Low serum calcitriol	A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.	7
Low-frequency sensorineural hearing impairment	A form of sensorineural hearing impairment that affects primarily the lower frequencies.	4
Low-grade fever	Mild fever that does not exceed 38.5 degrees centigrade.	11
Low-molecular-weight proteinuria	Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).	7
Low-output congestive heart failure	A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes.	3
Low-set nipples	Placement of the nipples at a lower than normal location.	12
Lower eyelid coloboma	A short discontinuity of the margin of the lower eyelid.	10
Lower limb amyotrophy	Muscular atrophy affecting the lower limb.	84
Lower limb asymmetry	A difference in length or diameter between the left and right leg.	46
Lower limb muscle weakness	Weakness of the muscles of the legs.	229
Lower limb pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg.	41
Lower limb spasticity	Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis.	264
Lower limb undergrowth	Leg shortening because of underdevelopment of one or more bones of the lower extremity.	16
Lower lip pit	Depression located on the vermilion of the lower lip, usually paramedian.	4
Lower-limb joint contracture	A limitation in the passive range of motion of a joint of the lower limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.	227
Lower-limb metaphyseal irregularity	Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg.	10
Lumbar hemivertebrae	Absence of one half of the vertebral body in the lumbar spine.	4
Lumbar hyperlordosis	An abnormal accentuation of the inward curvature of the spine in the lumbar region.	99
Lumbar kyphosis	Over curvature of the lumbar region.	9
Lumbosacral hemangioma	A spinal cord hemangioma located in the lumbosacral spine region.	4
Lupus anticoagulant	Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces.	7
Lupus nephritis	Lupus nephritis is a type of glomerulonephritis that constitutes one of the most severe organ manifestations of systemic lupus erythematosus. Lupus nephritis is subclassified in six distinct classes, that represent different manifestations and severities of renal involvement and guide the therapeutic management.	32
Lymph node hypoplasia	Underdevelopment of the lymph nodes.	5
Lymphadenitis	Inflammation of a lymph node.	17
Lymphadenopathy	Enlargement (swelling) of a lymph node.	247
Lymphangiectasis	Dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma.	10
Lymphangioma	Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor.	11
Lymphatic vessel neoplasm	A benign or malignant neoplasm arising from the lymphatic vessels.	3
Lymphedema	Localized fluid retention and tissue swelling caused by a compromised lymphatic system.	75
Lymphocytic interstitial pneumonia	Lymphocytic interstitial pneumonitis is a benign lymphoproliferative disorder of the lung that is characterized by the presence of a dense, predominantly lymphocytic interstitial infiltrate (lymphocytes, plasma cells, other elements of the lymphoreticular system) that expands the alveolar septa.	3
Lymphocytosis	Increase in the number or proportion of lymphocytes in the blood.	26
Lymphoma	A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.	122
Lymphopenia	A reduced number of lymphocytes in the blood.	184
Macrocephaly at birth	The presence of an abnormally large skull with onset at birth.	9
Macrocytic anemia	A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).	74
Macrodactyly	Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit.	5
Macrodontia	Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth.	31
Macrodontia of permanent maxillary central incisor	Increased size of the maxillary central secondary incisor tooth.	13
Macroglossia	Increased length and width of the tongue.	158
Macroorchidism	The presence of abnormally large testes.	20
Macroscopic hematuria	Hematuria that is visible upon inspection of the urine.	20
Macrotia	Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).	268
Macrovesicular hepatic steatosis	A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes.	17
Macular atrophy	Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.	44
Macular coloboma	A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented.	11
Macular degeneration	A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.	101
Macular drusen	Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. This class refers to the presence of Drusen in the macula.	8
Macular dystrophy	Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.	20
Macular edema	Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease.	34
Macular exudate	Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature.	6
Macular hemorrhage	Bleeding occurring within the macula lutea of the retina.	7
Macular hole	A macular hole is a small break in the macula, located in the center of the retina.	4
Macular hyperpigmentation	Increased amount of pigmentation in the macula lutea.	7
Macular hypopigmentation	Decreased amount of pigmentation in the macula lutea.	5
Macular hypoplasia	Underdevelopment of the macula lutea.	15
Macular purpura	Purpura that is flat (non-palpable, not raised).	88
Macular scar	Scar tissue in the macula.	5
Macular thickening	Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging.	40
Macule	A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.	231
Maculopapular exanthema	A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear.	21
Madelung deformity	An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna.	6
Malabsorption	Impaired ability to absorb one or more nutrients from the intestine.	234
Malaise	A feeling of general discomfort, weakness, or lack of health.	45
Malalignment of the great toenail	A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges.	3
Malar flattening	Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.	211
Malar prominence	Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face.	7
Malar rash	An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose.	39
Male hypogonadism	Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis.	45
Male pseudohermaphroditism	Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes.	42
Male reproductive system neoplasm	A neoplasm that affects the male reproductive system.	59
Male sexual dysfunction	A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity	91
Male urethral meatus stenosis	An abnormal narrowing of the urethral opening (meatus) of the penis.	4
Malformed lacrimal duct	Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies.	3
Malignant genitourinary tract tumor	The presence of a malignant neoplasm of the genital system.	36
Malignant hyperthermia	Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C. Malignant hyperthermia may occur in response to either inhalational anesthetics such as halothane, to muscle relaxants such as succinylcholine, or to exercise.	26
Malignant mesothelioma	Malignant mesothelioma is a form of cancer that originates from the cells of the mesothelium, a thin tissue layer surrounding the body's internal organs. Malignant mesothelioma is almost exclusively caused by asbestos exposure, pleural mesothelioma being the most common form, affecting the lining of the lungs called the pleura. Other forms such as perioneal-, percardial- or testicular- mesothelioma are much rarer.	3
Malignant neoplasm of the central nervous system	A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns.	97
Malnutrition	A deficiency in the intake of energy and nutrients.	42
Malrotation of colon	An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis.	4
Malrotation of small bowel	A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel.	9
Mandibular aplasia	Absence of the mandible.	13
Mandibular osteomyelitis	Osteomyelitis of the lower jaw.	3
Mandibular pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible.	3
Mandibular prognathia	Abnormal prominence of the chin related to increased length of the mandible.	217
Mandibulofacial dysostosis	A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations.	4
Mania	A state of abnormally elevated or irritable mood, arousal, and/or energy levels.	5
Marcus Gunn jaw winking synkinesis	Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva maneuver and even by breathing.	13
Mask-like facies	A lack of facial expression often with staring eyes and a slightly open mouth.	54
Mass on thoracic imaging	A mass is any pulmonary, pleural, or mediastinal lesion seen on chest radiographs as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics). Mass usually implies a solid or partly solid opacity. CT allows more exact evaluation of size, location, attenuation, and other features.	4
Maternal autoimmune disease	A medical history of a fetus or child born to a mother with an autoimmune disease.	14
Maternal diabetes	Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes.	44
Maternal fever in pregnancy	The occurrence of an elevated body temperature of the mother during pregnancy.	3
Maternal hypertension	Increased blood pressure during a pregnancy.	9
Maternal teratogenic exposure	A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy.	4
Maturity-onset diabetes of the young	The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistance, and lack of evidence of autoimmune destruction of the beta cells.	105
Meckel diverticulum	Meckel's diverticulum is a congenital diverticulum located in the distal ileum.	31
Meconium ileus	Obstruction of the intestine due to abnormally thick meconium.	22
Meconium stained amniotic fluid	Amniotic fluid containing the earliest stools of a mammalian infant.	9
Medial arterial calcification	Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries.	4
Medial calcification of large arteries	Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries.	4
Medial degeneration	Medial degeneration of the aorta is to be used as an overarching term for any aortic surgical specimens that demonstrate one or more of the specific histopathologies mucoid extracellular matrix accumulation, elastic fiber fragmentation and/or loss, elastic fiber thinning, elastic fiber disorganization, smooth muscle cell nuclei loss, laminar medial collapse, smooth muscle cell disorganization, medial fibrosis. Grading of medial degeneration is based on the average overall severity of specific histopathologies as described, considering the worst area(s) sampled from multiple slides and aorta sections.	19
Medial flaring of the eyebrow	An abnormal distribution of eyebrow hair growth in the medial direction.	35
Medially deviated second toe	Medial deviation of the second toe.	3
Median cleft palate	Cleft palate of the midline of the palate.	26
Median cleft upper lip	A type of cleft lip presenting as a midline (median) gap in the upper lip.	39
Median pseudocleft lip	A type of mild median cleft lip in which the central tubercle of the upper lip is replaced by a mucosal cleft in the midline.	3
Mediastinal lymphadenopathy	Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes.	30
Mediastinal mass	A mass in the mediastinum seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics).	4
Medullary nephrocalcinosis	The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney).	13
Medullary thyroid carcinoma	The presence of a medullary carcinoma of the thyroid gland.	3
Medulloblastoma	A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults.	19
Megacolon	Persistent and substantial increase in diameter diameter and length of the colon.	149
Megacystis	Dilatation of the bladder postnatally.	10
Megaduodenum	Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum.	3
Megakaryocyte dysplasia	The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei.	5
Megakaryocyte nucleus hyperlobulation	The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus.	6
Megakaryocytopenia	A reduced count of megakaryocytes.	8
Megalencephaly	Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia).	43
Megaloblastic anemia	Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts).	18
Megaloblastic bone marrow	Abnormal increased number of megaloblasts in the bone marrow.	4
Megalocornea	An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age.	54
Melanocytic nevus	A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.	68
Melanoma	The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea).	80
Melena	The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.	24
Membranoproliferative glomerulonephritis	A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity	9
Membranous nephropathy	A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space.	4
Memory impairment	An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.	158
Meningioma	The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.	44
Meningitis	Inflammation of the meninges.	77
Meningocele	Protrusion of the meninges through a defect of the skull or vertebral column.	44
Menometrorrhagia	Prolonged/excessive menses and bleeding at irregular intervals.	5
Menorrhagia	Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.	38
Mesangial hypercellularity	Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain.	7
Mesenteric venous thrombosis	A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine).	3
Mesiodens	A supernumerary tooth in the midline between the maxillary central incisors.	3
Mesoaxial foot polydactyly	The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly.	6
Mesoaxial hand polydactyly	The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly.	13
Mesoaxial polydactyly	The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly.	23
Mesocardia	Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane.	3
Mesomelia	Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.	35
Mesomelic arm shortening	Shortening of the middle parts of the arm in relation to the upper and terminal segments.	5
Mesomelic leg shortening	Shortening of the middle parts of the leg in relation to the upper and terminal segments.	6
Metabolic acidosis	Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.	168
Metabolic alkalosis	Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process.	18
Metabolic ketoacidosis	A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake.	4
Metacarpal pseudoepiphysis	A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone.	10
Metacarpal synostosis	Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx).	17
Metacarpophalangeal joint contracture	A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.	4
Metacarpophalangeal joint hyperextensibility	Increased mobility of one ore more metacarpophalangeal joint.	4
Metacarpophalangeal synostosis	Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint.	4
Metamorphopsia	A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank.	44
Metaphyseal chondrodysplasia	An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.	14
Metaphyseal cupping	Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance.	20
Metaphyseal cupping of metacarpals	Metaphyseal cupping affecting the metacarpal bones.	4
Metaphyseal dysplasia	The presence of dysplastic regions in metaphyseal regions.	35
Metaphyseal irregularity	Irregularity of the normally smooth surface of the metaphyses.	52
Metaphyseal sclerosis	Abnormally increased density of metaphyseal bone.	12
Metaphyseal spurs	Bony outgrowths that extend laterally from the margin of the metaphysis.	9
Metaphyseal striations	Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis).	14
Metaphyseal widening	Abnormal widening of the metaphyseal regions of long bones.	96
Metatarsus adductus	The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.	50
Metatarsus valgus	A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight.	22
Methemoglobinemia	Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues.	6
Methylmalonic acidemia	Increased concentration of methylmalonic acid in the blood.	15
Methylmalonic aciduria	Increased concentration of methylmalonic acid in the urine.	21
Metopic synostosis	Premature fusion of the metopic suture.	28
Metrorrhagia	Bleeding at irregular intervals.	16
Microcephalic sperm head	Decreased size of the head of sperm.	5
Microcolon	A colon of abnormally small caliber.	10
Microcoria	A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs.	4
Microcornea	A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.	134
Microcytic anemia	A kind of anemia in which the volume of the red blood cells is reduced.	47
Microdontia	Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.	174
Microdontia of primary teeth	Decreased size of the primary teeth.	3
Microglossia	Decreased length and width of the tongue.	18
Micrographia	Abnormally small-sized handwriting is formally defined as an impairment of fine motor skills, which mainly manifests as a progressive or stable reduction in amplitude during a writing task.	15
Microlissencephaly	Severe microcephaly and lissencephaly with granular surfaces with immature cortical plate, reduced in thickness, with focal polymicrogyria and immature small neurons with rare processes, intermingled with a considerable number of glial elements.	6
Micromelia	The presence of abnormally small extremities.	94
Micronodular cirrhosis	A type of cirrhosis characterized by the presence of small regenerative nodules.	23
Micropenis	Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.	275
Microphakia	Abnormal smallness of the lens.	3
Microphallus	Length of penis more than 2 SD below the mean for age accompanied by hypospadias.	17
Microphthalmia	A developmental anomaly characterized by abnormal smallness of one or both eyes.	285
Microretrognathia	A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.	84
Microscopic hematuria	Microscopic hematuria detected by dipstick or microscopic examination of the urine.	31
Microspherophakia	Microspherophakia is a rare congenital anomaly characterized by the abnormal spherical shape of the crystalline lens. It is characterized by an increased anteroposterior thickness of the lens associated with reduced equatorial diameter. The primary pathology lies in the development of zonules. The condition is often bilateral and is characterized by small, thick, and spherical lenses.	4
Microtia	Underdevelopment of the external ear.	187
Microtia, first degree	Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean.	5
Microtia, third degree	Presence of some auricular structures, but none of these structures conform to recognized ear components.	11
Microvesicular hepatic steatosis	A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes.	22
Midclavicular hypoplasia	Underdevelopment of the middle portion of the clavicle.	3
Middle age onset	A type of adult onset with onset of symptoms at the age of 40 to 60 years.	250
Midface retrusion	Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.	290
Midline defect of the nose	This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip.	17
Midline hand movements	Hand stereotypies within the medial plane of the body.	29
Midline nasal groove	An abnormal groove on the midline of the nose that may extend to the nasal tip.	4
Midnasal stenosis	Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress.	15
Migraine	Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.	153
Migraine with aura	A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession.	12
Migraine without aura	Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia.	7
Mild fetal ventriculomegaly	A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637).	5
Mild global developmental delay	A mild delay in the achievement of motor or mental milestones in the domains of development of a child.	85
Mild hearing impairment	The presence of a mild form of hearing impairment.	8
Mild microcephaly	Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD).	17
Mild myopia	A mild form of myopia with up to -3.00 diopters.	6
Mild postnatal growth retardation	A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms.	16
Mild proteinuria	Mildly increased levels of protein in the urine (150-500 mg per day in adults).	7
Mild short stature	A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.	21
Milia	Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.	17
Minicore myopathy	Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers.	9
Minimal change glomerulonephritis	The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria.	38
Miosis	Abnormal (non-physiological) constriction of the pupil.	26
Misalignment of incisors	Misaligned incisor.	16
Miscarriage	A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy.	34
Missing ribs	A developmental anomaly with absence of one or more ribs.	68
Mitochondrial inheritance	A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).	29
Mitochondrial myopathy	A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers.	64
Mitochondrial swelling	The mitochondrial matrix refers to the substance occupying the space enclosed by the inner membrane of a mitochondrion, which contains enzymes, DNA, granules, and inclusions of protein crystals, glycogen, and lipid. Mitochondrial swelling refers to an increase in size of the mitochondrial matrix. This phenomenon is thought to be related to a permeabilized inner membrane that originates a large swelling in the mitochondrial matrix. Mitochondrial swelling may distend the outer membrane until it ruptures.	4
Mitral atresia	A congenital defect with failure to open of the mitral valve orifice.	13
Mitral regurgitation	An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.	161
Mitral stenosis	An abnormal narrowing of the orifice of the mitral valve.	25
Mitral valve calcification	Abnormal calcification of the mitral valve.	7
Mitral valve prolapse	One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.	123
Mitten deformity	'Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a \''mitten\'' hand deformity.'	9
Mixed hearing impairment	A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.	40
Mizuo phenomenon	Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration .	3
Moderate albuminuria	The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol).	10
Moderate global developmental delay	A moderate delay in the achievement of motor or mental milestones in the domains of development of a child.	28
Moderate myopia	A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters.	7
Moderate receptive language delay	A moderate delay in the acquisition of the ability to understand the speech of others.	3
Moderately reduced visual acuity	Moderate reduction of the ability to see. On the 6m visual acuity scale, moderate reduction is defined as less than 6/18 but at least 6/60. On the 20ft visual acuity scale, moderate reduction is defined as less than 20/70 but at least 20/200. On the decimal visual acuity scale, moderate reduction is defined as less than 0.3 but at least 0.1.	8
Moderately short stature	A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex.	5
Molar tooth sign on MRI	An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth.	40
Molluscoid pseudotumors	Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees.	7
Molluscum contagiosum	Molluscum contagiosum is a cutaneous viral infection that is commonly observed in both healthy and immunocompromised children. The infection is caused by a member of the Poxviridae family, the molluscum contagiosum virus. Molluscum contagiosum presents as single or multiple small white or flesh-colored papules that typically have a central umbilication. The central umbilication may be difficult to observe in young children and, instead, may bear an appearance similar to an acneiform eruption. The lesions vary in size (from 1 mm to 1 cm in diameter) and are painless, although a subset of patients report pruritus in the area of infection. On average, 11-20 papules appear on the body during the course of infection and generally remains a self-limiting disease. However, in immunosuppressed patients, molluscum contagiosum can be a severe infection with hundreds of lesions developing on the body. Extensive eruption is indicative of an advanced immunodeficiency state.	8
Molybdenum cofactor deficiency	Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase.	3
Monkey wrench femoral neck	The femoral neck region shows medial metaphyseal beaking and a significant enlargement of the lesser trochanter (with some enlargement also of the greater trochanter), producing a monkey wrench (Swedish key) configuration of the proximal femur. A monkey wrench refers to a type of adjustable wrench with one fixed and one adjustable jaw at right angles to a straight handle.	3
Monocarboxylic aciduria	Level of a monocarboxylic acid in the urine above the upper limit of normal. A monocarboxylic acid is an oxoacid containing one carboxy group.	4
Monochromacy	Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray.	11
Monocytopenia	An decreased number of circulating monocytes.	6
Monocytosis	An increased number of circulating monocytes.	15
Monotonic speech	A speech pattern characterized by a persistently abnormal lack of tone in the voice. Monotonic speech is typically ongoing, lasting throughout the day, but may have a diurnal variation in the pattern, i.e. slower at specific times of the day.	8
Moon facies	A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin.	15
Morning glory anomaly	An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic.	6
Motor axonal neuropathy	Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg.	38
Motor deterioration	Loss of previously present motor (i.e., movement) abilities.	20
Motor neuron atrophy	Wasting involving the motor neuron.	66
Motor regression	Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones.	17
Motor stereotypy	Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.	258
Motor tics	Movement-based tics affecting discrete muscle groups.	11
Mottled pigmentation	Patchy and irregular skin pigmentation.	8
Moyamoya phenomenon	A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis.	15
Mucoid extracellular matrix accumulation	An increase of medial mucoid extracellular matrix creating translamellar and/or intralamellar expansions including extracellular pools as noted on an H&E stain and/or a stain to highlight extracellular matrix material (Movat's pentachrome, Alcian blue, etc.).	19
Mucopolysacchariduria	Excessive amounts of mucopolysaccharide in the urine.	22
Mucosal telangiectasiae	Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs.	41
Multicystic kidney dysplasia	Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.	98
Multiflagellar spermatozoa	Spermatozoa with multiple flagella attached to the sperm head.	3
Multifocal epileptiform discharges	An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci).	66
Multifocal hyperintensity of cerebral white matter on MRI	An abnormal area of increased brightness (hyperintensity) that occurs in several distinct areas.	3
Multifocal seizures	Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations).	22
Multinodular goiter	Enlargement of the thyroid gland related to multiple nodules in the thyroid gland.	7
Multiple bladder diverticula	Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder.	5
Multiple cafe-au-lait spots	The presence of six or more cafe-au-lait spots.	64
Multiple central nervous system lipomas	The presence of multiple lipomas located in the central nervous system.	4
Multiple exostoses	Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.	8
Multiple glomerular cysts	The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule.	14
Multiple impacted teeth	The presence of multiple impacted teeth.	5
Multiple joint dislocation	Dislocation of many joints.	8
Multiple lentigines	Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots.	15
Multiple lipomas	The presence of multiple lipomas (a type of benign tissue made of fatty tissue).	37
Multiple long-bone exostoses	Multiple exostoses originating in long bones.	3
Multiple mitochondrial DNA deletions	The presence of multiple deletions of mitochondrial DNA (mtDNA).	11
Multiple muscular ventricular septal defects	A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum.	3
Multiple myeloma	A malignant plasma cell tumor growing within soft tissue or within the skeleton.	7
Multiple prenatal fractures	The presence of bone fractures in the prenatal period that are diagnosed at birth or before.	18
Multiple pulmonary cysts	The presence of multiple lung cysts.	21
