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

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

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.


Hippocampal atrophy

description: Partial or complete wasting (loss) of hippocampus tissue that was once present.


name: Enlarged sagittal diameter of the cervical canal


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.


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.


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.


cor triatriatum dexter

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

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.


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.


High pulse pressure

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


Aplasia/Hypoplasia of the tongue

description: Absence or underdevelopment of the tongue.


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.


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.


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.


facial cleft

description: A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences.


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: 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.


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.


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.


Superficial thrombophlebitis

description: Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein).


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.


Progressive spasticity

description: Spasticity that increases in degree with time.


Increased circulating free T3

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


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: 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.


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.


myxoid liposarcoma

description: A liposarcoma characterized by the presence of round non-lipogenic primitive mesenchymal cells and small signet ring lipoblasts within a myxoid stoma with a branching vascular pattern. This category includes hypercellular lesions with round cell morphology, formerly known as round cell liposarcoma.


syringomyelia

description: Syringomyelia is characterized by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS).


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.


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.


Cerebellar gliosis

description: Focal proliferation of glial cells in the cerebellum.


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


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.


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.


Infantile muscular hypotonia

description: Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.


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.


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.


Impaired renal concentrating ability

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


Unilateral cleft lip

description: A non-midline cleft of the upper lip on one side only.


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: Increased aspartate family amino acid level in urine

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


Abnormal myelination

description: Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.


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.


Single ventricle

description: The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle.


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.


Sleep abnormality

description: An abnormal pattern in the quality, quantity, or characteristics of sleep.


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.


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.


Irregular menstruation

description: Abnormally high variation in the amount of time between periods.


EEG with occipital focal spikes

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


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.


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.


otitis media with effusion

description: Otitis media associated with accumulation of fluid in the middle ear.


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: 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.


Anti-Ma antibody positivity

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


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.


Hemiballismus

description: Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements.


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.


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.


factor X deficiency

description: A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood.


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.


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.


spinal meningioma

description: Spinal meningioma isa rare type of spinal cord cancer. The spinal cord is part of the central nervous system. This tumor often affects middle-aged women. Tumors of the spinal cord can be either primary or arise from other primary tumors (metastatic), and are typically slow growing. The initial signs and symptoms include headacheand recent onset of seizures. Other features are motor deficits, sensory deficits, pain, and sphincter dysfunction. The thoracic spine (middle back) is the most common site, followed by the cervical spine (neck). These tumors are rarely seen in the lumbar region (lower back). T he only proven risk factor in the development of meningioma is exposure to ionizing radiation. Also, patients with neurofibromatosis type 2 are at increased risk of developing meningioma. Surgery is the treatment of choice and complete tumor removal is reached in the vast majority of patients. The prognosis after surgical resection is excellent.


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


Splenic calcification

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


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).


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.


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.


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.


name: Abnormality of the proximal fibular epiphysis

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


nonsyndromic congenital nail disorder 2

description: The natural longitudinal (posterodistal) convex arch is not present or is inverted.


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


Abnormality of the middle ear

description: An abnormality of the middle ear.


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.


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.


Abnormality of skin pigmentation

description: An abnormality of the pigmentation of the skin.


nominal aphasia

description: Impaired ability to retrieve words; in particular, an inability to recall the names of objects and people.


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.


Painful defecation

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


B lymphocytopenia

description: An abnormal decrease from the normal count of B cells.


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: 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.


name: Coronary cameral fistula to right ventricle

description: An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle.


Renal cortical atrophy

description: Atrophy of the cortex of the kidney.


Aplasia of the semicircular canal

description: Absence of the semicircular canal.


Short 2nd metacarpal

description: Short second metacarpal bone because of developmental hypoplasia.


Premature anterior fontanel closure

description: Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.


name: Abnormality of the fourth metatarsal bone


Prominent calcaneus

description: Protruding heel bone, or calcaneus.


Cleft lower lip

description: A gap in the lower lip.


Abnormality of temperature regulation

description: An abnormality of temperature homeostasis.


Abnormal homeostasis

description: An anomaly in the processes involved in the maintenance of an internal equilibrium.


Abnormal olfactory lobe morphology

description: A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell.


Fractured manual digit 1 phalanx

description: A partial or complete breakage of the manual digit 1 phalanx.


Supernumerary metacarpal bones

description: The presence of more than the normal number of metacarpal bones.


name: Hypoplasia of the vestibule of the inner ear

description: Underdevelopment of the vestibule of the inner ear.


Fetal scalp mass

description: An abnormal growth (lump) of tissue that projects from the fetal scalp.


name: Irregularly shaped keratohyaline granules

description: Abnormal shape of keratohyaline granules in dermal keratinocytes.


