Abnormal circulating glutamine concentration

Any deviation from the normal concentration of glutamine in the blood circulation.


Abnormal circulating phospholipid concentration

biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:ThingWithTaxon

Any deviation from the normal concentration of a phospholipid in the blood circulation.


Enteric neuronal degeneration

Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons.


Osteolytic defects of the middle phalanx of the 2nd finger

Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger.


Small epiphysis of the distal phalanx of the thumb

Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms.


Elevated circulating dodecenoylcarnitine concentration

An abnormally increased circulation of dodecenoylcarnitine, C12:1, in the blood circulation.


Esophageal food impaction

A piece of food that has gotten stuck in the esophagus and prevents further swallowing.


Thickened glomerular basement membranes with no electron dense deposits

Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy.


Recurrent viral pneumonia

Increased susceptibility to viral pneumonia, as manifested by recurrent episodes of viral pneumonias.


Aplasia/Hypoplasia of the radius

A small/hypoplastic or absent/aplastic radius.


Cauliflower deformity of dermal collagen fibrils

An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electron microscopy.


Fractured phalanx

A partial or complete breakage of the phalanx.


Abnormality of the gallbladder

An abnormality of the gallbladder.


Multiple carpal ossification centers

A delay in the process of formation and maturation of the epiphysis of one or more long bones.


Submucous cleft hard palate

Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.


Absent internal auditory canal

Aplasia of the internal auditory canal.


Anti-laminin 6 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-6.


Increased CSF glycine concentration

Abnormally increased levels of glycine in cerebrospinal fluid.


Symphalangism affecting the proximal phalanx of the 3rd finger

Fusion of the proximal phalanx of the 3rd finger with another bone.


Polysyndactyly of hallux

Combined syndactyly and polydactyly of the great toe.


Congenital shortened small intestine

Substantially shortened length of the small intestine as a result of a developmental defect.


Yellow papule

A papule with yellow color.


Impaired binding of factor VIII to VWF

Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay.


Reduced renal corticomedullary differentiation

Reduced differentiation between renal cortex and medulla on diagnostic imaging.


Abnormal CNS myelination

An abnormality of myelination of nerves in the central nervous system.


Anti-centromere protein B antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-B.


Abnormal left ventricular end-diastolic volume

Any deviation from the normal range of end-diastolic volume of the left ventricle, which is the volume of blood in the left ventricle at the end of diastole (just before systole).


Complete duplication of the middle phalanx of the 3rd finger

Complete duplication of the middle phalanx of middle finger.


Abnormal nervous system morphology

A structural anomaly of the nervous system.


Pseudoepiphysis of the 5th metacarpal

The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.


Abnormal circulating amino acid concentration

The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation.


Abnormal proximal phalanx morphology of the hand


bilateral polymicrogyria

biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:ThingWithTaxon

Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.


Decreased platelet glycoprotein VI

Decreased cell membrane concentration of glycoprotein VI.


Radial deviation of the hand or of fingers of the hand


Excessive hand washing

Hand washing behavior that is excessive for the situational context.


Simple febrile seizure

A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance.


Fused labia minora

Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction.


A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein.


Increased serum bile acid concentration

An increase in the concentration of bile acid in the blood.


Increased LH response to gonadotropin-releasing hormone stimulation test

An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormone stimulation test.


Abnormal morphology of female internal genitalia

An abnormality of the female internal genitalia.


Abnormal carpal morphology

An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate).


Biceps areflexia

Inability to elicit biceps tendon reflex.


Duodenal polyposis

Presence of multiple polyps in the duodenum.


Abnormality of the epiphysis of the middle phalanx of the 3rd toe


Eye poking

Repetitive pressing, poking, and/or rubbing in the eyes.


Abnormal movements of the upper extremities.


Anti-GABA(A)R antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid A receptor, i.e., GABA(A)R.


Focal aware cognitive seizure with deja vu/jamais vu

A focal cognitive seizure with deja vu / jamais vu characterized by retained awareness throughout the seizure.


Temporal lobe dysplasia

A developmental defect of the temporal lobe of the cerebral cortex that is characterized by prominent sulcations and radially directed gyrations.


Inactivating thyroid-stimulating hormone receptor defect

Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect.


Elevated urinary carboxylic acid

An increased amount of carboxylic acid in the urine.


Increased circulating adrenic acid concentration

An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation.


Multifocal neonatal sequential seizure

Multifocal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic multifocal signs.


Short greater sciatic notch

The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch.


Abnormal lumbar spine morphology

Any structural abnormality of the lumbar vertebral column.


Tubular basement membrane disintegration

DIsruption and breaking up of the basement membrane of the tubules of the kidney.


Heliotrope rash

In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower.


Abnormal hair morphology

An abnormality of the hair.


Placental mesenchymal dysplasia

Placental mesenchymal dysplasia is a rare anomaly characterized by placentomegaly, dilatation of chorionic vessels and hydropic stem villi with cistern-like formation. It is often clinically mistaken for a partial hydatidiform mole but there is no trophoblastic proliferation. P57 immunohistochemical expression is discordant, showing a normal positive expression in the cytotrophoblastic cells, and loss of expression in the stromal cells.


Hypokalemic hypochloremic metabolic alkalosis


Fullness of paranasal tissue

Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues.


Arachnodactyly

Abnormally long and slender fingers ("spider fingers").


Fungal hyphae in sputum

Presence of hyphae (long, branching, filamentous structures produced by fungi) in sputum.


Interlobular vein intimal mucoid edema

Accumulation of edematous extracellular matrix in the intima of the interlobular vein of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining.


Abnormal distribution of CD56 bright/dim natural killer cells

An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56, an adhesion molecule mediating homotypic adhesion, is used as a functional marker for NK cells.


Aplasia/Hypoplasia of the proximal phalanx of the 4th finger


Congenital lactic acidosis

A form of lactic acidemia with congenital onset.


Flared radial metaphysis

The presence of a splayed (i.e.,flared) metaphyseal segment of the radius.


Increased circulating creatine kinase MB isoform

An increased concentration of the MB isoform of creatine kinase in the blood circulation.


Posteriorly placed anus

Posterior malposition of the anus.


Atlantoaxial abnormality

An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae.


Increased carrying angle

An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm.


Skin dimple

Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation.


Irregular epiphysis of the middle phalanx of the 3rd finger

Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger.


Small epiphyses of the 4th finger

Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms.


Short 5th finger

Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.


Triceps hyporeflexia

Reduced intensity of the triceps tendon reflex.


Abnormality of the sublingual glands

Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands.


Hypoplastic distal humeri

Underdevelopment of the distal portion of the humerus.