Multiple renal cysts	The presence of many cysts in the kidney.	73
Multiple rib fractures	More than one fracture of the ribs. Callus formation around multiple rib fractures can produce a row of multiple rounded expansions (beadlike prominences) giving the appearance of beaded ribs. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib.	11
Multiple small medullary renal cysts	The presence of many cysts in the medulla of the kidney.	4
Multiple suture craniosynostosis	Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified.	12
Multiple unerupted teeth	The presence of multiple embedded tooth germs which have failed to erupt.	3
Muscle fiber cytoplasmatic inclusion bodies	The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.	32
Muscle fiber necrosis	Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers.	15
Muscle fiber splitting	Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches.	23
Muscle fiber tubular inclusions	Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities.	8
Muscle fibrillation	Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole as ascertained by electromyography (EMG). If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG.	97
Muscle flaccidity	A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation.	15
Muscle hypertrophy of the lower extremities	Muscle hypertrophy primarily affecting the legs.	53
Muscle spasm	Sudden and involuntary contractions of one or more muscles.	177
Muscle stiffness	A condition in which muscles cannot be moved quickly without accompanying pain or spasm.	83
Muscular dystrophy	The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.	80
Muscular ventricular septal defect	The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle.	26
Mutism	Complete lack of speech or verbal communication in a person despite attempts to engage in conversation. Mutism as a phenomena assumes the individual has previous capacity for speech and in the pediatric population it assumes that the person is past the age of typical language development.	56
Myalgia	Pain in muscle.	187
Mydriasis	Abnormal dilatation of the iris.	16
Myelin outfoldings	The presence of excessive redundant myelin in the peripheral nerve sheath.	7
Myelin tomacula	The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage).	4
Myelodysplasia	Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.	113
Myelofibrosis	Replacement of bone marrow by fibrous tissue.	13
Myeloid leukemia	A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow.	31
Myelomeningocele	Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.	23
Myeloproliferative disorder	Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential.	16
Myocardial fibrosis	Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts.	19
Myocardial infarction	Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.	111
Myocardial necrosis	Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction).	4
Myocardial steatosis	Steatosis in the myocardium.	6
Myocarditis	Inflammation of the myocardium.	22
Myoclonic absence seizure	Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterized by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017.	14
Myoclonic seizure	A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.	256
Myoclonic status epilepticus	A type of motor status epilepticus with repeating bilateral sudden brief (less than 100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography.	5
Myofiber disarray	A nonparallel arrangement of cardiac myocytes.	12
Myofibrillar myopathy	Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins.	11
Myoglobinuria	Presence of myoglobin in the urine.	31
Myokymia	Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.	20
Myopathic facies	A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness.	55
Myopic astigmatism	A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest.	8
Myositis	A general term for inflammation of the muscles without respect to the underlying cause.	44
Myotonia	An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.	34
Myxomatous mitral valve degeneration	Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view.	3
NREM parasomnia	A parasomnia that occurs during non-rapid eye movement (NREM) sleep.	18
Naevus flammeus of the eyelid	Naevus flammeus localized in the skin of the eyelid.	7
Nail dysplasia	The presence of developmental dysplasia of the nail.	153
Nail dystrophy	Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.	144
Nail pits	Small (typically about 1 mm or less in size) depressions on the dorsal nail surface.	11
Nail pterygium	Inward advance of skin over the nail plate.	3
Nail-biting	Habitual biting of one's own fingernails.	7
Nailfold capillary tortuosity	An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels.	3
Narcolepsy	An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucinations, and sleep paralysis.	3
Narrow chest	Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.	132
Narrow face	Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).	107
Narrow foot	A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length.	6
Narrow foramen obturatorium	Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis.	6
Narrow forehead	Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).	181
Narrow greater sciatic notch	A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.	21
Narrow iliac wing	Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).	10
Narrow internal auditory canal	Reduction in diameter of the internal auditory canal.	16
Narrow jaw	Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective).	13
Narrow mouth	Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).	231
Narrow naris	Slender, slit-like aperture of the nostril.	9
Narrow nasal base	Decreased distance between the attachments of the alae nasi to the face.	3
Narrow nasal bridge	Decreased width of the bony bridge of the nose.	50
Narrow nasal ridge	Decreased width of the nasal ridge.	19
Narrow nasal tip	Decrease in width of the nasal tip.	3
Narrow nose	Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae.	28
Narrow palate	Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).	201
Narrow palm	For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length.	18
Narrow palpebral fissure	Reduction in the vertical distance between the upper and lower eyelids.	71
Narrow pelvis bone	Reduced side to side width of the pelvis.	8
Narrow vertebral interpedicular distance	A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.	14
Nasal congestion	Reduced ability to pass air through the nasal cavity often leading to mouth breathing.	55
Nasal flaring	Widening of the nostrils upon inhalation as a manifestation of respiratory distress.	4
Nasal mucosa telangiectasia	Telangiectasia of the nasal mucosa.	4
Nasal polyposis	Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis.	69
Nasal regurgitation	Regurgitation of milk through the nose.	14
Nasogastric tube feeding	The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food.	42
Nasogastric tube feeding in infancy	Feeding problem necessitating nasogastric tube feeding.	37
Nasolacrimal duct obstruction	Blockage of the lacrimal duct.	36
Natal tooth	A tooth present at birth or erupting within the first month of life.	38
Nausea	A sensation of unease in the stomach together with an urge to vomit.	99
Neck flexor weakness	Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).	46
Neck muscle weakness	Decreased strength of the neck musculature.	94
Neck pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck.	5
Necrotizing enterocolitis	Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine.	6
Negativism	Opposing or not responding to instructions or external stimuli.	10
Nemaline bodies	Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces.	19
Neonatal alloimmune thrombocytopenia	Low platelet count associated with maternal platelet-specific alloantibodies.	15
Neonatal asphyxia	Respiratory failure in the newborn.	14
Neonatal death	Death within the first 28 days of life.	91
Neonatal electro-clinical seizure	Neonatal electro-clinical seizure is an electrographic event occurring in neonatal period and coupled with a clinical manifestation.	5
Neonatal electro-clinical seizure with behavior arrest	Neonatal electro-clinical non-motor seizure with behavior arrest is a type of neonatal electro-clinical seizure characterized by an arrest of activities, freezing, immobilization, with or without apnea and/or other autonomic manifestations.	5
Neonatal hyperbilirubinemia	A type of hyperbilirubinemia with neonatal onset.	24
Neonatal hypotonia	Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.	199
Neonatal omphalitis	An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period.	10
Neonatal respiratory distress	Respiratory difficulty as newborn.	149
Neonatal seizure	A seizure occurring within the neonatal period (28 days beyond the full term date).	11
Neonatal seizure with electrographic correlate	Neonatal seizure is a seizure type that occurs in neonatal period and is characterized by an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end. This event can be associated or not with a clinical manifestation.	5
Neonatal sepsis	Systemic inflammatory response to infection in newborn babies.	4
Neonatal short-limb short stature	A type of short-limbed dwarfism that is manifest beginning in the neonatal period.	14
Neonatal short-trunk short stature	A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth.	3
Neoplasm of fatty tissue	A tumor (abnormal growth of tissue) of adipose tissue.	53
Neoplasm of head and neck	A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx.	37
Neoplasm of striated muscle	A benign or malignant neoplasm (tumor) originating in striated muscle, either skeletal muscle or cardiac muscle.	25
Neoplasm of the adrenal cortex	The presence of a neoplasm of the adrenal cortex.	27
Neoplasm of the adrenal gland	A tumor (abnormal growth of tissue) of the adrenal gland.	46
Neoplasm of the adrenal medulla	The presence of a neoplasm of the adrenal medulla.	18
Neoplasm of the anterior pituitary	A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.	65
Neoplasm of the autonomic nervous system	A tumor that arises from an element of the autonomic nervous system.	10
Neoplasm of the breast	A tumor (abnormal growth of tissue) of the breast.	90
Neoplasm of the central nervous system	A neoplasm of the central nervous system.	176
Neoplasm of the ear	A tumor (abnormal growth of tissue) of the ear.	29
Neoplasm of the endocrine system	A tumor (abnormal growth of tissue) of the endocrine system.	153
Neoplasm of the eye	A tumor (abnormal growth of tissue) of the eye.	49
Neoplasm of the gallbladder	The presence of a neoplasm of the gallbladder.	6
Neoplasm of the genitourinary tract	A tumor (abnormal growth of tissue) of the genitourinary system.	226
Neoplasm of the heart	A tumor (abnormal growth of tissue) of the heart.	15
Neoplasm of the inner ear	A tumor (abnormal growth of tissue) of the inner ear.	13
Neoplasm of the large intestine	The presence of a neoplasm of the large intestine.	114
Neoplasm of the liver	A tumor (abnormal growth of tissue) of the liver.	135
Neoplasm of the lung	Tumor of the lung.	64
Neoplasm of the male external genitalia	A tumor (abnormal growth of tissue) of the male external genitalia.	36
Neoplasm of the middle ear	A tumor (abnormal growth of tissue) of the middle ear.	12
Neoplasm of the nail	A tumor (abnormal growth of tissue) of the nail.	3
Neoplasm of the nervous system	A tumor (abnormal growth of tissue) of the nervous system.	193
Neoplasm of the nose	Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity.	3
Neoplasm of the oral cavity	A tumor (abnormal growth of tissue) of the oral cavity.	62
Neoplasm of the outer ear	A tumor (abnormal growth of tissue) of the outer ear.	4
Neoplasm of the pancreas	A tumor (abnormal growth of tissue) of the pancreas.	87
Neoplasm of the parathyroid gland	A tumor (abnormal growth of tissue) of the parathyroid gland.	19
Neoplasm of the peripheral nervous system	A benign or malignant neoplasm (tumor) of the peripheral nervous system.	70
Neoplasm of the posterior pituitary	The presence of a neoplasm (tumor) in the neurohypophysis, which is also known as the posterior lobe of the hypophysis.	11
Neoplasm of the respiratory system	A tumor (abnormal growth of tissue) of the respiratory system.	77
Neoplasm of the skeletal system	A tumor (abnormal growth of tissue) of the skeleton.	106
Neoplasm of the skin	A tumor (abnormal growth of tissue) of the skin.	219
Neoplasm of the small intestine	The presence of a neoplasm of the small intestine.	18
Neoplasm of the stomach	A tumor (abnormal growth of tissue) of the stomach.	84
Neoplasm of the thymus	A tumor (abnormal growth of tissue) of the thymus.	7
Neoplasm of the thyroid gland	A tumor (abnormal growth of tissue) of the thyroid gland.	87
Neoplasm of the tongue	A tumor (abnormal growth of tissue) of the tongue.	42
Nephritis	The presence of inflammation affecting the kidney.	139
Nephroblastoma	The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.	47
Nephrocalcinosis	Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.	100
Nephrogenic diabetes insipidus	A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP).	8
Nephrolithiasis	The presence of calculi (stones) in the kidneys.	141
Nephronophthisis	Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis.	37
Nephropathy	A nonspecific term referring to disease or damage of the kidneys.	105
Nephrotic range proteinuria	Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children.	4
Nephrotic syndrome	Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.	138
Nervous tissue neoplasm	A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system).	92
Neuralgia	Pain (An unpleasant sensory and emotional experience) along the course of a nerve.	13
Neuroblastic tumor	A family of tumors arising in the embryonal remnants of the sympathetic nervous system, which includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma.	61
Neuroblastoma	Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum.	61
Neurodegeneration	Progressive loss of neural cells and tissue.	85
Neuroectodermal neoplasm	A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells.	92
Neuroendocrine neoplasm	A tumor that originates from a neuroendocrine cell.	38
Neuroepithelial neoplasm	A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium.	91
Neurofibrillary tangles	Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.	23
Neurofibroma	A benign peripheral nerve sheath tumor that generally appears as a soft, skin-colored papule or small subcutaneous nodule. Individuals with neurofibromatosis can have numerous neurofibromas.	19
Neurofibrosarcoma	A form of malignant cancer of the connective tissue surrounding nerves. Given its origin and behavior, it is classified as a sarcoma.	4
Neurogenic bladder	A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention.	66
Neuroinflammation	Activation of the brain's innate immune system in response to an inflammatory challenge and is characterized by a host of cellular and molecular changes within the brain.	23
Neuroma	A tumor made up of nerve cells and nerve fibers.	6
Neuronal loss in basal ganglia	A reduction in the number of nerve cells in the basal ganglia.	4
Neuropathic spinal arthropathy	A progressive disorder of vertebral joint degeneration that occurs in the setting of any condition characterized by decreased afferent innervation, involving loss of deep pain and proprioceptive sensation in the vertebral column. Patients most commonly present with symptoms of lower back pain, sitting imbalance, progressive spinal deformity (usually kyphosis), and an audible clicking sound on changing postures.	23
Neutropenia	An abnormally low number of neutrophils in the peripheral blood.	210
Neutropenia in presence of anti-neutropil antibodies	A type of neutropenia that is observed in the presence of granulocyte-specific antibodies.	22
Neutrophilia	Increased number of neutrophils circulating in blood.	23
Neutrophilic infiltration of the skin	A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin).	6
Nevus	A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.	169
Nevus flammeus	A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin.	56
Nevus flammeus of the forehead	Naevus flammeus localized in the skin of the forehead.	8
Nevus sebaceous	A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly.	5
Nevus spilus	A tan, regularly bordered patch with darker macules within the lesion.	3
Night sweats	Occurrence of excessive sweating during sleep.	18
No social interaction	Lack of intentional participation in interactions with another person.	6
Nocturia	Abnormally increased production of urine during the night leading to an unusually frequent need to urinate.	17
Nocturnal hypoventilation	An abnormal reduction in alveolar ventilation occurring during sleep. This is characterized by a rise in arterial carbon dioxide.	16
Nocturnal lagophthalmos	The inability to close the eyelids during sleep.	7
Nocturnal seizures	Seizures that occur while the affected individual is sleeping.	18
Nodular changes affecting the eyelids	Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more.	28
Nodular goiter	Enlargement of the thyroid gland related to one or more nodules in the thyroid gland.	13
Nodular pattern on pulmonary HRCT	A nodular pattern is characterized on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter.	3
Nodular regenerative hyperplasia of liver	Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis.	6
Non-Hodgkin lymphoma	A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells.	40
Non-Mendelian inheritance	A mode of inheritance that depends on genetic determinants in more than one gene.	92
Non-convulsive status epilepticus without coma	A type of status epilepticus without prominent motor symptoms in the absence of coma.	20
Non-infectious meningitis	Inflammation of the layers of tissue that cover the brain and spinal cord (meninges) and of the fluid-filled space between the meninges (subarachnoid space) when it is caused by disorders that are not infections or by drugs or vaccines.	15
Non-midline cleft of the upper lip	Clefting (gap or groove) of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region.	40
Non-motor seizure	A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown.	190
Non-obstructive azoospermia	Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.	63
Noncommunicating hydrocephalus	A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed.	8
Noncompaction cardiomyopathy	A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber.	17
Nongranulomatous uveitis	A form of uveitis that is not associated with the formation of granulomas.	16
Nonimmune hydrops fetalis	A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens .	64
Nonproductive cough	A cough that does not produce phlegm or mucus.	6
Nonprogressive	Applies to a disease manifestation that does not increase in scope or severity over the course of time, i.e., that does not worsen with age.	21
Nonprogressive restrictive external ophthalmoplegia	Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited.	6
Nonspecific interstitial pneumonia	Temporally uniform (all lesions are in the same stage of evolution) pattern of diffuse inflammatory interstitial process, mostly symmetric over the entire lung, involving mainly the alveolar septa.	3
Nontuberculous mycobacterial pulmonary infection	An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease.	21
Normal interictal EEG	Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis.	6
Normal pressure hydrocephalus	A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture.	6
Normocytic anemia	A kind of anemia in which the volume of the red blood cells is normal.	17
Nuchal rigidity	Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated.	12
Nuclear cataract	A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown.	28
Nuclear pulverulent cataract	A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus.	4
Nummular pigmentation of the fundus	Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium.	4
Nyctalopia	Inability to see well at night or in poor light.	223
Nystagmus-induced head nodding	Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision.	19
Obsessive-compulsive trait	The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant.	33
Obstructive azoospermia	Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.	35
Obstructive sleep apnea	Obstructive Sleep Apnea is a condition characterized by the obstruction of the airway and pauses in breathing during sleep, which occur multiple times throughout the night. It is related to the relaxation of muscle tone that typically happens during sleep, leading to a partial collapse of the soft tissues in the airway and causing airflow obstruction.	79
Obtuse angle of mandible	Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal.	3
Occipital cortical atrophy	Atrophy of the occipital cortex.	5
Occipital encephalocele	A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.	38
Occipital meningocele	A herniation of meninges through a congenital bone defect in the skull in the occipital region.	8
Ocular albinism	An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.	29
Ocular flutter	Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behavior and its occurrence may be favored by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation.	6
Ocular hypertension	Intraocular pressure that is 2 standard deviations above the population mean.	37
Ocular pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye.	20
Oculogyric crisis	An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications.	13
Oculomotor apraxia	Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex.	115
Oculomotor nerve palsy	Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve).	29
Odontogenic keratocysts of the jaw	A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behavior.	3
Odontogenic neoplasm	Neoplasm involving odontogenic cells, an odontogenic tumor.	8
Oligoarthritis	A type of arthritis that affects up to four joints in the first six months of disease.	13
Oligodactyly	A developmental defect resulting in the presence of fewer than the normal number of digits.	30
Oligodontia	The absence of six or more teeth from the normal series by a failure to develop.	65
Oligohydramnios	Diminished amniotic fluid volume in pregnancy.	189
Oligomenorrhea	Infrequent menses (less than 6 per year or more than 35 days between cycles).	46
Oligosacchariduria	Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins.	11
Oligozoospermia	Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.	59
Oliguria	Low output of urine, clinically classified as an output below 300-500ml/day.	17
Olivopontocerebellar atrophy	Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus.	7
Olivopontocerebellar hypoplasia	Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus.	13
Omphalocele	A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord.	82
Onion bulb formation	Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.	30
Onychogryposis	Nail that appears thick when viewed on end.	29
Onychogryposis of fingernail	Thickened fingernails.	9
Onychogryposis of toenails	Thickened toenails.	7
Onycholysis	Detachment of the nail from the nail bed.	21
Onychomycosis	A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split.	22
Onychotillomania	Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails.	4
Oocyte arrest at metaphase I	Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage.	5
Oocyte maturation arrest	Oocyte maturation arrest (OMA) can manifest as failed in vitro fetilization/intracytoplasmic sperm injection (IVF/ICSI) attempts using affected oocytes.	6
Opacification of the corneal epithelium	Lack of transparency of the corneal epithelium.	4
Opacification of the corneal stroma	Reduced transparency of the stroma of cornea.	92
Open angle glaucoma	A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure,	12
Open bite	Visible space between the dental arches in occlusion.	61
Open mouth	A facial appearance characterized by a permanently or nearly permanently opened mouth.	123
Open neural tube defect	A type of neural tube defect that is not covered by skin.	146
Open operculum	Underdevelopment of the operculum.	6
Ophthalmoparesis	Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.	299
Ophthalmoplegia	Paralysis of one or more extraocular muscles that are responsible for eye movements.	260
Opportunistic bacterial infection	An infection that is caused by a bacterium that would generally not be able to cause an infection in a host with a normal immune system. Such bacteria take advantage of the opportunity, so to speak, that is provided by a weakened immune system.	28
Opportunistic fungal infection	An infection that is caused by a fungus that would generally not be able to cause an infection in a host with a normal immune system. Such fungi take advantage of the opportunity, so to speak, that is provided by a weakened immune system.	18
Opportunistic infection	An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system.	52
Opsoclonus	Bursts of large-amplitude multidirectional saccades without intersaccadic interval	13
Optic disc coloboma	A cleft of the optic nerve that extends inferiorly.	28
Optic disc drusen	Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve.	12
Optic disc hypoplasia	Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve.	20
Optic disc pallor	A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.	251
Optic nerve aplasia	Congenital absence of the optic nerve.	3
Optic nerve dysplasia	The presence of developmental dysplasia of the optic nerve.	7
Optic nerve glioma	A glioma originating in the optic nerve or optic chiasm.	5
Optic nerve hypoplasia	Underdevelopment of the optic nerve.	107
Optic nerve misrouting	Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp).	5
Optic neuritis	Inflammation of the optic nerve.	23
Optically empty vitreous	Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernible gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity.	3
Oral aversion	Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing).	17
Oral cavity bleeding	Recurrent or excessive bleeding from the mouth.	21
Oral cavity telangiectasia	Presence of telangiectases in the oral cavity.	6
Oral leukoplakia	A thickened white patch on the oral mucosa that cannot be rubbed off.	28
Oral motor hypotonia	Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior.	3
Oral mucosal blisters	Blisters arising in the mouth.	14
Oral synechia	Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges.	3
Oral ulcer	Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.	71
Orbital cyst	Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium).	4
Orchitis	Testicular inflammation.	16
Organic aciduria	Excretion of non-amino organic acids in urine.	119
Ornithinuria	Level of ornithine in the urine above the upper limit of normal.	4
Oromandibular dystonia	A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech.	21
Oromotor apraxia	Oral-motor apraxia is the inability to volitionally sequence oral movements of the speech structure for nonspeech tasks in the absence of neuromuscular deficits such as paralysis or muscle weakness. Oral-motor apraxia is diagnosed when, despite intact sensory motor function an individual is unable to use these effector systems under voluntary control.	27
Oropharyngeal squamous cell carcinoma	A squamous cell carcinoma that originates in the oropharnyx.	7
Oroticaciduria	An increased concentration of orotic acid in the urine.	9
Orthodeoxia	Low level of blood oxygen induced by changing from a recumbent to an upright position.	14
Orthokeratosis	Formation of an anuclear keratin layer	20
Orthokeratotic hyperkeratosis	A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei.	7
Orthopnea	A sensation of breathlessness in the recumbent position, relieved by sitting or standing.	107
Orthostatic hypotension	A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.	41
Osseous finger syndactyly	Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones.	6
Osteoarthritis	Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity.	64
Osteochondritis dissecans	A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage.	7
