name: Reduced plasminogen activator inhibitor 1 activity

description: Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator.


Short phalanx of the thumb

category: biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: Hypoplastic (short) thumb phalanx.


Urinary oval fat bodies

description: The presence in the urine of desquamated tubular epithelial cells or macrophages filled with lipid droplets.


Double-layered patella

description: An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood.


Abnormality of upper lip vermillion

description: An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin.


name: Nonocclusive coronary artery atherosclerosis

description: Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries.


Preaxial polydactyly

description: A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe.


Abnormal judgment

description: Beliefs that deviate from what is considered rational or within the range of normal human judgment and belief formation.


Abnormal descending aorta morphology

description: A structural abnormality of the part of the aorta that begins at the aortic arch and then descends through the chest and abdomen.


Impairment of galactose metabolism

description: An impairment of galactose metabolism.


Panic attack

description: A sudden episode of intense fear in a situation where there is no danger or apparent cause.


Gingival hyperkeratosis

description: Hyperkeratosis of the gingiva.


Hypoplastic fifth toenail

description: Underdeveloped nails of the fifth toes.


Absent palmar crease

description: The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease).


Abnormal forebrain morphology

description: An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle.


Dilatation of renal calices

description: An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine.


cervix erosion

category: biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: Loss or destruction of the epithelial lining of the uterine cervix.


Abnormality of lateral pterygoid muscle

description: An abnormality of a lateral pterygoid muscle.


Unhappy demeanor

description: A noticeably unhappy disposition is characterized by negative assumptions, self-defeating talk, fear of failure, and negative rumination about past events.


Broad hallux

description: Visible increase in width of the hallux without an increase in the dorso-ventral dimension.


name: Duplication of the distal phalanx of the 2nd finger

description: Partial or complete duplication of the distal phalanx of index finger.


Abnormal second toe morphology

description: An anomaly of the second toe.


name: Abnormal vertebral segmentation and fusion


Curved middle phalanx of the 5th toe

description: A deviation from the normal straight form of the middle phalanx of the fifth toe.


Pancreatic aplasia

description: Aplasia of the pancreas.


Swiss cheese atrial septal defect

description: Multiple defects in the atrial septum.


larynx atresia

description: A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation.


Small intestinal bleeding

description: Bleeding from the small intestine.


name: Increased theta frequency activity in EEG

description: 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.


Abnormal HDL2b concentration

description: Any deviation from the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.


Spontaneous chorioamniotic separation

description: Persistence separation of the chorionic and amnionic membranes after the 16th week of gestation (not as a result of a procedure such as amniocentesis).


name: Recurrent bacterial upper respiratory tract infections

description: An increased susceptibility to bacterial upper respiratory tract infections as manifested by a history of recurrent bacterial upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).


name: Decreased post-bronchodilator forced expiratory flow 25-75%

description: 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. Here, the test is performed after the administration of a bronchodilating medication.


name: Pancreatic intraductal papillary mucinous neoplasm

description: Intraductal papillary mucinous neoplasm (IPMN) is an exocrine neoplasm of the pancreas consisting of epithelial cells growing within the pancreatic ducts (main pancreatic duct or its major branches) and producing mucin. IPMN is a mucin-producing pancreatic cystic tumor. IPMN contains epithelial cells that can create papillary projections.


name: Patchy sclerosis of the proximal phalanx of the 4th toe

description: Uneven increase in bone density of the proximal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.


Abnormal communication

description: Presence of any form of communication (e.g., verbal or non-verbal) that does not align with cultural expectations or developmental level.


name: Abnormal muscle fiber merosin expression

description: An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve.


Curved middle phalanx of the 2nd toe

description: A deviation from the normal straight form of the middle phalanx of the 2nd toe.


brachydactyly

description: A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms.


name: Complete duplication of the proximal phalanx of the 3rd toe

description: Complete duplication of proximal phalanx of third toe.


Aplasia of the lower vagina

description: A failure to develop of the lower part of the vagina.


Small anterior fontanelle

description: Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms.


name: Decreased circulating complement C4 concentration

description: Concentration of the complement component C4 in the blood circulation below the lower limit of normal.


name: Irregular ossification of humeral metaphyses


Increased hepatic echogenicity

description: Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device.


name: Anomalous origin of left subclavian artery

description: Origin of the left subclavian artery from an anomalous anatomical location.


Discordant atrioventricular connection

description: Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart.


name: Partial duplication of the distal phalanx of the 2nd finger

description: Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx.


Calcium phosphate crystalluria

description: The presence of calcium phosphate crystals in the urine.


name: Fractured distal phalanx of pedal digit 3

description: A partial or complete breakage of the distal phalanx of pedal digit 3.


Abnormal patella morphology

description: Abnormality of the patella (knee cap).


description: Fetal intra-abdominal umbilical vein varix (FIUVV) is defined by the focal dilatation of the fetal umbilical vein between its entry in the abdomen and its ending in the portal system. The dilatation can be defined using one of the following criteria: a portion of intra-abdominal umbilical vein that is at least 50% wider than the non-dilated portion; a dilatation of 9 mm or more, or a dilatation greater than 2 SD above the mean value for gestational age.


name: Aplasia of the middle phalanx of the 5th toe


Avulsion fractured tibia

description: A fractured in which a fragment of the tibia tears away from the main mass of bone as a result of physical trauma.


Unusual virus reactivation

description: 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.


Abnormal speech volume

description: Speech that is abnormally loud or quiet for the social context in which it is spoken.


Reduced amygdala volume

description: A decrease in the volume (size) of the amygdyla.


name: Abnormality of the epiphysis of the distal phalanx of the 4th toe


Decreased pulmonary fissure count

description: Lack of one or more of the normal pulmonary fissures.


name: Exaggerated rugosity of the labia majora

description: Marked rugae formation of the skin of the labia majora.


Anorectal abscess

description: An abscess located at the junction of the anal canal and the rectum.


Body ache

description: Body ache is a complaint that is often used to denote vague symptoms of mild fatigue, lethargy, or dull aches. We will define it here to mean a dull and poorly localizable pain that is described by the affected individual to affect multiple joints or body parts or even the entire body.


Reduced C-peptide level

description: 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.


name: Increased circulating thyroglobulin concentration

description: An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.


Temporal cortical atrophy

description: Atrophy of the temporal cortex.


Phenylalaninuria

description: Increased level of phenylalanine in urine.


Recurrent meningococcal disease

description: Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus.


name: Bullet-shaped middle phalanx of the 5th finger

description: Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected.


urethral obstruction

description: Blockage of the normal flow of urine in the urethra.


Elevated urinary butyric acid level

description: The amount of butyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.


Visceral hallucination

description: A type of hallucination that involves the perception of internal bodily sensations or processes that do not actually exist.


Aplasia of the 3rd metacarpal

description: Absence of the third long bone of the hand.


Homer Wright rosette

description: A type of rosette in which the central lumen or hub is filled with fiber-like processes.