Hypersarcosinuria

description: An elevated urinary concentration of sarcosine.


Prolonged bleeding after surgery

description: Bleeding that persists longer than the normal time following a surgical procedure.


Anti-mGluR5 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 5 (mGluR5).


Tibial pseudarthrosis

description: Pseudarthrosis, or "false joint" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life.


Keratocystic odontogenic tumor

description: An intraosseous odontogenic neoplasm that usually arises from the mandible. It is characterized by the presence of a single or multiple cysts lined with parakeratinized stratified squamous epithelium. The neoplastic lesions may be solitary or multiple. It has the potential for aggressive behavior, local destruction, and recurrence.


Interlobular vein medial hypertrophy

description: Increased thickness of middle layer of the interlobular veins of the kidney.


Partial agenesis of the corpus callosum

description: A partial failure of the development of the corpus callosum.


Oral erythroplakia

description: A velvety red but not ulcerated lesion of the oral mucosa. The texture may be roughened or normal, and the lesion is neither raised nor depressed.


Widened cerebellar subarachnoid space

description: An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum.


Increased circulating IgG3 level

description: An abnormally increased concentration of the IgG3 subtype in the blood circulation.


name: Moderately reduced left ventricular ejection fraction

description: A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle, defined as a left ventricular ejection fraction of 30-39 percent.


Nephrogenic rest

description: Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney.


name: Decreased proportion of CD3-positive T cells

description: Any abnormality in the proportion of CD3-positive T cells relative to the total number of T cells.


Calcified amorphous tumor of the heart

description: A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue.


Aplasia/Hypoplasia of the fibula

description: Absence or underdevelopment of the fibula.


name: Focal sensory seizure with olfactory features

description: Seizures characterized by olfactory phenomena as its first clinical manifestation.


Aplasia of the premaxilla

description: Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla.


name: Abnormal glomerular mesangium morphology

description: An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries.


description: Neonatal bilateral asymmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body but asymmetrically.


name: Skin fragility with non-scarring blistering


Elevated myocardial iron load

description: Increased amount of iron in myocardial tissue.


Mesangial immunotactoid deposits

description: Extracellular mesangial aggregates composed of non-branching fibrils, focally parralel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination.


Nodular mesangiosclerosis

description: Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei.


Hypoammonemia

description: A decreased concentration of ammonia in the blood.


Abnormal urine protein level

description: Any deviation of the concentration of one or more proteins in the urine.


factor XIII, A subunit, deficiency of

description: Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.


primary tethered cord syndrome

description: Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated.


Gastric perforation

description: A full-thickness injury of the wall of the stomach.


Antiphospholipid antibody positivity

description: The presence of circulating autoantibodies to phospholipids.


name: Congenital malformation of the left heart

description: Defect or defects of the morphogenesis of the left heart identifiable at birth.


name: Elevated circulating alpha-aminoadipic semialdehyde concentration

description: Increased concentration of alpha-aminoadipic semialdehyde in the blood circulation.


name: Aplasia of the proximal phalanges of the toes


name: Decreased CD25 upregulation upon TCR activation

description: Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR).


renal artery atheroma

description: A atherosclerosis that involves the renal artery.


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


Microdontia

description: Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.


Ejection click

description: A high-pitched sound that occurs at the moment of maximal opening of the aortic or pulmonary valves. They are heard just after the first heart sound. The sounds occur in the presence of a dilated aorta or pulmonary artery or in the presence of a bicuspid or flexible stenotic aortic or pulmonary valve. Ejection clicks may also be called ejection sounds.


Hypoplastic spleen

description: Underdevelopment of the spleen.


name: Bullet-shaped distal phalanx of the 2nd toe

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


Finger flexor weakness

description: Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion.


name: Focal cognitive seizure with expressive dysphasia/aphasia

description: A focal cognitive seizure characterized by expressive dysphasia / aphasia as the initial semiological manifestation.


Diffuse pancreatic islet hyperplasia

description: Hyperplasia of the islets of Langerhans with a generalized distribution.


Distal lower limb amyotrophy

description: Muscular atrophy of distal leg muscles.


Rectal arteriovenous malformation

description: An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the rectum.


heart lipoma

description: A rare benign adipose tissue neoplasm of the heart usually originating in the epicardial or pericardial fatty tissue.


Sclerosis of foot bone

description: An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Metaphyseal striations

description: Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis).


Hypoplasia of the vestibular nerve

description: Underdevelopment of the vestibular nerve.