Abnormal circulating thyroxine-binding globulin concentration

Any deviation from the normal concentration of thyroxine-binding globulin (TBG) in the blood circulation.


Irregular epiphyses of the phalanges of the hand

Irregular radiographic opacity of the epiphyses of the phalanges of the fingers.


Abnormal circulating luteinizing hormone concentration

An anomaly of the circulating level of luteinizing hormone (LH).


Abnormal cranial nerve physiology

A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.


supernumerary nostril

Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face.


Abnormality of thyroid physiology

An abnormal functionality of the thyroid gland.


Abnormality of the musculature of the lower limbs


Short 2nd toe

Underdevelopment (hypoplasia) of the second toe.


Abnormal liver physiology

Any functional anomaly of the liver.


lymphatic vessel neoplasm

A benign or malignant neoplasm arising from the lymphatic vessels.


Palmar pruritus

Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand.


Pseudoepiphysis of the distal phalanx of the 3rd finger

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


Abnormality of the epiphysis of the 4th metacarpal

Any abnormality of the epiphysis of the 4th metacarpal bone.


Fibrillary glomerular subepithelial deposits

A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).


Aphthous ulcer

Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.


Cortical diaphyseal thickening of the upper limbs


Anti-hY-RNA complex antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro60.


Absence seizure with eyelid myoclonia

An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure.


Tapered toe

The gradual reduction in girth of the toe from proximal to distal.


Widely spaced primary teeth

Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia.


Cyclic neutropenia in myeloid maturation arrest in bone marrow

Cyclic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.


Williams-Campbell syndrome

A congenital or acquired abnormality of the wall of the bronchi. In congenital cases, there is lack of rigidity in the cartilage of the bronchial wall. In acquired cases, the cartilage of the bronchial wall is degenerated, secondary to tracheostomy or presence of a breathing tube. Symptoms include noisy breathing and wheezing.


anorectal malformation

An abnormality of the anus or rectum.


Nail bed telangiectasia

Telangiectases in the area of the nails.


Hyperkeratotic papule

A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically).


Stippling of the epiphysis of the proximal phalanx of the 2nd finger


Elevated circulating E selectin level

An increased concentration of E selectin in the blood circulation.


Sclerosis of the proximal phalanx of the 2nd finger


Aplasia of the uterus

Aplasia of the uterus.


Hemiatrophy

Undergrowth of the limbs that affects only one side.


Increased circulating thyroxine-binding globulin level

An elevated concentration of thyroxine-binding globulin (TBG) in the blood.


Abnormally low-pitched voice

An abnormal decrease in the pitch of the voice.


Abnormality of tibia morphology

Abnormality of the tibia (shinbone).


Mixed cirrhosis

A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes.


Limb ataxia

A kind of ataxia that affects movements of the extremities.


Renal tubular adenovirus inclusions

Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbersof neutrophils, with interstitial edema and hemorrhage.


Intrauterine fetal demise of one twin after midgestation

Loss of one twin occurring after midgestation (17 weeks gestation).


Irregular epiphysis of the distal phalanx of the thumb

Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb.


cleft soft palate

Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.


Abnormal glomerular mesangial cellularity

Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney.


Ichthyosis follicularis

Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed.


peripheral nervous system neoplasm

A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths.


Abnormal curvature of the vertebral column

The presence of an abnormal curvature of the vertebral column.


Abnormal libido

Any deviation from the normal sexual drive or desire for sexual activity.


Pontine ischemic lacunes

Lacunes are infarcts less than 15 mm in diameter in the cortical white matter or in the corona radiata, internal capsule, centrum semiovale, thalamus, basal ganglia, or pons.


Shortening of all phalanges of the toes

Developmental hypoplasia (shortening) of all phalanges of the foot.


Absent glenoid fossa

Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.


Anti-insulin antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against insulin.


Hypoplasia of the antihelix

Developmental hypoplasia of the antihelix.


Delayed adrenarche

Occurence of adrenarche at a later than normal age. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. It is accompanied by changes in pilosebaceous units, a transient growth spurt and the appearance of axillary and pubic hair in some children, but no sexual development.


Lack of verbal response to verbal cues

A consistent failure to verbally respond to verbal cues which are intended to elicit a verbal response.


alopecia universalis congenita

The most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body.


Renal interstitial fibrosis

The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic.


Inertia

Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example).


Action tremor

A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.


Ascending tubular aorta aneurysm

An abnormal localized widening (dilatation) of the tubular part of the ascending aorta.


sternal cleft

Sternal cleft (SC) is a rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated.


Intellectual disability, progressive

The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.


Contracture of the distal interphalangeal joint of the 5th finger

Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue.


Tibial arterial calcification

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


Pulmonary chondroma

A benign cartilaginous tumors of the lung.


Abnormal distribution of cell junction proteins in buccal mucosal cells

An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43.


Ectopic adrenal gland

Abnormal anatomical location of the adrenal gland.


oophoritis

Inflammation of the ovary, generally caused by an ascending infection of organisms from the endocervix.


Proximal/middle symphalangism of 5th finger

Fusion of the proximal and middle phalanges of the 5th finger.


Pointed chin

A marked tapering of the lower face to the chin.


Anti-thyrotropin receptor antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against thyrotropin receptor antibody.


Cervical hemivertebrae

Absence of one half of the vertebral body in the cervical spine.


Decreased inhibin B level

A reduced concentration of inhibin B in the blood.


Cystic medial necrosis

A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells.


Stippling of the epiphysis of the middle phalanx of the 4th finger

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger.


Anetoderma

Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis.


Increased hepatitis B virus antibody level

An abnormally increased level of immunoglobulin against hepatitis B virus in the blood.


Posterior communicating artery infundibulum

A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery.


Branchial anomaly

Congenital developmental defect arising from the primitive branchial apparatus.


HbC hemoglobin

Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a lysine (6GAG>6AAG). The presence of HbC can be determined by hemoglobin electrophoresis.


Highly elevated creatine kinase

An increased CPK level between 4X and 50X above the upper normal level.


Sclerosis of 4th finger phalanx

An elevation in bone density in one or more phalanges of the fourth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Microvillar PAS-positive secretory granules

The presenceaccumulationof periodic acid-Schiff (PAS) granules in the subapical region of small intenstinal microvilli, appearing as different kinds of vesicular/tubular structures.


Decreased proportion of immature gamma-delta T cells relative to the total number of T cells.


Duplication of the proximal phalanx of the thumb

Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Impaired von Willebrand factor collagen binding activity

Reduced ability of von Willebrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers.