Abnormal sperm mid-piece morphology

description: A structural abnormality of the sperm mid-piece.


Curved thumb phalanx

description: A deviation from the normal straight shape of a thumb phalanx.


name: Decreased circulating parathyroid hormone level

description: An abnormally decreased concentration of parathyroid hormone.


Vertebral artery calcification

description: An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the vertebral artery.


Enlarged tectum

description: Increasaed size of the tectum, which is the region of the midbrain posterior to the cerebral aqueduct of Sylvius. The midbrain is the most superior portion of the brainstem.


Pulmonary valve defects

description: Any defect in the valve connecting the heart and the pulmonary artery.


Bradypnea

description: Bradypnea is referring to breathing that is abnormally slow.


Cardiac teratoma

description: A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumor size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone.


Triplomyelia

description: Triplication of the spinal cord - extremely rare.


Penile thrush

description: Overgrowth of candida albicans in the penis.


name: Impaired collagen-induced platelet aggregation

description: Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics.


Abnormal adiponectin level

description: 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.


name: Fibrillar glomerular subepithelial deposits

description: Fibrillar 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 is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate).


Reduced lysosomal acid lipase activity

description: Reduction in the activity of lysosomal acid lipase (LAL) in the blood. Lysosomal lipase activity is measured. LAL hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins.


Aplasia cutis congenita of scalp

description: A developmental defect resulting in the congenital absence of skin on the scalp.


Inability to walk

description: Incapability to ambulate.


name: Focal aware emotional seizure with crying

description: Focal emotional seizure with crying (dacrystic)in which awareness is retained throughout.


Fractured sternoclavicular joint

description: A partial or complete breakage of the sternoclavicular joint.


name: Failure to elevate lactate upon ischemic exercise test

description: Failure to elevate lactate in blood washed out from ischemically exercised muscles as assayed by the forearm ischemic exercise test.


Everted antitragus

description: Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear).


Absent pulse

description: The pulsation of an artery where the pulse is taken (e.g. the radial artery at the wrist) cannot be detected on physical examination.


name: Left aortic arch with isolated subclavian artery

description: The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis.


name: Aplasia/Hypoplasia of the distal phalanx of the thumb


name: Abnormal circulating C-reactive protein concentration

description: Any deviation from the normal concentration of C-reactive protein in the blood circulation.


Abnormal frontal bone morphology

description: An abnormality of the frontal bone.


Shoulder muscle hypoplasia

description: Underdevelopment of muscles of the shoulder.


Temporal lobe calcification

description: The presence of calcium deposition within the temporal lobe of the brain.


ST segment depression

description: An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line.


name: Increased activity of mitochondrial respiratory chain


name: Decreased circulating dihydrotestosterone concentration

description: A reduced concentration of dihydrotestosterone in the blood circulation.


congestive splenomegaly

description: A chronic congestive enlargement of the spleen leading to the destruction of blood cells resulting in pancytopenia.


Insulin insensitivity

description: Decreased sensitivity toward insulin.


name: Asymmetric thickening of the nipple-areolar complex

description: Thickening of the skin around the nipple with a distribution that is not equal on all sides.


Fractured forearm bones

description: Bone fracture in the radius, ulna, or wrist.


Thickened cortex of bones

description: An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones.


name: Multinucleation of renal tubular epithelial cells

description: Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view.


Sertoli cell-only phenotype

description: A histological phenotype observed on testicular biopsy in which only Sertoli cells line the seminiferous tubules of the testis.


name: Increased circulating vitamin E concentration

description: Concentration of vitamin E in the blood circulation above the upper limit of normal.


Stiff knee

description: A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity.


name: Cone-shaped epiphysis of the middle phalanx of the 3rd finger

description: A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.


name: Positive fecal Clostridium botulinum test

description: Identification of Clostridium botulinum toxin in the feces.


name: Sclerosis of the middle phalanx of the 5th toe


Decreased acrosin in sperm head

description: A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process.


Bronchomegaly

description: Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection.


name: Elevated circulating hydroxyphenlyllactic acid concentration

description: An increased concentration of 4-hydroxyphenlyllactic acid in the blood circulation.


Aplasia of the sweat glands

description: Absence of the sweat glands.


Ileal atresia

description: An abnormal closure, or atresia of the tubular structure of the ileum.


Torsion of appendix of testis

description: The appendix testis or hydatid of Morgagni, is a vestigial remnant of the Müllerian duct located on the superior pole of the testicle between the testis and epididymis. Although this appendage has no vital function, it is present in 50% of males. Torsion of twisting of this vestigial remnant can be incredibly painful, but usually requires no medical intervention.


name: Elevated circulating C6 acylcarnitine concentration

description: Concentration of C6 acylcarnitines in the blood circulation above the upper limit of normal. C6 acylcarnitines have a six-carbon acyl chain.


Microphallus

description: Length of penis more than 2 SD below the mean for age accompanied by hypospadias.


Arterial occlusion

description: Blockage of blood flow through an artery.


Abnormal platelet aggregation

description: 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.


Distal humeral metaphyseal irregularity

description: Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow).


Pretragal ectopia

description: Variably shaped, cartilage-containing tissue anterior to the external auditory meatus.


name: Increased level of methylsuccinic acid in urine

description: The concentration of methylsuccinic acid in the urine, normalized for urine concentration, is above the upper limit of normal.


Thinking-induced seizure

description: Seizures induced by thinking and decision-making.


Absence of acoustic reflex

description: Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli.


Clonic seizure

description: A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.


Glomerular capillary wire loop deposits

description: Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop.


Tragal bridge of crus of helix

description: The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix.


Increased urinary glycerol

description: An increased concentration of glycerol in the urine.


Increased overbite

description: 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.


name: Elevated CSF guanidinoacetic acid concentration

description: The concentration of guanidinoacetic acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Vaginal bleeding during sex

description: Bleeding during sex.


brachydactyly type D

description: A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has material basis in mutation in the HOXD13 gene on chromosome 2q31.1.


Pressured speech

description: There has been an increase in the amount of spontaneous speech, which is generally continuous, rapid, loud, and difficult to interrupt. It may sometimes be incoherent and continue even when no one is listening.


Absent humeral epiphyseal ossification

description: Lack of formation of bone in the epiphysis of the humerus.


Non-necrotizing granuloma

description: A granuloma which is not associated with necrotic changes.


name: Cone-shaped epiphysis of the middle phalanx of the 4th finger

description: A cone-shaped appearance of the epiphysis of the middle phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.


Narrow nasal tip

description: Decrease in width of the nasal tip.


name: Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio

description: The relative concentration of tetrahydrocortisol plus 5-alpha-tetrahydrocortisol relative to that of tetrahydrocortisone is below the lower limit of normal.