Bronchocentric granulomatosis

description: Granulomatous inflammation that surrounds the bronchi and bronchioles, replacing bronchial walls and mucosa. In bronchocentric granulomatosis, the lumen of the airway contains necrotic debris, and palisaded histiocytes surround the lumen.


Decreased CSF neopterin level

description: Decreased concentration of neopterin in the cerebrospinal fluid (CSF).


name: Abnormal circulating beta-C-terminal telopeptide concentration

description: A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover.


name: Focal impaired awareness motor seizure with dysarthria/anarthria

description: A focal motor seizure with dysarthria / anarthria characterized by impaired awareness at some point during the seizure.


Hip contracture

description: Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.


Posterior helix pit

description: Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated.


name: Anterior predominant subcortical band heterotopia

description: Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible in the frontal and temporal lobes.


name: Decreased circulating GABA concentration

description: A decrease in the level of GABA in the serum.


Testicular adrenal rest tumor

description: Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm.


Increased CSF uracil concentration

description: An increased level of uracil in the cerebrospinal fluid.


name: Impaired thromboxane A2 agonist-induced platelet aggregation

description: Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists.


name: Intimal thickening in the coronary arteries


Curved distal phalanx of the 4th finger

description: Curved appearance of the distal phalanx of the 4th (ring) finger.


Decreased facial expression reciprocity

description: Decreased mirroring or reflection of facial expressions in another person during social interactions, compared to the person's normal behavior.


pituitary stalk interruption syndrome

description: Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.


name: Abnormality of the urinary system physiology


Unilateral renal atrophy

description: A unilateral form of atrophy of the kidney.


Fibular metaphyseal irregularity

description: Irregularity of the normally smooth surface of a metaphysis of a fibula.


name: Elevated circulating long-chain acylcarnitine concentration

description: Concentration of long-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Long-chain acylcarnitines have between thirteen and twenty carbon atoms in the acyl-chain (C13-C20),


Air crescent

description: An air crescent is a collection of air in a crescentic shape that separates the wall of a cavity from an inner mass. The air crescent sign is often considered characteristic of either Aspergillus colonization of preexisting cavities or retraction of infarcted lung in angioinvasive aspergillosis. However, the air crescent sign has also been reported in other conditions, including tuberculosis, Wegener granulomatosis, intracavitary hemorrhage, and lung cancer.


name: Reduced number of intrahepatic bile ducts

description: The presence of reduced numbers of intrahepatic bile duct than normal.


prune belly syndrome

description: Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes.


Reduced imaginative play skills

description: Reduced or lack of pretending in play (does not assign abstract properties to objects, use invisible objects, or use objects in nonliteral ways other than their intended purpose in play).


name: Abnormal circulating histidine concentration

description: An abnormality of a histidine metabolic process.


Narrow uvula

description: Decreased width of the uvula.


Cigarette-paper scars

description: Thin (atrophic) and wide scars.


Patchy sclerosis of 4th toe phalanx

description: Patchy (irregular) increase in bone density of one or more of the phalanges of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.


Short palm

description: Short palm.


Abnormal mandible morphology

description: Any abnormality of the mandible, the bone of the lower jaw.


name: Nodular subcortical heterotopia in peritrigonal regions

description: Solid nodular heterotopia situated in the region of the peritrigonal optic pathway posterior to the deep gray nuclei.


Absent pigmentation of the abdomen

description: Lack of skin pigmentation (coloring) of the abdomen.


myelocystocele

description: Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst.


Preductal coarctation of the aorta

description: Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch.


name: Focal sensory seizure with auditory features

description: A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation.


name: Elevated CSF myelin basic protein concentration

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


Anti-perilipin-1 antibody positivity

description: The presence of autoantibodies in the serum that react against perilipin-1 (PLIN1).


cerebral degeneration

description: A neurodegenerative disease that involves the telencephalon.


Dilated left subclavian artery

description: Abnormally increased caliber of the left subclavian artery.


Abnormal dental root morphology

description: An abnormality of the dental root.


Abnormal blood oxygen level

description: An abnormality of the partial pressure of oxygen in the arterial blood.


Laryngospasm

description: A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe.


Abnormal fetal physiology

description: Any functional anomaly of the fetus.


name: Disproportionate prominence of the femoral medial condyle


Impaired neck-righting reflex

description: Abnormal neck-righting response, which is said to be a physiological response when a child is placed flat on his or her back and the head is turned 90 degrees to the right or the left. With a normal neck-righting response, there follows a reflected torsion of the vertebral column in the same direction as the induced rotation of the neck. That is, the whole body follows the direction in which the head was turned. The response is present from birth to the age of five years.


name: Decreased cervical spine flexion due to contractures of posterior cervical muscles


Aplasia/Hypoplasia involving the nose

description: Underdevelopment or absence of the nose or parts thereof.


description: A granuloma located in the lung that is not associated with necrotic changes.