Agenesis of premolar

Agenesis of premolar tooth.


Orofacial action-specific dystonia induced by speech


Giant platelets

Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998).


Focal aware myoclonic seizure

A type of focal myoclonic seizure during which awareness is fully retained throughout.


Intermittent episodes of respiratory insufficiency due to muscle weakness


Chin with horizontal crease

Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest.


Complete duplication of the middle phalanx of the 4th toe

Complete duplication of middle phalanx of fourth toe.


Contracture of the distal interphalangeal joint of the 2nd toe

The distal interphalangeal joint of the 2nd toe cannot be straightened actively or passively.


Abnormality of the epiphysis of the middle phalanx of the 2nd finger


Agenesis of second permanent molar

Agenesis of either mandibular second permanent molar or maxillary second permanent molar.


Stiff interphalangeal joints

Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity.


Generalized lymphadenopathy

A generalized form of lymphadenopathy.


Abnormally folded helix

Any structural anomaly of the border of the helix, which usually forms a rolled rim but is highly variable in shape.


Shortening of all distal phalanges of the fingers

Hypoplasia of all of the distal phalanx of finger.


Patchy sclerosis of the proximal phalanx of the 5th finger

Patchy increase in bone density of the proximal phalanx of the 5th finger.


cervical intraepithelial neoplasia

Squamous or glandular intraepithelial neoplasia that affects the cervical mucosal epithelium. There is no evidence of stromal invasion. According to the degree of cellular atypia and the associated architectural changes, it is classified as low or high grade.


Early cutaneous photosensitivity

Photosensitivity of the skin occurring early in life.


gait apraxia

Impaired ambulation not attributed to sensory impairment or motor weakness. frontal lobe disorders; basal ganglia diseases (e.g., parkinsonian disorders); dementia, multi-infarct; alzheimer disease; and other conditions may be associated with gait apraxia.


Photosensitive myoclonic seizure

Generalised myoclonic seizure provoked by flashing or flickering light.


Elevated circulating deoxyuridine concentration

Concentration of 2-deoxyuridine in the blood circulation is above the normal range.


Heinz bodies

A type of erythrocyte inclusion composed of denatured hemoglobin.


Broad palm

For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.


Absent crus of helix

Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha.


Incomplete cleft hard palate

Cleft hard palate in which the cleft doe not goes through the entire length of the hard palate.


blood vessel neoplasm

A neoplasm arising from arteries or veins.


Homoargininuria

An increased amount of homoarginine in the urine. Homoarginine is a nonproteinogenic alpha amino acid.


Abnormal inferior thyroid vein morphology

An abnormality of an inferior thyroid vein.


Archibald's sign

Shortening of the fourth and fifth metacarpals when the fist is clenched.


Parathyroid hypoplasia

Developmental hypoplasia of the parathyroid gland.


Increased level of L-pyroglutamic acid in urine

An increase in the level of L-pyroglutamic acid in the urine.


Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger


Pulmonary lymphangiectasia

Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid.


Cortical radial artery intraluminal thrombi

Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen within the interior space of cortical radial arteries (interlobular arteries) of the kidney.


Fourth heart sound

The fourth heart sound (S4) is a low-pitched sound that occurs just before the first heart sound (S1) when the atria contract to force blood into the left ventricle, that is, coincident with late diastolic filling of the ventricle due to atrial contraction.


Myocardial late gadolinium enhancement

Areas of high signal intensity in magnetic resonance imaging of the heart appearing 10 to 15 minutes after injection of the intercellular contrast agent gadolinium.


Increased circulating very long-chain fatty acid concentration

Increased concentation of very long-chain fatty acids in the blood circulation. Very long-chain fatty acids are fatty acids (FAs) with a chain-length of 22 or more carbons.


Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina.


Convex contour of sole

The contour of the foot in lateral profile has a convex shape.


spondylosis, cervical

Arthritis of the cervical spine.


Abnormal circulating thyroid hormone concentration

Any deviation from the normal range of the hormones produced by the thyroid gland.


Renal arteriolar intraluminal thrombi

Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arterioles of the kidney.


Widened atrophic scar

An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility.


Abnormal language feature

The presence of any atypical form of expressive language.


hypochromic microcytic anemia

Anemia in which the circulating RBCs are smaller than the usual size of RBCs (microcytic) and have decreased red color (hypochromic).


Enlarged Eustachian valve

An abnormally large Eustachian valve (postnatally). The Eustachian valve is also known as the valve of the inferior vena cava, and is an embryologic remnant of the valve of the inferior vena cava.


acute megakaryoblastic leukemia

Acute megakaryoblastic leukemia (AMKL) is a form of acute myeloid leukemia (AML) that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis.


Rhomboid or triangular shaped 5th finger middle phalanx

Rhomboid or triangular shaped 5th (little) finger middle phalanx.


Thickening of glomerular capillary wall

Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself.


Elevated left ventricular end-diastolic diameter

The LV end-diastolic internal diameter was measured from two-dimensional (2D) images in the parasternal long-axis view, timed with mitral valve closure at the level of the mitral valve chordae.


Flexion contracture of the 2nd finger

Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected.


congenital coronary artery anomaly

Any structural abnormality of the coronary arteries.


Triangular epiphysis of the proximal phalanx of the hallux


Eye of the tiger anomaly of globus pallidus

The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity of the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. The sign is thought to represent iron accumulation in the globus pallidus.


Triceps weakness

A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements.


Penetrating aortic ulcer

A focal defect in the elastic lamina of the aortic wall that leads to localized medial disruption and potential rupture.


anomalous left coronary artery from the pulmonary artery

A congenital coronary vessel anomaly in which the left main coronary artery originates from the pulmonary artery instead of from aorta. The congenital heart defect typically results in coronary artery fistula; left-sided heart failure and mitral valve insufficiency during the first months of life.


Short distal phalanx of the 5th finger

Hypoplastic/small distal phalanx of the fifth finger.


Abnormal renal glomerulus morphology

A structural anomaly of the glomerulus.


Duplication of the distal phalanx of the 3rd finger

Partial or complete duplication of the distal phalanx of middle finger.


Hypoplasia of latissimus dorsi muscle

Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula.


Slender finger

Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.


Fractured middle phalanx of manual digit 3

A partial or complete breakage of the middle phalanx of manual digit 3.


Small epiphyses of the distal phalanges of the hand


Acute disseminated intravascular coagulation

An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed.


Rete ridge flattening

Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance.


Sclerosis of 3rd finger phalanx

An elevation in bone density in one or more phalanges of the third finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Triangular shaped distal phalanx of the 4th finger

Triangular shaped distal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Motor axonal neuropathy

Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg.