Osteochondroma	A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone.	8
Osteochondrosis	Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification.	12
Osteolysis	Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.	82
Osteolysis involving tarsal bones	An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones.	3
Osteolytic defects of the phalanges of the hand	Dissolution or degeneration of bone tissue of the phalanges of the hand.	19
Osteomalacia	Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.	27
Osteomyelitis	Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.	66
Osteopathia striata	A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance.	5
Osteopetrosis	Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal.	19
Osteoporosis of vertebrae	Osteoporosis affecting predominantly the vertebrae.	20
Osteosarcoma	A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.	37
Osteosclerosis of the base of the skull	An increase in bone density affecting the basicranium (base of the skull).	4
Otitis externa	Inflammation or infection of the external auditory canal (EAC), the auricle, or both.	3
Otosclerosis	In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss.	7
Oval face	A face with a rounded and slightly elongated outline.	16
Ovarian carcinoma	A malignant neoplasm originating from the surface ovarian epithelium.	14
Ovarian cyst	The presence of one or more cysts of the ovary.	118
Ovarian dermoid cyst	An cystic ovarian teratoma composed of dermal and epidermal elements and containing tissue components including hair, teeth, bone, thyroid, and others.	3
Ovarian fibroma	The presence of a fibroma of the ovary.	3
Ovarian gonadoblastoma	The presence of a gonadoblastoma of the ovary.	11
Ovarian neoplasm	A tumor (abnormal growth of tissue) of the ovary.	69
Ovarian serous cystadenoma	A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue.	4
Ovarian teratoma	The presence of a teratoma in the ovary.	3
Overfolded helix	A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.	82
Overfolding of the superior helices	A condition in which the superior portion of the helix is folded over to a greater degree than normal.	5
Overfriendliness	A form of hypersociability that presents as mostly inappropriate friendliness towards others.	26
Overgrowth	Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.	46
Overhanging nasal tip	Positioning of the nasal tip inferior to the nasal base.	8
Overlapping fingers	A finger resting on the dorsal surface of an adjacent digit when the hand is at rest.	34
Overlapping toe	Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent.	71
Overriding aorta	An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle.	27
Overtubulated long bones	Overconstriction, or narrowness of the diaphysis and metaphysis of long bones.	6
Overweight	Increased body weight with a body mass index of 25-29.9 kg per square meter.	48
Ovoid vertebral bodies	When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval.	34
Ovotestis	A gonad that contains both ovarian follicles and testicular tubular elements.	7
Oxycephaly	Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull.	7
Pachygyria	Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.	162
Pain insensitivity	Inability to perceive painful stimuli.	29
Painless fractures due to injury	An increased tendency to fractures following trauma, with fractures occurring without pain.	8
Palatal tremor	Palatal tremor (PT) is an involuntary, rhythmic and oscillatory movement of the soft palate. PT is a rare type of tremor involving the soft palate. It can be unilateral or bilateral.	3
Palate fistula	A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate.	13
Palilalia	Palilalia is the involuntary repetition of one's own phrases, words, or syllables 2 or more times in a row. Typically, palilalic utterances decrease in volume with the increasing number of repetitions. Sometimes, the repetitions are also uttered with an accelerating speed.	3
Pallor	Abnormally pale skin.	155
Palmar hyperkeratosis	Abnormal thickening of the skin localized to the palm of the hand.	131
Palmar hyperlinearity	Exaggerated skin markings (dermatoglyphics) on the palms of the hand.	7
Palmar pruritus	Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand.	5
Palmar telangiectasia	The presence of telangiectases on the skin of palm of hand.	7
Palmoplantar blistering	A type of blistering that affects the skin of the palms of the hands and the soles of the feet.	11
Palmoplantar cutis laxa	Loose, wrinkled skin of hands and feet.	9
Palmoplantar erythema	Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin.	5
Palmoplantar hyperhidrosis	An abnormally increased perspiration on palms and soles.	14
Palmoplantar hyperkeratosis	Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.	129
Palmoplantar keratoderma	Abnormal thickening of the skin of the palms of the hands and the soles of the feet.	113
Palmoplantar pustulosis	A chronic, relapsing, pustular eruption that is localized to the palms and soles.	3
Palmoplantar scaling skin	Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot.	3
Palpebral edema	Edema in the region of the eyelids.	39
Palpebral thickening	An increased thickness of the eyelid not related to acute inflammation.	5
Palpitations	A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.	106
Pancolitis	Inflammation of the entire colon.	4
Pancreatic adenocarcinoma	The presence of an adenocarcinoma of the pancreas.	33
Pancreatic aplasia	Aplasia of the pancreas.	6
Pancreatic calcification	The presence of abnormal calcium deposition lesions in the pancreas.	9
Pancreatic cysts	A cyst of the pancreas that possess a lining of mucous epithelium.	36
Pancreatic endocrine tumor	A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas.	13
Pancreatic hyperplasia	Hyperplasia of the pancreas.	4
Pancreatic hypoplasia	Hypoplasia of the pancreas.	24
Pancreatic islet cell adenoma	The presence of an adenoma of the pancreas with origin in a pancreatic B cell.	9
Pancreatic islet-cell hyperplasia	Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells.	12
Pancreatic pseudocyst	Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis.	5
Pancreatic squamous cell carcinoma	A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium.	3
Pancreatitis	The presence of inflammation in the pancreas.	100
Pancytopenia	An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).	128
Panhypogammaglobulinemia	A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes.	23
Panhypopituitarism	A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin).	30
Panic attack	A sudden episode of intense fear in a situation where there is no danger or apparent cause.	55
Panniculitis	Inflammation of subcutaneous adipose tissue.	28
Panuveitis	Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid.	16
Papillary cystadenoma of the epididymis	A cystadenoma, an epithelial tumor, that originates within the head of the epididymis.	5
Papillary renal cell carcinoma	The presence of renal cell carcinoma in the renal papilla.	8
Papillary thyroid carcinoma	The presence of a papillary adenocarcinoma of the thyroid gland.	24
Papilledema	Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.	27
Papilloma	A tumor of the skin or mucous membrane with finger-like projections.	53
Papule	A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.	100
Paraganglioma	A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation.	19
Parakeratosis	Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.	33
Paralysis	Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.	156
Paramedian lip pit	Depression located paramedially on the vermilion of a lip.	4
Paranoia	The feeling and belief that one is being targeted or is a focus of negative or untoward actions, overt or covert, from others. The affected individual expresses a concern that people are in general against the individual and are engaging in subtle behaviors to make things difficult for them. The origins of such thinking may arise from real events and become amplified over time. Paranoia may also arise in the absence of any action or interaction between the person and their environment.	24
Paraparesis	Weakness or partial paralysis in the lower limbs.	112
Paraplegia	Severe or complete weakness of both lower extremities with sparing of the upper extremities.	147
Paraplegia/paraparesis	Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength.	247
Paraproteinemia	An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells.	3
Parasomnia	An undesirable physical event or experience that occurs during the process of falling asleep, while asleep, or when waking up from sleep.	44
Parathormone-independent increased renal tubular calcium reabsorption	An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels.	3
Parathyroid adenoma	A benign tumor of the parathyroid gland that can cause hyperparathyroidism.	16
Parathyroid carcinoma	A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism.	7
Parathyroid dysgenesis	Abnormal embryonic development of the parathyroid gland.	4
Parathyroid hyperplasia	Hyperplasia of the parathyroid gland.	10
Parathyroid hypoplasia	Developmental hypoplasia of the parathyroid gland.	3
Paresthesia	Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.	130
Parietal bossing	Parietal bossing is a marked prominence in the parietal region.	8
Parietal cortical atrophy	Atrophy of the parietal cortex.	8
Parietal foramina	The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide.	14
Parkinsonism	Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.	137
Parkinsonism with favorable response to dopaminergic medication	Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication.	26
Paronychia	The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia).	16
Parotitis	Inflammation of the parotid gland.	5
Paroxysmal atrial fibrillation	Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.	23
Paroxysmal dyskinesia	Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks.	16
Paroxysmal dyspnea	A sudden attack of dyspnea that occurs while the affected person is at rest.	20
Paroxysmal dystonia	A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes.	20
Paroxysmal involuntary eye movements	Sudden-onset episode of abnormal, involuntary eye movements.	38
Paroxysmal supraventricular tachycardia	An episodic form of supraventricular tachycardia with abrupt onset and termination.	5
Paroxysmal ventricular tachycardia	Episodes of ventricular tachycardia that have a sudden onset and ending.	27
Paroxysmal vertigo	Paroxysmal episodes of vertigo.	19
Partial absence of cerebellar vermis	Congenital absence of a part of the vermis of cerebellum.	6
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine	A reduced ability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.	4
Partial absence of specific antibody response to tetanus vaccine	A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.	7
Partial absence of specific antibody response to unconjugated pneumococcus vaccine	A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.	7
Partial absence of thumb	The absence of a phalangeal segment of a thumb.	9
Partial agenesis of the corpus callosum	A partial failure of the development of the corpus callosum.	58
Partial albinism	Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs.	9
Partial anomalous pulmonary venous return	A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung.	10
Partial atrioventricular canal defect	A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices.	6
Partial duplication of the distal phalanges of the hand	A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.	6
Partial duplication of the phalanges of the 3rd finger	A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.	3
Partial duplication of the phalanx of hand	A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.	44
Partial duplication of thumb phalanx	A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.	42
Partially duplicated kidney	The presence of a partially duplicated kidney.	3
Past medical history	In a medical encounter, the physician generally will interview the patient about his or her current problem, and may perform additional testing. The past medical history (PMH) in contrast records information about the patient's medical, personal and family history that might be relevant to the presenting illness or to provide optimal clinical management. The PMH generally includes (if relevant) other major illnesses, hospitalizations, surgeries, injuries, allergies, gynecologic and obstetric history, family history, personal history including occupational history, alcohol and drug use, etc.	176
Patchy alopecia	Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches.	26
Patchy atrophy of the retinal pigment epithelium	Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas.	3
Patchy changes of bone mineral density	Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density).	5
Patchy demyelination of subcortical white matter	Patchy loss of myelin from nerve fibers in the central nervous system.	3
Patchy hypopigmentation of hair	Reduced pigmentation of hair in patches.	21
Patchy osteosclerosis	Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.	4
Patchy palmoplantar hyperkeratosis	A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected.	6
Patellar aplasia	Absence of the patella.	22
Patellar dislocation	The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.	71
Patellar hypoplasia	Underdevelopment of the patella.	15
Patellar subluxation	The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella.	7
Patent ductus arteriosus after birth at term	Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater.	6
Patent foramen ovale	Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.	132
Pathologic fracture	A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.	58
Pectoralis amyotrophy	Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor. This finding is often manifested by prominent axillary creases or double axillary creases.	6
Pectus carinatum	A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.	178
Pectus excavatum of inferior sternum	Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum.	6
Pedal edema	An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.	54
Peg-shaped maxillary lateral incisors	A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter	26
Pelvic bone exostoses	A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage.	3
Pelvic girdle amyotrophy	Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle.	5
Pelvic girdle muscle atrophy	Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles).	5
Pelvic girdle muscle weakness	Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.	50
Pelvic kidney	A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis.	38
Pelvic mass	An abnormal enlargement or swelling in the pelvic region.	3
Pendular nystagmus	Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.	45
Penile freckling	Multiple pigmented macules located on the skin of the penis.	6
Penile hypospadias	Location of the urethral opening on the inferior aspect of the penis.	4
Penoscrotal hypospadias	A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum.	11
Peptic ulcer	The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers.	37
Percussion myotonia	A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object).	10
Perianal abscess	The presence of an abscess located around the anus.	13
Perianal dermatitis	The presence of a rash (change of color and texture) of the perianal skin.	3
Perianal erythema	Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the anus.	3
Periarticular calcification	Calcified deposits in soft tissue structures outside a joint.	4
Periauricular skin pits	Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit.	66
Peribronchovascular interstitial thickening	Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography.	44
Pericallosal lipoma	Pericallosal lipomas are congenital soft masses of adipose cells encapsulated by a thin layer of fibrous tissue, appearing adjacent to the corpus callosum of the brain.	3
Pericardial effusion	Accumulation of fluid within the pericardium.	43
Pericarditis	Inflammation of the sac-like covering around the heart (pericardium).	40
Perifollicular hyperkeratosis	Increased amount of keratin (visible as white scales) surrounding hair follicles.	4
Perimembranous ventricular septal defect	A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs.	25
Perineal fistula	The presence of a fistula between the bowel and the perineum.	14
Perineal hypospadias	Hypospadias with location of the urethral meatus in the perineal region.	5
Perinuclear antineutrophil antibody positivity	The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils.	11
Periodic fever	Episodic fever that recurs at regular intervals.	4
Periodic hyperkalemic paralysis	Episodes of muscle weakness associated with elevated levels of potassium in the blood.	3
Periodic hypokalemic paresis	Episodes of muscle weakness associated with reduced levels of potassium in the blood.	9
Periodic paralysis	Episodes of muscle weakness.	11
Periodontitis	Inflammation of the periodontium.	37
Perioral erythema	Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth.	4
Periorbital ecchymosis with tarsal plate sparing	Subcutaneous bleeding with a diameter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate.	6
Periorbital edema	Edema affecting the region situated around the orbit of the eye.	106
Periorbital fullness	Increase in periorbital soft tissue.	45
Periorbital hyperpigmentation	Increased pigmentation of the skin in the region surrounding the orbit of the eye.	4
Periorificial hyperkeratosis	Scaling and overgrowth of horny tissue of the skin surrounding body orifices (including peri-auricular, peri-oral, peri-anal areas.	3
Peripapillary atrophy	Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve.	14
Peripapillary chorioretinal atrophy	Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head).	5
Peripheral arterial stenosis	Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication.	33
Peripheral axonal atrophy	Atrophic changes of axons of the peripheral nervous system.	4
Peripheral axonal degeneration	Progressive deterioration of peripheral axons.	213
Peripheral axonal neuropathy	An abnormality characterized by disruption of the normal functioning of peripheral axons.	181
Peripheral cyanosis	Bluish discoloration of the distal extremities (hands, fingertips, toes), and can sometimes involve circumoral and periorbital areas. Mucous membranes are generally not involved.	38
Peripheral demyelination	A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.	53
Peripheral dysmyelination	Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination.	4
Peripheral edema	An abnormal accumulation of interstitial fluid in the soft tissues of the limbs.	11
Peripheral hypermyelination	Increased amount of peripheral myelination.	9
Peripheral hypomyelination	Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system.	9
Peripheral opacification of the cornea	Reduced transparency of the peripheral region of the cornea.	17
Peripheral primitive neuroectodermal neoplasm	A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone.	62
Peripheral pulmonary artery stenosis	Stenosis of a peripheral branch of the pulmonary artery.	38
Peripheral schwannoma	The presence of a peripheral schwannoma.	4
Peripheral visual field loss	Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.	101
Periportal fibrosis	The presence of fibrosis affecting the interlobular stroma of liver.	10
Perisylvian polymicrogyria	Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly.	34
Perisylvian predominant thick cortex pachygyria	Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.	3
Peritoneal abscess	The presence of an abscess of the peritoneum.	11
Peritoneal effusion	An increase in the amount of fluid present in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).	3
Peritonitis	Inflammation of the peritoneum.	44
Periventricular heterotopia	A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass.	42
Periventricular leukomalacia	Periventricular leukomalacia is characterized by diffuse injury of deep cerebral white matter, accompanied in its most severe form by focal necrosis. The neuropathologic hallmarks of PVL are microglial activation and focal and diffuse periventricular depletion of premyelinating oligodendroglia.	47
Periventricular nodular heterotopia	Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple.	18
Periventricular white matter hyperintensities	Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.	24
Permanent atrial fibrillation	Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent.	9
Peroneal muscle atrophy	Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius).	12
Peroneal muscle weakness	Weakness of the peroneal muscles.	8
Perseverative thought	The repetitive production of the same response to different commands.	20
Persistence of hemoglobin F	Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent.	37
Persistence of primary teeth	Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth.	27
Persistent CMV viremia	Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation.	6
Persistent EBV viremia	Persistent presence of Epstein-Barr virus in the blood.	14
Persistent head lag	The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes.	32
Persistent left superior vena cava	A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress.	76
Persistent open anterior fontanelle	The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age.	8
Persistent pupillary membrane	The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil.	10
Persistent viremia	Persistence of virus in the blood circulation longer than would be normal in an immunocompetent host.	18
Personality changes	An abnormal shift in patterns of thinking, acting, or feeling.	51
Personality disorder	A personality disorder is a deeply ingrained pattern of behavior of a specified kind that deviates markedly from the norms of generally accepted behavior. It is typically apparent by the time of adolescence and causes long-term difficulties in personal relationships or functioning in society.	18
Pes valgus	An outward deviation of the foot at the talocalcaneal or subtalar joint.	56
Petechiae	Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.	62
Peters anomaly	A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity.	25
Phakodonesis	Tremulousness (trembling) of the lens of the eye.	3
Phalangeal cone-shaped epiphyses	Cone-shaped epiphyses of the phalanges of the hands or feet. Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.	32
Phantosmia	Perception of an odor in the absence of any stimuli in the surrounding environment that could emit the odor.	3
Pharyngeal edema	Abnormal accumulation of fluid leading to swelling of the pharynx.	3
Pharyngitis	Inflammation (due to infection or irritation) of the pharynx.	17
Phenotypic variability	A variability of phenotypic features.	84
Pheochromocytoma	Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines.	28
Phimosis	The male foreskin cannot be fully retracted from the head of the penis.	12
Phobia	Extreme, irrational, and persistent fears of certain objects, situations, activities, or persons can impede functioning in day-to-day life.	3
Phocomelia	Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).	8
Phonic tics	Tics are defined as movements or sounds that resemble physiological motor behaviors, but are typically inopportune to social context and appear sudden, repetitive, and often exaggerated. Tic vocalizations commonly termed vocal or phonic tics may include any possible sound (eg, sniffing, coughing, throat clearing, whistling, or grunting), word, or sentence and are most commonly encountered within the spectrum of primary tic disorders, as Tourette syndrome.	5
Phonophobia	An abnormally heightened sensitivity to loud sounds.	26
Photophobia	Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.	278
Photopsia	Perceived flashes of light.	95
Photoreceptor layer loss on macular OCT	Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography.	5
Photosensitive myoclonic seizure	Generalised myoclonic seizure provoked by flashing or flickering light.	8
Photosensitive tonic-clonic seizure	Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light.	15
Phthisis bulbi	Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease.	17
Physical urticaria	Urticaria caused by physical agents, such as heat, cold, light, friction.	15
Pica	An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month.	8
Pierre-Robin sequence	Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.	34
Piezogenic pedal papules	Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum.	4
Pigment gallstones	Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration.	3
Pigmentary retinopathy	An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.	210
Pili canaliculi	A characteristic triangular, kidney- or heat-shaped diameter of hair shafts with typical longitudinal canalicular deformation as observable by scanning electron microscopy.	5
Pili torti	Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.	16
Pill-rolling tremor	A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other.	8
Pilomatrixoma	Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm.	9
Pilonidal sinus	A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris.	3
Pineal cyst	A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland.	9
Pituitary adenoma	A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary).	52
Pituitary corticotropic cell adenoma	A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH).	12
Pituitary dwarfism	A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones.	10
Pituitary gonadotropic cell adenoma	A type of pituitary adenoma that produces gonadotropins.	5
Pituitary growth hormone cell adenoma	A type of pituitary adenoma that produces growth hormone.	17
Pituitary hypothyroidism	A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion.	38
Pituitary null cell adenoma	A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess.	5
Pituitary prolactin cell adenoma	A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women.	8
Pituitary thyrotropic cell adenoma	A type of pituitary adenoma that produces thyroid stimulating hormone (TSH).	5
Placental abruption	Separation of the placenta from the uterus wall before delivery.	5
Placental mesenchymal dysplasia	Placental mesenchymal dysplasia is a rare anomaly characterized by placentomegaly, dilatation of chorionic vessels and hydropic stem villi with cistern-like formation. It is often clinically mistaken for a partial hydatidiform mole but there is no trophoblastic proliferation. P57 immunohistochemical expression is discordant, showing a normal positive expression in the cytotrophoblastic cells, and loss of expression in the stromal cells.	4
Plagiocephaly	Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.	154
Plantar hyperkeratosis	Hyperkeratosis affecting the sole of the foot.	132
Plantar pits	The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot.	4
Plantar warts	Multiple verrucous lesions on the skin of the sole of the foot. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV).	3
Platelet anisocytosis	Abnormally increased variability in the size of platelets.	4
Platelet antibody positive	The presence in the serum of autoantibodies directed against thrombocytes.	3
Platybasia	A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base.	17
Platyspondyly	A flattened vertebral body shape with reduced distance between the vertebral endplates.	124
Pleural effusion	The presence of an excessive amount of fluid in the pleural cavity.	89
Pleural thickening	An increase in the thickness of the pleura, generally related to scarring of the pleural tissue.	3
Pleuritis	Inflammation of the pleura.	28
Pneumocystis carinii pneumonia	Pneumocystis carinii pneumonia is an opportunistic infection that occurs in immunosuppressed populations.	4
Pneumocystis jirovecii pneumonia	An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing.	5
Pneumothorax	Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung.	77