Fetal trigonocephaly

description: A fetal ultrasound finding defined by flattening of the occiput with pointing of the frontal bones and brachycephaly with an increased cephalic index. It is characterized by keel shaped deformity of forehead with midline ridge, bilateral fronto temporal constriction with compensatory biparietal expansion, supra orbital and lateral orbital retrusion and hypotelorism. This finding is said to resemble a strawberry.


Bracket epiphysis of the 1st metacarpal

description: An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate.


Prominent median palatal raphe

description: Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate.


name: Increased urine pentacarboxylporphyrin level

description: Concentration of pentacarboxylporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Reduced circulating interleukin 9 concentration

description: An abnormally decreased concentration of interleukin 9 in the blood circulation.


lobar holoprosencephaly

description: Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally.


Aplastic colon

description: Congenital absence of the colon


Abnormal cerebrospinal fluid morphology

description: An abnormality of the cerebrospinal fluid (CSF).


name: Partial duplication of the proximal phalanx of the 3rd finger

description: Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.


name: Triangular epiphysis of the middle phalanx of the 3rd finger

description: A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.


description: Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, and in association with other features.


Aortic valve leaflet calcification

description: Deposition of calcium salts in the leaflets (cusps) of the aortic valve.


Mid-frequency hearing loss

description: A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz).


Abnormal gesture use

description: Abnormality in the use of gestures defined as hand, shoulder, and head movements that convey a shared meaning within a culture that replace or supplement verbal communication.


name: Abnormality of the shoulder girdle musculature


Frontal venous angioma

description: A venous angioma of the frontal lobe of the brain.


name: Reduced level of N-acetylglucosaminyltransferase II

description: An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity.


name: Aplasia/Hypoplasia of the phalanges of the 4th finger


name: Ivory epiphysis of the proximal phalanx of the 2nd toe


Abnormality of the pineal gland

description: An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin.


name: Lack of gonadotropin-releasing hormone pulsatility

description: Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion.


name: Postlingual sensorineural hearing impairment

description: A form of sensorineural hearing impairment with onset after the acquisition of speech.


Telangiectasia of the oral mucosa

description: Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa.


name: Fragmentation of the epiphysis of the proximal phalanx of the 4th toe


Abnormal biliary tract morphology

description: A structural abnormality of the biliary tree.


name: Multilamellation of cortical peritubular capillary basement membranes

description: Duplicated basement membranes of the peritubular capillaries located in the cortex of the kidney and arranged in multiple concentric layers.


Autoimmune antibody positivity

description: The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.


name: Dilatation of Inferior mesenteric artery

description: Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery .


name: Symphalangism affecting the proximal phalanx of the 5th toe


name: Elevated urinary isovalerylglycine level

description: The amount of isovalerylglycine in the urine, normalized for urine concentration, is above the upper limit of normal.


Decorticate rigidity

description: A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus.


Hemiatrophy of upper limb

description: Unilateral atrophy (reduction in size) of an arm.


Atrial situs inversus

description: Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side.


name: Focal aware orofacial automatism seizure

description: A type of focal automatism seizure characterized by orofacial automatisms at onset and during which awareness is fully retained throughout.


name: Increased urinary multiantennary sialylated oligosaccharide

description: An abnormal increase in the concentration of multiantennary sialylated oligosaccharides in the urine.


Abnormal muscle fiber-type distribution

description: 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


name: Abnormal circulating CC chemokine concentration

description: The concentration in the blood circulation of a member of the CC chemokine family is outside of normal limits.


laryngostenosis

description: Narrowing of the laryngeal airway.


name: Elevated circulating C18 acylcarnitine concentration

description: Concentration of C18 acylcarnitines in the blood circulation above the upper limit of normal. C18 acylcarnitines have a eighteen-carbon acyl chain.


Typical absence status epilepticus

description: Typical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged typical absence seizure.


Abnormal placental membrane morphology

description: 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.


Gustatory agnosia

description: People cannot identify tastes, even though they can experience them.


Elevated residual volume

description: Increase in the amount of air remaining in a person's lungs after full exhalation.


Type IV truncus arteriosus

description: Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present.


name: Abnormal circulating valine concentration

description: Any deviation from the normal circulation of valine in the blood circulation.


name: Enlarged epiphysis of the 1st metatarsal


Dependency on parenteral nutrition

description: Inability to ingest sufficient quantities of nutrition by mouth or by tube-feeding with the corresponding requirement for intravenous administration of nutrition.


Elevated brain creatine level by MRS

description: An increase in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).


Arcuate vein intimal mucoid edema

description: Accumulation of edematous extracellular matrix in the inner layer (intima) of arcuate veins of the kidney. The material resembles mucus and appears pale blue on hematoxylin and eosin staining.


Epispadias

description: 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.


name: Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity


Abnormal tarsal bone mineral density

description: 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.


congenital laryngeal cyst

description: Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia.


Nut food product allergy

description: Hypersensitivity in form of an adverse immune reaction against nut food products.


Nevus flammeus nuchae

description: Naevus flammeus localized in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns.


Chronic cough

description: A persistent cough, defined as a cough lasting longer than eight weeks in adults or longer than four weeks in children.


Dysplasia of the femoral head

description: The presence of developmental dysplasia of the femoral head.


Abnormal posturing

description: Involuntary flexion or extension of the arms and legs.


Very preterm birth

description: Birth before 32 completed weeks of gestation (28 up to but not including 32 weeks).


name: Dysfunction of lateral corticospinal tracts


Increased fecal isocoproporphyrin

description: Abnormally high concentration of isocoproporphyrin in feces.


Absent axillary hair

description: Absence of axillary hair.


Abnormal renal pelvis morphology

description: An abnormality of the renal pelvis.


Aplasia/Hypoplasia of fingers

description: Small/hypoplastic or absent/aplastic fingers.


name: Decreased mitochondrial complex III activity in liver tissue

description: Decreased activity of complex III of the mitochondrion in the liver.


Dislocated radial head

description: A dislocation of the head of the radius from its socket in the elbow joint.


Abnormal odontoid tissue morphology

description: An abnormality of an odontoid tissue.


Feeding difficulties

description: Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.


Absent malleus

description: Aplasia of the malleus.


name: Patchy sclerosis of the middle phalanx of the 3rd finger

description: Uneven (irregular) increase in bone density of the middle phalanx of the third finger.


Rest limb pain

description: Rest pain is a continuous unrelenting pain due to ischemia of the lower leg, beginning with or being aggravated by elevation and being relieved by sitting with legs in a dependent position or by standing.


Unilocular ovarian cyst

description: An ovarian cyst without septa and a solid component.


name: Duplication of the distal phalanx of the 5th toe

description: Partial or complete duplication of the distal phalanx of little toe.


Anomalous pulmonary venous return

description: 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.


name: Abnormal CSF branched chain amino acid concentration

description: Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid.


Chordee

description: Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees.


name: Anti-transcription intermediary factor-1gamma antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transcription intermediary factor-1gamma.


Fractured sternum

description: A partial or complete breakage of the sternum.


splenic infarction

description: Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed)


name: Abnormality of circulating beta-2-microglobulin level

description: A deviation from the normal concentration of beta-2-microglobulin in the blood.


