larynx atresia

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


Small intestinal bleeding

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

Bleeding from the small intestine.


Increased theta frequency activity in EEG

Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution.


Abnormal HDL2b concentration

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


Spontaneous chorioamniotic separation

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


Recurrent bacterial upper respiratory tract infections

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


Decreased post-bronchodilator forced expiratory flow 25-75%

A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed after the administration of a bronchodilating medication.


Boerhaave syndrome

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

A syndrome characterized by spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part.


Patchy sclerosis of the proximal phalanx of the 4th toe

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


Abnormal communication

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


Curved middle phalanx of the 2nd toe

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


brachydactyly

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


Complete duplication of the proximal phalanx of the 3rd toe

Complete duplication of proximal phalanx of third toe.


Aplasia of the lower vagina

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


Small anterior fontanelle

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


Irregular ossification of humeral metaphyses


Increased hepatic echogenicity

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


Anomalous origin of left subclavian artery

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


Discordant atrioventricular connection

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


Partial duplication of the distal phalanx of the 2nd finger

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


Calcium phosphate crystalluria

The presence of calcium phosphate crystals in the urine.


Fractured distal phalanx of pedal digit 3

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


Recurrent pancreatitis

A recurrent form of pancreatitis.


Abnormal patella morphology

Abnormality of the patella (knee cap).


Aplasia of the middle phalanx of the 5th toe


Rhabdoid tumor of the kidney

A highly aggressive, extremely rare neoplasm of the kidney that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers, and pathologic diagnosis requires familiarity with these microscopic features plus awareness that adult onset is possible. It can be associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm.


Avulsion fractured tibia

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


Abnormal speech volume

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


Reduced amygdala volume

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


gonadal dysgenesis

A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics.


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


Decreased pulmonary fissure count

Lack of one or more of the normal pulmonary fissures.


Exaggerated rugosity of the labia majora

Marked rugae formation of the skin of the labia majora.


Anorectal abscess

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


Reduced C-peptide level

A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion.


Increased circulating thyroglobulin level

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


Temporal cortical atrophy

Atrophy of the temporal cortex.


Phenylalaninuria

Increased level of phenylalanine in urine.


Recurrent meningococcal disease

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


Bullet-shaped middle phalanx of the 5th finger

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


Aplasia of the 3rd metacarpal

Absence of the third long bone of the hand.


Abnormal sperm mid-piece morphology

A structural abnormality of the sperm mid-piece.


Curved thumb phalanx

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


Decreased circulating parathyroid hormone level

An abnormally decreased concentration of parathyroid hormone.


Vertebral artery calcification

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


Enlarged tectum

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


Pulmonary valve defects

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


Cardiac teratoma

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


Triplomyelia

Triplication of the spinal cord - extremely rare.


Penile thrush

Overgrowth of candida albicans in the penis.


Impaired collagen-induced platelet aggregation

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


Follicular hyperkeratosis

A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.


Abnormal adiponectin level

A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism.


Fractured sternoclavicular joint

A partial or complete breakage of the sternoclavicular joint.


Fibrillar glomerular subepithelial deposits

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


Aplasia cutis congenita of scalp

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


Focal aware emotional seizure with crying

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


Everted antitragus

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


Ovarian torsion

Ovarian torsion is a twisting of the ligaments that support the adnexa, cutting off the blood flow to the ovary.


Left aortic arch with isolated subclavian artery

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


Aplasia/Hypoplasia of the distal phalanx of the thumb


Abnormal circulating C-reactive protein concentration

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


Abnormal frontal bone morphology

An abnormality of the frontal bone.


Shoulder muscle hypoplasia

Underdevelopment of muscles of the shoulder.


Temporal lobe calcification

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


Decreased circulating dihydrotestosterone concentration

A reduced concentration of dihydrotestosterone in the blood circulation.


congestive splenomegaly

Sclerosis of the intrahepatic portal veins of the liver and generally accompanied by non-cirrhotic portal hypertension, features of which may include splenomegaly and varices.


Fractured forearm bones

Bone fracture in the radius, ulna, or wrist.


Multinucleation of renal tubular epithelial cells

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


Sertoli cell-only phenotype

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


Stiff knee

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


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

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


Sclerosis of the middle phalanx of the 5th toe


Decreased acrosin in sperm head

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


Increased serum zinc

An increased consentration of zinc in the blood.


Aplasia of the sweat glands

Absence of the sweat glands.


Ileal atresia

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


Torsion of appendix of testis

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


Microphallus

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


Arterial occlusion

Blockage of blood flow through an artery.


Distal humeral metaphyseal irregularity

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


Increased level of methylsuccinic acid in urine

An increase in the level of methylsuccinic acid in the urine.