Podocyte foot process effacement	An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier.	10
Poikilocytosis	The presence of abnormally shaped erythrocytes.	62
Poikiloderma	Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.	24
Pointed chin	A marked tapering of the lower face to the chin.	137
Polar cataract	A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens.	18
Poliosis	Circumscribed depigmentation of the hair of the head or the eyelashes.	3
Pollakisuria	Increased frequency of urination.	8
Polyclonal elevation of IgM	A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis.	6
Polycystic kidney dysplasia	The presence of multiple cysts in both kidneys.	54
Polycythemia	Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.	34
Polydactyly	A congenital anomaly characterized by the presence of supernumerary fingers or toes.	265
Polydipsia	Excessive thirst manifested by excessive fluid intake.	53
Polyembolokoilamania	Habitual insertion of foreign bodies into bodily orifices.	5
Polygenic inheritance	A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.	33
Polymicrogyria	Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).	201
Polymorphic ventricular tachycardia	A type of ventricular tachycardia that is characterized by variable QRS complexes within each lead (i.e., QRS complexes may be different from beat to beat).	10
Polyneuropathy	A generalized disorder of peripheral nerves.	60
Polyphagia	A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.	76
Polysplenia	Polysplenia is a congenital disease manifested by multiple small accessory spleens.	60
Polyuria	An increased rate of urine production.	40
Pontocerebellar atrophy	Atrophy affecting the pons and the cerebellum.	9
Poor appetite	A reduced desire to eat.	51
Poor fine motor coordination	An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes.	66
Poor gross motor coordination	An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts.	19
Poor head control	Difficulty to maintain correct position of the head while standing or sitting. Infant head lag is observed when the head seems to flop around or lags posteriorly behind the trunk. Several articles have maintained that head lag should be absent by age 3 to 4 months.	235
Poor suck	An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.	149
Poor visual behavior for age	Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behavior fails to meet normal developmental milestones.	3
Poor wound healing	A reduced ability to heal cutaneous wounds.	51
Poorly ossified vertebrae	Decreased ossification of the vertebral bodies.	3
Popcorn calcification	Popcorn calcifications are areas of amorphous calcifications often with rings and arcs that resemble popped corn kernels in the metaphysis and epiphysis around the growth plate.	3
Popliteal pterygium	A pterygium (or pterygia) occurring in the popliteal region (the back of the knee).	8
Porencephalic cyst	A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system.	32
Porokeratosis	A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella.	8
Porphyrinuria	Abnormally increased excretion of porphyrins in the urine.	8
Portal fibrosis	Fibroblast proliferation and fiber expansion from the portal areas to the lobule.	16
Portal hypertension	Increased pressure in the portal vein.	77
Portal inflammation	Infiltration of portal fields by inflammatory cells.	5
Portal vein thrombosis	Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins.	11
Positive Romberg sign	The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.	30
Positive blood infectious agent test	Any kind of test for an infectious agent in the blood circulation positive.	19
Positive direct antiglobulin test	A positive result of the direct antiglobulin test (DAT), a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction.	3
Positive infectious agent test	Any kind of test for an infectious agent in a specimen positive.	20
Positive pathergy test	With the pathergy test, a small, sterile needle is inserted into the skin of the forearm. The site of injectionis circuled and observed after one and two days. If a small red bump or pustule at the site of needle insertion occurs, the pathergy test is considered to have a positive (abnormal) result.	15
Positive perchlorate discharge test	An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficient time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate discharge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid.	6
Positive regitine blocking test	A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension.	17
Post-partum hemorrhage	Significant maternal hemorrhage/blood loss following deilvery of a child.	14
Post-vaccination measles	Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases.	3
Postauricular pit	Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit.	4
Postauricular skin tag	A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear).	3
Postaxial foot polydactyly	Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.	70
Postaxial hand polydactyly	Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).	92
Postaxial polydactyly	A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.	144
Posterior Y-sutural cataract	A type of sutural cataract in which the opacity follows the posterior Y suture.	3
Posterior blepharitis	A type of blepharitis that affects the meibomian glands and meibomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia.	7
Posterior cortical cataract	A cataract that affects the posterior part of the cortex of the lens.	3
Posterior embryotoxon	A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.	57
Posterior fossa cyst	A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle.	18
Posterior helix pit	Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated.	8
Posterior pituitary dysgenesis	Abnormal development of the neurohypophysis during embryonic growth and development.	24
Posterior plagiocephaly	Asymmetry of the posterior part of the skull.	7
Posterior polar cataract	A polar cataract that affects the posterior pole of the lens.	8
Posterior rib cupping	Wide, concave posterior rib end.	5
Posterior rib fusion	Complete or partial merging of the posterior part of adjacent ribs.	3
Posterior scalloping of vertebral bodies	An excessive concavity of the posterior surface of one or more vertebral bodies.	4
Posterior staphyloma	A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.	8
Posterior subcapsular cataract	A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.	103
Posterior synechiae of the anterior chamber	Adhesions between the iris and the lens.	14
Posterior uveitis	Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid.	5
Posterior vitreous detachment	Separation of the vitreous humor from the retina.	3
Posterolateral diaphragmatic hernia	A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity.	3
Postexertional symptom exacerbation	Post-exertional symptom exacerbation (PESE), also referred to as post-exertional malaise (PEM), is defined as the worsening of symptoms that can follow minimal cognitive, physical, emotional, or social activity, or activity that could previously be tolerated. Symptoms typically worsen 12 to 72 hours after activity and can last for days or even weeks, sometimes leading to a relapse.	14
Postnatal growth retardation	Slow or limited growth after birth.	257
Postnatal macrocephaly	The postnatal development of an abnormally large skull (macrocephaly).	6
Postprandial hyperglycemia	An increased concentration of glucose in the blood following a meal.	9
Postterm pregnancy	A pregnancy that extends to 42 weeks of gestation or beyond.	5
Postural instability	A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.	91
Postural tremor	A type of tremors that is triggered by holding a limb in a fixed position.	70
Potter facies	A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose.	13
Pre-capillary pulmonary hypertension	Pre-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg).	158
Preauricular hair displacement	An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones.	6
Preauricular pit	Small indentation anterior to the insertion of the ear.	60
Preauricular skin tag	A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).	78
Preaxial foot polydactyly	Duplication of all or part of the first ray.	19
Preaxial hand polydactyly	Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.	60
Preaxial polydactyly	A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe.	83
Precocious puberty	The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.	182
Precocious puberty in females	The onset of puberty before the age of 8 years in girls.	10
Precordial pain	A type of chest pain that arises in the or under the left breast and often described as throbbing, stabbing, or burning, and lasting hours or longer. The pain may arise with or after effort, and may spread to the left arm or left side of the neck.	3
Predominantly dermal neutrophilic infiltrate	Collection of neutrophils in the dermis.	3
Predominantly lower limb lymphedema	Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs.	9
Preeclampsia	Pregnancy-induced hypertension in association with significant amounts of protein in the urine.	23
Pregnancy exposure	Exposure of pregnant women to toxins from any source, such as environmental toxins or chemicals, that may potentially cause problems such as miscarriage, preterm delivery, low birth weight, and, in some cases, developmental delays in infants.	6
Pregnancy history	Medical history of maternal diseases, exposures, or other relevant findings during the pregnancy of which the index person was the product.	175
Prelingual sensorineural hearing impairment	A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.	13
Premature adrenarche	Onset of adrenarche at an earlier age than usual.	10
Premature arteriosclerosis	Arteriosclerosis occurring at an age that is younger than usual.	8
Premature atrial contractions	A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites.	8
Premature birth	The birth of a baby of less than 37 weeks of gestational age.	174
Premature chromatid separation	The presence of premature sister chromatid segregation.	4
Premature closure of fontanelles	Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point.	3
Premature coronary artery atherosclerosis	Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45.	19
Premature graying of hair	Development of gray hair at a younger than normal age.	50
Premature loss of permanent teeth	Premature loss of the permanent teeth.	7
Premature loss of primary teeth	Loss of the primary (also known as deciduous) teeth before the usual age.	21
Premature loss of teeth	Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.	57
Premature ovarian insufficiency	Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.	65
Premature pubarche	The onset of growth of pubic hair at an earlier age than normal.	13
Premature rupture of membranes	Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor.	17
Premature sagging cheeks	Drooping or sinking of tissues of the cheeks more than would be expected at a given age. Sagging can occur due to a relative excess of skin and/or lack of elastic recoil as well as fat accumulation.	5
Premature skin wrinkling	The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms.	68
Premature thelarche	Premature development of the breasts.	17
Premature ventricular contraction	Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node.	29
Prenatal death	Death of a fetus in the uterus.	66
Prenatal movement abnormality	An abnormality of fetal movement.	242
Presenile cataracts	Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual.	3
Presyncope	Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause.	5
Pretibial blistering	A type of blistering that affects the skin of the tibial region.	4
Primary adrenal insufficiency	Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.	23
Primary hyperaldosteronism	A form of hyperaldosteronism caused by a defect within the adrenal gland.	10
Primary hypercortisolism	Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol.	9
Primary hyperparathyroidism	A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia.	14
Primary hypothyroidism	A type of hypothyroidism that results from a defect in the thyroid gland.	6
Primary microcephaly	Head circumference below 2 standard deviations below the mean for age and gender at birth.	73
Primary peritoneal carcinoma	A type of cancer that originates in the peritoneum. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum.	14
Primitive neuroectodermal tumor	A tumor that originates in cells from the primitive neural crest. This group of tumors is characteirzed by the presence of primitive cells with elements of neuronal and/or glial differentiation.	67
Primitive reflex	The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.	27
Primum atrial septal defect	An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum.	3
Problematic alcohol consumption	Impaired ability to stop or control alcohol use despite adverse social, occupational, or health consequences.	27
Proboscis	A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline.	20
Productive cough	A cough that produces phlegm or mucus.	63
Profound global developmental delay	A profound delay in the achievement of motor or mental milestones in the domains of development of a child.	72
Profound hearing impairment	A profound (essentially complete) form of hearing impairment.	13
Profound sensorineural hearing impairment	Complete loss of hearing related to a sensorineural defect.	11
Progeroid facial appearance	A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance.	30
Progressive bowing of long bones	Progressive bending or abnormal curvature of a long bone.	3
Progressive clavicular acroosteolysis	Progressive bone resorption in the distal part of the clavicle.	3
Progressive conductive hearing impairment	A progressive type of conductive deafness.	3
Progressive distal muscle weakness	Progressively reduced strength of the distal musculature.	15
Progressive distal muscular atrophy	Progressive muscular atrophy affecting muscles in the distal portions of the extremities.	38
Progressive external ophthalmoplegia	Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades.	41
Progressive extrapyramidal muscular rigidity	A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).	4
Progressive flexion contractures	Progressively worsening joint contractures.	7
Progressive gait ataxia	A type of gait ataxia displaying progression of clinical severity.	30
Progressive hearing impairment	A progressive form of hearing impairment.	59
Progressive intervertebral space narrowing	A progressive form of decreased height of the intervertebral disk.	3
Progressive language deterioration	Progressive loss of previously present language abilities.	3
Progressive leukoencephalopathy	Leukoencephalopathy that gets more severe with time.	5
Progressive macrocephaly	The progressive development of an abnormally large skull.	7
Progressive microcephaly	Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.	91
Progressive proximal muscle weakness	Lack of strength of the proximal muscles that becomes progressively more severe.	26
Progressive ptosis	A progressive form of ptosis.	4
Progressive sensorineural hearing impairment	A progressive form of sensorineural hearing impairment.	52
Progressive spasticity	Spasticity that increases in degree with time.	31
Progressive visual loss	A reduction of previously attained ability to see.	130
Projectile vomiting	Vomiting that ejects the gastric contents with great force.	4
Prolinuria	Level of proline in the urine anove the upper limit of normal.	7
Prolonged PR interval	Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex).	10
Prolonged QRS complex	Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec.	6
Prolonged QT interval	Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).	54
Prolonged QTc interval	A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.	29
Prolonged bleeding after dental extraction	Prolonged bleeding post dental extraction sufficient to require medical intervention.	23
Prolonged bleeding after surgery	Bleeding that persists longer than the normal time following a surgical procedure.	17
Prolonged bleeding following circumcision	Bleeding that persists for a longer than usual time following circumcision.	13
Prolonged bleeding following procedure	Prolonged or protracted bleeding following an invasive procedure or intervention.	32
Prolonged bleeding time	Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.	50
Prolonged miniature endplate currents	An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.	4
Prolonged neonatal jaundice	Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.	73
Prolonged partial thromboplastin time	Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms.	35
Prolonged prothrombin time	Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.	48
Prolonged whole-blood clotting time	An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot.	4
Prominence of the premaxilla	Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla.	7
Prominent U wave	Increased amplitude of the U wave, defined as an amplitude greater than 1-2mm or 25 percent of the height of the T wave.	4
Prominent antihelix	The presence of an abnormally prominent antihelix.	16
Prominent antitragus	Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.	6
Prominent calcaneus	Protruding heel bone, or calcaneus.	11
Prominent crus of helix	The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix.	6
Prominent digit pad	A soft tissue prominence of the ventral aspects of the fingertips or toe tips.	48
Prominent ear helix	Abnormally prominent ear helix.	7
Prominent eyelashes	Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly.	17
Prominent fingertip pads	'A soft tissue prominence of the ventral aspects of the fingertips. The term \''persistent fetal fingertip pads\'' is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist.'	46
Prominent forehead	Forward prominence of the entire forehead, due to protrusion of the frontal bone.	259
Prominent glabella	Forward protrusion of the glabella.	25
Prominent metopic ridge	Vertical bony ridge positioned in the midline of the forehead.	68
Prominent nasal bridge	Anterior positioning of the nasal root in comparison to the usual positioning for age.	238
Prominent nasolabial fold	Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure).	17
Prominent nose	Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.	110
Prominent occiput	Increased convexity of the occiput (posterior part of the skull).	61
Prominent palatine ridges	Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge.	4
Prominent superficial veins	A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticeable than normal.	33
Prominent supraorbital ridges	Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.	55
Prominent umbilicus	Abnormally prominent umbilicus (belly button).	7
Prominent veins on trunk	Prominent thoracic and abdominal veins.	5
Propionyl-CoA carboxylase deficiency	An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase.	3
Proportionate short stature	A kind of short stature in which different regions of the body are shortened to a comparable extent.	152
Proptosis	An eye that is protruding anterior to the plane of the face to a greater extent than is typical.	280
Prostate cancer	A cancer of the prostate.	28
Prostatitis	The presence of inflammation of the prostate.	7
Protein-losing enteropathy	Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract.	20
Proteinuria	Increased levels of protein in the urine.	249
Protruding ear	Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).	218
Protruding tongue	Tongue extending beyond the alveolar ridges or teeth at rest.	45
Protrusio acetabuli	Intrapelvic bulging of the medial acetabular wall.	13
Protuberant abdomen	A thrusting or bulging out of the abdomen.	45
Proximal amyotrophy	Amyotrophy (muscular atrophy) affecting the proximal musculature.	58
Proximal femoral epiphysiolysis	Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt.	9
Proximal femoral metaphyseal irregularity	Irregularity of the normally smooth surface of the proximal metaphysis of the femur.	8
Proximal hyperreflexia	Hyperactive stretch reflexes of muscles that move proximal joints (elbow, knee).	42
Proximal lower limb amyotrophy	Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.	20
Proximal muscle weakness	A lack of strength of the proximal muscles.	262
Proximal muscle weakness in lower limbs	A lack of strength of the proximal muscles of the legs.	72
Proximal muscle weakness in upper limbs	A lack of strength of the proximal muscles of the arms.	62
Proximal placement of thumb	Proximal mislocalization of the thumb.	44
Proximal radio-ulnar synostosis	An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna.	6
Proximal renal tubular acidosis	A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia.	11
Proximal symphalangism of hands	The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases.	8
Proximal tapering of metacarpals	Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance.	3
Proximal tubulopathy	Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle.	57
Proximal upper limb amyotrophy	Muscular atrophy affecting proximally located muscles of the arms.	13
Proximal/middle symphalangism of 5th finger	Fusion of the proximal and middle phalanges of the 5th finger.	4
Prune belly	A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants.	4
Pruritis on hand	Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the hand.	5
Pruritus	Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.	149
Pruritus on foot	Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the foot.	4
Pseudoarthrosis	'A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or \''false joint\'').'	9
Pseudobulbar affect	Pseudobulbar affect (PBA) is characterized by uncontrolled crying or laughing which may be disproportionate or inappropriate to the social context. Thus, there is a disparity between the patient's emotional expression and his or her emotional experience.	3
Pseudobulbar paralysis	Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing.	23
Pseudobulbar signs	Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.	32
Pseudoepiphyses of the phalanges of the hand	A secondary ossification center in the phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.	5
Pseudohypoaldosteronism	A state of renal tubular unresponsiveness or resistance to the action of aldosterone.	6
Pseudohypoparathyroidism	A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone.	4
Psoriasiform dermatitis	A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).	33
Psoriasiform lesion	A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus.	4
Psychic epileptic aura	Aura with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events.	10
Psychomotor deterioration	Loss of previously present mental and motor abilities.	20
Psychosis	A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis.	138
Psychotic episodes	Periods of time during which an individual experiences significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality. These episodes are hallmark features of psychotic disorders such as schizophrenia, schizoaffective disorder, and certain forms of bipolar disorder.	18
Psychotic mentation	A pattern of thinking and perceiving characterized by a loss of contact with reality, leading to significant changes in thoughts, perceptions, and behaviors.	29
Pterygium	Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits.	48
Pulmonary arterial hypertension	Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.	158
Pulmonary arteriovenous malformation	Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins.	5
Pulmonary artery aneurysm	An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery.	8
Pulmonary artery atresia	A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.	33
Pulmonary artery dilatation	An abnormal widening of the diameter of the pulmonary artery.	13
Pulmonary artery hypoplasia	Underdevelopment of the pulmonary artery.	10
Pulmonary artery stenosis	An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.	81
Pulmonary bleb	A bleb is a small gas-containing space within the visceral pleura or in the subpleural lung, not larger than 1 cm in diameter. CT findings show a bleb as a thin-walled cystic air space contiguous with the pleura.	3
Pulmonary bulla	Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema.	5
Pulmonary carcinoid tumor	A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma.	8
Pulmonary cyst	A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid.	29
Pulmonary edema	Fluid accumulation in the lungs.	29
Pulmonary embolism	An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.	43
Pulmonary fibrosis	Replacement of normal lung tissues by fibroblasts and collagen.	77
Pulmonary hemorrhage	Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease.	31
Pulmonary interstitial high-resolution computed tomography abnormality	High-resolution computed tomography (HRCT) can distinguish findings that characterize characterize interstitial lung diseases in a way not possible with other modalities.	25
Pulmonary interstitial lymphocyte infiltration	Abnormal accumulation of lymphocytes in the interstitium of the lung.	4
Pulmonary interstitial thickening	Pathological thickening of the pulmonary interstitium visualized radiographically and divided into interlobular and intralobular septal thickening.	7
Pulmonary lymphangiectasia	Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid.	5
Pulmonary lymphangiomyomatosis	Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls.	3
Pulmonary opacity	Opacity refers to any area that preferentially attenuates the x-ray beam and therefore appears more opaque than the surrounding area. It is a nonspecific term that does not indicate the size or pathologic nature of the abnormality.	26
Pulmonary pneumatocele	A pneumatocele is a thin walled, gas-filled space in the lung. It is most frequently caused by acute pneumonia, trauma, or aspiration of hydrocarbon fluid and is usually transient. The mechanism is believed to be a combination of parenchymal necrosis and check-valve airway obstruction. A pneumatocele appears as an approximately round, thin-walled airspace in the lung.	3
Pulmonary sequestration	The presence of a piece lung tissue which is not attached to the pulmonary blood supply and does not communicate with the other lung tissue (not connected to the standard bronchial airways and not performing a function in respiration).	4
Pulmonary situs ambiguus	An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same.	44
Pulmonary tuberculosis	A lung infection by Mycobacterium tuberculosis a slightly curved non-motile, aerobic, non-capsulated and non-spore forming strains of mycobacteria.	3
Pulmonary valve atresia	A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop.	3
Pulmonary venous hypertension	An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension.	9
Pulmonic regurgitation	The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole.	27
Pulmonic stenosis	A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).	136
Pulp calcification	Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies.	7
Pulsatile tinnitus	Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation.	17
Pulverulent cataract	A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally.	11
Punctate cataract	A type of cataract with punctate opacities of the lens.	14
Punctate keratitis	A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium.	5
Punctate opacification of the cornea	Punctate opacification (reduced transparency) of the corneal stroma.	5
Punctate periventricular T2 hyperintense foci	Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter.	4
Punctate vertebral calcifications	The presence of punctiform calcification of the bone of the vertebral bodies.	3
Punding	Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects.	6
Pure red cell aplasia	A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction.	30
Purple urine	An abnormal purple color of the urine.	4
Purpura	Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.	131
Pursed lips	An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance.	4