Anagen effluvium

An abnormal loss of anagen (growth phase) hairs.


Focal aware cognitive seizure with anomia

A focal cognitive seizure with anomia characterized by retained awareness throughout the seizure.


Transient decreased circulating IgA

A temporary reduction beneath the normal level of total immunoglobulin A (IgA) in the blood circulation.


Cone-shaped epiphysis of the proximal phalanx of the 2nd finger


Abnormal mouth floor morphology

Any abnormality of the mouth floor.


Monoclonal elevation of IgG lambda chain

A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a lambda light chain but not a heavy chain.


Renal glomerular amyloid deposition

Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries.


Abnormal lower motor neuron morphology

Any structural anomaly of the lower motor neuron.


Paradoxical splitting of the second heart sound

Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. With paradoxical splitting, there is a delay in the closure of the aortic valve, so that A2 can follow P2; the individual components can be appreciated at the end of expiration and the interval narrows with inspiration (which is the oposite of the normal pattern).


Chromhidrosis

Secretion of colored sweat.


Mucinous colorectal carcinoma

A subtype of colorectal carcinoma with mucin lakes.


Foramen ovale aneurysm

Foramen ovale aneurysm (FOA) or atrial septal aneurysm is abnormal redundancy of the atrial septum primum, with bulging of the septum by at least half the width of the atrial chamber, or by at least 10 mm beyond the level of the atrial septum. The abnormal protrusion of the interatrial septum results in decreased left atrial volume. On color Doppler there is reduced left ventricular inflow.


Subperiosteal bone resorption

Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone.


Suck reflex

A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner's finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched.


Transphyseal fracture of the distal humerus

A fracture through the distal humeral physis that separates the entire distal humeral epiphysis from the metaphysis.


Inappropriate crying

Uncontrolled episodes of crying, without apparent motivating stimuli.


Angulated antihelix

Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc.


Duplication of the middle phalanx of the 2nd toe

Partial or complete duplication of middle phalanx of second toe.


Renal medullary interstitial inflammation

Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells.


Hypoplastic nasal septum

Underdevelopment of the nasal septum.


Overlapping toe

Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent.


Genital edema

A buildup of fluid that causes swelling in the soft tissues of the genital area.


Asymmetric abdominal aortic aneurysm

An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric).


Morphological abnormality of the papillary muscles

Any structural anomaly of the papillary muscles of the left ventricle.


Rhabdoid tumor

Rhabdoid tumors are rare aggressive malignancies in infants and young children with a poor prognosis. The most common anatomic localizations are the central nervous system, the kidneys, and other soft tissues.


Triceps hypoplasia

Hypoplasia of the triceps muscle.


Decreased proportion of effector memory CD8-positive, alpha-beta T cells

A reduced proportion of CD8-positive, alpha-beta effector memory 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.


Partial duplication of the middle phalanx of the 3rd toe

Partial duplication of middle phalanx of third toe.


Abnormal cerebral vascular morphology

An anomaly of the cerebral blood vessels.


Increased serum prostaglandin E2

An increased concentration of prostaglandin E2 in the blood.


Anti-FGFR3 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against FGFR3.


Abnormality of prothrombin

An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade.


Corticotropin-releasing hormone deficient adrenal insufficiency

Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production.


Abnormal morphology of the limbic system

Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex].


Abnormality of the distal phalanx of the 3rd finger


Fixated interest with abnormal intensity

An abnormally intense interest in a topic or object that is not atypical for the social context of the affected person.


Proximal/middle symphalangism of 3rd toe

Bony fusion of the middle and proximal phalanges of the 3rd toe.


Loss of ability to walk in early childhood


Broad columella

Increased width of the columella.


Abnormal oral frenulum morphology

An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity.


Anti-Zic4 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Zic family member 4 (ZIC4).


arrhinia

Arrhinia is an extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia.


Enlarged epiphysis of the proximal phalanx of the hallux


Delayed ossification of the hand bones

Ossification of hand bones is less advanced than would be expected according to age-adjusted norms.


Right aortic arch with left descending aorta and left ductus arteriosus


Hypoplasia of serratus anterior muscle

Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula.


Malformation of mandibular premolar

An abnormality of the morphology of secondary premolar tooth.


Abnormal S wave

Any anomaly of the S wave, which is the third component of the QRS wave complex. The S wave signifies the final depolarization of the ventricles at the base of the heart.


Deficit applying language skills across context


Abnormal dense tubular system

An anomaly of the intracellular membrane complexes known as the dense tubular system.


Enhanced ristocetin cofactor assay activity

Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma.


non-syndromic amelia

A congenital malformation characterized by the complete absence of all limbs.


Coronary-pulmonary artery fistula

A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery.


Reduced natural killer cell count

Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor.


hypercementosis

A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)


Focal sensory seizure with visual features

A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation.


Neonatal focal clonic seizure

Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is unilateral regularly repeating jerking involving the same muscle groups.


Childhood onset short-limb short stature


Fragmentation of the epiphysis of the distal phalanx of the 4th finger

Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger.


Absent sebaceous glands

Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.


Abnormal Bowman capsule morphology

A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule.


hyperprolinemia

Hyperprolinemia is when there isan excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern.


Decreased circulating IgG1 level

A reduction in immunoglobulin levels of the IgG1 subclass in the blood circulation.


Microscopic nephrocalcinosis

The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma.


Maternal hyperphenylalaninemia

A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy.


congenital pulmonary veins anomaly

Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium.


Aplasia of the inferior half of the cerebellar vermis


Decreased circulating renin level

An decreased level of renin in the blood.


Focal impaired awareness cognitive seizure with deja vu/jamais vu

A focal cognitive seizure with deja vu / jamais vu characterized by impairment of awareness at some point during the seizure.


Abnormality of upper limb epiphysis morphology


Cardiac valve calcification

Abnormal calcification of a cardiac valve.


Pseudoepiphysis of the distal phalanx of the 2nd toe


Metaphyseal rarefaction

Reduction in density of metaphyseal bony tissue.


Overfolding of the superior helices

A condition in which the superior portion of the helix is folded over to a greater degree than normal.


Reduced platelet dense granules

Decreased number of platelet dense granules, a type of platelet organelle.


Abnormality of blood volume homeostasis

An abnormality in the amount of volume occupied by intravascular blood.


dens evaginatus

Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown).


Flared distal fibular metaphysis

The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula.


Stippling of the epiphyses of the 5th finger

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger.


Multiple joint dislocation

Dislocation of many joints.


Arcuate artery endoarterial foam cell hypercellularity

A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen.