Thinking-induced seizure

Seizures induced by thinking and decision-making.


Absence of acoustic reflex

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


Glomerular capillary wire loop deposits

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


Tragal bridge of crus of helix

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


Increased urinary glycerol

An increased concentration of glycerol in the urine.


Neutrophilia in absence of infection

An increased number of neutrophils circulating in the blood in the absence of an infection. Factors contributing to neutrophilia could include inflammation or congenital disorders.


Increased overbite

Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm.


Vaginal bleeding during sex

Bleeding during sex.


brachydactyly type D

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


Abnormality of the urinary system

An abnormality of the urinary system.


Absent humeral epiphyseal ossification

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


Non-necrotizing granuloma

A granuloma which is not associated with necrotic changes.


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

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


Fetal trigonocephaly

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


Bracket epiphysis of the 1st metacarpal

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


Prominent median palatal raphe

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


primary cutaneous amyloidosis

Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis.


coccidioidomycosis

A fungal infection caused by Coccidioides immitis. Affected individuals usually have mild flu-like symptoms. However, pneumonia and systemic involvement with the formation of abscesses may develop as complications of the disease.


lobar holoprosencephaly

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


Aplastic colon

Congenital absence of the colon


Abnormal cerebrospinal fluid morphology

An abnormality of the cerebrospinal fluid (CSF).


Triangular epiphysis of the middle phalanx of the 3rd finger

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


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


Aortic valve leaflet calcification

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


Mid-frequency hearing loss

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


Abnormal gesture use

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


Frontal venous angioma

A venous angioma of the frontal lobe of the brain.


Aplasia/Hypoplasia of the phalanges of the 4th finger


Hypoglycemic encephalopathy

Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage.


Ivory epiphysis of the proximal phalanx of the 2nd toe


Abnormality of the pineal gland

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


Abnormality of the shoulder girdle musculature


Hyperglutaminemia

An increased concentration of glutamine in the blood.


Lack of gonadotropin-releasing hormone pulsatility

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


Postlingual sensorineural hearing impairment

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


Telangiectasia of the oral mucosa

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


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


Abnormal biliary tract morphology

A structural abnormality of the biliary tree.


Multilamellation of cortical peritubular capillary basement membranes

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


Autoimmune antibody positivity

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


Dilatation of Inferior mesenteric artery

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


Symphalangism affecting the proximal phalanx of the 5th toe


Decorticate rigidity

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


Hemiatrophy of upper limb

Unilateral atrophy (reduction in size) of an arm.


Open neural tube defect

A type of neural tube defect that is not covered by skin.


Abnormal T-wave

An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles.


Atrial situs inversus

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


Focal aware orofacial automatism seizure

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


Increased urinary multiantennary sialylated oligosaccharide

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


laryngostenosis

Narrowing of the laryngeal airway.


Typical absence status epilepticus

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


Abnormal placental membrane morphology

Structural anomaly of the fetal membranes (also known as the amniochorionic or placental membranes), which comprise a vital intrauterine compartment, where they perform mechanical, immune, and endocrine functions to promote growth of the fetus and protection from environmental adversity. Amniochorionic membranes anatomically consist of a single layer of cuboidal amnion epithelial cells, chorionic trophoblasts, and scattered fibroblasts connected by a layer of type IV collagen-rich extracellular matrix.


Elevated residual volume

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


Type IV truncus arteriosus

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


Abnormal circulating valine concentration

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


Enlarged epiphysis of the 1st metatarsal


Dependency on parenteral nutrition

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


Elevated brain creatine level by MRS

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


Arcuate vein intimal mucoid edema

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


Pulmonary vasculitis

Cellular inflammation, vessel destruction, and tissue necrosis of the blood vessels of the lung.


Epispadias

Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias.


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


Abnormal tarsal bone mineral density

This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone.


Hypernatriuria

An increased concentration of sodium(1+) in the urine.


Increased Burr cell count

Burr cells, also known as echinocytes, have a speculated border over the entire cell surface. Burr cells are commonly found in both end-stage renal disease and liver disease. Small numbers of Burr cells are commonly found in healthy individuals.


Nut food product allergy

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


Nevus flammeus nuchae

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


Chronic cough

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


Dysplasia of the femoral head

The presence of developmental dysplasia of the femoral head.


Very preterm birth

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


Dysfunction of lateral corticospinal tracts


Phenotypic abnormality

A phenotypic abnormality.


Absent axillary hair

Absence of axillary hair.


Abnormal renal pelvis morphology

An abnormality of the renal pelvis.


Aplasia/Hypoplasia of fingers

Small/hypoplastic or absent/aplastic fingers.