Advanced eruption of teeth

description: Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age.


brachial plexus neuropathy

description: A brachial plexus disorder characterized by regional paresthesia, pain and muscle weakness, and limited movement in the arm or hand.


name: Disorganization of the anterior cerebellar vermis


Abnormal T cell count

description: A deviation from the normal count of T cells.


Thistle tube shaped pulp

description: A thistle tube shape of the pulp chamber, meaning an enlarged coronal pulp chamber with narrow pulp canals giving a radiographic appearance of the shape of a thistle tube or a flame. It may occur isolated or associated with other dental anomalies and rare diseases such as dentinogenesis imperfecta, which should be assessed and coded separately. The diagnosis thistle tube shape pulp requires clinical and radiographic examinations.


cystic disease of lung

description: The presence of multiple lung cysts.


Increased CSF ribitol concentration

description: The concentration of ribitol in the cerebrospinal fluid is above the upper limit of normal.


External carotid 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 external carotid artery.


urocanic aciduria

description: Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.


Abnormal keratinocyte morphology

description: Any structural anomaly of the keratinocyte. The keratinocyte is the major cell type of the epidermis and is responsible for generating the protective barrier.


Purulent rhinitis

description: Chronic rhinitis accompanied by pus formation.


Benign genitourinary tract neoplasm

description: A non-malignant neoplasm of the genitourinary system.


Anti-ryanodine receptor antibody

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


Abnormal sexual behavior

description: An explicit or perceived action, demonstration, conduct, or language (verbal and written) of a sexual nature that goes against generally accepted norms, rules, and procedures. It is considered unacceptable within the context in which it occurs, or it may be both culturally acceptable and atypical/uncommon.


choroid plexus cyst

description: Solitary or multiple cysts within the fetal choroid plexus that frequently spontaneously resolve antenatally and do not usually have postnatal sequelae.


Focal orofacial automatism seizure

description: A type of focal automatism seizure characterized by orofacial automatisms at onset.


Frontal hirsutism

description: Excessive amount of hair growth on forehead.


Duodenal atrophy

description: Wasting or decrease in size of all or part of the duodenum.


name: Perimembranous ventricular septal defect

description: A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs.


Retracted tympanic membrane

description: A condition in which part of the tympanic membrane is pull backed into the middle ear cavity (also called retraction pocket).


Hypoplasia of fetal nasal bone

description: On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (PMID:16100637).


name: Supraventricular tachycardia with a manifest accessory pathway on the septum


Abnormal circulating renin

description: A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions.


Ankle weakness

description: Reduced strength of the muscles that lift or otherwise move the foot at the ankle.


name: Elevated circulating histamine concentration

description: Increased concentration of histamine in the blood circulation.


Recurrent cutaneous fungal infections

description: Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections.


Abnormal epiphysis morphology

description: An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.


Atrichia

description: The most dramatic and severe form of hair loss characterized by an absence of hair follicles.


Bleeding with minor or no trauma

description: Significant bleeding or hemorrhage without significant precipitating factor.


Abnormal cranial ganglion morphology

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


name: Cone-shaped epiphysis of the middle phalanx of the 2nd finger


name: Cervical vertebral bodies with decreased anteroposterior diameter


name: Elevated circulating dihydrothymine concentration

description: An increased concentration of dihydrothymine in the blood circulation. Dihydrouracil is an intermediate in the catabolism of thymine.


Hemiplegia/hemiparesis

description: Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.


name: Focal cognitive seizure with hallucination

description: A focal cognitive seizure characterized by hallucination as the initial semiological manifestation.


Abnormal spleen morphology

description: Any anomaly of the structure of the spleen.


name: Elevated CSF dihydrobiopterin concentration

description: Concentration of dihydrobiopterin in the cerebrospinal fluid (CSF) above the upper limit of normal.


Cafe-au-lait spot

description: Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.


EEG with 4-5/second background activity

description: EEG background activity at 4-5/second.


Abnormal mediastinum morphology

description: Any structural anomaly of the central compartment of the thoracic cavity.


Fatigable weakness of neck muscles

description: A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.


name: Focal aware cognitive seizure with neglect

description: A focal cognitive seizure with neglect characterized by retained awareness throughout the seizure.


Enamel hypomineralization

description: A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect.


Irregular epiphyses of the 5th finger

description: Irregular radiographic opacity of the epiphyses of the 5th finger.