Acute hepatic steatosis

An acute form of hepatic steatosis.


Macroorchidism

The presence of abnormally large testes.


Amelia involving the upper limbs

Amelia of one or both upper limbs.


Anti-H3-H4 antibody positivity

The presence of autoantibodies in the blood circulation that react against the H3-H4 histone dimer.


Abnormal incisura morphology

An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus.


Redundant neck skin

Excess skin around the neck, often lying in horizontal folds.


corpus callosum lipoma

A rare benign adipose tissue neoplasm of the corpus callosum.


Abnormality of the parathyroid morphology

A structural abnormality of the parathyroid gland.


Premature epimetaphyseal fusion in tibia

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


Reduced sex -hormone binding protein level

A decreased concentration of sex-hormone binding protein in the circulation.


Knee contracture

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


Focal impaired awareness cognitive seizure with forced thinking

A focal cognitive seizure with forced thinking characterized by impairment of awareness at some point during the seizure.


Pulmonary Langerhans cell histiocytosis

Accumulation of monoclonal CD1a-positive Langerhans cells in the bronchioles and alveolar interstitium that can cause damage to the lungs.


Hypoplasia of the radius

Underdevelopment of the radius.


Redundant skin

Loose and sagging skin often associated with loss of skin elasticity.


Enlarged platelet dense granules

Increased size of platelet dense granules.


Hypertriglyceridemia

An abnormal increase in the level of triglycerides in the blood.


Pleural rub

An abnormal breath sound that is nonmusical, short and explosive. It is grating, rubbing, creaky, or leathery in character and present in both phases of respiration. Typically the expiratory component mirrors the inspiratory component. It occurs due to inflamed pleural surface rubbing each other during breathing. Clinically, it is important to differentiate it from crackles


Limb-girdle muscle weakness

Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis.


Glomerular hyaline pseudothrombus

Intracapillary amorphous, eosinophilic material consisting of immune deposits.


Osteolytic defects of the distal phalanx of the 2nd finger

Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger.


Cone-shaped epiphysis of the proximal phalanx of the 3rd toe


Multilamellation of medullary peritubular capillary basement membranes

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


Decreased level of thrombomodulin

Thrombomodulin is a cofactor in the thrombin induced activation of Protein C. In the case of deficiency there will be less Protein C and tendency to clot


Intellectual disability, moderate

Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.


Abnormal manganese concentration

A deviation from the normal range of manganese in the blood circulation.


primary ciliary dyskinesia

A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).


Palate mass

A lump in the region of the palate. A mass is any lump in the body that can be caused by the abnormal growth of cells, a cyst, hormonal changes or an immune reaction. Typically a mass is an initial finding that will lead to additional workup.


Decreased lymphocyte proliferation in response to mitogen

A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA).


Abnormal circulating hormone concentration

An abnormal concentration of a hormone in the blood.


Glomerular subepithelial deposits

Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).


Intermittent hyperventilation

Episodic hyperventilation.


Intratubular calcium oxalate casts

Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney.


Hypermelanotic macule

A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.


White streaks/specks on enamel.

Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks.


pilocytic astrocytoma

Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but ocurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported.


Ulnar metaphyseal irregularity

Irregularity of the normally smooth surface of the metaphysis of the ulna.


capillary malformation

A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules).


Abnormal arachnoid mater morphology

An abnormality of the Arachnoid mater.


Pulmonary arterial hypertension with positive acute response to NO challenge

A form of pulmonary arterial hypertension in which there is a reduction of mean pulmonary artery pressure (mPAP) at leasy 10 mmHg to reach an absolute value of mPAP not more than 40 mmHg with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm.


Aortic smooth muscle cell disorganization

Nonparallel arrangement/disarray of smooth muscle cells of the aortic media creating focal/multifocal disarray or sometimes nodular aggregates of smooth muscle cells.


Abnormal superficial reflex

An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons.


Bullet-shaped middle phalanges of the hand

Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Abnormal dendritic cell count

A deviation from the normal count of dendritic cells in the peripheral blood circulation. Dendritic cells are of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative).


Carpal synostosis

Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).


Abnormal metatarsal ossification

Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years.


Angel-shaped phalanx

A phalangeal malformation that is termed angel-shaped phalanx (ASP), because of its resemblance to the angels used for decoration of Christmas trees. The various components of an angel-shaped phalanx are: diaphyseal cuff (wings), surrounding a meta-diaphyseal core (body), which may appear empty or structured with a cone-shaped epiphysis (skirt) and pseudoepiphysis (head).


Abnormal circle of Willis morphology

An anomaly of the circle of Willis, also known as the cerebral arterial circle.


Cutaneous syndactyly of toes

A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria.


Increased anti-insect IgE antibody level

Increased level of IgE antibody against antigens from insects such as moths, mosquitos, or cockroaches.


Abnormality of the clitoris

An abnormality of the clitoris.


Increased circulating ceruloplasmin concentration

Elevated concentration of ceruloplasmin in the blood circulation.


Adamantinoma

A primary low-grade, malignant bone tumor that is predominantly located in the mid-portion of the tibia. Histologically, classic adamantinoma is a biphasic tumor characterized by epithelial and osteofibrous components that may be intermingled with each other in various proportions and differentiating patterns.


Distal tibial bowing

A bending or abnormal curvature of the distal portion of the tibia.


Osteochondroma

A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone.


Reduced FEV1/FVC ratio

Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity).


Sclerosis of the proximal phalanx of the hallux


Premature epimetaphyseal fusion in hand

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


EEG with parietal sharp slow waves

EEG with sharp slow waves in the parietal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.


Increased circulating inosine concentration

An increased concentration of inosine in the blood circulation.


Ivory epiphyses of the distal phalanges of the hand

Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


Abnormal TSH response to thyrotrophin-releasing hormone stimulation test

Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesised by, stored within and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal reponse in the TRH stimulation test.


Abnormal glomerular mesangial matrix morphology

Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix.


Global proximal tubulopathy

A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis.


Persistence of hemoglobin F

Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent.


Parkinsonism with favorable response to dopaminergic medication

Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication.


Short distal phalanx of the 4th finger

Hypoplastic/small distal phalanx of the fourth finger.


Molarization of premolar

Increased size and molar morphology of premolar tooth.


Short finger

Abnormally short finger associated with developmental hypoplasia.


autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius

Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum.


Aplasia/Hypoplasia of toe

Absence or hypoplasia of toes.


Bilateral asymmetric neonatal sequential seizure

Asymmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting asymmetrically with a variety of clinical and electrographic signs, often changing lateralization within or between seizures.