Dislocated radial head

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


Abnormal odontoid tissue morphology

An abnormality of an odontoid tissue.


Feeding difficulties

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


Absent malleus

Aplasia of the malleus.


Patchy sclerosis of the middle phalanx of the 3rd finger

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


Duplication of the distal phalanx of the 5th toe

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


Anomalous pulmonary venous return

A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood.


Abnormal CSF branched chain amino acid concentration

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


Chordee

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


Anti-transcription intermediary factor-1gamma antibody positivity

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


Fractured sternum

A partial or complete breakage of the sternum.


Abnormality of circulating beta-2-microglobulin level

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


Abnormal atrioventricular connection

An abnormality of the circulatory connection between atria and ventricles.


Lactescent serum

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


Partial duplication of the distal phalanx of the 4th finger

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


Triceps aplasia

Absence of the triceps muscle.


Absence of large von Willebrand factor multimers

Absence of large von Willebrand Factor multimers on gel electrophoresis.


Cupped ear

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


Decreased level of D-mannose in urine

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


hereditary antithrombin deficiency

A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins).


Salt craving

An excessive desire to eat salt (sodium chloride) or salty foods.


Proximal fibular overgrowth

Overgrowth of the proximal part of the fibula.


Abnormal peripheral nervous system physiology

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


Light-chain paraproteinemia

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


Pneumomediastinum

The presence of free air in the mediastinum.


Expanded metacarpals with widened medullary cavities


Generalized convulsive status epilepticus

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


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


Widely patent coronal suture

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


Aplasia/Hypoplasia involving the musculature of the upper arm

Absence or underdevelopment of the muscles of the upper arm.


AV nodal tachycardia

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


Impaired clot retraction

Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration.


Irregular epiphysis of the proximal phalanx of the thumb

Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


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

A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


Anti-CV2/CRMP5 antibody positivity

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


Absent pigmentation of the ventral chest

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


Congenital megaureter

A developmental disturbance with extreme ureteral dilatation.


Abnormal circulating amylase concentration

A deviation from the normal concentration of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.


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


Pulmonary necrosis

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


Duplication of the distal phalanx of the 2nd toe

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


hypoaldosteronism disease

Abnormally low levels of aldosterone in the blood.


Elevated terminal:vellus ratio

An increased proportion of terminal hairs compared to vellus hairs.


Retrocollis

A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.


Abnormality of reproductive system physiology

An abnormal functionality of the genital system.


Low-grade fever

Mild fever that does not exceed 38.5 degrees centigrade.


Anti-GFAP antibody

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


Anti-Ro52/TRIM21 antibody positivity

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


Shortening of all middle phalanges of the fingers

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


Abnormal peripheral nervous system ganglion morphology

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


Nodular pattern on pulmonary HRCT

A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter.


Decreased level of tissue plasminogen activator

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


Hypoplasia of the small intestine

Underdevelopment of the small intestine.


cutaneous leiomyosarcoma

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


Diffuse alveolar damage

Diffuse alveolar damage (DAD) describes a comon histologic injury pattern of the lung. The early stages are characterized by epithelial cell necrosis and sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli. This results in impaired gas exchange. In later stages, type II cells and myofibroblasts proliferate within the interstitium and airspaces. The corresponding clinical entity is acute respiratory distress syndrome (ARDS). DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe viral infections, acute interstial pneumonitis and crack cocaine inhalation.


Impaired distal vibration sensation

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


Aortic elastic fiber thinning

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


Cone-shaped metacarpal epiphyses

A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones.


Aplasia/Hypoplasia of the clavicles

Absence or underdevelopment of the clavicles (collar bones).


EEG with spike-wave complexes (<2.5 Hz)

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


fetal and neonatal alloimmune thrombocytopenia

Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a blood disorder that affects pregnant women and their babies. NAIT was first reported in the literature in 1953 and is estimated to occur in as many as 1 in 1200 live births. NAIT results in the destruction of platelets in the fetus or infant due to a mismatch between the mother's platelets and those of the baby. Certain molecules (antigens) on the surface of the baby's platelets are recognized as foreign by the mother's immune system. The mother's immune system then creates antibodies that attack and destroy the baby's platelets. Though NAIT can occur whenever the mother's blood mixes with that of the baby, it is usually triggered when the mother is exposed to the baby's blood during delivery. Many cases of NAIT are mild. Signs and symptoms may include a low platelet count (thrombocytopenia) and signs of bleeding into the skin such as petechiae and purpura. In the most severe cases, NAIT can cause bleeding episodes that may result in death or long-term disability. Bleeding episodes can occur either during pregnancy or after birth. Management of the infant with neonatal alloimmune thrombocytopenia may include platelet transfusions, ultrasounds, and intravenous immunoglobulin (IVIG). Treatment for pregnant mothers at risk for NAIT may include IVIG and steroids.


rosette-forming glioneuronal tumor of fourth ventricule

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


Tongue fasciculations

Fasciculations or fibrillation affecting the tongue muscle.


Posterolateral diaphragmatic hernia

A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity.


Motor deterioration

Loss of previously present motor (i.e., movement) abilities.


Aplasia/Hypoplasia of the middle phalanges of the toes


Abnormal circulating arginine concentration

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


Decreased serum estradiol

A reduction below normal concentration of estradiol in the circulation.


Excessive eye contact

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


Duplication of the proximal phalanx of the 4th toe

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


Focal emotional seizure

Seizures presenting with an emotion or the appearance of having an emotion as an early prominent feature, such as fear, spontaneous joy or euphoria, laughing (gelastic), or crying, (dacrystic). These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer.


Disseminated infection with live vaccine virus

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


Broad 4th toe

A broad appearance of the fourth toe.


Low-frequency sensorineural hearing impairment

A form of sensorineural hearing impairment that affects primarily the lower frequencies.


Decreased immunoglobulin level in body fluid

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


Craniofacial osteosclerosis

Abnormally increased density of craniofacial bone tissue.


Abnormality of mesenteric lymph nodes

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


Hawkinsinuria

Increased level of hawkinsin in the urine. Hawkinsin is a cysteine derivative that is cysteine in which the thiol group is substituted by a [2-(carboxymethyl)-2,5-dihydroxycyclohex-3-en-1-yl]sulfanediyl group.


Inferior pubic ramus hypoplasia

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


Broad humeral epiphyseal plate

Increased width of the humeral epiphyseal growth plate.


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

A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


Abnormal morphology of right ventricular trabeculae

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


Impairment of the reflex of the tensor tympani muscle


Bile duct polyp

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


Focal T2 hypointense thalamic lesion

A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus.


Increased female libido

Elevated sexual desire in female


spinal muscular atrophy

Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person.


Prominent subcalcaneal fat pad

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


Abnormality of the vertebral spinous processes


Elevated circulating parathyroid hormone level

An abnormal increased concentration of parathyroid hormone.


Decreased specific pneumococcal antibody level

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


Chondritis of pinna

Inflammation of the cartilage of the external ear.


Iliac crest serration

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


Abnormal renal corpuscle morphology

Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule.


Anti-GQ1b IgM antibody positivity

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


Anti-acetylcholine receptor antibody positivity

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


Discrete 2 to 5-mm hyper- and hypopigmented macules


Polymorphic vesicular eruption

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


female reproductive system neoplasm

A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma.


Short uvula

Decreased length of the uvula.


Episodic flaccid weakness

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


Hippocampal atrophy

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


Abnormal circulating T4 concentration

A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).


Schistocytosis

The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood.


Triangular epiphysis of the 1st metatarsal


EEG with changes in voltage

EEG with abnormal amplitude.


Deja vu aura

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


Abnormal hand morphology

Any structural anomaly of the hand.


Short forearm

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


Decreased proportion of memory T cells

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


Hyperactive bowel sounds

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


Impairment in personality functioning

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


Triangular mouth

The presence of a triangular form of the mouth.


Elevated urine keto acid level

Increased amount of a keta acid in the urine.


cor triatriatum dexter

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


Severe generalized osteoporosis

Severe degree of osteoporosis.


Aplasia of the olfactory bulb

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


Cardiac neurofibroma

A neurofibroma (benign peripheral nerve sheath tumor) localized in the heart.


Abnormal pyramidal sign

Functional neurological abnormalities related to dysfunction of the pyramidal tract.


pituitary dwarfism

Proportionately decreased bodily growth due to failure of the pituitary gland to produce an adequate supply of growth hormone.


Arcuate vein intima/media crystal accumulation

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


Abnormal quality of facial expression

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


Lacticaciduria

An increased concentration of lactic acid in the urine.


High pulse pressure

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


Decreased circulating prealbumin concentration

A reduction from the normal concentration of prealbumin in the blood circulation.


adenomyosis

The growth of endometrial tissue inside the muscular wall of the uterine corpus. Clinical manifestations include pain, dysmenorrhea, and menorrhagia.


Intermittent painful muscle spasms

History of repeated intermittent involuntary muscle contractions that were painful.


Increased neutrophil mitochondria

An increased number of mitochondria detected in neutrophils.


Aplasia/Hypoplasia of the tongue

Absence or underdevelopment of the tongue.