Hypoalaninemia

description: A decreased amount of alanine in the blood.


name: Streaks of hyperkeratosis along each finger onto the palm


Perifollicular fibrosis

description: Presence of excess fibrous connective tissue surrounding hair follicules.


Anti-reticulin antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against reticulin.


CNS hypermyelination

description: Increased amount of myelin in the central nervous system.


Macrotia

description: Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).


name: Abnormal circulating calcitonin concentration

description: Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation outside of normal limits.


Increased circulating palmitate level

description: An elevation beyond the normal concentration of palmitate (palmitic acid) in the blood circulation.


Asherman syndrome

description: Adhesions or scar tissue that form inside the cavity of the uterus.


Chronic tubulointerstitial nephritis

description: Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.


name: Abnormality of tensor veli palatini muscle

description: An abnormality of the tensor veli palatini muscle


Fetal pericardial effusion

description: An abnormal accumulation of fluid in which the heart is partially or completely surrounded by fluid that is seen in all views and the thickness of the fluid as observed by prenatal ultrasound is above age-dependent norms.


Acute encephalopathy

description: A life-threatening disorder characterized by delirium, seizures, and neuromuscular changes.


Aortic annulus calcification

description: Pathological deposition of calcium salts in the aortic annulus, a fibrous ring-like structure found at the insertion point of the basal attachments of the aortic valve leaflets within the left ventricular outflow tract.


Palmar warts

description: Multiple verrucous lesions on the skin of the palm. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by human papillomavirus (HPV).


ganglioneuroma

description: A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray.


Fractured hindlimb bone

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


Abnormal medulla oblongata morphology

description: An abnormality of the medulla oblongata, the lower half of the brainstem.


Abnormality of cytokine secretion

description: An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells).


Hypoplastic trochlear nerve

description: Underdevelopment of the trochlear nerve, which is the fourth cranial nerve and one of the ocular motor nerves that controls eye movement.


name: Fusiform descending thoracic aortic aneurysm

description: A concentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves the full circumference of the vessel wall


Dermal translucency

description: An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility.


name: Centrilobular ground-glass opacification on pulmonary HRCT

description: A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules.


Epigastric pain

description: Pain that is localized to the region of the upper abdomen immediately below the ribs.


name: Decreased glucose-6-phosphate dehydrogenase level in leukocytes

description: A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes.


name: Precocious puberty with Sertoli cell tumor


Focal perseverative automatism seizure

description: A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset.


Persistent viremia

description: Persistence of virus in the blood circulation longer than would be normal in an immunocompetent host.


name: Focal aware sensory seizure with gustatory features

description: A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes.


name: Multicentric ossification of proximal humeral epiphyses


Cardiomyocyte inclusion bodies

description: Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes.


name: Aplasia of the middle phalanx of the 2nd toe


Abnormal magnesium concentration

description: An abnormality of magnesium ion homeostasis.


Abnormal circulating properdin level

description: A deviation from the normal concentration of properdin in the blood.


Esophageal stricture

description: A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen.


Abnormal endocrine morphology

description: Any anomaly of the structure of an organ ofthe endocrine system.


Abnormal cardiac ventricular function

description: An abnormality of the cardiac ventricular function.


Spinal myoclonus

description: Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia.


name: Reduced epidermal collagen VII protein expression


Levotransposition of the great arteries

description: A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the left of the pulmonary artery.


Complete duplication of hallux phalanx

description: Complete duplication of one or more phalanx of big toe.


name: Abnormality of the epiphysis of the proximal phalanx of the 3rd toe


Postnatal growth retardation

description: Slow or limited growth after birth.


name: Congenital symmetrical palmoplantar keratosis


dentinogenesis imperfecta

description: Dentinogenesis imperfecta (DGI) is a hereditary dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development.


complement deficiency

description: A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited.


Abnormal larynx physiology

description: Any anomaly of the function of the larynx.


name: Abnormality of the epiphysis of the 1st metacarpal

description: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays.


familial multiple nevi flammei

description: A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color.


name: Increased circulating argininosuccinic acid

description: An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation.


Irregular proximal tibial epiphyses

description: Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular.


name: Subendothelial glomerular basement membrane electron dense deposits

description: Electron dense deposits in the glomerular basement membrane (GBM) subendothelial space associated with a prominent GBM reflecting an increase in thickness. This feature can be associated with GBM remodeling along the endothelial aspect.


name: Left superior vena cava draining directly to the left atrium

description: A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt.


name: Abnormal anterior semicircular canal morphology


Focal sexual automatism seizure

description: A type of focal automatism seizure characterized by involuntary sexual behavior at onset.


Mild receptive language delay

description: A mild delay in the acquisition of the ability to understand the speech of others.