Triangular shaped middle phalanges of the hand


Aplasia/hypoplasia involving bones of the hand

Absence (due to failure to form) or underdevelopment of the bones of the hand.


Midline direction of ventricular apex

Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal.


Short 2nd finger

Hypoplasia of the second finger, also known as the index finger.


Dense calcifications in the cerebellar dentate nucleus


Focal cognitive seizure with receptive dysphasia/aphasia

A focal cognitive seizure characterized by receptive dysphasia / aphasia as the initial semiological manifestation.


Mesomelia

Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.


Aglossia

Absence of the tongue owing to a developmental abnormality.


Beta-alaninuria

An increased level of beta-alanine in the urine.


phosphaturic mesenchymal tumor

An extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues or bones. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor.


Glomerular basement membrane lucencies

Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits.


Cardiac diverticulum

A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular.


Abnormality of renal excretion

An altered ability of the kidneys to void urine and/or specific substances.


Fractured proximal phalanx of digit 5

A partial or complete breakage of the proximal phalanx of digit 5.


Reduced consciousness/confusion

Abnormally diminished level of attention, responsiveness, or wakefulness.


Portal vein hypoplasia

A developmental defect characterized by underdevelopment of hte portal vein.


Increased HbA2 hemoglobin

An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia.


Decreased pineal volume

An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland.


Triangular shaped phalanges of the 4th toe


Duplication of phalanx of toe

Partial/complete duplication of one or more phalanx of toe.


Abnormality of the midnasal cavity

Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae.


Pubertal developmental failure in females


Compression-fractured cervical vertebra

A fracture of the cervical vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.


Cortical radial artery endotheliosis

Enlargement of endothelial cells of the cortical radial arteries (also known as the interlobular arteries) of the kidney because of cytoplasmic swelling.


Semantic dementia

A progressive loss of the ability to remember the meaning of words, faces and objects.


Congenital stapes ankylosis

A form of stapes ankylosis with congenital onset.


Focal impaired awareness sensory seizure with somatosensory features

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


Aplasia/Hypoplasia of the colon

Congenital absence or underdevelopment of the colon.


Absent specific antibody response

Absence of specific immunoglobulins directed against a specific antigen or microorganism.


Anti-Lrp4 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against low-density lipoprotein receptor (Lrp4).


Symphalangism affecting the distal phalanx of the 3rd toe


Cutaneous telangiectasia

Dilated blood vessels on the skin.


Neonatal bilateral asymmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs asymmetrically at both sides of the body.


Complete duplication of the proximal phalanx of the 5th finger

Complete duplication of the fifth proximal phalanx of hand.


Ivory epiphysis of the 1st metacarpal

The epiphysis of the 1st metacarpal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs.


Symphalangism affecting the proximal phalanx of the 2nd finger

Fusion of the proximal phalanx of the 2nd finger with another bone.


Palmoplantar erythema

Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin.


Absent nail of hallux

Absent nail of big toe.


Testicular ischemia

Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the tissue. Clinical manifestations may include pain and swelling of the affected testis.


Anti-GAD65 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamic acid decarboxylase 65 (GAD65).


Abnormal CSF carnosine concentration

Any deviation from the normal concentration of carnosine in the cerebrospinal fluid.


Antidromic atrioventricular reentrant tachycardia

A type of atrioventricular reentrant tachycardia (AVRT) where the accessory pathway is used for anterograde conduction and the atrioventricular node for retrograde conduction.


Focal impaired awareness automatism seizure

A focal seizure with automatism in which awareness is partially or fully impaired at some point during the seizure.


anotia

A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development.


Abnormal greater sciatic notch morphology

An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.


Elevated prostate-specific antigen level

An increased concentration of prostate specific antigen (PSA) in the circulation.


Aplasia/Hypoplasia of the external ear

The presence of aplasia or developmental hypoplasia of all or part of the external ear.


Increased circulating chylomicron concentration

Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.


Increased serum estradiol

An elevation above normal limits of the concentration of estradiol in the circulation.


Abnormal helper T cell proportion

Abnormal proportion of helper T cells relative to the total number of T cells.


Bilateral choanal atresia

Bilateral absence (atresia) of the posterior nasal aperture (choana).


Mandibular pain

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


Distal lower limb muscle weakness

Reduced strength of the distal musculature of the legs.


Cleft earlobe

Discontinuity in the convexity of the inferior margin of the lobe.


Patchy sclerosis of the middle phalanx of the 2nd finger

Uneven (irregular) increase in bone density of the middle phalanx of the second finger.


Extreme axis deviation

A kind of abnormal ventricular axis in the EKG whereby the QRS axis fall sbetween -90 degrees and 180 degrees. In this case, the ventricular vector is directed upward and to the right.


Supraventricular tachycardia with a concealed accessory connection

Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed becasue it is not seen on the ECG during sinus rhythm.


Ectopia of the spleen

An abnormal (non-anatomic) location of the spleen.


Neonatal epileptic spasm

A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: grimacing, head nodding, or subtle eye movements. May occur in clusters.


Irregular epiphysis of the distal phalanx of the 3rd finger

Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger.


congenital mesoblastic nephroma

A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis.


Duplication of phalanx of the 3rd toe

Partial or complete duplication of phalanx of third toe.


Increased peripheral blast count

An increased count in the peripheral blood of cells that are precursors to mature circulating blood cells such as neutrophiles, monocytes, lymphocutes, and erythrocytes. Blasts are not usually found in significant numbers in the peripheral blood circulation, but can be observed in hematopoietic neoplasms such as leukemia, severe infections, and as a result of certain medications.


Antineutrophil antibody positivity

The presence of autoantibodies in the serum that react against neutrophils.


Short third metatarsal

Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone.


Abnormal fifth cranial nerve morphology

Any structural abnormality of the fifth cranial nerve.


Mild hearing impairment

The presence of a mild form of hearing impairment.


Peripheral cyanosis

Bluish discoloration of the distal extremities (hands, fingertips, toes), and can sometimes involve circumoral and periorbital areas. Mucous membranes are generally not involved.


Mosaic pulmonary attenuation pattern

Mosaic attenuation refers to heterogeneous areas of differing pulmonary attenuation on CT imaging.


Cleft helix

A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length.


Lower lip pit

Depression located on the vermilion of the lower lip, usually paramedian.


Accumulation of melanosomes in melanocytes


Prenatal maternal abnormality

Medical history of maternal diseases, exposures, or other relevant findings during the pregnancy of which the index person was the product.


Decreased level of histidine-rich glycoprotein

Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation


Abnormal sacrum morphology

An abnormality of the sacral bone.


fetal lower urinary tract obstruction

An obstruction in the ureter leading to bladder outlet obstruction. Special criteria are used for lower urinary tract obstruction (LUTO) in the fetus. Prenatal LUTO has classically been suspected on the basis of three ultrasonographic findings: megacystis, dilated posterior urethra (known as the keyhole sign) and hydronephrosis.


Unilateral facial palsy

One-sided weakness of the muscles of facial expression and eye closure.


Cerebral hamartoma

The presence of a hamartoma of the cerebrum.


Symphalangism affecting the phalanges of the hallux


Abnormal cardiac magnetic resonance imaging finding

Abnormal finding by magnetic resonance imaging (MRI), which uses non-ionizing radiation via a strong magnetic field and radio frequency energy to generate three dimensional images. This term comprises findings that are specific to MRI. Findings such as ventricular spetum defect that can be detected by multiple modalities should be coded separately.


Abnormality of renin-angiotensin system

An abnormality of the renin-angiotensin system.


Patchy sclerosis of proximal phalanx of finger

Uneven increase in bone density of the proximal phalanges of the hand.


Focal impaired awareness autonomic seizure with pallor/flushing

A focal autonomic seizure with pallor / flushing characterized by impaired awareness at some point during the seizure.


Cone-shaped epiphysis of the distal phalanx of the 5th finger

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


Aplasia cutis congenita over parietal area

A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area.


Arm dystonia

A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms.


Aplasia cutis congenita on trunk or limbs

A developmental defect resulting in the congenital absence of skin on the trunk or the limbs.


Abnormal palatine bone morphology

An abnormality of the palatine bone.


Colon perforation

A hole (perforation) in the wall of the colon.


Reduced haptoglobin level

An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state.


Weight loss

Reduction of total body weight.


Abnormal number of erythroid precursors

A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.


Anti-histone antibody positivity

The presence of autoantibodies in the blood circulation that react against histone antigens.


Abnormality of the pharynx

An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.


Absent tragus

Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix.


Anticardiolipin IgG antibody positivity

The presence of circulating IgG autoantibodies to cardiolipin.


hyperpituitarism

Disease of the glandular, anterior portion of the pituitary (pituitary gland, anterior) resulting in hypersecretion of adenohypophyseal hormones such as growth hormone; prolactin; thyrotropin; luteinizing hormone; follicle stimulating hormone ; and adrenocorticotropic hormone. Hyperpituitarism usually is caused by a functional adenoma.


Flattened femoral head

An abnormally flattened femoral head.


Multinucleated erythroblast

Erythroblasts with multiple nuclei. Erythroblasts are nucleated precrusor cells of erythrocytes that are localized to the bone marrow. Normally, erythroblasts have a single nucleus. The abnormal finding of erythrocytes with two or more nuclei may be related to defects in cytokinesis.


Anti-SUMO-activating enzyme antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE.


Abnormality of pain sensation

Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain.


Elevated circulating CA19-9 concentration

Concentration of CA19-9 above the upper limit of normal.


Abnormal circulating antimullerian hormone concentration

Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases.


Ivory epiphyses of the middle phalanges of the hand

Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


Truncal ataxia

Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.


Partial duplication of thumb phalanx

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


Prominent superficial veins

A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal.


Anti-HLA-B IgG1 antibody positivity

The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B).


Calcification of the aorta

Calcification, that is, pathological deposition of calcium salts in the aorta.


Anti-integrin antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against an integrin. Integrins are a family of cell adhesion molecules with 24 known integrin heterodimers. Integrins transduce mechanical and biochemical signals from fibrotic extracellular matrix into the cell, activate latent TGFbeta, and subsequently modulate fibroblast adhesion, migration, and growth.


Elevated circulating palmitoleylcarnitine concentration

An elevated level of propionylcarnitine in the circulation. Propionylcarnitine is present in high abundance in the urine of patients with Methylmalonyl-CoA mutase (MUT) deficiency.


Renal arteriole intima/media arteriolosclerosis

Thickening of the intima of renal arterioles with fibrosis and/or duplication of the elastic lamina.


Focal cognitive seizure with anomia

A focal cognitive seizure characterized by anomia as the initial semiological manifestation.


Fractured distal phalanx of manual digit 3

A partial or complete breakage of the distal phalanx of manual digit 3.


brachydactyly type A3

Hypoplastic/small middle phalanx of the fifth finger.


Abnormal inner ear epithelium morphology

Any structural anomaly of an inner ear epithelium.


Abnormal pulse pressure

An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure.


Abnormality of vitamin A metabolism

Concentration of vitamin A in the blood circulation outside limits of normal.


Persistent preoccupation with parts of objects

A type of abnormal interest characterized by a persistent and intense focus on parts of a toy/object. For example, affected individuals may spin the wheels on a toy car rather than drive the toy car.


Absent circulating B cells

Complete lack of mature B cells, that is, of B cells that have left the bone marrow.


Abnormal social imitation

A reduced ability to imitate a task or the movements of others.


Short proximal phalanx of the 2nd finger

Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger.


Abnormal bronchoalveolar lavage fluid morphology

Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions.


Small thumb epiphysis

Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms.


Pectoralis hypoplasia

Underdevelopment of the pectoral muscle.


Abnormal liver parenchyma morphology

A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells.


Venous stenosis

Narrowing of a vein due to intimal hyperplasia and fibrosis.


Patchy sclerosis of the middle phalanx of the 2nd toe


Pseudoepiphysis of the distal phalanx of the 4th toe


Increased adipose tissue around the neck

An increased amount of subcutaneous fat tissue around the neck.


Addictive behavior

When an activity, substance, object, or behavior becomes a major focus of a person's life excluding other activities, or has begun to harm the individual or others physically, mentally, or socially can be considered addictive behavior. A person can become addicted or compulsively engaged with anything.


Pontine T2 hypointensity

A darker than expected T2 signal on magnetic resonance imaging (MRI) of the pons.


Absent distal phalanx of the 2nd toe

Absence of distal phalanx of the second toe as a result of developmental aplasia.


Abnormal circulating cysteine concentration

An abnormality of a cysteine metabolic process.


Scrotal hypospadias

Hypospadias with location of the urethral meatus in the scrotum.


Bilineage myelodysplasia

Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic.


Abnormal vestibular function

An abnormality of the functioning of the vestibular apparatus.


ectodermal dysplasia syndrome

The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.


Localized hypoplasia of dental enamel

A localized form of developmental hypoplasia of the dental enamel.


Microform unilateral cleft lip

Notch, groove, or scar of the upper lip without noticeable rupture of the lip. Microforms are sometimes associated with disruption of the continuity of the orbicularis oris muscle.


Ivory epiphyses of the metacarpals

Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Functional abnormality of the middle ear

An abnormality of the function of the middle ear.


Anti-Hu antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Hu.


Hemoglobin Barts

Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues.


Lumbosacral hirsutism

Abnormally increased hair growth in the lumbosacral region.


Progressive hearing impairment

A progressive form of hearing impairment.


Focal aware motor seizure with paresis/paralysis

A focal motor seizure with paresis / paralysis characterized by retained awareness throughout the seizure.


Abnormal axial skeleton morphology

An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum.


Common carotid artery dissection

A separation (dissection) of the layers of the common carotid artery wall.


Poor head control

Difficulty to maintain correct position of the head while standing or sitting.


Abnormal third ventricle morphology

An abnormality of the third ventricle.


Aplasia/Hypoplasia of the middle phalanx of the 5th toe


erythromelalgia

A rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia, hypercholesterolemia, mushroom or mercury poisoning, and some autoimmune disorders.


Perifollicular hyperkeratosis

Increased amount of keratin (visible as white scales) surrounding hair follicles.


EEG with generalized low amplitude activity

An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


Narrow palate

Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).


EEG with generalized sharp slow waves

EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.


Anti-H3 antibody positivity

The presence of autoantibodies in the blood circulation that react against histone H3.


Elevated ciculating 5-hydroxymethyluracil concentration

An increased concentration of 5-hydroxymethyluracil in the blood circulation.


Abnormal great auricular nerve morphology

Any structural anomaly of a great auricular nerve.


Hyperketonemia

An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood.


Abnormal serum bile acid concentration

A deviation from the normal concentration of serum bile acid concentration.


Low-molecular-weight proteinuria

Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).


Genital blistering

The presence of one or more bullae on the skin of the genital region, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.


Infantile encephalopathy

Encephalopathy with onset in the infantile period.


Abnormal cardiomyocyte connexin43 staining

Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases.


Limb dystonia

A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.


Coarctation in the transverse aortic arch

Narrowing or constriction of the aorta localized to the region of the transverse aortic arch.


Axial dystonia

A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles.


Abnormal carbon dioxide level in cord blood

Abnormal amount of carbon dioxide in umbilical cord blood


Increased circulating precipitin level

The presence of high titers of antigen-precipitating IgG in the serum.


Triangular shaped proximal phalanges of the toes


Elevated circulating tetracosanoic acid concentration

Elevated concentration of tetracosanoic acid (a C24 straight-chain saturated fatty acid) in the blood circulation.


Gonadal neoplasm

A tumor (abnormal growth of tissue) of a gonad.


bronchogenic cyst

Bronchogenic cysts (BCs) are congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum.


Aplastic pubic bone

A developmental defect characterized by lack of development of the pubis bone.


Sclerosis of the proximal phalanx of the 3rd toe

An elevation in bone density in the proximal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Abnormality of the epiphysis of the middle phalanx of the 5th toe


Tessier number 7 facial cleft

The temporozygomatic Number 7 cleft is found in both Treacher Collins syndrome and hemifacial microsomia. Soft tissue manifestations include macrostomia, malformations of the external and middle ear, temporalis muscle, variable involvement of the seventh cranial nerve (in hemifacial microsomia), and abnormalities of the preauricular hair in Treacher Collins syndrome. The skeletal cleft is through the pterygomaxillary junction, and vertical maxillary hypoplasia is present. In addition, abnormality of the mandibular ramus, coronoid, and condyle and absence of the zygomatic arch are typically present. A soft tissue furrow extends from the macrostomia laterally and superiorly across the cheek toward the preauricular hairline. The lower eyelids are intact. The anatomy of the external ear is normal, and there are no preauricular tags. Bony clefting is through the pterygomaxillary junction with hypoplasia of the alveolar process in the molar region, thereby producing a posterior open bite. The maxilla is hypoplastic, although the maxillary sinuses are symmetrically pneumatized. The hypoplastic zygomatic body arches upward, but then it takes a downward course and is severely malformed and displaced. The zygoma is continuous posteriorly with an apparently normal zygomatic process of the temporal bone. The mandibular condyle and coronoid process are hypoplastic and asymmetric. There is no antegonial notching of the mandible. Marked cranial base asymmetry, with tilting and asymmetric positioning of the temporomandibular articulations, is present. The anatomy of the sphenoid is abnormal, especially on the right where there is no recognizable medial or lateral pterygoid plate.


familial hemolytic anemia

A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies.


Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Selective tooth agenesis

Agenesis specifically affecting one of the classes incisor, premolar, or molar.


Global mesangial sclerosis

A generalized global (over 80%) increase of mesangial matrix that is present throughout the mesangial stalk (with or without associated mesangial hypercellularity).


dysgerminoma

A malignant germ cell tumor characterized by the presence of a monotonous primitive germ cell population. The neoplastic cells form aggregates and have an abundant pale cytoplasm and uniform nuclei. The aggregates of the germ cells are separated by fibrous septa which contain inflammatory cells, mostly T-lymphocytes. It arises primarily in the ovaries, but can occur both primarily and secondarily at other sites, particularly the central nervous system. It responds to chemotherapy and radiotherapy. Its prognosis is related to the tumor stage.


Fetal fifth finger clinodactyly

Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (PMID:16100637).


Lymphoid cholangitis

Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement.


Oxygen desaturation on exertion

Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa.


Sclerosis of the middle phalanx of the 3rd toe

An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Focal active colitis

Focal active colitis (FAC) is characterized by focal crypt damage caused by neutrophils. FAC is characterized by an inflammatory infiltrate consisting of intraepithelial neutrophils and/or neutrophils invading the lumen of the criptae, with no other microscopic alteration of the colonic mucosa and, in particular, without the presence of signs of chronic inflammation.


Hyperoxemia in cord blood

An abnormally high level of blood oxygen in the cord blood.


renal agenesis

Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively), accompanied by absent ureter(s).


Abnormality of the cervical spine

Any abnormality of the cervical vertebral column.


Ventricular flutter

A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance.


Multicentric ossification of proximal femoral epiphyses


Complete duplication of the first metacarpal bone.


Aplasia/Hypoplasia of the capital femoral epiphysis

Absence or underdevelopment of the proximal epiphysis of the femur.


selective IgA deficiency disease

A dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class A (IgA). It is the most common primary antibody deficiency. It may be inherited or the reversible sequela of infection or certain drugs. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Though affected persons may be asymptomatic, low levels of IgA will reduce the immune system's ability to combat infection where IgA is normally secreted, at mucosal surfaces. Selective IgA deficiency is seen in greater proportion among patients with autoimmune disorders.