Premature epimetaphyseal fusion in foot

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


Abnormal pulmonary artery physiology

An abnormality of the function of the pulmonary artery.


Bracket epiphysis of the distal phalanx of the 3rd toe


Moderate conductive hearing impairment

The presence of a moderate form of conductive hearing impairment.


Decreased CSF arginine concentration

Abnormally decreased levels of arginine in cerebrospinal fluid.


Focal impaired awareness emotional seizure with anger

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


Increased circulating farnesol concentration

An elevated level of farnesol in the blood circulation.


Poorly ossified cervical vertebrae

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


Greater auricular nerve thickening

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


Coronary cameral fistula

An abnormal communication between coronary artery and a cardiac chamber.


Abnormal cardiac index

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


Agyria

A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm.


Myofiber disarray

A nonparallel arrangement of cardiac myocytes.


Aplasia/Hypoplasia of the tibia

Absence or underdevelopment of the tibia.


Gallbladder enlargement

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


facial cleft

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


Abnormal proportion of immature B cells

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


Abnormal intervertebral disk morphology

Any structural abnormality of the intervertebral disk.


Neonatal seizure with unilateral automatism

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


Fusion of the left and right thalami

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


Abnormality of the somatic nervous system

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


Abnormal ear morphology

Any structural anomaly of the ear.


Increased HDL3a concentration

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


Hand muscle weakness

Reduced strength of the musculature of the hand.


Abnormal dura mater morphology

An abnormality of the Dura mater.


Periapical tooth abscess

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


Gerbode ventricular septal defect

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


Hypoplastic helices

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


Stippling of the epiphyses of the 3rd finger

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


Abnormal circulating free fatty acid concentration

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


Usual-type tubular atrophy

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


Agenesis of the small intestine

Failure to develop of the small intestine.


Progressive spasticity

Spasticity that increases in degree with time.


Increased circulating free T3

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


Fused thoracic vertebrae

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


Bilateral cryptorchidism

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


Hand clenching

An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. In prenatal sonography of the fetal clenched hand, the index finger overlaps a clenched fist formed by the other digits. The proximal interphalangeal articulation of the index finger is flexed and ulnarly deviated, and the thumb is adducted.


Decreased CSF glycine concentration

Abnormally decreased levels of glycine in cerebrospinal fluid.


Glomerular synechial adhesion

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


Abnormal CSF serine family amino acid concentration

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


Abnormal circulating methionine concentration

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


Aplasia/hypoplasia of the uterus

Absence or developmental hypoplasia of the uterus.


Abnormality of peripheral somatosensory evoked potentials


Focal aware cognitive seizure with dyscalculia/acalculia

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


Abnormality of lingual tonsil

An abnormality of a lingual tonsil.


Focal impaired awareness atonic seizure

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


Grade III preterm intraventricular hemorrhage

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


Enteric intraneuronal nuclear inclusion bodies

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


Fused nails

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


46,XY sex reversal 11

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


Abnormal periodontium morphology

Any abnormality of the periodontium.


Dermal immune complex deposition

Accumulation of antigen-bound antibody in the skin.


Microspherocytosis

The presence of erythrocytes that are sphere-shaped and reduced in size.


myxoid liposarcoma

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


syringomyelia

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


Decreased plasma free carnitine

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


Visceral epithelial hyaline droplets

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


Aplasia/Hypoplasia of the vagina

Aplasia or developmental hypoplasia of the vagina.


Decreased hepatic echogenicity

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


Methylphenidate addiction

Addiction to methylphenidate.


Cerebellar gliosis

Focal proliferation of glial cells in the cerebellum.


Aplasia of lymphatic vessels

Aplasia (absence) of the lymphatic vessels.


Abnormal CSF biopterin concentration

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


Unifocal splenic abscess

Single (solitary) abscess in the spleen.


Fragmentation of the epiphyses of the 4th toe


Abnormal putamen morphology

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


Mottled pigmentation

Patchy and irregular skin pigmentation.


Asynergia

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


Osteopathia striata

A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance.


Paramedian lip pit

Depression located paramedially on the vermilion of a lip.


Elevated amniotic fluid alpha-fetoprotein

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


Abnormal pubic bone morphology

An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (pubis, ilium, ischium) of the hip bone.


Infantile muscular hypotonia

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


Central apnea

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


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

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


Susceptibility to chickenpox

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


Triangular shaped distal phalanx of the 3rd finger

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


Focal impaired awareness sensory seizure

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


Abdominal wall muscle weakness

Decreased strength of the abdominal musculature.


Abnormal pulmonary alveolar system morphology

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


congenital multicore myopathy with external ophthalmoplegia

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


Chronic villitis

Villitis of unknown etiology (synonymous with villitis of unknown aetiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis.