Abnormal atrioventricular connection

description: An abnormality of the circulatory connection between atria and ventricles.


Lactescent serum

description: Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level.


name: Partial duplication of the distal phalanx of the 4th finger

description: Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx.


Triceps aplasia

description: Absence of the triceps muscle.


name: Absence of large von Willebrand factor multimers

description: Absence of large von Willebrand Factor multimers on gel electrophoresis.


Pruritus vulvae

description: A sensation of itching in the vulvar region.


Cupped ear

description: Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).


name: Abnormal circulating interferon-gamma concentration

description: Abnormal levels of interferon gamma measured in the blood circulation.


name: Decreased circulating nicotinamide adenine dinucleotide-cytochrome b5 reductase activity

description: The activity of nicotinamide adenine dinucleotide (NADH)-cytochrome b5 reductase in the blood circulation is below the lower limit of normal.


Limited hip extension

description: 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.


name: Anti-chlamydia psittaci antibody positivity

description: The presence of antibodies in the blood circulation that react against a component of chlamydia psittaci.


Decreased level of D-mannose in urine

description: A decrease in the level of D-mannose in the urine.


Salt craving

description: Hypersalivation, also known as salt craving, refers to an excessive desire to consume salt (sodium chloride) or salty foods.


name: Anti-Japanese encephalitis virus-specific antibody positivity

description: The presence of antibodies in the blood circulation that react against a component of the Japanese encephalitis virus.


Proximal fibular overgrowth

description: Overgrowth of the proximal part of the fibula.


name: Abnormal peripheral nervous system physiology

description: Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.


Light-chain paraproteinemia

description: An abnormal immunoglobulin light chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.


Unossified sacrum

description: Lack of ossification of the sacrum.


Pneumomediastinum

description: The presence of free air in the mediastinum.


Airway casts

description: A replicate of airways from accumulated and condensed mucous and cellular material. These semisolid occlusions take the shape of the airway within they are formed, leading to obstruction of the tracheobronchial tree with consecutive respiratory insufficiency. Based on their principal composition, one can differentiate fibrin casts and mucin casts. Plastic bronchitis is the name of the condition characterized by the formation of airway casts.


name: Expanded metacarpals with widened medullary cavities


name: Generalized convulsive status epilepticus

description: A type of bilateral convulsive seizure of generalized onset that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus.


name: Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe


Impaired toileting ability

description: This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode.


Widely patent coronal suture

description: The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed.


name: Aplasia/Hypoplasia involving the musculature of the upper arm

description: Absence or underdevelopment of the muscles of the upper arm.


AV nodal tachycardia

description: A type of supraventricular tachycardia that originates in the atrioventricular node.


Impaired clot retraction

description: 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.


name: Irregular epiphysis of the proximal phalanx of the thumb

description: Irregular radiographic opacity of the epiphysis of the 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.


name: Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis

description: A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. 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.


Anti-CV2/CRMP5 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CV2/CRMP5. Anti-CV2/CRMP5 autoantibody is the most commonly detected anti-neuronal autoantibody. Patients with typical paraneoplastic chorea show fully developed chorea in the course of weeks to months with acute inflammation in the striatum.


name: Absent pigmentation of the ventral chest

description: Lack of skin pigmentation (coloring) of the anterior chest.


Congenital megaureter

description: A developmental disturbance with extreme ureteral dilatation.


name: Abnormal circulating amylase concentration

description: 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.


Abnormal seventh cranial physiology

description: Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve.


Pulmonary necrosis

description: Cellular death affecting one or more parts of the lung. Necrosis is caused by diverse external and internal factors which result in the unregulated digestion of cell components.


name: Duplication of the distal phalanx of the 2nd toe

description: Partial or complete duplication of the distal phalanx of second toe.


Elevated terminal:vellus ratio

description: An increased proportion of terminal hairs compared to vellus hairs.


Retrocollis

description: 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.


name: Abnormality of reproductive system physiology

description: An abnormal functionality of the genital system.


Anti-GFAP antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glial fibrillary acidic protein (GFAP).


Anti-Ro52/TRIM21 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro52/TRIM21.


name: Enlargement of the costochondral junction

description: 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.


name: Shortening of all middle phalanges of the fingers

description: Short, hypoplastic middle phalanx of finger, affecting all fingers.


name: Abnormal peripheral nervous system ganglion morphology

description: An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system.


Nodular pattern on pulmonary HRCT

description: 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.


name: Decreased level of tissue plasminogen activator

description: The tPA protein catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis


Hypoplasia of the small intestine

description: Underdevelopment of the small intestine.


Delusion of control

description: A false belief that another person, group of people, or external force controls one's general thoughts, feelings, impulses, or behaviors.


Post-vaccination measles

description: Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases.


cutaneous leiomyosarcoma

description: An aggressive malignant smooth muscle neoplasm, arising from the skin. It is characterized by a proliferation of neoplastic spindle cells.


Impaired distal vibration sensation

description: A decrease in the ability to perceive vibration in the distal portions of the limbs.


Joint crepitus

description: A popping, clicking or crackling sound that accompaniees movement of a joint.


Aortic elastic fiber thinning

description: A thinning out of elastic fibers of the media of the aorta that creates widening of intralamellar spaces, as identified on a stain for elastic fibers.


Cone-shaped metacarpal epiphyses

description: 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.


Aplasia/Hypoplasia of the clavicles

description: Absence or underdevelopment of the clavicles (collar bones).


EEG with spike-wave complexes (<2.5 Hz)

description: The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG).


name: Reduced isovaleryl CoA dehydrogenase activity in cultured fibroblasts

description: Acitivity of isovaleryl-CoA dehydrogenase (EC 1.3.99.10) below the lower limit of normal in cultured fibroblasts.


name: rosette-forming glioneuronal tumor of fourth ventricule

description: A central nervous system neoplasm mostly occurring in the fourth ventricle region. It is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. Cytologic atypia is minimal.


Wide cavum septum pellucidum

description: Width of the cavum septum pellucidum above the upper limit of normal, which is defined as a separation of greater than one cm of the leaves of the cavum septum pellucidum.


Tongue fasciculations

description: Fasciculations or fibrillation affecting the tongue muscle.


Posterolateral diaphragmatic hernia

description: 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.


name: Aplasia/Hypoplasia of the middle phalanges of the toes


name: Abnormal circulating arginine concentration

description: Any deviation from the normal concentration of arginine in the blood circulation.


Decreased serum estradiol

description: A reduction below normal concentration of estradiol in the circulation.


Excessive eye contact

description: Tendency to maintain sustained eye contact for an inappropriately long period of time.


name: Duplication of the proximal phalanx of the 4th toe

description: Partial or complete duplication of the proximal phalanx of fourth toe.


Focal emotional seizure

description: 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.


name: Disseminated infection with live vaccine virus

description: A dissemination viral infection caused by a live attenuated vaccine virus.


Broad 4th toe

description: A broad appearance of the fourth toe.


name: Decreased immunoglobulin level in body fluid

description: An reduction from normal levels of immunoglobulins in body fluids, such as mucous.


Craniofacial osteosclerosis

description: Abnormally increased density of craniofacial bone tissue.


Abnormality of mesenteric lymph nodes

description: A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery.


name: Status epilepticus without prominent motor symptoms

description: 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.


hymen, imperforate

description: 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.


Increased complex N-glycan level

description: An abnormal increase in the concentration of complex N-glycans on glycoproteins.


Shoulder external rotation contracture

description: A type of shoulder contracture characterized by decreased internal rotation of shoulder, that is, by a chronic reduction in active and passive ability to internally rotate the humerus at the shoulder joint (if the arm is flexed at the elbow, Internal rotation of the shoulder rotates the forearm towards the center of the body).


Hawkinsinuria

description: The concentration of hawkinsin in the urine, normalized for urine concentration, is above the upper limit of normal.


Positive meconium barbiturate test

description: Detection of barbiturate metabolites such as phenobarbital in meconium.


Lhermitte's sign

description: An electric shock-like sensation that occurs on flexion of the neck. This sensation radiates down the spine, often into the legs, arms, and sometimes to the trunk.


Inferior pubic ramus hypoplasia

description: Underdevelopment of the lower branch of the pubis bone (inferior pubic ramus).


Broad humeral epiphyseal plate

description: Increased width of the humeral epiphyseal growth plate.


name: Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis

description: A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying 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.


name: Abnormal morphology of right ventricular trabeculae

description: Any structural anomaly of the muscular columns which project from the inner surface of the right ventricle of the heart (cardiac trabeculae, trabeculae carneae).


name: Impairment of the reflex of the tensor tympani muscle


Bile duct polyp

description: An elevated growth from the the mucosa of the bile duct.


Focal T2 hypointense thalamic lesion

description: 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.


Increased female libido

description: Elevated sexual desire in female


name: Reduced sulfide:quinone oxidoreductase activity

description: Reduced activity of the enzyme sulfide:quinone oxidoreductase, which typically is measured in a biopsy specimen from liver or muscle.


Prominent subcalcaneal fat pad

description: Abnormally increased prominence of the fat pad underneath the heal. This feature can be appreciated in figure 1 of PMID:26769062.


name: Abnormality of the vertebral spinous processes


name: Elevated circulating parathyroid hormone level

description: An abnormal increased concentration of parathyroid hormone.


name: Decreased specific pneumococcal antibody level

description: The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci.


Chondritis of pinna

description: Inflammation of the cartilage of the external ear.


Positive methadone plasma/serum test

description: Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in plasma or serum.


name: Abnormal morphology of the abdominal musculature

description: An abnormality of the abdominal musculature.


Hypnagogic hallucination

description: Hypnagogic hallucinations are brief hallucinations that occur as you are falling asleep.


Iliac crest serration

description: Irregularities of the iliac crest that produce the appearance of a lace border around it.


Abnormal renal corpuscle morphology

description: Any anomolous 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.


Anti-GQ1b IgM antibody positivity

description: The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b.


name: Anti-acetylcholine receptor antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury.


name: Discrete 2 to 5-mm hyper- and hypopigmented macules


Polymorphic vesicular eruption

description: A type of vesicular eruption in which the vesicles are at different stages.


Short uvula

description: Decreased length of the uvula.


Episodic flaccid weakness

description: Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching.


name: Enlarged sagittal diameter of the cervical canal


Dependency on intravenous nutrition

description: Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status.


Abnormal circulating T4 concentration

description: 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).


name: Triangular epiphysis of the 1st metatarsal


EEG with changes in voltage

description: EEG with abnormal amplitude.


Deja vu aura

description: A subjective feeling that an experience which is occurring for the first time has been experienced before.


Abnormal hand morphology

description: Any structural anomaly of the hand.


Abdominal situs inversus

description: A left-right reversal (or "mirror reflection") of the anatomical location of the viscera of the abdomen.


Short forearm

description: Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm.


Labile Hypertension

description: Frequent fluctuations of blood pressure between normal and high levels, changing more dramatically than normal.


Decreased proportion of memory T cells

description: An abnormally reduced proportion of memory T cells compared to the total number of T cells in the blood.


name: Abnormality of muscle of facial expression

description: An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression.


Hyperactive bowel sounds

description: Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines.


Impairment in personality functioning

description: A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning.


Triangular mouth

description: The presence of a triangular form of the mouth.


Elevated urine keto acid level

description: Increased amount of a keta acid in the urine.


cor triatriatum dexter

description: A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue.


Muscle fiber tubular inclusions

description: 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.


Severe generalized osteoporosis

description: Severe degree of osteoporosis.


Aplasia of the olfactory bulb

description: Lack of formation (congenital absence) of the olfactory bulb.


neurofibroma of the heart

description: A rare neurofibroma that affects the heart.


Abnormal pyramidal sign

description: Functional neurological abnormalities related to dysfunction of the pyramidal tract.


name: Arcuate vein intima/media crystal accumulation

description: Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arcuate veins of the kidney.


Abnormal quality of facial expression

description: Spontaneous production of communicative facial expressions that have poor quality or are exaggerated or muted.


Lacticaciduria

description: An increased concentration of lactic acid in the urine.


High pulse pressure

description: Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).


Intermittent painful muscle spasms

description: History of repeated intermittent involuntary muscle contractions that were painful.


Jaw mass

description: A swelling or enlargment localized to the jaw. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.


Aplasia/Hypoplasia of the tongue

description: Absence or underdevelopment of the tongue.


Recurrent deep organ abscess formation

description: Repeated episodes of the formation of abscesses in organs. An abscess is a circumscribed area of pus or necrotic debris in the parenchyma or an organ.


Premature epimetaphyseal fusion in foot

description: Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.


description: The presence of antibodies in the blood circulation that react against a component of Varicella-zoster virus.


Abnormal pulmonary artery physiology

description: An abnormality of the function of the pulmonary artery.


name: Bracket epiphysis of the distal phalanx of the 3rd toe


Moderate conductive hearing impairment

description: The presence of a moderate form of conductive hearing impairment.


Decreased CSF arginine concentration

description: Abnormally decreased levels of arginine in cerebrospinal fluid.


name: Focal impaired awareness emotional seizure with anger

description: Focal emotional seizure with anger in which awareness is partially or fully impaired at some point during the seizure.


name: Increased circulating farnesol concentration

description: An elevated level of farnesol in the blood circulation.


Poorly ossified cervical vertebrae

description: Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set.


Greater auricular nerve thickening

description: Increase in thickness of the great auricular nerve, a cutaneous nerve of the head. It originates from the cervical plexus, with branches of spinal nerves C2 and C3. Thickening may lead to the nerve being palpable or even visible in this region.