Pustular rash	A rash composed of pustular lesions. A pustule is defined as a vesicle or bulla containing purulent material. It varies in size and may occur at different levels within the epidermis: subcorneal, intraepidermal, or basement membrane zones. The pustules may or may not be sterile and are normally filled with neutrophils.	4
Pustule	A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells.	41
Pyelonephritis	An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices.	21
Pyloric stenosis	Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss.	104
Pyoderma	Any manifestation of a skin disease associated with the production of pus.	5
Pyoderma gangrenosum	A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat's paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer.	11
Pyridoxine-responsive sideroblastic anemia	A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment.	23
Pyuria	The presence of 10 or more white cells per cubic millimeter in a urine specimen, 3 or more white cells per high-power field of unspun urine, a positive result on Gram staining of an unspun urine specimen, or a urinary dipstick test that is positive for leukocyte esterase.	31
Quadriceps muscle atrophy	Muscular atrophy involving the quadriceps muscle.	5
Quadriceps muscle weakness	Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris).	23
Question mark ear	Cleft between the helix and the lobe.	4
REM parasomnia	Parasomnia occurs during REM sleep.	10
Rachitic rosary	A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib.	7
Radial artery aplasia	Congenital absence of the radial artery.	26
Radial bowing	A bending or abnormal curvature of the radius.	26
Radial club hand	Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius.	3
Radial deviation of finger	Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.	58
Radial deviation of the 2nd finger	Displacement of the 2nd finger towards the radial side.	6
Radial deviation of the hand	An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb).	12
Radial dysplasia	Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia.	4
Radial head subluxation	Partial dislocation of the head of the radius.	8
Radioulnar dislocation	A dislocation is a separation of the radius and ulna bones where they normally meet. The radioulnar joints are two locations, proximal and distal, in which the radius and ulna articulate in the forearm. Both can dislocate.	3
Radioulnar synostosis	An abnormal osseous union (fusion) between the radius and the ulna.	78
Ragged-red muscle fibers	An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.	73
Rapidly progressive	Applies to a disease manifestation that quickly increases in scope or severity over the course of time.	37
Reactive hypoglycemia	Hypoglycermia following a meal (or more generally, after intake of glucose).	7
Receptive language delay	A delay in the acquisition of the ability to understand the speech of others.	14
Rectal abscess	A collection of pus in the area of the rectum.	10
Rectal atresia	A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum.	4
Rectal fistula	The presence of a fistula affecting the rectum.	26
Rectal polyposis	The presence of multiple rectal hyperplastic/adenomatous polyps.	5
Rectal prolapse	Protrusion of the rectal mucous membrane through the anus.	59
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material	An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern.	3
Rectoperineal fistula	The presence of a fistula between the perineum and the rectum.	3
Rectovaginal fistula	The presence of a fistula between the vagina and the rectum.	22
Recurrent	Applies to a sign, symptom or manifestation that occurs multiple times separated by intervals in which the sign, symptom, or manifestation is not present.	4
Recurrent Aspergillus infections	An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections.	25
Recurrent Burkholderia cepacia infections	Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent.	23
Recurrent E. coli infections	Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent.	4
Recurrent Haemophilus influenzae infections	Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae.	25
Recurrent Klebsiella infections	Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection.	6
Recurrent Neisserial infections	Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis).	7
Recurrent Serratia marcescens infections	Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection.	4
Recurrent Staphylococcus aureus infections	Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection.	32
Recurrent abscess formation	An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses.	22
Recurrent acute respiratory tract infection	A history of repeated acute infections of the upper or lower respiratory tract.	10
Recurrent aphthous stomatitis	Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.	46
Recurrent aspiration pneumonia	Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia.	27
Recurrent bacterial infections	Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.	211
Recurrent bacterial skin infections	Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.	32
Recurrent bronchiolitis	An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis.	3
Recurrent bronchitis	An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.	36
Recurrent bronchopulmonary infections	An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections.	15
Recurrent candida infections	An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections.	17
Recurrent corneal erosions	The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations.	14
Recurrent cutaneous abscess formation	An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses.	11
Recurrent cutaneous fungal infections	Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections.	61
Recurrent ear infections	Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections.	19
Recurrent enteroviral infections	Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection.	5
Recurrent fever	Periodic (episodic or recurrent) bouts of fever.	105
Recurrent fractures	The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).	133
Recurrent fungal infections	Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.	110
Recurrent gastroenteritis	Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis.	14
Recurrent gram-negative bacterial infections	Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents.	37
Recurrent hand flapping	A type of repetitive behavior in which the affected individual repeatedly waves the hands and/or arms rhythmically.	30
Recurrent herpes	Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus.	24
Recurrent hypoglycemia	Recurrent episodes of decreased concentration of glucose in the blood.	21
Recurrent infection of the gastrointestinal tract	Recurrent infection of the gastrointestinal tract.	40
Recurrent intrapulmonary hemorrhage	A recurrent hemorrhage occurring within the lung.	8
Recurrent joint dislocation	Dislocation of a given joint repeated times.	14
Recurrent long bone fractures	An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna).	5
Recurrent lower respiratory tract infections	An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.	241
Recurrent meningitis	An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis.	5
Recurrent meningococcal disease	Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus.	6
Recurrent mycobacterial infections	Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection.	57
Recurrent mycobacterium avium complex infections	Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection.	3
Recurrent myoglobinuria	Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue.	7
Recurrent opportunistic infections	Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system.	10
Recurrent oral herpes	Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus.	4
Recurrent otitis media	Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.	222
Recurrent pancreatitis	A recurrent form of pancreatitis.	26
Recurrent paroxysmal headache	Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality.	32
Recurrent patellar dislocation	Patellar dislocation occurring repeated times.	7
Recurrent pharyngitis	An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis.	10
Recurrent pneumonia	An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.	134
Recurrent protozoan infections	Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection.	5
Recurrent shingles	Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes.	3
Recurrent sinopulmonary infections	An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.	63
Recurrent sinusitis	A recurrent form of sinusitis.	71
Recurrent skin infections	Infections of the skin that happen multiple times.	141
Recurrent spontaneous abortion	Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference.	11
Recurrent staphylococcal infections	Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections.	35
Recurrent streptococcal infections	Increased susceptibility to streptococcal infections, as manifested by recurrent episodes of streptococcal infections.	5
Recurrent systemic pyogenic infections	Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections.	5
Recurrent thrombophlebitis	Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).	7
Recurrent tonsillitis	Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis.	16
Recurrent upper and lower respiratory tract infections	Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections.	16
Recurrent upper respiratory tract infections	An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).	177
Recurrent urinary tract infections	Repeated infections of the urinary tract.	157
Recurrent viral infections	Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.	59
Recurrent viral upper respiratory tract infections	An increased susceptibility to viral upper respiratory tract infections as manifested by a history of recurrent viral upper respiratory tract infections (otitis, sinusitis, pharyngitis, tonsillitis).	3
Red eye	A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera.	120
Red urine	An abnormal red color of the urine.	4
Red-brown urine	An abnormal red-brown color of the urine.	4
Red-green dyschromatopsia	Difficulty with discriminating red and green hues.	11
Reduced C-peptide level	A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion.	7
Reduced FEV1/FVC ratio	Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity).	8
Reduced MHC II surface expression	A reduction from the normal level of major histocompatibility complex class II molecules expressed at the cell surface.	4
Reduced TSH response to thyrotrophin-releasing hormone stimulation test	A lower than normal TSH response to thyrotrophin-releasing hormone stimulation test.	4
Reduced alpha/beta synthesis ratio	A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia.	4
Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	An abnormal reduction in the amplitude of the a-wave.	15
Reduced antigen-specific T cell proliferation	Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus.	9
Reduced antithrombin III activity	An abnormality of coagulation related to a decreased concentration of antithrombin-III.	17
Reduced antithrombin antigen	Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation.	4
Reduced antral follicle count	A count of antral follicles that is lower than normal for age.	3
Reduced arm span	Decreased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle).	4
Reduced blood folate concentration	A reduced circulating concentration of folic acid, which is also known as vitamin B9.	5
Reduced brain N-acetyl aspartate level by MRS	A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).	17
Reduced brain creatine level by MRS	A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).	3
Reduced cerebral white matter volume	An abnormally low volume of the white matter of the brain.	37
Reduced circulating CH50 activity	A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum.	5
Reduced circulating complement concentration	An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins.	58
Reduced circulating growth hormone concentration	Concentration of growth hormone in the blood circulation below normal limits.	15
Reduced circulating prolactin concentration	A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production.	22
Reduced circulating vitamin A concentration	Concentration of vitamin A below the lower limit of normal in the blood circulation.	16
Reduced coagulation factor V activity	Decreased activity of coagulation factor V.	4
Reduced consciousness	Abnormally diminished level of attention, responsiveness, or wakefulness.	250
Reduced contrast sensitivity	An abnormality in perception of contrast. Spatial contrast is a physical dimension referring to the light-dark transition of a border or an edge in an image that delineates the existence of a pattern or an object. Contrast sensitivity refers to a measure of how much contrast a person requires to see a target. Contrast-sensitivity measurements differ from acuity measurements; acuity is a measure of the spatial-resolving ability of the visual system under conditions of very high contrast, whereas contrast sensitivity is a measure of the threshold contrast for seeing a target.	12
Reduced delayed hypersensitivity	Decreased ability to react to a delayed hypersensitivity skin test.	5
Reduced eye contact	A reduced frequency or duration of eye contact.	111
Reduced factor IX activity	Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.	6
Reduced factor VII activity	Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X.	5
Reduced factor VIII activity	Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.	5
Reduced factor X activity	Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa).	4
Reduced factor XI activity	Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX.	13
Reduced factor XII activity	Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade.	6
Reduced factor XIII activity	Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot.	6
Reduced forced expiratory volume in one second	An abnormal reduction in the amount of air a person can forcefully expel in one second.	30
Reduced forced vital capacity	An abnormal reduction in the amount of air a person can expel following maximal inspiration.	38
Reduced haptoglobin level	An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state.	15
Reduced hepatic phosphorylase kinase activity	Activity of phosphorylase kinase in liver tissue below the lower limit of normal. Phosphorylase kinase (PhK) has a major regulatory role in the breakdown of glycogen. The enzyme PhK comprises four copies each of four subunits, encoded by PHKA1, PHKA2, PHKB, and PHKG.	3
Reduced isohemagglutinin level	Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).	3
Reduced left ventricular ejection fraction	A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.	59
Reduced level of N-acetylglucosaminyltransferase II	An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity.	3
Reduced maximal expiratory pressure	A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration.	4
Reduced muscle collagen VI	A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle.	4
Reduced muscle fiber alpha dystroglycan	Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly.	11
Reduced natural killer cell activity	Reduced ability of the natural killer cell to function in the adaptive immune response.	16
Reduced natural killer cell count	Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor.	29
Reduced number of corneal endothelial cells	A reduction in the number of corneal endothelial cells.	8
Reduced number of intrahepatic bile ducts	The presence of reduced numbers of intrahepatic bile duct than normal.	5
Reduced pancreatic beta cells	Reduced number of beta cells in the pancreatic islets of Langerhans.	7
Reduced progressive sperm motility	A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increased proportion of sperm that move in tight circles or in some other non-linear fashion.	18
Reduced protein C activity	An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va.	10
Reduced protein S activity	An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C.	9
Reduced radioactive iodine uptake	A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.	14
Reduced renal corticomedullary differentiation	Reduced differentiation between renal cortex and medulla on diagnostic imaging.	15
Reduced social responsiveness	A reduced ability to participate in the back-and-forth flow of social interaction appropriate to culture and developmental level, which is normally characterized by an influence of the behavior of one person on the behavior of another person. This results in difficulty interacting with others through emotional, physical, or verbal communication.	69
Reduced sperm motility	An abnormal reduction in the mobility of ejaculated sperm.	69
Reduced subcutaneous adipose tissue	A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness.	33
Reduced tissue glycine cleavage enzyme activity	Concentration or activity of the glycine cleavage enzyme below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts.	3
Reduced vital capacity	An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung.	29
Reduced von Willebrand factor activity	Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.	12
Reduction of neutrophil motility	An abnormal reduction of the cell motility of neutrophils.	8
Redundant neck skin	Excess skin around the neck, often lying in horizontal folds.	34
Redundant skin	Loose and sagging skin often associated with loss of skin elasticity.	92
Reflex seizure	Seizures precipitated by exogenous stimuli.	22
Refractory anemia with ringed sideroblasts	A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts.	5
Relative macrocephaly	A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.	65
Remnants of the hyaloid vascular system	Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract.	12
Renal Fanconi syndrome	An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.	16
Renal agenesis	Agenesis, that is, failure of the kidney to develop during embryogenesis and development.	207
Renal amyloidosis	A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856).	11
Renal angiomyolipoma	A benign renal neoplasm composed of fat, vascular, and smooth muscle elements.	5
Renal artery stenosis	The presence of stenosis of the renal artery.	25
Renal atrophy	Atrophy of the kidney.	7
Renal calcium wasting	High urine calcium in the presence of hypocalcemia.	3
Renal cell carcinoma	A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.	73
Renal cortical cysts	Cysts of the cortex of the kidney.	17
Renal cortical hyperechogenicity	Increased echogenecity of the kidney cortex.	4
Renal cortical microcysts	Cysts of microscopic size confined to the cortex of the kidney.	4
Renal corticomedullary cysts	The presence of multiple cysts at the border between the renal cortex and medulla.	9
Renal cyst	A fluid filled sac in the kidney.	279
Renal duplication	A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters.	49
Renal dysplasia	The presence of developmental dysplasia of the kidney.	74
Renal fibrosis	Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease.	16
Renal hamartoma	A disordered proliferation of mature tissues that are native to the kidneys.	7
Renal hypoplasia	Hypoplasia of the kidney.	144
Renal interstitial fibrosis	The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic.	7
Renal magnesium wasting	High urine magnesium in the presence of hypomagnesemia.	7
Renal malrotation	An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney.	8
Renal necrosis	Cell death (necrosis) affecting one or more parts of the kidney.	5
Renal neoplasm	The presence of a neoplasm of the kidney.	138
Renal phosphate wasting	High urine phosphate in the presence of hypophosphatemia.	14
Renal potassium wasting	High urine potassium in the presence of hypokalemia.	6
Renal salt wasting	A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).	22
Renal sodium wasting	An abnormally increased sodium concentration in the urine in the presence of hyponatremia.	8
Renal steatosis	Abnormal fat accumulation in the kidneys.	11
Renal tubular acidosis	Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis.	49
Renal tubular atrophy	The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules.	19
Renal tubular dysfunction	Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid.	122
Renal tubular epithelial necrosis	Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%).	5
Renotubular dysgenesis	A developmental defect characterized by absence or poor development of proximal renal tubules.	4
Renovascular hypertension	The presence of hypertension related to stenosis of the renal artery.	28
Repeated implantation failure	Repeated implantation failure refers to a situation in which embryos of good quality fail to implant following several in vitro fertilization (IVF) treatment cycles.	3
Respiratory alkalosis	Alkalosis due to excess loss of carbon dioxide from the body.	6
Respiratory distress	Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.	224
Respiratory failure	A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.	257
Respiratory failure requiring assisted ventilation	A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation.	37
Respiratory paralysis	Inability to move the muscles of respiration.	9
Response to drugs acting on neuromuscular transmission	Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis.	7
Resting tremor	A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse.	59
Restless legs	Restless Leg Syndrome (RLS) is a condition characterized by an uncomfortable and restless sensation in the legs that occurs after going to bed, often leading to insomnia.	29
Restlessness	A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior.	68
Restricted or repetitive behaviors or interests	A broad range of compulsive behaviors are repeated, including simple motor stereotypies and tics, as well as more complex repetitive movements or compulsions.	264
Restrictive behavior	Behavior characterized by an abnormal limitation to a few interests and activities.	17
Restrictive cardiomyopathy	Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness.	23
Restrictive ventilatory defect	A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.	109
Reticular hyperpigmentation	Increased pigmentation of the skin with a netlike (reticular) pattern.	12
Reticular pattern on pulmonary HRCT	On pulmonary high-resolution computed tomography, reticular pattern is characterized by innumerable interlacing shadows suggesting a mesh.	14
Reticular pigmentary degeneration	A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus.	4
Reticulocytopenia	A reduced number of reticulocytes in the peripheral blood.	38
Reticulocytosis	An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.	47
Retinal arterial occlusion	Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina.	5
Retinal arterial tortuosity	The presence of an increased number of twists and turns of the retinal artery.	13
Retinal arteriolar constriction	Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina.	3
Retinal arteriolar tortuosity	The presence of an increased number of twists and turns of the retinal arterioles.	34
Retinal astrocytic hamartoma	A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte.	3
Retinal atrophy	Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.	118
Retinal calcification	Deposition of calcium salts in the retina.	3
Retinal capillary hemangioma	A benign vascular tumor of the retina without any neoplastic characteristics.	16
Retinal cavernous hemangioma	A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous angioma are described as having a 'cluster of grapes' appearance.	4
Retinal coloboma	A notch or cleft of the retina.	43
Retinal degeneration	A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.	293
Retinal detachment	Separation of the inner layers of the retina (neural retina) from the pigment epithelium.	117
Retinal dots	Yellow, white or grayish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size.	4
Retinal dysplasia	The presence of developmental dysplasia of the retina.	26
Retinal exudate	Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina.	15
Retinal flecks	Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions.	8
Retinal fold	A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy.	11
Retinal hamartoma	A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina.	22
Retinal hemorrhage	Hemorrhage occurring within the retina.	30
Retinal hole	A small break in the retina.	7
Retinal neoplasm	A tumor (abnormal growth of tissue) of the retina.	3
Retinal neovascularization	In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment.	10
Retinal nerve fiber edema	Swelling (edema) of the retinal nerve fibers.	14
Retinal nonattachment	Failure of attachment of the retina during development.	7
Retinal peau d'orange	A pebbly orange appearance of the fundus that is said to resemble the skin of an orange.	4
Retinal perforation	A small hole through the whole thickness of the retina.	12
Retinal pigment epithelial atrophy	Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.	42
Retinal pigment epithelial mottling	Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium.	47
Retinal telangiectasia	Dilatation of small blood vessels of the retina.	27
Retinal thinning	Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT).	31
Retinal vascular tortuosity	The presence of an increased number of twists and turns of the retinal blood vessels.	57
Retinal vein occlusion	Blockage of the retinal vein.	7
Retinitis	Inflammation of the retina of the eye.	3
Retinoblastoma	A tumor of the eye originating from cells of the retina.	3
Retinopathy	Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.	142
Retinopathy of prematurity	An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness.	5
Retinoschisis	Splitting of the neuroretinal layers of the retina.	8
Retractile testis	A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex.	4
Retrobulbar optic neuritis	Optic neuritis that occurs in the section of the optic nerve located behind the eyeball.	18
Retrocollis	A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.	9
Reye syndrome-like episodes	Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure.	4
Rhabdomyolysis	Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.	45
Rhabdomyoma	A benign tumor of striated muscle.	5
Rhegmatogenous retinal detachment	A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium.	12
Rheumatoid arthritis	Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures.	23
Rheumatoid factor positive	The presence in the serum of an autoantibody directed against the Fc portion of IgG.	20
Rhinitis	Inflammation of the nasal mucosa with nasal congestion.	107
Rhinorrhea	Increased discharge of mucus from the nose.	7
Rhizomelia	Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).	67
Rhizomelic arm shortening	Disproportionate shortening of the proximal segment of the arm (i.e. the humerus).	10
Rhizomelic leg shortening	Disproportionate shortening of the proximal segment of the leg (i.e. the femur).	3
Rhombencephalosynapsis	Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis.	15
Rib exostoses	Multiple circumscribed bony excrescences located in the ribs.	5
Rib fusion	Complete or partial merging of adjacent ribs.	47
Rickets	Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.	47
Ridged fingernail	Longitudinal, linear prominences in the fingernail plate.	9
Ridged nail	Longitudinal, linear prominences in the nail plate.	34
Rieger anomaly	A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities.	12
Right aortic arch	Aorta descends on right instead of on the left.	23
Right aortic arch with mirror image branching	The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery.	7
Right atrial enlargement	Increase in size of the right atrium.	25
Right atrial isomerism	Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest.	3
Right bundle branch block	A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.	57
Right isomerism	A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures.	3
Right unicoronal synostosis	Unicoronal synostosis affecting only the right coronal suture.	3