Abnormality of urine calcium concentration

An abnormality of calcium concentration in the urine.


Impaired renal concentrating ability

A defect in the ability to concentrate the urine.


Unilateral cleft lip

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


Skin-colored papule

A papule with the same color as the surrounding skin.


Echogenic fetal bowel

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


Erratic myoclonus

A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous.


Increased aspartate family amino acid level in urine

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


Abnormal myelination

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


Paramesangial deposits

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


Abnormal CSF glutamine concentration

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


Coronary sinus atrial septal defect

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


Aplasia of posterior communicating artery

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


Single ventricle

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


Small epiphysis of the 1st metacarpal

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


Mild neurosensory hearing impairment

The presence of a mild form of sensorineural hearing impairment.


Bicarbonate-wasting renal tubular acidosis


Recurrent trauma-related distressing dreams

Recurrent distressing dreams in which the content and/or affect of the dream are related to the traumatic event or events.


P pulmonale

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


Short fourth metatarsal

Short fourth metatarsal bone.


Recurrent intrapulmonary hemorrhage

A recurrent hemorrhage occurring within the lung.


Solid pulmonary nodule

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


Reduced circulating transferrin concentration

An abnormally decreased concentration of transferrin in the blood circulation.


Renal tubular herpes simplex virus inclusions

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


Risk taking

Engagement in dangerous, risky, and potentially self-damaging activities, unnecessarily and without regard to consequences; lack of concern for one's limitations and denial of the reality or personal danger.


Short distal phalanx of the 2nd finger

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


Aplasia/Hypoplasia of the premaxilla

Absence or underdevelopment of the premaxilla.


Focal impaired awareness seizure with dissociation at onset

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


Irregular epiphyses of the 4th finger

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


Abnormal T cell subset distribution

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


EEG with occipital focal spikes

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


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

Decresaed proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.


Femoral bowing present at birth, straightening with time

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


Mulberry molar

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


Abnormal CSF glycine concentration

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


Increased arm span

Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle).


Abnormal circulating aspartate family amino acid concentration

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


Fractured distal phalanx

A partial or complete breakage of the distal phalanx.


Increased urinary hexanoic acid level

An increased amount of hexanoic acid in the urine.


Aplasia/Hypoplasia of the corpus callosum

Absence or underdevelopment of the corpus callosum.


Bullet-shaped proximal phalanx of the 5th toe

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


Abnormal lip morphology

An abnormality of the lip.


Hypocitraturia

A lower than normal concentration of citrate(3-) in the urine.


Unilateral absence of pectoralis major muscle

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


Anti-Ma antibody positivity

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


Neutral hyperaminoaciduria

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


2-4 toe cutaneous syndactyly

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


Hemiballismus

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


Anti-U1 ribonucleoprotein antibody positivity

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


Ignores peers

Lack of interest of an individual in peers of comparable age and social groups. For example, a child who is only interested in social interactions with adults rather than children their age.


Left atrial isomerism

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


Increased neutrophil nuclear projections

Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs.


Aplasia/Hypoplasia of metatarsal bones

Absence or underdevelopment of the metatarsal bones.


Pancreatic fistula

An abnormal communication between the pancreas and another organ or cavity.


Conical maxillary incisor

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


Abnormal labia minora morphology

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


Rhomboid or triangular shaped 5th finger distal phalanx

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


High palate

Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).


Impaired renal tubular reabsorption of glucose

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


Dural tail sign

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


Pseudoepiphysis of the proximal phalanx of the 2nd finger

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


factor X deficiency

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


Hyperextensible skin

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


Upper extremity joint dislocation

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


Malar rash

An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose.


Adactyly

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


Eosinophilic infiltration of the esophagus

Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus.


Radiculomegaly

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


Vasculitis by histology

Vasculitis categorized according to type of histological abnormality.


Leung cusp

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


Narrow philtrum

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


spinal meningioma

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


Decreased adenosylcobalamin

Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12.


Abnormal long bone morphology

An abnormality of size or shape of the long bones.


Small epiphysis of the middle phalanx of the 3rd toe


EEG with temporal epileptiform discharges

Focal epileptiform EEG discharges recorded in the temporal region.


Absent epiphysis of the middle phalanx of the 4th toe


Elevated urine suberylglycine level

Level of suberylglycine in urine above upper limit of normal.


Abnormality of the proximal phalanx of the 3rd finger


Atypical perifissural nodule

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


congenital muscular dystrophy

A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.


Irregular epiphysis of the distal phalanx of the 4th toe


Praxis-induced seizure

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


Increased cardiac index

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


Narrow foramen obturatorium

Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis.


Paroxysmal tachycardia

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


postaxial polydactyly of fingers

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


Fusion of gums

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


Abnormality of inferior crus of antihelix

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


Impaired ability to plan

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


Impaired sensitivity to thyroid stimulating hormone

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


Ventricular couplet

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


keratosis pilaris atrophicans

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


Reduced attempt to get or direct another's attention

An abnormality in one's tendency to initiate social interactions.


Blind vagina

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


Abnormality of the proximal fibular epiphysis

Any abnormality of the proximal epiphysis of the fibula.


nonsyndromic congenital nail disorder 2

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


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


Abnormality of the middle ear

An abnormality of the middle ear.


Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia

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


Nasal regurgitation

Regurgitation of milk through the nose.


Elevated urinary aminoisobutyric acid

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


Gonadal tissue inappropriate for external genitalia or chromosomal sex


Abnormal peritubular capillary morphology

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


Large basal ganglia

Increased size of the basal ganglia.


Focal aware cognitive seizure with dyslexia/alexia

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


Abnormal circulating carboxylic acid concentration

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


nominal aphasia

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


Abnormal circulating IgG level

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


Reduced platelet alpha granules

A reduced number of platelet alpha granules.


Elevated circulating N,N-dimethylglycine concentration

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


B lymphocytopenia

An abnormal decrease from the normal count of B cells.


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

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


Increased CSF citrulline concentration

Abnormally increased levels of citrulline in cerebrospinal fluid.


Absent spinous processes of lower thoracic and lumbar vertebrae


Abnormality of cartilage of external ear

An abnormality of a cartilage of external ear.


Ectopic ovary

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


isolated anterior cervical hypertrichosis

Anterior cervical hypertrichosis is a rare form of localised hypertrichosis characterised by hair growth near the laryngeal prominence during childhood.


Increased amyloid beta 42 peptide CSF concentration

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


Absent fifth fingernail

Absence of nail of little finger.


Coronary cameral fistula to right ventricle

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


Renal cortical atrophy

Atrophy of the cortex of the kidney.


Aplasia of the semicircular canal

Absence of the semicircular canal.


Short 2nd metacarpal

Short second metacarpal bone because of developmental hypoplasia.


Premature anterior fontanel closure

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


Abnormality of the fourth metatarsal bone


Prominent calcaneus

Protruding heel bone, or calcaneus.


Cleft lower lip

A gap in the lower lip.


Abnormality of temperature regulation

An abnormality of temperature homeostasis.


Abnormal homeostasis

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


Abnormality of olfactory lobe morphology

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


Fractured manual digit 1 phalanx

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


Hyperprostaglandinuria

An increased concentration of prostaglandin in the urine.


Helicobacter pylori infection

A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach.


Supernumerary metacarpal bones

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


Hypoplasia of the vestibule of the inner ear

Underdevelopment of the vestibule of the inner ear.


Fetal scalp mass

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


Hypersarcosinuria

An elevated urinary concentration of sarcosine.


Prolonged bleeding after surgery

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


Anti-mGluR5 antibody

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


Vertical clivus

An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum).


Tibial pseudarthrosis

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


Keratocystic odontogenic tumor

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


Abnormal urine osmolality

A deviation from the normal range of concentration of particles in urine.


Interlobular vein medial hypertrophy

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


Partial agenesis of the corpus callosum

A partial failure of the development of the corpus callosum.


Oral erythroplakia

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


Widened cerebellar subarachnoid space

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


Increased circulating IgG3 level

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


Moderately reduced left ventricular ejection fraction

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


Nephrogenic rest

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


Decreased proportion of CD3-positive T cells

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


Calcified amorphous tumor of the heart

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


Aplasia/Hypoplasia of the fibula

Absence or underdevelopment of the fibula.


Focal sensory seizure with olfactory features

Seizures characterized by olfactory phenomena as its first clinical manifestation.


Aplasia of the premaxilla

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


Abnormal glomerular mesangium morphology

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


Abnormal urine sebacic acid concentration

Abnormal concentration of sebacic acid in the urine.


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


Skin fragility with non-scarring blistering


Mesangial immunotactoid deposits

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


Nodular mesangiosclerosis

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


Hypoammonemia

A decreased concentration of ammonia in the blood.


Abnormal urine protein level

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


factor XIII, A subunit, deficiency of

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


primary tethered cord syndrome

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


Antiphospholipid antibody positivity

The presence of circulating autoantibodies to phospholipids.


Congenital malformation of the left heart

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


Aplasia of the proximal phalanges of the toes


Decreased CD25 upregulation upon TCR activation

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


renal artery atheroma

A atherosclerosis that involves the renal artery.


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


Microdontia

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


Ejection click

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


Hypoplastic spleen

Underdevelopment of the spleen.


Bullet-shaped distal phalanx of the 2nd toe

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


Finger flexor weakness

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


Focal cognitive seizure with expressive dysphasia/aphasia

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


Diffuse pancreatic islet hyperplasia

Hyperplasia of the islets of Langerhans with a generalized distribution.


Distal lower limb amyotrophy

Muscular atrophy of distal leg muscles.


Rectal arteriovenous malformation

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


Sclerosis of foot bone

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


Metaphyseal striations

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


Hypoplasia of the vestibular nerve

Underdevelopment of the vestibular nerve.


Bronchocentric granulomatosis

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


Decreased CSF neopterin level

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


Abnormal circulating beta-C-terminal telopeptide concentration

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


Anterior beaking of thoracic vertebrae

Anterior tongue-like protrusions of thoracic vertebral bodies.


Focal impaired awareness motor seizure with dysarthria/anarthria

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


Hip contracture

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


Posterior helix pit

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


Anterior predominant subcortical band heterotopia

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


pituitary stalk interruption syndrome

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


Decreased circulating GABA concentration

A decrease in the level of GABA in the serum.


Testicular adrenal rest tumor

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


Increased CSF uracil concentration

An increased level of uracil in the cerebrospinal fluid.


Impaired thromboxane A2 agonist-induced platelet aggregation

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


Intimal thickening in the coronary arteries


Atonic seizure

Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.


Curved distal phalanx of the 4th finger

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


Abnormality of the urinary system physiology


Unilateral renal atrophy

A unilateral form of atrophy of the kidney.


ovarian teratoma

A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor.


Fibular metaphyseal irregularity

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


Increased level of xylitol in urine

An increase in the level of xylitol in the urine.


Biparietal narrowing

A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull).


Reduced number of intrahepatic bile ducts

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


prune belly syndrome

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


Handgrip myotonia

Difficulty releasing one's grip associated with prolonged first handgrip relaxation times.


Spermatocele

A cystic structure arising from the epididymis, rete testis or efferent ductuli. These structures are filled with spermatozoa containing fluid that may be milky. These cysts are usually outside the tunica vaginalis and, as with hydrocele, transluminate easily.


Reduced imaginative play skills

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


Abnormal circulating histidine concentration

An abnormality of a histidine metabolic process.


Narrow uvula

Decreased width of the uvula.


Cigarette-paper scars

Thin (atrophic) and wide scars.


Patchy sclerosis of 4th toe phalanx

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


Short palm

Short palm.


Abnormal mandible morphology

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


Focal sensory seizure with auditory features

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


Nodular subcortical heterotopia in peritrigonal regions

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


Absent pigmentation of the abdomen

Lack of skin pigmentation (coloring) of the abdomen.


myelocystocele

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


Preductal coarctation of the aorta

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


cerebral degeneration

A neurodegenerative disease that involves the telencephalon.


Dilated left subclavian artery

Abnormally increased caliber of the left subclavian artery.


Abnormal dental root morphology

An abnormality of the dental root.


Abnormal blood oxygen level

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


Abnormal fetal physiology

Any functional anomaly of the fetus.


Anterior beaking of lumbar vertebrae

Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine.


Disproportionate prominence of the femoral medial condyle


Impaired neck-righting reflex

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


Decreased cervical spine flexion due to contractures of posterior cervical muscles


neurohypophyseal diabetes insipidus

Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.


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


Advanced eruption of teeth

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


Dermatan sulfate excretion in urine

An increased concentration of dermatan sulfate in the urine.


brachial plexus neuropathy

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


Disorganization of the anterior cerebellar vermis


Abnormal T cell count

A deviation from the normal count of T cells.


Benign genitourinary tract neoplasm

A non-malignant neoplasm of the genitourinary system.


Compound muscle action potential amplitude facilitation

Compound muscle action potential amplitude (CMAP) facilitation denotes an increase in tendon reflexes, strength, or CMAP amplitude after 10 seconds of maximal voluntary contraction.


Thistle tube shaped pulp

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


cystic disease of lung

The presence of multiple lung cysts.


Increased level of ribitol in CSF

An increase in the level of ribitol in the cerebral spinal fluid.


External carotid artery calcification

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


urocanic aciduria

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


Abnormal keratinocyte morphology

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


Increased vertebral height

Increased top to bottom height of vertebral bodies.


Purulent rhinitis

Chronic rhinitis accompanied by pus formation.


Anti-ryanodine receptor antibody

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


Inappropriate sexual behavior

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


choroid plexus cyst

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