Coronary cameral fistula

description: An abnormal communication between coronary artery and a cardiac chamber.


Abnormal cardiac index

description: Any deviation from the normal value of the cardiac index, defined as cardiac output divided by body surface area.


Agyria

description: 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.


Myofiber disarray

description: A nonparallel arrangement of cardiac myocytes.


Aplasia/Hypoplasia of the tibia

description: Absence or underdevelopment of the tibia.


Gallbladder enlargement

description: Abnormal increased in the thickness of the size of the gallbladder.


Long neck

description: Increased inferior-superior length of the neck.


Abnormal proportion of immature B cells

description: A deviation from normal proportion of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).


Abnormal intervertebral disk morphology

description: Any structural abnormality of the intervertebral disk.


name: Increased circulating interleukin 5 concentration

description: An increased concentration of interleukin-5 in the blood circulation.


name: Neonatal seizure with unilateral automatism

description: Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, occurring at one side of the body.


Ovarian mass

description: A swelling or enlargment localized to the ovary. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.


name: Elevated circulating short-chain acylcarnitine concentration

description: 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),


Fusion of the left and right thalami

description: A developmental defect characterized by fusion of the left and right halves of the thalamus.


Fractured facial bone

description: A partial or complete breakage of the facial bone.


name: Abnormality of the somatic nervous system

description: Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements.


Abnormal ear morphology

description: Any structural anomaly of the ear.


Increased HDL3a concentration

description: An elevation above the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.


Hand muscle weakness

description: Reduced strength of the musculature of the hand.


Meconium xenobiotic

description: Presence of a xenobiotic in meconium.


Abnormal dura mater morphology

description: An abnormality of the Dura mater.


Periapical tooth abscess

description: A tooth abscess that occurs at the tip of the root (apex) of a tooth.


Gerbode ventricular septal defect

description: A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve.


Hypoplastic helices

description: Underdevelopment of the helix, i.e., of the outer rim of the pinna.


name: Stippling of the epiphyses of the 3rd finger

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger.


name: Abnormal circulating free fatty acid concentration

description: Any deviation from the normal concentration of a free fatty acid in the blood circulation.


Usual-type tubular atrophy

description: A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis.


Agenesis of the small intestine

description: Failure to develop of the small intestine.


Increased circulating free T3

description: An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.


name: Decreased adipose tissue tocopherol level

description: A reduced concentration of tocopherol in fat tissue.


Dysharmonic delayed bone age

description: A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones.


Fused thoracic vertebrae

description: A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another.


Bilateral cryptorchidism

description: Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.


Hand clenching

description: 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.


Decreased CSF glycine concentration

description: Abnormally decreased levels of glycine in cerebrospinal fluid.


Glomerular synechial adhesion

description: An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis.


name: Abnormal CSF serine family amino acid concentration

description: Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid.


name: Abnormal circulating methionine concentration

description: Any deviation from the normal concentration of methionine in the blood circulation.


Aplasia/hypoplasia of the uterus

description: Absence or developmental hypoplasia of the uterus.


name: Abnormality of peripheral somatosensory evoked potentials


name: Focal aware cognitive seizure with dyscalculia/acalculia

description: A focal cognitive seizure with dyscalculia and or acalculia characterized by retained awareness throughout the seizure.


Abnormality of lingual tonsil

description: An abnormality of a lingual tonsil.


Focal impaired awareness atonic seizure

description: A focal atonic seizure in which awareness is partially or fully impaired at some point during the seizure.


Rhonchi

description: Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds.


name: Grade III preterm intraventricular hemorrhage

description: Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles.


name: Enteric intraneuronal nuclear inclusion bodies

description: Aggregates of stainable substances (proteins) in the nuclei of enteric neurons.


Fused nails

description: A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature.


46,XY sex reversal 11

description: Any 46,XY complete gonadal dysgenesis in which the cause of the disease is a mutation in the DHX37 gene.


Depressed nasal bridge

description: Posterior positioning of the nasal root in relation to the overall facial profile for age.


Abnormal periodontium morphology

description: Any abnormality of the periodontium.


name: Elevated circulating creatinine concentration

description: An increased amount of creatinine in the blood.


Dermal immune complex deposition

description: Accumulation of antigen-bound antibody in the skin.


Decreased plasma free carnitine

description: A decreased concentration of free (unbound) carnitine in the blood.


Visceral epithelial hyaline droplets

description: Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells.


Aplasia/Hypoplasia of the vagina

description: Aplasia or developmental hypoplasia of the vagina.


name: Reduced liver 2,4-dienoyl-CoA reductase activity

description: Diminished activity of the enzyme 2,4-dienoyl-CoA reductase in liver tissue.


Decreased hepatic echogenicity

description: Reduced echogenicity of liver tissue on sonography, manifested as an increased amount of black on the screen of the sonography device.


Addictive methylphenidate use

description: Addiction to methylphenidate.


Aplasia of lymphatic vessels

description: Aplasia (absence) of the lymphatic vessels.


Abnormal CSF biopterin concentration

description: Abnormal concentration of biopterin in the cerebrospinal fluid (CSF).


Unifocal splenic abscess

description: Single (solitary) abscess in the spleen.


name: Elevated circulating creatine concentration

description: An elevation above the normal range of creatine in the blood circulation.


name: Fragmentation of the epiphyses of the 4th toe


Increased globoside Gb4 level

description: An abnormal increase in the concentration of globoside Gb4.


Abnormal putamen morphology

description: Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum.


Mottled pigmentation

description: Patchy and irregular skin pigmentation.


Asynergia

description: A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed.


name: Elevated circulating alpha-ketoglutarate concentration

description: The concentration of alpha-ketoglutarate in the blood circulation is above the upper limit of normal.


Osteopathia striata

description: 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.


anencephaly 1

description: Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.


name: Anti-West Nile virus antibody positivity

description: The presence of antibodies in the blood circulation that react against a component of the West Nile virus.


Paramedian lip pit

description: Depression located paramedially on the vermilion of a lip.


name: Elevated amniotic fluid alpha-fetoprotein

description: An elevation of alpha-feto protein measured in the amniotic fluid.


Abnormal pubic bone morphology

description: 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.


Central apnea

description: Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow.


name: Stippling of the epiphysis of the distal phalanx of the 5th toe

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 5th toe.


Susceptibility to chickenpox

description: Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox.


name: Triangular shaped distal phalanx of the 3rd finger

description: Triangular shaped distal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Necrotizing vasculitis

description: A histopathological finding characterized by inflammation of the arterial and/or capillary and/or venous blood vessels, leading to a change in the vascular wall as a whole.


name: Focal impaired awareness sensory seizure

description: A focal sensory seizure in which awareness is partially or fully impaired at some point during the seizure.


Abdominal wall muscle weakness

description: Decreased strength of the abdominal musculature.


name: Abnormal pulmonary alveolar system morphology

description: A structural abnormality of the pulmonary acinus, alveolar parenchyma, or alveoli.


name: congenital multicore myopathy with external ophthalmoplegia

description: An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as "minicores" on ATPase staining as a result of focal defects in oxidative activity.


name: Abnormality of urine calcium concentration

description: An abnormality of calcium concentration in the urine.


Positive urine norpropoxyphene test

description: Detection of norpropoxyphene in urine.


Impaired renal concentrating ability

description: A defect in the ability to concentrate the urine.


Skin-colored papule

description: A papule with the same color as the surrounding skin.


Echogenic fetal bowel

description: Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone.


Erratic myoclonus

description: 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.


name: Reduced alpha-N-acetylgalactosaminidase activity in cultured fibroblasts

description: Concentration or activity of alpha-N-acetylgalactosaminidase (EC 3.2.1.49) as measured in cultured fibroblasts is below the limits of normal.


name: Increased aspartate family amino acid level in urine

description: An elevated level of an aspartate family amino acid in the urine.


Paramesangial deposits

description: Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane.


Abnormal CSF glutamine concentration

description: Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid.


Coronary sinus atrial septal defect

description: An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus.


name: Aplasia of posterior communicating artery

description: A developmental anomnaly characterized by the lack of development of the posterior communicating artery.


Bifid first metacarpal

description: Partial duplication of the first metacarpal bone.


Small epiphysis of the 1st metacarpal

description: Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms.


Mild neurosensory hearing impairment

description: The presence of a mild form of sensorineural hearing impairment.


name: Bicarbonate-wasting renal tubular acidosis


Splenic necrosis

description: Cell dealth (necrosis) located in the spleen.


name: Recurrent trauma-related distressing dreams

description: Recurrent distressing dreams occur when the content and/or emotional impact of the dream is connected to a traumatic event or events.


P pulmonale

description: The presence of tall, peaked P waves in EKG lead II.


Short fourth metatarsal

description: Short fourth metatarsal bone.


Recurrent intrapulmonary hemorrhage

description: A recurrent hemorrhage occurring within the lung.


Solid pulmonary nodule

description: A type of pulmonary nodule whose density obscures the underlying parenchyma and thus has a "solid" appearance.


name: Reduced circulating transferrin concentration

description: An abnormally decreased concentration of transferrin in the blood circulation.


name: Renal tubular herpes simplex virus inclusions

description: Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis.


Risky behavior

description: Engaging in dangerous, risky, and potentially self-damaging activities, without considering the consequences, is a sign of recklessness. It involves a disregard for one's limitations and a denial of personal danger.


name: Elevated circulating very long-chain acylcarnitine concentration

description: Concentration of very 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. Very long-chain acylcarnitines have twentyone or more carbon atoms in the acyl-chain (C21 and higher),


Short distal phalanx of the 2nd finger

description: Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger.


Elevated urinary histamine level

description: The amount of histamine in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Elevated circulating vitamin B6 concentration

description: An abnormally increased concentration of vitamin B6 in the blood circulation.


Aplasia/Hypoplasia of the premaxilla

description: Absence or underdevelopment of the premaxilla.


name: Focal impaired awareness seizure with dissociation at onset

description: A focal cognitive epileptic seizure with dissociation at the onset of the seizure and with impairment of awareness at at some point during the seizure.


Abnormal T cell subset distribution

description: Any abnormality in the proportion T cells subsets relative to the total number of T cells.


EEG with occipital focal spikes

description: EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region.


name: Reduced hepatic glucose-6-phosphatase activity

description: Activity of glucose-6-phosphatase (EC 3.1.3.9) in the liver below the lower limit of normal.


name: Reduced circulating interleukin 23 concentration

description: An abnormally decreased concentration of interleukin 23 in the blood circulation.


name: Decreased proportion of CD4-positive, alpha-beta memory T cells

description: 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.


name: Femoral bowing present at birth, straightening with time

description: Congenital onset bending or abnormal curvature of the femur that normalizes with age.


Mulberry molar

description: Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry.


Irregular epiphyses of the 4th finger

description: Irregular radiographic opacity of the epiphyses of the 4th finger.


Positive stool occult blood test

description: The presence of hidden (occult) blood in the stool.


Abnormal CSF glycine concentration

description: Any deviation from the normal concentration of glycine in the cerebrospinal fluid.


Increased arm span

description: 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).


name: Abnormal circulating aspartate family amino acid concentration

description: Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation.


Fractured distal phalanx

description: A partial or complete breakage of the distal phalanx.


name: Elevated CSF 5-hydroxymethyluracil concentration

description: The concentration of 5-hydroxymethyluracil in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Self-mutilation

description: Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die.


Increased urinary hexanoic acid level

description: The concentration of hexanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Bullet-shaped proximal phalanx of the 5th toe

description: An abnormal morphology of the proximal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Abnormal lip morphology

description: An abnormality of the lip.


name: Muscle fiber calsequestrin 1-containing inclusion bodies

description: The presence of inclusion bodies within the cytoplasm of muscle cells that demonstrate immunoreactivity for calsequestrin 1.


name: Unilateral absence of pectoralis major muscle

description: Aplasia (congenital absence) of the pectoralis minor on only one side of the chest.


name: Aplasia/Hypoplasia of the corpus callosum

description: Absence or underdevelopment of the corpus callosum.


Small intestine mass

description: A swelling or enlargment localized to the small intestine. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.


name: Increased circulating alpha-mannosidase activity

description: Concentration or activity of alpha mannosidase above the upper limit of normal in the blood circulation.


Anti-Ma antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma.


Mesenteric cyst

description: A closed fluid filled sac originating from the mesentary.


Neutral hyperaminoaciduria

description: The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine.


2-4 toe cutaneous syndactyly

description: A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4.


name: Anti-U1 ribonucleoprotein antibody positivity

description: The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP.


Lack of interest in peers

description: Lack of interest in peers of comparable age and social groups is evident when an individual, such as a child, shows more interest in socializing with adults rather than children their own age.


Left atrial isomerism

description: In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest.


Type I transferrin isoform profile

description: 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.


Periorbital purpura

description: Multiple red/purple spots on the skin that surrounds the eyes that do not blanch (whiten) upon pressure. Purpura is caused by subcutaneous bleeding.


Aplasia/Hypoplasia of metatarsal bones

description: Absence or underdevelopment of the metatarsal bones.


Conical maxillary incisor

description: An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both.


name: Metachromatic intraneuronal lipid deposits

description: Accumulation of metachromatically staining lipid material in neurons. This finding is typically ascertained in a peripheral nerve.


Abnormal labia minora morphology

description: An anomaly of the labia minora, the folds of skin between the outer labia.


name: Rhomboid or triangular shaped 5th finger distal phalanx

description: Rhomboid or triangular shaped 5th (little) finger distal phalanx.


name: Impaired renal tubular reabsorption of glucose

description: Increased fractional excretion (FE) of glucose in the urine. The FE of glucose is the percentage of the glucose filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine glucose, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption.


Dural tail sign

description: This sign represents thickening and enhancement of the dura mater in continuity with a mass, which on MR images, gives the appearance of a tail arising from the mass. The dural tail is thought to represent reactive change; however, it may also be due to tumor invasion. Three criteria need to be met for a positive dural tail sign: the tail should be seen on two successive images through the tumor, it should taper away from the tumor, and it must enhance more than the tumor.


name: Pseudoepiphysis of the proximal phalanx of the 2nd finger

description: A secondary ossification center in the proximal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.


Hyperextensible skin

description: A condition in which the skin can be stretched beyond normal, and then returns to its initial position.


Upper extremity joint dislocation

description: Displacement or malalignment of one or more joints in the upper extremity (arm).


Leung cusp

description: An additional cusp located in the middle of the occlusal surface.


Adactyly

description: The absence of all phalanges of all the digits of a limb and the associated soft tissues.


name: Eosinophilic infiltration of the esophagus

description: 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.


Large keratohyaline granules

description: Abnormally large keratohyalin granules (KHG). KHG are typically present in the stratum granulosum of the epidermal layer of the skin (and epithelium of the mucosae). KHG are protein structures found in the keratinocytes of the stratum granulosum.


Radiculomegaly

description: Tooth root length more than 2 SD above mean, or subjectively apparently increased tooth root length.


Vasculitis by histology

description: Vasculitis categorized according to type of histological abnormality.


Narrow philtrum

description: Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum.


name: Decreased circulating adenosylcobalamin concentration

description: 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.


name: Small epiphysis of the middle phalanx of the 3rd toe


name: EEG with temporal epileptiform discharges

description: Focal epileptiform EEG discharges recorded in the temporal region.


name: Absent epiphysis of the middle phalanx of the 4th toe


Oval face

description: A face with a rounded and slightly elongated outline.


Splenic calcification

description: Calcification, that is, pathological deposition of calcium salts in the spleen.


Elevated urine suberylglycine level

description: Level of suberylglycine in urine above upper limit of normal.


name: Abnormality of the proximal phalanx of the 3rd finger


Atypical perifissural nodule

description: A perifissural nodule that does not have contact with the interlobar septum (and is therefore considered atypical).


Tachypnea

description: Very rapid breathing.


Abnormal long bone morphology

description: An abnormality of size or shape of the long bones.


name: Irregular epiphysis of the distal phalanx of the 4th toe


Praxis-induced seizure

description: A seizure precipitated by complex, cognition-guided tasks often involving visuomotor coordination and decision-making.


name: Reduced circulating dopamine beta-hydroxylase activity

description: Concentration of Dopamine beta-hydroxylase (DBH; EC 1.14.17.1) in the blood circulation below the lower limit of normal. DBH catalyzes the oxidative hydroxylation of dopamine to norepinephrine.


Increased cardiac index

description: An elevated cardiac index, defined as cardiac output divided by body surface area.


Narrow foramen obturatorium

description: 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.


Paroxysmal tachycardia

description: An electrocardiographic finding of episodic tachycardia with abrupt onset and termination.


postaxial polydactyly of fingers

description: Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).


Fusion of gums

description: A congenital defect with an abnormal joining of the gums of the upper and lower jaw.


name: Abnormality of inferior crus of antihelix

description: An abnormality of the inferior crus of the antihelix is the lower cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa.


Impaired ability to plan

description: Impaired ability to anticipate future events, implement instructions or goals, and develop appropriate steps ahead of time in order to carry out a task or activity.


name: Impaired sensitivity to thyroid stimulating hormone

description: Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH).


Ventricular couplet

description: Two consecutive premature ventricular contractions (PVCs) with no intervening normal beats.


keratosis pilaris atrophicans

description: An uncommon form of keratosis pilaris in which there are scar-like follicular depressions and loss of hair.


Infrequent social initiations

description: Social initiation refers to the ability to begin interactions with other people. This term refers to a reduction in the frequency with which an individual attempts to begin interactions. The term should only be used for individuals who are assessed to have sufficient intellectual and language skills to interact with others.


Blind vagina

description: The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia.


Aplasia of the musculature

description: Absence of the musculature.


name: Abnormality of the proximal fibular epiphysis

description: Any abnormality of the proximal epiphysis of the fibula.


name: Reduced hepatic methionine adenosyltransferase activity

description: Activity of methionine adenosyltransferase in the liver below the lower limit of normal. Note that there are multiple methionine adenosyltransferase isoezymes.


name: Aplasia/Hypoplasia of the middle phalanx of the 2nd finger


name: Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia

description: A focal cognitive seizure with expressive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.


Nasal regurgitation

description: Regurgitation of milk through the nose.


Severe parainfluenza infection

description: An unusually severe infection by a parainfluenza virus.


Elevated urinary aminoisobutyric acid

description: An increased amount of 3-aminoisobutyric acid in the urine.


name: Gonadal tissue inappropriate for external genitalia or chromosomal sex


name: Abnormal peritubular capillary morphology

description: Anomalous structure of the capillaries that are derived from the efferent arteriole, forming a capillary network that surrounds the distal portions of the nephron tubule,


Large basal ganglia

description: Increased size of the basal ganglia.


name: Focal aware cognitive seizure with dyslexia/alexia

description: A focal cognitive seizure with dyslexia / alexia characterized by retained awareness throughout the seizure.


name: Abnormal circulating carboxylic acid concentration

description: Any deviation from the normal concentration of a carboxylic acid in the blood circulation.


Positive blood acetaminophen test

description: Detection of acetaminophen in the blood.


Abnormal circulating IgG level

description: An abnormal deviation from normal levels of IgG immunoglobulin in blood.


name: Elevated circulating N,N-dimethylglycine concentration

description: An increased concentration of N,N-dimethylglycine in the circulation.


Lumbar hypolordosis

description: Flattening of a curve in the spine in the lumbar (lower back) region.


Painful defecation

description: An unpleasant sensation characterized by physical discomfort that occurs when passing stool.


Prominent forehead

description: Forward prominence of the entire forehead, due to protrusion of the frontal bone.


name: Stippling of the epiphysis of the middle phalanx of the 2nd toe

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 2nd toe.


Increased CSF citrulline concentration

description: Abnormally increased levels of citrulline in cerebrospinal fluid.


name: Absent spinous processes of lower thoracic and lumbar vertebrae


name: Abnormality of cartilage of external ear

description: An abnormality of a cartilage of external ear.


Ectopic ovary

description: Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels.


name: isolated anterior cervical hypertrichosis

description: Anterior cervical hypertrichosis is a rare form of localized hypertrichosis characterized by hair growth near the laryngeal prominence during childhood.


name: Increased amyloid beta 42 peptide CSF concentration

description: An elevation above the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF).


Absent fifth fingernail

description: Absence of nail of little finger.


Elevated CSF ammonia concentration

description: The concentration of amonia in the cerebrospinal fluid (CSF) is above the upper limit of normal.