Right ventricular cardiomyopathy	Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease.	7
Right ventricular dilatation	Enlargement of the chamber of the right ventricle, which can be defined echocardiographically as a right ventricular to left ventricular ratio greater than 1:1.	17
Right ventricular failure	Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly.	18
Right ventricular hypertrophy	In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.	33
Right ventricular outlet tract obstruction	An obstruction to the forward flow of blood in the outflow tract of the right ventricle.	3
Right-to-left shunt	Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left.	4
Rigidity	Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.	211
Rimmed vacuoles	Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.	45
Ring scotoma	An annular field defect centered on fixation.	7
Rocker bottom foot	The presence of both a prominent heel and a convex contour of the sole.	66
Rod-cone dystrophy	An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.	232
Rotary nystagmus	A form of nystagmus in which the eyeball makes rotary motions around the axis.	26
Round face	The facial appearance is more circular than usual as viewed from the front.	105
ST segment depression	An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line.	13
ST segment elevation	An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line.	25
Saccadic intrusion	An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by a delayed corrective saccade.	3
Saccadic oscillation	An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade.	20
Saccadic smooth pursuit	An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements.	26
Sacral dimple	A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.	109
Sacral lipoma	Presence of a lipoma in the region of the sacrum.	3
Sacrococcygeal pilonidal abnormality	The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds.	113
Sacrococcygeal teratoma	A teratoma arising in the sacro-coccygeal region.	4
Sagittal craniosynostosis	A kind of craniosynostosis affecting the sagittal suture.	25
Salivary gland neoplasm	A tumor (abnormal growth of tissue) of a salivary gland.	10
Salt craving	Hypersalivation, also known as salt craving, refers to an excessive desire to consume salt (sodium chloride) or salty foods.	3
Salty tasting skin	Skin tastes marked salty without an obvious explanation such as heat or exercise. This finding can be observed in infants with cystic fibrosis.	3
Sandal gap	A widely spaced gap between the first toe (the great toe) and the second toe.	96
Sarcoma	A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant.	169
Scaling skin	Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.	45
Scalp tenderness	Pain or discomfort of the scalp elicited by palpation.	7
Scanning speech	An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly.	15
Scaphocephaly	Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis.	40
Scapular muscle atrophy	Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle.	3
Scapular winging	Abnormal protrusion of the scapula away from the surface of the back.	99
Scapuloperoneal amyotrophy	Muscular atrophy in the distribution of shoulder girdle and peroneal muscles.	5
Scarring	A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed.	102
Schistocytosis	The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood.	13
Schizencephaly	The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area.	10
Schizophrenia	A mental disorder characterized by a disintegration of thought processes and emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking. It is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 1%. This term is not a helpful parent term to describe abnormal experiences.	74
Schwannoma	A benign nerve sheath tumor composed of Schwann cells.	16
Scimitar anomaly	Right pulmonary venous return to the inferior vena cava.	4
Scissor gait	A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use.	10
Scleral staphyloma	A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.	10
Scleral thickening	Increased dimension of the sclera in the anterior-posterior axis.	3
Scleritis	Inflammation of the sclera.	4
Sclerocornea	A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea.	49
Sclerodactyly	Localized thickening and tightness of the skin of the fingers or toes.	5
Scleroderma	A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin.	13
Sclerosing cholangitis	Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative.	11
Sclerosis of finger phalanx	An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.	8
Sclerosis of foot bone	An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity.	4
Sclerosis of hand bone	Osteosclerosis affecting one or more bones of the hand.	12
Sclerosis of skull base	Increased bone density of the skull base without significant changes in bony contour.	16
Sclerotic vertebral endplates	Sclerosis (increased density) affecting vertebral end plates.	6
Scotoma	A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision.	105
Scrotal hyperpigmentation	Increased pigmentation (skin color) of the scrotum.	4
Sea-blue histiocytosis	An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa.	5
Seborrheic dermatitis	Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk.	28
Seborrheic keratosis	A raised growth on the skin of older individuals. The lesion usually is initially light tan and may darken to dark brown or nearly black. The consistent feature of seborrheic keratoses is their waxy, pasted-on or stuck-on look.	3
Seborrhoeic blepharitis	Inflammation of the eyelid due to overactivity of the sebaceous gland.	3
Second degree atrioventricular block	An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction.	15
Second trimester onset	This term refers to a phenotypic feature that was first observed prior to birth during the second trimester, which comprises the range of gestational ages from 14 0/7 weeks to 27 6/7 (inclusive).	51
Secondary hyperparathyroidism	Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia.	5
Secondary microcephaly	Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.	200
Secretory adrenocortical adenoma	An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones.	3
Secretory diarrhea	Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.	13
Secundum atrial septal defect	A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.	45
Seesaw nystagmus	Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements.	5
Segmental peripheral demyelination	A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system.	4
Segmental peripheral demyelination/remyelination	A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves.	22
Seizure precipitated by febrile infection	Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age.	145
Selective tooth agenesis	Agenesis specifically affecting one of the classes incisor, premolar, or molar.	46
Self-biting	Habitual biting of one's own body.	13
Self-injurious behavior	Self-aggression.	207
Self-mutilation	Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die.	51
Semantic dementia	A progressive loss of the ability to remember the meaning of words, faces and objects.	7
Semilobar holoprosencephaly	A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.	9
Senile plaques	Senile plaques are extracellular deposits of amyloid in the gray matter of the brain.	11
Sensory ataxia	Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms.	16
Sensory axonal neuropathy	An axonal neuropathy of peripheral sensory nerves.	39
Sensory neuropathy	Peripheral neuropathy affecting the sensory nerves.	115
Sensory seeking	Unusual interest in sensory aspects of the environment.	28
Sepsis	Systemic inflammatory response to infection.	126
Septate vagina	The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases.	12
Septo-optic dysplasia	Underdevelopment of the optic nerve and absence of the septum pellucidum.	20
Serositis	Inflammation in any serous cavity.	103
Sertoli cell neoplasm	The presence of a neoplasm of the testis with origin in a Sertoli cell.	5
Severe B lymphocytopenia	A severe form of B lymphocytopenia in which the count of B cells is very low or absent.	6
Severe Epstein Barr virus infection	An unusually severe Epstein Barr virus (EBV) infection.	6
Severe T-cell immunodeficiency	A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms.	4
Severe combined immunodeficiency	A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.	21
Severe cytomegalovirus infection	An unusually severe infection by cytomegalovirus.	12
Severe demyelination of the white matter	A severe loss of myelin from nerve fibers in the central nervous system.	7
Severe expressive language delay	A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.	11
Severe global developmental delay	A severe delay in the achievement of motor or mental milestones in the domains of development of a child.	233
Severe hearing impairment	A severe form of hearing impairment.	14
Severe infection	A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection.	75
Severe intrauterine growth retardation	Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age.	15
Severe lactic acidosis	A severe form of lactic acidemia.	14
Severe muscular hypotonia	A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.	66
Severe periodontitis	A severe form of periodontitis.	4
Severe photosensitivity	A severe degree of photosensitivity of the skin.	6
Severe postnatal growth retardation	Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms.	39
Severe sensorineural hearing impairment	A severe form of sensorineural hearing impairment.	13
Severe short stature	A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.	110
Severe temper tantrums	Temper tantrums, which occur with more severe symptomatology compared to a temper tantrum that occurs as a part of normal developmental process.	6
Severe varicella zoster infection	An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestations including VZV pneumonia, hepatitis, meningitis, and disseminated varicella.	16
Severe viral infection	An unusually severe viral infection.	36
Severely reduced left ventricular ejection fraction	A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent.	14
Severely reduced visual acuity	Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05.	45
Sex reversal	Development of the reproductive system is inconsistent with the chromosomal sex.	14
Sex-limited expression	Sex limitation is used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in one sex.	4
Shagreen patch	A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled. The word shagreen refers to a type of roughened untanned leather.	5
Shallow anterior chamber	Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased.	18
Shallow orbits	Reduced depth of the orbits associated with prominent-appearing ocular globes.	36
Shawl scrotum	Superior margin of the scrotum superior to the base of the penis.	25
Shield chest	A broad chest.	17
Shivering	Involuntary contraction or twitching of the muscles.	3
Shock	The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury.	13
Short 1st metacarpal	A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.	27
Short 2nd finger	Hypoplasia of the second finger, also known as the index finger.	17
Short 2nd metacarpal	Short second metacarpal bone because of developmental hypoplasia.	3
Short 2nd toe	Underdevelopment (hypoplasia) of the second toe.	4
Short 3rd finger	Hypoplastic/small 3rd (middle) finger.	3
Short 3rd metacarpal	Short third metacarpal bone.	4
Short 3rd toe	Underdevelopment (hypoplasia) of the third toe.	3
Short 4th finger	Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger.	4
Short 4th metacarpal	Short fourth metacarpal bone.	18
Short 4th toe	Underdevelopment (hypoplasia) of the fourth toe.	6
Short 5th finger	Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.	63
Short 5th metacarpal	Short fifth metacarpal bone.	15
Short 5th toe	Underdevelopment (hypoplasia) of the fifth toe.	5
Short chin	Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.	69
Short clavicles	Reduced length of the clavicles.	37
Short columella	Reduced distance from the anterior border of the naris to the subnasale.	29
Short dental root	Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length.	15
Short distal phalanx of finger	Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.	118
Short distal phalanx of the 5th finger	Hypoplastic/small distal phalanx of the fifth finger.	6
Short distal phalanx of the thumb	Hypoplastic (short) distal phalanx of the thumb.	8
Short distal phalanx of toe	Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe.	7
Short ear	Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear.	3
Short eyelashes	Decreased length of the eyelashes (subjective).	4
Short face	Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective).	19
Short femoral neck	An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).	44
Short femur	An abnormal shortening of the femur.	29
Short fifth metatarsal	Short (hypoplastic) fifth metatarsal bone.	8
Short first metatarsal	Short first metatarsal bone.	5
Short foot	A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).	151
Short fourth metatarsal	Short fourth metatarsal bone.	16
Short greater sciatic notch	The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch.	5
Short hallux	Underdevelopment (hypoplasia) of the big toe.	35
Short hard palate	Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective).	5
Short humerus	Underdevelopment of the humerus.	32
Short iliac bones	Underdevelopment of the iliac bones.	3
Short lingual frenulum	The presence of an abnormally short lingual frenulum.	12
Short long bone	One or more abnormally short long bone.	277
Short lower limbs	Shortening of the legs related to developmental hypoplasia of the bones of the leg.	13
Short metacarpal	Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.	129
Short metatarsal	Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.	62
Short middle phalanx of finger	Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.	54
Short middle phalanx of the 2nd finger	Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger.	8
Short middle phalanx of the 4th finger	Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger.	3
Short middle phalanx of the 5th finger	Hypoplastic/small middle phalanx of the fifth finger.	22
Short middle phalanx of toe	Developmental hypoplasia (shortening) of middle phalanx of toe.	5
Short nail	Decreased length of nail.	15
Short nasal bridge	Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose.	6
Short palm	Short palm.	116
Short palpebral fissure	Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.	122
Short phalanx of finger	Short (hypoplastic) phalanx of finger, affecting one or more phalanges.	198
Short phalanx of hallux	Underdevelopment (hypoplasia) of a phalanx of big toe.	3
Short phalanx of the 5th toe	Developmental hypoplasia of one or more phalanx of little toe.	3
Short phalanx of the thumb	Hypoplastic (short) thumb phalanx.	36
Short philtrum	Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.	251
Short proximal phalanx of finger	Congenital hypoplasia of one or more proximal phalanx of finger.	7
Short proximal phalanx of hallux	Underdevelopment (hypoplasia) of the proximal phalanx of big toe.	3
Short proximal phalanx of thumb	Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.	3
Short ribs	Reduced rib length.	70
Short sperm flagella	Sperm cells with abnormally short flagella.	33
Short sternum	Decreased inferosuperior length of the sternum.	13
Short telomere length	An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur.	14
Short term memory impairment	A deficit in the retention of pieces of information (memory chunks) for a relatively short time (usually up to 30 seconds).	6
Short thorax	Reduced inferior to superior extent of the thorax.	50
Short thumb	Hypoplasia (congenital reduction in size) of the thumb.	125
Short tibia	Underdevelopment (reduced size) of the tibia.	26
Short toe	A toe that appears disproportionately short compared to the foot.	111
Short tubular bones of the hand	Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals.	4
Short umbilical cord	Decreased length of the umbilical cord.	6
Short upper lip	Decreased width of the upper lip.	12
Short uvula	Decreased length of the uvula.	3
Shortened PR interval	Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long.	9
Shortened QT interval	Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).	13
Shortened sleep phase	A tendency to sleep fewer hours than usual while feeling well-rested.	3
Shortening of all distal phalanges of the fingers	Hypoplasia of all of the distal phalanx of finger.	14
Shortening of all distal phalanges of the toes	Abnormally short distal phalanx of toe of all toes.	3
Shortening of all middle phalanges of the fingers	Short, hypoplastic middle phalanx of finger, affecting all fingers.	7
Shortening of all phalanges of fingers	Abnormal reduction in length affecting all phalanges.	3
Shortening of all phalanges of the toes	Developmental hypoplasia (shortening) of all phalanges of the foot.	8
Shoulder contracture	Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the shoulder joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.	10
Shoulder dislocation	A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation.	18
Shoulder flexion contracture	Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.	8
Shoulder girdle muscle atrophy	Amyotrophy affecting the muscles of the shoulder girdle.	16
Shoulder girdle muscle weakness	The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.	57
Shoulder muscle hypoplasia	Underdevelopment of muscles of the shoulder.	5
Shoulder pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder.	7
Shoulder subluxation	A partial dislocation of the shoulder joint.	3
Shuffling gait	A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground.	41
Sick sinus syndrome	An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress.	29
Sideroblastic anemia	Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining).	35
Silver-gray hair	Hypopigmented hair that appears silver-gray.	6
Simple ear	The pinna has fewer folds and grooves than usual.	24
Simple febrile seizure	A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance.	27
Simplified gyral pattern	An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.	84
Single coronary artery origin	The presence of a single coronary artery ostium from which both coronary arteries arise.	3
Single fiber EMG abnormality	Abnormality in single fiber EMG recording, a technique that allows identification of action potentials (APs) from individual muscle fibers.	8
Single interphalangeal crease of fifth finger	Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger.	4
Single lineage myelodysplasia	Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic).	5
Single naris	The presence of only a single nostril.	21
Single transverse palmar crease	The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.	214
Single umbilical artery	Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord.	46
Single ventricle	The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle.	12
Sinus bradycardia	Bradycardia related to a mean resting sinus rate of less than 50 beats per minute.	30
Sinus tachycardia	Heart rate of greater than 100 beats per minute.	28
Sinusitis	Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.	164
Sirenomelia	A developmental defect in which the legs are fused together.	11
Situs inversus totalis	A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs.	121
Skeletal dysplasia	A general term describing features characterized by abnormal development of bones and connective tissues.	185
Skeletal muscle autophagosome accumulation	Abnormal accumulation of autophagosomes in skeletal muscle tissue.	4
Skeletal muscle hypertrophy	Abnormal increase in muscle size and mass not due to training.	218
Skewfoot	A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occur under the metatarsal heads and the head of the plantar-flexed talus.	6
Skin appendage neoplasm	A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands.	18
Skin dimple	Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation.	119
Skin erosion	A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.	28
Skin fissure	A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis.	4
Skin nodule	Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat.	128
Skin pit	A small, skin-lined tract that leads from the surface to deep within the tissues.	83
Skin plaque	A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter.	47
Skin rash	A red eruption of the skin.	172
Skin tags	Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region.	95
Skin ulcer	A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.	133
Skin vesicle	A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point.	27
Skin-picking	Repetitive and compulsive picking of skin which results in tissue damage.	12
Sleep apnea	An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep.	166
Sleep onset insomnia	Difficulty initiating sleep, that is, increased sleep onset latency, refers to the condition where it takes 30 minutes or more to fall asleep.	5
Sleep paralysis	An inability to move the body at the onset of sleep or upon awakening from sleep, lasting for seconds to a few minutes.	10
Sleep terror	Episodes of intense fear, screaming, and flailing occur even though the affected individuals are still asleep.	3
Sleep-related breathing disorders	Conditions of abnormal and difficult respiration during sleep, including chronic snoring and sleep apnea.	167
Sleep-wake cycle disturbance	Any abnormality of an individual's circadian rhythm that affects the timing of sleeping and being awake is referred to as a sleep-wake disorder.	44
Slender build	Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.	30
Slender finger	Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.	159
Slender long bone	Reduced diameter of a long bone.	49
Slender long bones with narrow diaphyses	Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones.	5
Slender metacarpals	Decreased width of the metacarpal bones (that is, reduced diameter).	3
Slender toe	Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.	6
Sloping forehead	Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.	187
Slow pupillary light response	Reduced velocity and acceleration in the pupillary light response.	18
Slow saccadic eye movements	An abnormally slow velocity of the saccadic eye movements.	40
Slow-growing hair	Hair whose growth is slower than normal.	29
Slow-growing scalp hair	Scalp hair whose growth is slower than normal.	4
Slowly progressive	Applies to a disease manifestation that only slowly increases in scope or severity over the course of time.	161
Slurred speech	Abnormal coordination of muscles involved in speech.	54
Small anterior fontanelle	Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms.	10
Small basal ganglia	Decreased size of the basal ganglia.	14
Small cerebral cortex	Reduced size of the cerebral cortex.	8
Small cervical vertebral bodies	Reduced size of cervical vertebrae.	3
Small earlobe	Reduced volume of the earlobe.	27
Small epiphyses	Reduction in the size or volume of epiphyses.	24
Small face	A face that is short and narrow.	141
Small for gestational age	Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.	264
Small foramen magnum	An abnormal narrowing of the foramen magnum.	12
Small forehead	The presence of a forehead that is abnormally small.	16
Small hand	Disproportionately small hand.	120
Small hypothenar eminence	Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence.	4
Small intestinal dysmotility	Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.	6
Small intestinal polyposis	The presence of multiple polyps in the small intestine.	5
Small intestinal stenosis	The narrowing or partial blockage of a portion of the small intestine.	29
Small joint hypermobilty	The capability that a small joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Small joints include metacarpophalangeal joints, proximal interphalangeal joints, second to fifth metatarsophalangeal joints, and wrists.	61
Small nail	A nail that is diminished in length and width, i.e., underdeveloped nail.	183
Small pituitary gland	An abnormally decreased size of the pituitary gland.	14
Small placenta	Reduced size of the placenta.	9
Small proximal tibial epiphyses	Reduced size of the proximal epiphysis of the tibia.	4
Small scrotum	Apparently small scrotum for age.	63
Small sella turcica	An abnormally small sella turcica.	3
Small thenar eminence	Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb.	10
Small vessel vasculitis	A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries.	5
Smooth philtrum	Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.	184
Smooth tongue	Glossy appearance of the entire tongue surface.	4
Snoring	Deep, noisy breathing during sleep, accompanied by hoarse or harsh sounds, is caused by the vibration of respiratory structures, especially the soft palate. This vibration results in sound due to obstructed air movement during breathing while sleeping.	7
Social disinhibition	A tendency to violate social norms because of a failure to resist temptations or urges in social settings.	70
Soft skin	Subjective impression of increased softness upon palpation of the skin.	44
Soft tissue neoplasm	A tumor (abnormal growth of tissue) that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms.	13
Soft tissue sarcoma	A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues.	121
Soft, doughy skin	A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough.	14
Solitary median maxillary central incisor	A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors.	26
Somnambulism	Ambulation or other complex motor behaviors may occur after getting out of bed in a sleep-like state. During sleepwalking episodes, the individual who is somnambulating appears confused or dazed, with their eyes usually open. They may mumble or give inappropriate answers to questions, and occasionally appear agitated.	7
Sparse axillary hair	Reduced number or density of axillary hair.	45
Sparse body hair	Sparseness of the body hair.	61
Sparse eyebrow	Decreased density/number of eyebrow hairs.	150
Sparse eyelashes	Decreased density/number of eyelashes.	75
Sparse lateral eyebrow	Decreased density/number and/or decreased diameter of lateral eyebrow hairs.	36
Sparse medial eyebrow	Decreased density/number and/or decreased diameter of medial eyebrow hairs.	5
Sparse pubic hair	Reduced number or density of pubic hair.	51
Sparse scalp hair	Decreased number of hairs per unit area of skin of the scalp.	142
Spastic diplegia	Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.	41
Spastic dysarthria	A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality.	26
Spastic gait	Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.	80
Spastic paraparetic gait	A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait.	11
Spastic paraplegia	Spasticity and weakness of the leg and hip muscles.	115
Spastic tetraparesis	Spastic weakness affecting all four limbs.	74
Spastic tetraplegia	Spastic paralysis affecting all four limbs.	120
Spatulate ribs	Ribs that are increased in width and taper to the posterior ends.	4
Spatulate thumbs	Spoon-shaped, broad thumbs.	4
Speech apraxia	A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.	32
Speech articulation difficulties	Impairment in the physical production of speech sounds.	35
Spermatocyte maturation arrest	A type of spermatogenesis maturation arrest in which the block of developmental occurs in the spermatocyte stage. Testicular histology shows seminiferous tubules with Sertoli cells, spermatogonial cells and spermatocytes but no further differentiated cells like round spermatids.	5
Spermatogenesis maturation arrest	Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa.	16
Spherocytosis	The presence of erythrocytes that are sphere-shaped.	8
Spherophakia	Spherophakia is a rare congenital condition that presents with weak zonules around a more spherical crystalline lens with an increased anteroposterior thickness of the lens, and highly myopic eye. The lens zonules are developmentally hypoplastic and abnormally weak and due to non-attachment of the posterior zonules to the equatorial zone of the lens, the lens changes its normal shape to spherical.	5
Spider hemangioma	A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released.	5
Spina bifida	Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.	129
Spina bifida occulta	The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.	76
Spinal canal stenosis	An abnormal narrowing of the spinal canal.	43
Spinal cord compression	External mechanical compression of the spinal cord.	43
Spinal cord tumor	A neoplasm affecting the spinal cord.	11
Spinal dysraphism	A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.	145
Spinal lipoma	A lipoma that is localized to the spine.	3
Spinal muscular atrophy	Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.	23
Spinal myoclonus	Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia.	4
Spinal rigidity	Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.	59
Spinocerebellar atrophy	Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord.	3
Splanchnic vein thrombosis	The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity).	25
Splenic cyst	A closed sac located in the spleen.	3
Splenic infarction	Ischemia and necrosis of part or all of the spleen resulting from compromise of blood supply resulting from arterial or venous occlusion.	6
Splenic rupture	A breach of the capsule of the spleen.	4
Split foot	A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.	8
Split hand	A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands.	63
Split nail	A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature.	11
Spoken word recognition deficit	Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus.	9
Spondyloepiphyseal dysplasia	A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).	13
Spondylolisthesis	Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra.	20
Spondylolysis	Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma.	6
Spontaneous hematomas	Spontaneous development of hematomas (hematoma) or bruises without significant trauma.	19
Spontaneous neonatal pneumothorax	Pneumothorax occurring neonatally without traumatic injury to the chest or lung.	3
Spontaneous pain sensation	Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger.	5
Spontaneous pneumothorax	Pneumothorax occurring without traumatic injury to the chest or lung.	16
Sporadic	Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.	98
Sprengel anomaly	A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).	54
Squamous cell carcinoma	The presence of squamous cell carcinoma of the skin.	71
Squamous cell carcinoma of the skin	Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium.	23
Square face	Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance.	16
Square pelvis bone	An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure.	4
Square-wave jerks	Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion.	3
Squared iliac bones	A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance.	13
Stage 1 chronic kidney disease	A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2).	3
Stage 2 chronic kidney disease	A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2).	3
Stage 3 chronic kidney disease	A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2).	5
Stage 5 chronic kidney disease	A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.	134
Stapes ankylosis	Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles).	8
Staring gaze	An abnormality in which the eyes are held permanently wide open.	22
Startle-induced seizure	Startle-induced seizures are triggered by multiple and non-specific stimuli (auditory, somatosensory, and rarely visual) and are characterized by their sudden unexpected nature. Sudden noise rather than pure sound is the most effective acoustic stimulus.	3
Status epilepticus	Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.	207
Status epilepticus with prominent motor symptoms	Status epilepticus with prominent motor signs during the prolonged seizure.	29
Status epilepticus without prominent motor symptoms	There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma.	27
Steatocystoma multiplex	Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities).	4
Steatorrhea	Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.	64
Steep acetabular roof	An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance.	3
Stenosis of the external auditory canal	An abnormal narrowing of the external auditory canal.	40
Steppage gait	An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.	93
Stereotypic whole-body movements	Abnormal movements of the whole body.	10
Stereotypical body rocking	Habitual repetitive movement of the entire body, front to back or side to side.	8
Stereotypical hand wringing	Habitual clasping and wringing of the hands in the middle of the body, similar to a hand-washing movement.	29
Sterile abscess	An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms.	5
Sternocleidomastoid amyotrophy	Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head.	4
Steroetypic movements of face and head	Abnormal movements of face and head.	63
Steroetypic upper-extremity movements	Abnormal movements of the upper extremities.	57
Steroid-resistant nephrotic syndrome	A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication.	17
Steroid-responsive anemia	Amelioration of anemia upon treatment with a steroid medication.	4
Stiff interphalangeal joints	Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity.	3
Stiff neck	A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side.	5
Stiff skin	An induration (hardening) of the skin	7
Stillbirth	Death of the fetus in utero after at least 22 weeks of gestation.	31
Stomach cancer	A cancer arising in any part of the stomach.	33
Stomatitis	Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth.	70
Stomatocytosis	The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.	14
Stooped posture	A habitual positioning of the body with the head and upper back bent forward.	9
Storage in hepatocytes	Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material.	191
Straight clavicles	An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved .	8
Stratum basale cleavage	Cleavage within the epidermal keratinocytes, which is the innermost layer of the epidermis and consists of proliferating cells that give rise to the outer layers of the epidermis.	4
Streak ovary	A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.	39
Stress/infection-induced lactic acidosis	A form of lactic acidemia that occurs in relation to stress or infection.	3
Striae distensae	Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.	38
Stridor	Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.	49
Stroke	Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.	189
Stroke-like episode	No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours.	31
Structural foot deformity	A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies.	4
Stuttering	Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds.	25
Subarachnoid hemorrhage	Hemorrhage occurring between the arachnoid mater and the pia mater.	39
Subcapsular cataract	A cataract that affects the region of the lens directly beneath the capsule of the lens.	115
Subcortical band heterotopia	A form of subcortical heterotopia with mislocalized gray matter within the white matter.It is defined as longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter. It is part of the lissencephaly spectrum.	10
Subcortical cerebral atrophy	Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter.	27
Subcortical dementia	A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change.	3
Subcortical heterotopia	A form of heterotopia were the mislocalized gray matter is located deep within the white matter.	12
Subcutaneous calcification	Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument).	4
Subcutaneous hemorrhage	This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses).	257
Subcutaneous lipoma	The presence of subcutaneous lipoma.	7
Subcutaneous nodule	Slightly elevated lesions on or in the skin with a diameter of over 5 mm.	93
Subcutaneous spheroids	Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray.	3
Subdural hemorrhage	Hemorrhage occurring between the dura mater and the arachnoid mater.	14
Subependymal cysts	Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life.	8
Subependymal giant-cell astrocytoma	A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis.	3
Subependymal nodules	Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis.	4
Subepidermal blistering	A type of blistering in which the lesions are located beneath the epidermis.	11
Submucous cleft hard palate	Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.	72
Submucous cleft palate	A cleft of the muscular portion of the palate that is covered by mucous membrane.	83
Submucous cleft soft palate	A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue.	11
Subperiosteal bone formation	The formation of new bone along the cortex and underneath the periosteum of a bone.	4
Subperiosteal bone resorption	Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone.	3
Subpleural honeycombing	So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space.	16
Subretinal deposits	Deposits accumulating between the outer retina and the retinal pigment epithelium.	6
Subretinal fluid	Edema/fluid accumulating between the retinal pigment epithelium and Bruch's membrane.	10
Subretinal pigment epithelium hemorrhage	An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch's membrane.	3
Subsarcolemmal accumulations of abnormally shaped mitochondria	An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology.	6
Substantia nigra gliosis	Focal proliferation of glial cells in the substantia nigra.	13
Subungual fibromas	The presence of fibromata beneath finger or toenails.	3
Subungual hyperkeratosis	A thickening of the stratum corneum in the region beneath the nails.	7
Subvalvular aortic stenosis	A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve.	22
Sudden cardiac death	The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).	112
Sudden death	Rapid and unexpected death.	131
Sudden episodic apnea	Recurrent bouts of sudden, severe apnea that may be life-threatening.	19
Sudden loss of visual acuity	Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy.	5
Sudden unexpected death in epilepsy	Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination has not revealed a cause of death.	10
Suicidal ideation	Frequent thoughts about or preoccupation with killing oneself.	23
Sulfite oxidase deficiency	Abnormally reduced sulfite oxidase level.	3
Sunken cheeks	Lack or loss of the soft tissues between the zygomata and mandible.	5
Superficial dermal perivascular inflammatory infiltrate	Numerous lymphocytes surrounding blood vessels in the superficial part of the dermis.	4
Superficial thrombophlebitis	Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein).	18
Superior pectus carinatum	Pectus carinatum affecting primarily the superior part of the sternum.	4
Supernumerary cusp	Additional cusps of a dental crown.	5
Supernumerary maxillary incisor	The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor.	5
Supernumerary metacarpal bones	The presence of more than the normal number of metacarpal bones.	4
Supernumerary nipple	Presence of more than two nipples.	52
Supernumerary ribs	The presence of more than 12 rib pairs.	28
Supernumerary spleens	The presence of two or more accessory spleens.	94
Supernumerary tooth	The presence of one or more teeth additional to the normal number.	51
Supranuclear gaze palsy	A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.	55
Supranuclear ophthalmoplegia	A vertical gaze palsy with inability to direct the gaze of the eyes downwards.	4
Supravalvar pulmonary stenosis	A cardiovascular malformation associated with narrowing at the level of the pulmonary sinotubular junction above the pulmonic valve.	3
Supravalvular aortic stenosis	A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow.	30
Supraventricular arrhythmia	A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm.	134
Supraventricular tachycardia	Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles.	57
Sutural cataract	A type of congenital cataract in which the opacity follows the anterior or posterior Y suture.	8
Swan neck-like deformities of the fingers	A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke.	9
Swollen lip	Enlargement of the lip typically due to fluid buildup or inflammation.	7
Symblepharon	A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball.	3
Symphalangism affecting the phalanges of the hand	Fusion of two or more phalangeal bones of the hand.	20
Symphalangism affecting the proximal phalanx of the 5th finger	Fusion of the proximal phalanx of the 5th finger with another bone.	4
Symphalangism of middle phalanx of 5th finger	Fusion of the middle phalanx of the 5th finger with another bone.	5
Symphalangism of middle phalanx of finger	Fusion of a middle phalanx of a finger with another bone.	9
Symphalangism of the 5th finger	Fusion of two or more bones of the 5th finger.	5
Symptomatic seizures	A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed.	35
Syncope	Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.	120
Synkinesis	Unintentional movement in one area of the body produced during intentional movement of another area of the body.	32
Synophrys	Meeting of the medial eyebrows in the midline.	195
Synostosis involving bones of the hand	An abnormal union between bones or parts of bones of the hand.	53
Synostosis involving bones of the lower limbs	An abnormal union between bones or parts of bones lower limbs.	32
Synostosis involving bones of the upper limbs	An abnormal union between bones or parts of bones of the upper limbs.	125
Synostosis of carpals/tarsals	The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus.	50
Synostosis of joints	The abnormal fusion of neighboring bones across a joint.	199
Synostosis of thumb phalanx	Fusion of a phalanx of the thumb with another bone.	4
Synovial lining hyperplasia	Synovial hyperplasia involves proliferation of mesenchymal stromal/stem cells and leads to synovial thickening, which can be observed radiographically.	8
Syringomyelia	Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord.	33
Systemic lupus erythematosus	A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes.	35
Systolic anterior motion of the mitral valve	Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole.	3
Systolic heart murmur	A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2.	13
T lymphocytopenia	An abnormally low count of T cells.	66
T-cell acute lymphoblastic leukemias	Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females.	3
T-cell lymphoma	A type of lymphoma that originates in T-cells.	12
T-wave alternans	A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG.	3
T-wave inversion	An inversion of the T-wave (which is normally positive).	6
T2 hypointense basal ganglia	A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia.	3
T2 hypointense thalamus	A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus.	3
Tachycardia	A rapid heartrate that exceeds the range of the normal resting heartrate for age.	140
Tachypnea	Very rapid breathing.	93
Tactile hypersensitivity	A decreased tolerance to physical touch.	6
Tactile sensory seeking	Pursuit of a specific texture that is abnormal in intensity and/or frequency.	25
Talipes calcaneovalgus	'Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an \''up and out\'' appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg.'	14
Talipes calcaneovarus	A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus.	4
Talipes equinovalgus	A deformity of foot and ankle in which the foot is bent down and outwards.	14
Talipes valgus	Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot.	21
Tall chin	Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin.	7
Tall stature	A height above that which is expected according to age and gender norms.	178
Talon cusp	Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown).	4
Tapered distal phalanges of finger	A reduction in diameter of the distal phalanx of finger towards the distal end.	6
Tapered finger	The gradual reduction in girth of the finger from proximal to distal.	141
Tapered sperm head	Sperm with cigar-shaped heads that gradually dimish in diameter (taper).	8
Tapered toe	The gradual reduction in girth of the toe from proximal to distal.	4
Tarsal sclerosis	An elevation in bone density in one or more tarsal bones of the foot. Sclerosis is normally detected on a radiograph as an area of increased opacity.	3
Tarsal synostosis	Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).	26
Taurodontia	Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots.	55
Telangiectases of the cheeks	Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks.	4
Telangiectasia	Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.	161
Telangiectasia of the skin	Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.	79
Telecanthus	Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.	172
Temperature instability	Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature.	40
Temporal bossing	Prominence (bulging) in the temple region, which is the part of the skull where the frontal, parietal, temporal, and sphenoid bones join on the side of the head.	3
Temporal cortical atrophy	Atrophy of the temporal cortex.	23
Temporal optic disc pallor	A pale yellow discoloration of the temporal (lateral) portion of the optic disc.	8
Temporal pattern	The speed at which disease manifestations appear and develop.	23
Temporomandibular joint ankylosis	Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening.	5
Tendon rupture	Breakage (tear) of a tendon.	5
Tendon xanthomatosis	The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows).	15
Tented philtrum	Prominence of a triangular soft tissue area of the philtrum with the apex to the columella.	3
Tented upper lip vermilion	Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.	115
Teratoma	The presence of a teratoma.	11
Tessier cleft	A congenital malformation with a cleft (gap or opening) in the face.	19
Testicular adrenal rest tumor	Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm.	8
Testicular atrophy	Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility.	16
Testicular gonadoblastoma	The presence of a gonadoblastoma of the testis.	11
Testicular neoplasm	The presence of a neoplasm of the testis.	35
Testicular seminoma	The presence of a seminoma, an undifferentiated germ cell tumor of the testis.	4
Tetany	A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.	22
Tethered cord	During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord.	30
Tetralogy of Fallot	A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.	182
Tetraparesis	Weakness of all four limbs.	117
Tetraplegia	Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord.	44
Tetraplegia/tetraparesis	Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength.	150
Thalamic calcification	Calcium deposition in the thalamus.	3
Thenar muscle atrophy	Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb.	15
Thick corpus callosum	Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain.	18
Thick eyebrow	Increased density/number and/or increased diameter of eyebrow hairs.	154
Thick growth plates	Increased thickness (dimension along the axis of the bone) of the growth plate.	3
Thick hair	Increased density of hairs, i.e., and elevated number of hairs per unit area.	20
Thick lower lip vermilion	Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).	136
Thick nasal alae	Increase in bulk of the ala nasi.	39
Thick pachygyria	Pachygyria with a very thick cerebral cortex measuring 10-20 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age.	4
Thick upper lip vermilion	Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective).	27
Thick vermilion border	Increased width of the skin of vermilion border region of upper lip.	278
Thickened Achilles tendon	An abnormal thickening of the Achilles tendon.	3
Thickened calvaria	The presence of an abnormally thick calvaria.	40
Thickened cortex of bones	An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones.	13
Thickened cortex of long bones	Abnormal thickening of the cortex of long bones.	13
Thickened ears	Increased thickness of the external ear.	11
Thickened glomerular basement membrane	Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney.	12
Thickened helices	Increased thickness of the helix of the ear.	47
Thickened nuchal skin fold	A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome.	59
Thickened ribs	Increased thickness (diameter) of ribs.	8
Thickened superior cerebellar peduncle	Increased width of the superior cerebellar peduncle.	4
Thickening of the tubular basement membrane	Increase in thickness of the basement membrane of the tubulus of the kidney.	4
Thin bony cortex	Abnormal thinning of the cortical region of bones.	24
Thin clavicles	Abnormally reduced diameter (cross section) of the clavicles.	6
Thin eyebrow	Decreased diameter of eyebrow hairs.	25
Thin glomerular basement membrane	Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs.	3
Thin long bone diaphyses	Decreased width of the diaphysis of long bones.	4
Thin lower lip vermilion	Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective).	5
Thin nail	Nail that appears thin when viewed on end.	15
Thin ribs	Ribs with a reduced diameter.	52
Thin skin	Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.	90
Thinning of Descemet membrane	A reduction in the thickness of Descemet's membrane.	6
Third degree atrioventricular block	Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them.	12
Third trimester onset	This term refers to a phenotypic feature that was first observed prior to birth during the third trimester, which is defined as 28 weeks and zero days (28+0) of gestation and beyond.	45
Thoracic aorta calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta.	5
Thoracic aortic aneurysm	An abnormal localized widening (dilatation) of the thoracic aorta.	121
Thoracic hemivertebrae	Absence of one half of the vertebral body in the thoracic spine.	4
Thoracic kyphosis	Over curvature of the thoracic region, leading to a round back or if sever to a hump.	57
Thoracic lordosis	Thoracic lordosis refers to an abnormal curvature of the thoracic spine in which the thoracic spine displays lordosis (inward curve) instead of the normal kyphosis (outward curve).	3
Thoracic platyspondyly	A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the thoracic spine.	6
Thoracolumbar kyphosis	Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance.	21
Thrombocytosis	Increased numbers of platelets in the peripheral blood.	64
Thromboembolic stroke	A cerebrovascular accident (stroke) that occurs because of thromboembolism.	74
Thromboembolism	The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.	100
Thrombophlebitis	Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).	27
Thumb contracture	Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the thumb joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected.	6
Thymoma	A tumor originating from the epithelial cells of the thymus.	5
Thymus hyperplasia	Enlargement of the thymus.	6
Thyroid adenoma	The presence of a adenoma of the thyroid gland.	11
Thyroid agenesis	The congenital absence of the thyroid gland.	7
Thyroid carcinoma	The presence of a carcinoma of the thyroid gland.	57
Thyroid hyperplasia	Hyperplasia of the thyroid gland.	4
Thyroid hypoplasia	Developmental hypoplasia of the thyroid gland.	23
Thyroid nodule	'A nodular lesion that develops in the thyroid gland. The term \''thyroid nodule\'' refers to any abnormal growth that forms a lump in the thyroid gland.'	3
Thyroiditis	Inflammation of the thyroid gland.	49
Tibial bowing	A bending or abnormal curvature of the tibia.	41
Tibial torsion	Twisted position of the tibia (shin bone) associated with pathological rotation of the leg.	23
Tibialis anterior muscle atrophy	Wasting of the tibialis anterior muscle.	4
Tibialis muscle weakness	Muscle weakness affecting the tibialis anterior muscle.	6
Tics	Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppressible and are usually associated with awareness of an urge to perform the movement.	24
Tiger tail banding	An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding.	10
Tinnitus	Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.	71
Tip-toe gait	An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.	91
Tissue ischemia	Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion.	123
Titubation	Nodding movement of the head or body.	36
Toe clinodactyly	Bending or curvature of a toe in the tibial direction (i.e., towards the big toe).	26
Toe deformity	Abnormal positioning of toe phalanges. Deformities of the lesser toes often occur gradually, though they can be brought on by trauma. The main adult sagittal plane deformities consist of claw toes, hammer toes and mallet toes. Axial plane deformities include crossover toes.	128
Toe joint contracture	Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of a toe joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.	33
Toe syndactyly	'Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as \''bony\'' Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \''Symphalangism\''.'	239
Toenail dysplasia	An abnormality of the development of the toenails.	16
Tongue atrophy	Wasting of the tongue.	52
Tongue fasciculations	Fasciculations or fibrillation affecting the tongue muscle.	74
Tongue muscle weakness	Reduced strength of the tongue musculature, resulting in difficulties moving the tongue and possible accompanied by dysarthria or dysphagia.	12
Tongue telangiectasia	Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue.	4
Tongue thrusting	Pressing forward of the tongue in the mouth, a retained motoric habit from infantile swallowing patterns	17
Tongue tremor	An unintentional, oscillating to-and-fro muscle movement affecting the tongue.	3
Tonic pupil	An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation.	3
Tonic seizure	A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.	140
Tooth abscess	A pocket of pus located within a region of a tooth.	8
Torsade de pointes	A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG.	25
Torsion dystonia	Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.	8
Torticollis	Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.	82
Tortuosity of conjunctival vessels	The presence of an increased number of twists and turns of the conjunctival blood vessels.	4
Tortuous cerebral arteries	Excessive bending, twisting, and winding of a cerebral artery.	5
Torus palatinus	A bony protrusion present on the midline of the hard palate.	3
Total anomalous pulmonary venous return	Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium.	16
Total ophthalmoplegia	Paralysis of both the extrinsic and intrinsic ocular muscles.	8
Toxemia of pregnancy	Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia.	28
Tracheal atresia	A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking.	4
Tracheal calcification	Calcification (abnormal deposits of calcium) in the tracheal tissues.	5
Tracheobronchomalacia	Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways.	8
Tracheoesophageal fistula	An abnormal connection (fistula) between the esophagus and the trachea.	95
Tractional retinal detachment	A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes.	8
Transient global amnesia	A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information.	22
Transient hyperphenylalaninemia	A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine).	5
Transient neutropenia	A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity.	7
Transitional cell carcinoma of the bladder	The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell.	31
Transposition of the great arteries	A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle.	79
Transverse terminal limb defect	A congenital anomaly that appears as an amputation at different levels of the extremity. The limb is missing the terminal (distal) segment(s), with preservation of all the segment(s) proximal to the missing segment.	22