Abnormal proportion of naive B cells

description: A deviation in the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to the total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.


PR segment depression

description: A reduction in voltage of the PR segment below baseline.


Striatal T2 hyperintensity

description: Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging.


name: Abnormality of the distal radial epiphysis

description: Any abnormality of the distal epiphysis of the radius.


Displaced tracheal bronchus

description: Accessory bronchus originating from trachea replacing one of the segmental branches of the anatomically normal upper lobe bronchus.


name: Abnormality of the joint spaces of the elbow


Abnormality of the subungual region

description: A lesion located beneath a fingernail or toenail.


name: Proximal/middle symphalangism of 5th toe

description: Bony fusion of the middle and proximal phalanges of the 5th toe.


Temporomandibular joint adhesion

description: Formation of one or more fibrous bands within the temporomandibular joint (TMJ) with resulting limitation of movement of the TMJ. Adhesions may be seen in degenerative processes that involve the TMJ.


Increased total iron binding capacity

description: An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity.


name: Focal impaired awareness sensory seizure with visual features

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


Microcephaly

description: Head circumference below 2 standard deviations below the mean for age and gender.


Episodic pain

description: Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals.


Aortic medial fibrosis

description: An increase in collagen fibers creating areas of substitutive fibrosis or a widening of intralamellar spaces in the media of the aorta. This can be seen in conjunction with a loss to varying degrees of parallel arrangement of the elastic lamellae (or lamellar units).


name: Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal

description: Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal.


Diaphyseal undertubulation

description: Tubulation refers to the size and shape of tubular bones. In children and adolescents, the modeling process regulates normal bone growth. Final shaft (tube) diameter depends on appositional bone growth and the equilibrium between periosteal and endosteal bone resorption and formation. Undertubulation refers to a broad, widened form of the shafts (diaphyses) of long bones.


name: Decreased CSF N-acetylaspartic acid concentration

description: Concentration of N-acetylaspartic acid in the cerebrospinal fluid below the lower limit of normal.


Abnormal renal arteriole morphology

description: Any structural anomaly of the glomerular arterioles. The interlobar arteries of the kidney branch into arcuate arteries, cortical radiate arteries, and then into afferent arterioles. After passing through the renal corpuscle, the capillaries form the efferent arteriole. The afferent and efferent arterioles are difficult to distinguish histologically and are thus both included in this term and its descendents.


Long distal phalanx of finger

description: Increased length of the distal phalanx of finger.


Decreased circulating IgG4 level

description: A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation.


name: Symphalangism affecting the proximal phalanx of the 4th finger

description: Fusion of the proximal phalanx of the 4th finger with another bone.


Presacral teratoma

description: A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV).


name: Fragmentation of the epiphysis of the distal phalanx of the hallux


Senile plaques

description: Senile plaques are extracellular deposits of amyloid in the gray matter of the brain.


Hand tremor

description: An unintentional, oscillating to-and-fro muscle movement affecting the hand.


Erythematous macule

description: A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation.


Focal aware automatism seizure

description: A type of focal automatism seizure during which awareness is fully retained throughout.


name: Spinocerebellar tract disease in lower limbs


Elevated urine L-alloisoleucine level

description: Abnormally increased level of L-alloisoleucine in the urine.


name: Abnormal distal ulnar epiphysis morphology

description: Any abnormality of the distal epiphysis of the ulna.


name: Irregular epiphysis of the distal phalanx of the hallux


name: Abnormality of the distal phalanx of the hallux


Hip adductor weakness

description: Reduced ability to bring the leg toward the midline of the body.


spastic hemiplegia

description: A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body.


Sensory hypersensitivity

description: A decreased tolerance to sensory stimuli that triggers emotional and/or physical distress.


Osteoporotic metatarsal

description: Decrease in mass and density of the metatarsal bones.


name: Increased proportion of effector memory CD8-positive, alpha-beta T cells

description: An increased proportion of effector memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.


Thumb extension contracture

description: Movement in the sagittal plane that increases the angle of the thumb joint (straightens the joint); motion involving posterior bending of the vertebral column or returning to the upright position from a flexed position.


Postprandial hyperlactemia

description: Abnormally increased level of blood lactate following a meal.


name: Elevated circulating 3-hydroxyhexadecanoylcarnitine concentration

description: Concentration of 3-hydroxyhexadecanoylcarnitine in the blood circulation above the upper limit of normal.


name: Renal interstitial immunoglobulin deposits

description: Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining).


Wrist pain

description: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist.


Prolonged QTc interval

description: A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.


Type IV atherosclerotic lesion

description: In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion.