Transverse terminal upper limb defect	A congenital anomaly that appears as an amputation at different levels of the arm, e.g. humerus, proximal forearm, wrist or finger. The limb is missing the terminal (distal) segment(s), with preservation of all the segment(s) proximal to the missing segment.	20
Tremor by anatomical site	Tremor classified by the affected body part.	102
Triangular face	Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.	165
Triangular mouth	The presence of a triangular form of the mouth.	20
Triangular shaped middle phalanx of the 2nd finger	Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.	3
Triangular shaped middle phalanx of the 5th finger	Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.	3
Triangular shaped phalanges of the 2nd finger	Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.	3
Triangular shaped phalanges of the 5th finger	Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.	3
Triceps weakness	A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements.	18
Trichiasis	Inversion and rubbing of the eyelashes against the globe of the eye.	4
Trichilemmoma	A benign tumor originating from the outer root sheath of the hair follicle.	5
Trichorrhexis nodosa	Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair.	11
Tricuspid atresia	Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle.	12
Tricuspid regurgitation	Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.	75
Tricuspid stenosis	A narrowing of the orifice of the tricuspid valve of the heart.	6
Tricuspid valve prolapse	One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle.	14
Trident hand	A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits.	3
Trifascicular block	Abnormal conduction in all three divisions of the intraventricular conducting tissue.	22
Trigeminal neuralgia	A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected.	13
Trigonocephaly	Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.	45
Triphalangeal thumb	A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.	70
Trismus	Limitation in the ability to open the mouth.	13
Tritanomaly	Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment.	9
Trophic changes related to pain	Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails.	5
Trophoblastic tumor	A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells .	8
True hermaphroditism	The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism.	21
Truncal ataxia	Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.	77
Truncal obesity	Obesity located preferentially in the trunk of the body as opposed to the extremities.	81
Truncal titubation	Tremor of the trunk in an anterior-posterior plane at 3-4 Hz.	7
Truncus arteriosus	A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.	26
Tube feeding	Feeding problem necessitating food and nutrient delivery via a tube.	210
Tuberous xanthoma	A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes.	4
Tubular basement membrane disintegration	DIsruption and breaking up of the basement membrane of the tubules of the kidney.	4
Tubular luminal dilatation	Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen.	5
Tubulointerstitial fibrosis	A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy.	14
Tubulointerstitial nephritis	A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.	24
Turricephaly	Tall head relative to width and length.	46
Type 1 and type 2 muscle fiber minicore regions	Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers.	3
Type 1 fibers relatively smaller than type 2 fibers	The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers.	3
Type 1 muscle fiber atrophy	Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy.	18
Type 1 muscle fiber predominance	An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).	66
Type 2 muscle fiber atrophy	Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy.	18
Type 2 muscle fiber predominance	An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy).	9
Type E brachydactyly	In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals.	5
Type I diabetes mellitus	A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.	71
Type I transferrin isoform profile	Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II.	22
Type II diabetes mellitus	A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.	144
Type II lissencephaly	A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers.	16
Type II pneumocyte hyperplasia	Increase in the number of type II pneumocytes.	3
Type II transferrin isoform profile	Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation.	17
Typical absence seizure	A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event.	32
Typically de novo	Description of conditions that are exclusively or predominantly observed to display de novo variants. In some cases, this may be due to the limited reproductive fitness of affected individuals.	12
Typified by age-related disease onset	Description of conditions in which age of onset is typically later in life and in which penetrance is dependent on the age of the subject.	5
Typified by incomplete penetrance	Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years.	151
Typified by somatic mosaicism	Description of conditions in which affected individuals typically display somatic mosaicism, i.e., genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. In many conditions typified by somatic mosaicism, constitutive mutation is lethal and cases are exclusively or predominantly mosaic.	166
U-Shaped upper lip vermilion	Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures.	8
Ubiquitin-positive cerebral inclusion bodies	Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain.	3
Ulcerative colitis	A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon.	17
Ulnar bowing	Bending of the diaphysis (shaft) of the ulna.	20
Ulnar claw	An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm.	9
Ulnar deviation of finger	Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.	37
Ulnar deviation of the 2nd finger	Displacement of the 2nd (index) finger towards the ulnar side.	7
Ulnar deviation of the hand	Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger).	33
Ultra-low vision	Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590).	5
Umbilical cord hematoma	Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels.	3
Unbalanced atrioventricular canal defect	Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced).	5
Uncombable hair	Hair that is disorderly, stands out from the scalp, and cannot be combed flat.	4
Unconjugated hyperbilirubinemia	An increased amount of unconjugated (indirect) bilurubin in the blood.	15
Underdeveloped nasal alae	Thinned, deficient, or excessively arched ala nasi.	103
Underdeveloped nasolabial fold	Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure).	3
Underdeveloped supraorbital ridges	Flatness of the supraorbital portion of the frontal bones.	61
Underdeveloped tragus	Decreased posterolateral protrusion of the tragus.	7
Underfolded helix	Underdevelopment of the helix that either affects the entire helix, or is localized.	7
Undetectable electroretinogram	Lack of any response to stimulation upon electroretinography.	29
Undetectable light- and dark-adapted electroretinogram	Absence of the combined rod-and-cone response on electroretinogram.	14
Undetectable light-adapted electroretinogram	No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells.	7
Undulate ribs	An abnormally wavy surface or edge of the ribs.	4
Unexplained fevers	Episodes of fever for which no infectious cause can be identified.	20
Ungual fibroma	Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold) or subungual (originating under the nail plate).	3
Uni- and bilateral multifocal epileptiform discharges	Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere.	18
Unicoronal synostosis	Synostosis affecting only one of the coronal sutures.	7
Unilambdoid synostosis	Premature synostosis of only one lambdoid suture.	3
Unilateral breast hypoplasia	Underdevelopment of the breast on one side only.	3
Unilateral cleft lip	A non-midline cleft of the upper lip on one side only.	10
Unilateral cryptorchidism	Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.	15
Unilateral facial palsy	One-sided weakness of the muscles of facial expression and eye closure.	3
Unilateral microphthalmos	A developmental anomaly characterized by abnormal smallness of one eye.	4
Unilateral narrow palpebral fissure	A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only.	3
Unilateral ptosis	A unilateral form of ptosis.	12
Unilateral renal agenesis	A unilateral form of agenesis of the kidney.	100
Unilateral renal dysplasia	A unilateral form of developmental dysplasia of the kidney.	3
Unilateral renal hypoplasia	One sided hypoplasia of the kidney.	5
Unossified vertebral bodies	A lack of ossification of the vertebral bodies.	3
Unusual CNS infection	A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection.	107
Unusual fungal infection	An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent.	115
Unusual infection by anatomical site	An unusual infection classified by the affected body part.	113
Unusual protozoan infection	An unusual protozoan infection that is regarded as a sign of a pathological susceptibility to infection by a protozoal agent.	3
Unusual skin infection	A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection.	9
Unusual virus reactivation	Reactivation is the mechanism whereby a latent virus that has infected a host cell switches to a lytic stage, undergoing productive viral replication and allowing the virus to spread. This term refers to reactivation regarded as unusual because of frequency, intensity, location, or nature of the virus, in the sense that the reactivation would not be observed in an immunocompetent host.	25
Upgaze palsy	A limitation of the ability to direct one's gaze above the horizontal meridian.	14
Uplifted earlobe	An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly.	26
Upper airway obstruction	Increased resistance to the passage of air in the upper airway.	18
Upper extremity joint dislocation	Displacement or malalignment of one or more joints in the upper extremity (arm).	90
Upper eyelid coloboma	A short discontinuity of the margin of the upper eyelid.	9
Upper eyelid edema	Edema in the region of the upper eyelid.	6
Upper limb amyotrophy	Muscular atrophy involving the muscles of the upper limbs.	82
Upper limb asymmetry	Difference in length or size between the right and left arm.	13
Upper limb hypertonia	Increased muscle tone observed in the arms of the affected person.	9
Upper limb metaphyseal widening	Increased width (breadth) of metaphyses of the arms.	3
Upper limb muscle weakness	Weakness of the muscles of the arms.	147
Upper limb pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm.	9
Upper limb postural tremor	A type of tremors that is triggered by holding an arm in a fixed position.	11
Upper limb undergrowth	Arm shortening because of underdevelopment of one or more bones of the upper extremity.	86
Ureteral agenesis	Failure of the ureter to undergo development.	4
Ureteral atresia	A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter.	3
Ureteral duplication	A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.	47
Ureteral hypoplasia	Underdevelopment of the ureter.	3
Ureteral obstruction	Obstruction of the flow of urine through the ureter.	39
Ureteral stenosis	The presence of a stenotic, i.e., constricted ureter.	33
Ureterocele	A ureterocele is a congenital saccular dilatation of the distal segment of the ureter.	29
Ureteropelvic junction obstruction	Blockage of urine flow from the renal pelvis to the proximal ureter.	23
Urethral atresia	Congenital anomaly characterized by closure or failure to develop an opening in the urethra.	24
Urethral diverticulum	The presence of a diverticulum (sac or pouch) in the wall of the urethra.	6
Urethral fistula	The presence of an abnormal connection between the urethra and another organ or the skin.	8
Urethral obstruction	Obstruction of the flow of urine through the urethra.	68
Urethral stenosis	Abnormal narrowing of the urethra.	57
Urethral stricture	Narrowing of the urethra associated with inflammation or scar tissue.	17
Urethral valve	The presence of an abnormal membrane obstructing the urethra.	11
Urethrovaginal fistula	The presence of a fistula between the vagina and the urethra.	6
Urethrovesical occlusion	Blockage of the flow of urine from the bladder into the urethra.	10
Uric acid nephrolithiasis	The presence of uric acid-containing calculi (stones) in the kidneys.	13
Urinary bladder sphincter dysfunction	Abnormal function of a sphincter of the urinary bladder.	32
Urinary glycosaminoglycan excretion	Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit.	22
Urinary hesitancy	Difficulty in beginning the process of urination.	4
Urinary incontinence	Loss of the ability to control the urinary bladder leading to involuntary urination.	144
Urinary retention	Inability to completely empty the urinary bladder during the process of urination.	27
Urinary tract neoplasm	The presence of a neoplasm of the urinary system.	143
Urinary urgency	Urge incontinence is the strong, sudden need to urinate.	53
Urogenital fistula	The presence of a fistula affecting the genitourinary system.	55
Urogenital sinus anomaly	A rare birth defect in women where the urethra and vagina both open into a common channel.	18
Urolithiasis	Renal stones are formed within the kidneys, and this is called nephrolithiasis. Urolithiasis is a condition that occurs when these stones exit the renal pelvis and move into the remainder of the urinary collecting system, which includes the ureters, bladder, and urethra.	4
Urticaria	Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.	54
Usual interstitial pneumonia	Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing.	15
Uterine leiomyoma	The presence of a leiomyoma of the uterus.	8
Uterine leiomyosarcoma	The presence of a leiomyosarcoma of the uterus.	28
Uterine neoplasm	A tumor (abnormal growth of tissue) of the uterus.	68
Uterine prolapse	The presence of prolapse of the uterus.	7
Uterus didelphys	A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis.	12
Uveal ectropion	Presence of iris pigment epithelium on the anterior surface of the iris.	7
Uveal melanoma	A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid).	8
Uveitis	Inflammation of one or all portions of the uveal tract.	63
Vacuolated lymphocytes	The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm.	11
Vaginal atresia	Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion.	18
Vaginal fistula	The presence of a fistula of the vagina.	30
Vaginal hernia	The presence of a hernia of the vagina.	3
Vaginal neoplasm	A tumor (abnormal growth of tissue) of the vagina.	10
Vanishing testis	A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction.	11
Variable expressivity	A variable severity of phenotypic features.	84
Varicocele	A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum.	12
Varicose veins	Enlarged and tortuous veins.	31
Vascular calcification	Abnormal calcification of the vasculature.	32
Vascular dilatation	Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.	215
Vascular granular osmiophilic material deposition	Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide. Deposition of granular osmiophilic material (GOM) is the vascular pathological hallmark of CADASIL, which is the most prevalent hereditary small vessel disease and is caused by missense mutations in the NOTCH3 gene. GOM have been shown to contain NOTCH3 ectodomain (NOTCH3ECD) and extracellular matrix proteins, and can be visualized ultrastructurally in the tunica media of small arteries and capillaries. These electron dense GOM deposits are located in the basement membrane of mural cells, i.e. vascular smooth muscle cells and pericytes. In both manifest and pre-manifest CADASIL patients, GOM deposits are present not only in brain vessels, but also in vessels of other organs, such as the skin.	7
Vascular neoplasm	A benign or malignant neoplasm (tumor) originating in the vascular system.	153
Vascular ring	A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails.	4
Vascular tortuosity	Abnormal twisting of arteries or veins.	32
Vasculitis	Inflammation of blood vessel.	72
Vasculitis by anatomical site	Vasculitis categorized according to the anatomical site where the finding is localized.	16
Vasculitis in the skin	A type of vasculitis (inflammation of blood vessel walls) that affects skeletal muscle tissue.	7
Vegetative state	The absence of wakefulness and consciousness, but in contrast to a coma, there is involuntary opening of the eyes and movements such as teeth grinding, yawning, or thrashing of the extremities.	12
Vein of Galen aneurysmal malformation	Vein of Galen aneurysmal malformation is a choroidal type of arteriovenous malformation that develops between 6 and 11 weeks of gestation. It results from 1 or more arteriovenous fistulas shunting blood toward the prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. This abnormal shunt leads to progressive dilation of the vein and prevents its involution and subsequent development into the vein of Galen.	5
Velopharyngeal insufficiency	Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.	37
Venous malformation	A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region.	11
Venous thrombosis	Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.	87
Ventouse delivery	Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labor has not progressed adequately.	3
Ventral hernia	Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall.	5
Ventricular bigeminy	An electrocardiographic finding of a normal QRS followed by a premature ventricular contraction; a rhythmic pairing of normal and atypical beats originating in the ventricles in a 1-1 ratio such that an ectopic ventricular beat follows each regular heartbeat.	4
Ventricular couplet	Two consecutive premature ventricular contractions (PVCs) with no intervening normal beats.	3
Ventricular escape rhythm	A ventricular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms).	11
Ventricular fibrillation	Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.	56
Ventricular hypertrophy	Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.	172
Ventricular preexcitation	An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway.	39
Ventricular septal hypertrophy	The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle.	13
Ventricular tachycardia	A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).	69
Verrucae	Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas.	30
Verrucous epidermal nevus	A type of epidermal nevus (which represent Blaschkoid hamartomas of the skin that result from mosaic post-zygotic mutations) that appears as skin-colored-to-brown, sharply demarcated, papillomatous papules that coalesce into plaques. The majority of these nevi are either present at birth or occur within the first year of life.	4
Verrucous papule	A wartlike (with multiple small elevated projections) papule.	3
Vertebral arch anomaly	A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra.	18
Vertebral clefting	Schisis (cleft or cleavage) of vertebral bodies.	41
Vertebral fusion	A developmental defect leading to the union of two adjacent vertebrae.	73
Vertebral hypoplasia	Small, underdeveloped vertebral bodies.	36
Vertebral segmentation defect	An abnormality related to a defect of vertebral separation during development.	160
Vertebral wedging	An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other.	19
Vertical nystagmus	Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus.	23
Vertical supranuclear gaze palsy	A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.	31
Vertigo	An abnormal sensation of spinning while the body is actually stationary.	146
Very low visual acuity	A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590).	5
Vesicoureteral reflux	Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes.	218
Vesicovaginal fistula	The presence of a fistula connecting the urinary bladder to the vagina.	3
Vestibular areflexia	Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography.	4
Vestibular hyporeflexia	A general descriptive term that describes impaired functioning of the vestibular apparatus that leads to manifestations such as dizziness or postural imbalance	19
Vestibular schwannoma	A vestibular schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear.	11
Villous atrophy	The enteric villi are atrophic or absent.	22
Violent behavior	Conduct and/or behavior, both verbal and non-verbal, including but not limited to verbal and/or physical aggression, attacks, threats, harassment, intimidation, and other disruptive behaviors in any form or through any medium, that cause or have the potential to cause a reasonable person to fear physical harm from any individual(s) or group(s) towards any person(s) or property. This is commonly defined as a violent act characterized by the use of physical force, anger, or sudden intense activity.	3
Viral encephalitis	An inflammation of brain parenchyma due to infection with a virus. Viral encephalitis can occur as a rare complication of common infections (eg, herpes virus infections) or can occur as a characteristic presentation of rare viruses (eg, rabies virus infection). Encephalitis may be the only neurologic manifestation of infection, or may occur in association with meningitis, myelitis, radiculitis, or neuritis. Viral encephalitis is associated with neurological dysfunction.	13
Viral hepatitis	Inflammation of the liver due to infection with a virus.	12
Viral infection-induced rhabdomyolysis	Rhabdomyolysis induced by a viral infection.	11
Viremia	The presence of virus in the blood.	18
Visceral hemangioma	A hemangioma arising from within visceral structures, the internal organs of the body.	4
Visual agnosia	The condition is known as visual agnosia, which refers to the inability to recognize objects that are visually presented, even though the individual may have normal visual field, acuity, color vision, brightness discrimination, language, and memory.	8
Visual fixation instability	A deficit in the ability to fixate eye movements in order to stabilize images on the retina	14
Visual hallucination	Visual perception in the absence of a visual stimulus.	25
Visual loss	Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).	269
Visually-induced seizure	Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect.	18
Vitelliform-like macular lesions	Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula.	4
Vitreoretinopathy	Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment.	22
Vitreous floaters	Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent.	12
Vitreous hemorrhage	Bleeding within the vitreous compartment of the eye.	18
Vitritis	Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity.	5
Vocal cord dysfunction	Any functional anomaly of the vocal cord.	56
Vocal cord paralysis	A loss of the ability to move the vocal folds.	56
Vocal cord paresis	Decreased strength of the vocal folds.	14
Vocal cord polyp	A small growth on a vocal cord that may appear as pedunculated or sessile and have varying size, shape, and color.	4
Volvulus	Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue.	19
Vulvar neoplasm	A tumor (abnormal growth of tissue) of the female external genital tract (vulva).	3
Waddling gait	Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.	130
Weak pulse	A diminution in the amplitude (strength) of the pulse such that the examiner has difficulty feeling the pulse.	4
Weak voice	Reduced intensity (volume) of speech.	30
Weakness of facial musculature	Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).	240
Weakness of muscles of respiration	Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles.	115
Webbed neck	Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.	122
Wheezing	A high-pitched whistling sound associated with labored breathing.	59
White eyebrow	White color (lack of pigmentation) of the eyebrow.	11
White eyelashes	White color (lack of pigmentation) of the eyelashes.	12
White forelock	A triangular depigmented region of white hairs located in the anterior midline of the scalp.	14
White hair	Hypopigmented hair that appears white.	23
White lesion of the oral mucosa	White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps or surface ulcerations and collapsed bullae can appear white.	28
White oral mucosal macule	A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed.	3
Wide anterior fontanel	Enlargement of the anterior fontanelle with respect to age-dependent norms.	99
Wide cranial sutures	An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure).	29
Wide distal femoral metaphysis	Increased width of the distal part of the shaft (metaphysis) of the femur.	4
Wide intermamillary distance	A larger than usual distance between the left and right nipple.	124
Wide mouth	Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).	219
Wide nasal base	Increased distance between the attachments of the alae nasi to the face.	28
Wide nasal ridge	Increased width of the nasal ridge.	10
Wide nose	Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.	128
Wide pubic symphysis	Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones.	7
Widely patent fontanelles and sutures	An abnormally increased width of the cranial fontanelles and sutures.	17
Widely spaced primary teeth	Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia.	6
Widely spaced teeth	Increased spaces (diastemata) between most of the teeth in the same dental arch.	125
Widely spaced toes	An overall widening of the spaces between the digits.	3
Widely-spaced maxillary central incisors	Increased distance between the maxillary central permanent incisor tooth.	10
Widened cerebellar subarachnoid space	An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum.	6
Widened cerebral subarachnoid space	An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum.	18
Widened subarachnoid space	An increase in size of the anatomic space between the arachnoid membrane and pia mater.	47
Widow's peak	Frontal hairline with bilateral arcs to a low point in the midline of the forehead.	19
Wolff-Parkinson-White syndrome	A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway.	34
Woolly hair	The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.	26
Wormian bones	The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.	61
Wrist drop	A condition in which the affected individual cannot extend the wrist, which hangs flaccidly.	7
Wrist flexion contracture	A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.	37
Wrist hypermobility	The ability of the wrist joints to move beyond their normal range of motion.	7
Writer's cramp	A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument.	20
X-linked dominant inheritance	A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.	62
X-linked inheritance	A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome.	256
X-linked recessive inheritance	A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.	181
Xanthelasma	The presence of xanthomata in the skin of the eyelid.	25
Xanthine nephrolithiasis	The presence of xanthine-containing calculi (stones) in the kidneys.	3
Xanthinuria	An increased concentration of xanthine in the urine.	4
Xanthomatosis	The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.	38
Xerostomia	Dryness of the mouth due to salivary gland dysfunction.	55
Y-linked inheritance	A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome.	18
Y-shaped metacarpals	Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly.	15
Yellow nails	Yellowish discoloration of the nails.	3
Yellow papule	A papule with yellow color.	4
Z-band streaming	Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disk may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change.	8
Zollinger-Ellison syndrome	A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration.	9
Zonular cataract	Zonular cataracts are defined to be cataracts that affect specific regions of the lens.	52
Zygotic cleavage failure	Failure of a fertilized oocyte to undergo the first round of cell division.	3