Thyroid lymphangiectasia

description: The presence of lymphangiectasis of the thyroid gland.


Hypoplastic nasopharyngeal adenoids

description: Underdevelopment of the nasopharyngeal adenoids.


name: Partial duplication of the phalanx of hand

description: A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.


name: Elevated circulating porphyrin concentration

description: Concentration of porphyrins or of a specific porphryin above the upper limit of normal. The most commonly tested circulating porphyrins are coproporphyrin, protoporphyrin, and uroporphyrin. Normally protoporphyrin is present in the highest concentration.


name: Symphalangism affecting the proximal phalanx of the 3rd toe


name: peripheral primitive neuroectodermal tumor

description: A small round cell tumor with neural differentiation arising from the soft tissues or bone.


name: Abnormality of extrinsic muscle of tongue


Abnormal tongue morphology

description: Any structural anomaly of the tongue.


name: Reduced circulating acylcarnitine concentration

description: An abnormally reduced concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.


name: Patchy sclerosis of the distal phalanx of the 2nd finger

description: Uneven (irregular) increase in bone density of the distal phalanx of the second finger.


Preauricular hair displacement

description: An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones.


Ecchymosis

description: A purpuric lesion that is larger than 1 cm in diameter.


name: Anti-platelet derived growth factor receptor

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against platelet derived growth factor receptor.


Gastric intraepithelial lymphocytosis

description: The count of lymphocytes located in the epithelial layer of the gastric mucosa is above the upper limit of normal.


name: juvenile type testicular granulosa cell tumor

description: A rare sex cord-stromal tumor that arises from the testis. It is the most frequent congenital testicular neoplasm and is usually diagnosed during the perinatal period. It usually presents as an asymptomatic scrotal or abdominal mass. Morphologically it is characterized by the presence of cysts that are lined by cells resembling granulosa and theca cells.


Carpal bone aplasia

description: Congenital absence of a carpal bone.


Unilateral vestibular schwannoma

description: A unilateral vestibular schwannoma (acoustic neurinoma).


Splenic xanthomatosis

description: Lipid deposits localized within the spleen. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.


Interphalangeal thumb joint contracture

description: Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis.


Reduced sharing of interests

description: An absence or abnormally low frequency of engaging with others to share personal interests or topics. Interest sharing includes offers of information about oneself as a form of social interaction.


name: Abnormal urine guanidinoacetic acid level

description: The concentration of guanidinoacetic acid in the urine, normalized for urine concentration, is outside normal limits.


Lip pit

description: A depression located on a lip.


name: Bracket epiphysis of the proximal phalanx of the 4th finger

description: An abnormality of the proximal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.


2-3 toe syndactyly

description: Syndactyly with fusion of toes two and three.


Chiari malformation type II

description: Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.


Elevated right atrial pressure

description: An abnormal increase in magnitude of the pressure in the right atrium.


tongue neoplasm

description: A neoplasm (disease) that involves the tongue.


name: Transient decreased circulating total IgG

description: A temporary reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.


Heterotopic dermal ossification

description: Formation of abnormal, extraskeletal bony tissue in the dermis (i.e., the layer of skin that lies beneath the epidermis and above the subcutaneous layer).


name: Elevated circulating glycylproline concentration

description: Concentration in the bloodstream of glycylproline above the upper limit of normal. Glycylproline is a dipeptide composed of glycine and proline, and is an end product of collagen metabolism that is further cleaved by prolidase (EC 3.4.13.9).


Opportunistic fungal infection

description: An infection that is caused by a fungus that would generally not be able to cause an infection in a host with a normal immune system. Such fungi take advantage of the opportunity, so to speak, that is provided by a weakened immune system.


Fetal nuchal edema

description: Nuchal edema is considered present in a fetus at gestational week 14 or more if in the midsagittal plane of the neck, there is subcutaneous edema that produces a characteristic tremor on ballotment of the fetal head. This constitutes the severe end of the spectrum of increased nuchal fold thickness, which is defined as soft-tissue thickening of 6 mm or more, seen in the suboccipitobregmatic view of the fetal head. Nuchal edema may be confined to the neck or it may be generalized, as part of hydrops fetalis.


Midline nasal groove

description: An abnormal groove on the midline of the nose that may extend to the nasal tip.


Pili canaliculi

description: A characteristic triangular, kidney- or heat-shaped diameter of hair shafts with typical longitudinal canalicular deformation as observable by scanning electron microscopy.


Cutaneous sclerotic plaque

description: A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter that is characterized by hardening (sclerosis) of the affected skin area (related to collagen thickening).


Monomorphic vesicular eruption

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


name: Elevated circulating 3-hydroxyanthranilic acid concentration

description: The concentration of 3-hydroxyanthranilic acid in the blood circulation is above the upper limit of normal.


urticaria, aquagenic

description: Aquagenic urticaria is a rare condition in which urticaria (hives) develop rapidly after the skin comes in contact with water, regardless of its temperature. It most commonly affects women and symptoms often start around the onset of puberty. Some patients report itching too. It is a form of physical urticaria . The exact underlying cause of aquagenic urticaria is currently unknown. Due to the rarity of the condition, there is very limited data regarding the effectiveness of individual treatments; however, various medications and therapies have been used with variable success.


Hepatic agenesis

description: Absence of the liver owing to a failure of the liver to develop.


Abnormal metabolism

description: An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products.


Elevated RV/TLC ratio

description: An increase in the ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and (3) body plethysmography. An elevated RV/TLC can be interpreted as a sign of air trapping and hyperinflation.


facial nerve disorder

description: A disease involving the facial nerve.


Abnormal tarsal ossification

description: An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.


Hypoplasia of the olfactory bulb

description: Underdevelopment of the olfactory bulb.


Phobia

description: Extreme, irrational, and persistent fears of certain objects, situations, activities, or persons can impede functioning in day-to-day life.


Abnormal thrombosis

description: Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).


name: Increased circulating heparan sulfate level

description: An abnormal increase in the concentration of heparan sulfate in the blood.


Functional abnormality of the inner ear

description: An abnormality of the function of the inner ear.


name: Linear IgG deposits along the epidermal basement membrane zone

description: Presence of IgG antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.


Absent uvula

description: Lack of the uvula.


name: Osteolytic defects of the middle phalanx of the 5th toe


Anti-GlyR antibody

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


Esophageal duplication

description: A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication.


name: Absent right sided atrioventricular connection

description: A defect where there is no connection between the right atrium and right ventricle.


Small cervical vertebral bodies

description: Reduced size of cervical vertebrae.


Atrial septal hypertrophy

description: An abnormal increase in the thickness of the atrial septum.


name: Irregular epiphyses of the middle phalanges of the hand


name: Proximal/middle symphalangism of 3rd finger

description: Fusion of the proximal and middle phalanges of the 3rd finger.


Cutaneous granuloma

description: A granuloma localized to the skin, that is, a chronic inflammatory manifestation with localized aggregation of histiocytes with or without other inflammatory cells (such as plasma cells, eosinophils, or neutrophils), with or without necrosis, with or without vasculitis, with or without calcification, and with or without foreign bodies. Granulomas may be due to infection or chronic inflammatory disease or reactions to foreign material.


Positive lupus band test

description: Deposits of immunoglobulins and complement components along the dermoepidermal junction.


name: Substantia nigra dopaminergic neuron loss

description: Degeneration and loss of neruons in the substantia nigra of the brain.


Inflexible adherence to routines

description: A need to strictly adhere to repetitive routines or patterns of behavior which are created by the environment. One becomes upset or distressed when their routines are disrupted or altered.


Fixated interests

description: Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests).


Narrow incisura width

description: Width of the incisura from the anterior to posterior border less than that observed in the average population.


Basilar 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 basilar artery.


Abnormal ovarian physiology

description: Any anomaly of ovarian function.


neuroblastic tumor

description: A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells.


Acrocyanosis

description: Bluish discoloration of the skin of the hands or feet.


myoclonic-astatic epilepsy

description: Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.


name: Abnormality of frontal process of maxilla

description: An abnormality of a frontal process of the maxilla bone.


name: Ivory epiphysis of the middle phalanx of the 5th finger

description: Sclerosis of the epiphysis of the middle phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


name: Hypothalamic gonadotropin-releasing hormone deficiency


Mild albuminuria

description: The presence of mildly increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio (ACR) less than 30 mg/gm (less than 3.4 mg/mmol).


name: Interlobular vein intima/media multilamellation

description: Myointimal hyperplasia of the inner and middle layer of the interlobular veins of the kidney, arranged in multiple concentric layers.


Severe sensorineural hearing impairment

description: A severe form of sensorineural hearing impairment.


Peripheral arterial calcification

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


name: Impaired epinephrine-induced platelet aggregation

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


Pulmonic valve myxoma

description: A benign tumor of connective tissue containing mucous or gelatinous material (myxoma) localized in the pumonic valve.


name: Abnormal morphology of the proximal phalanx of the 2nd toe


Palpable purpura

description: A type of purpura in which the lesions are raised (and can therefore be appreciated upon palpation).


aplasia cutis congenita

description: Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies.