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

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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

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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 occur when the content and/or emotional impact of the dream is connected to a 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.


Risky behavior

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


Elevated circulating very long-chain acylcarnitine concentration

Concentration of very long-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Very long-chain acylcarnitines have twentyone or more carbon atoms in the acyl-chain (C21 and higher),


Short distal phalanx of the 2nd finger

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.


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.


Irregular epiphyses of the 4th finger

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


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

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


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.


Aplasia/Hypoplasia of the corpus callosum

Absence or underdevelopment of the corpus callosum.


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


Left atrial isomerism

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.


Large keratohyaline granules

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


Radiculomegaly

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.


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).


Abnormal long bone morphology

An abnormality of size or shape of the long bones.


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 localized hypertrichosis characterized 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.


Abnormal olfactory lobe morphology

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


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.


Irregularly shaped keratohyaline granules

Abnormal shape of keratohyaline granules in dermal keratinocytes.


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.


Elevated circulating alpha-aminoadipic semialdehyde concentration

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


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.


Cardiac lipoma

A lipoma that is located within a the heart.


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.


Decreased facial expression reciprocity

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


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).


Elevated circulating long-chain acylcarnitine concentration

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


Air crescent

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


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.


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.


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.


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.


Laryngospasm

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


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.


Abnormal 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.


Supernumerary vertebral ossification centers

Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine.


Focal orofacial automatism seizure

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


Frontal hirsutism

Excessive amount of hair growth on forehead.


Duodenal atrophy

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


Perimembranous ventricular septal defect

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


Hypoplasia of fetal nasal bone

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


Supraventricular tachycardia with a manifest accessory pathway on the septum


Abnormal circulating renin

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


Ankle weakness

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


Elevated circulating histamine concentration

Increased concentration of histamine in the blood circulation.


Recurrent cutaneous fungal infections

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


Abnormal epiphysis morphology

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


Atrichia

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


Bleeding with minor or no trauma

Significant bleeding or hemorrhage without significant precipitating factor.


Abnormal cranial ganglion morphology

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


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


Elevated circulating dihydrothymine concentration

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


Hemiplegia/hemiparesis

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


Focal cognitive seizure with hallucination

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


Abnormal spleen morphology

Any anomaly of the structure of the spleen.


Abnormality of the urachus

Abnormality of the urachus.


Cafe-au-lait spot

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


EEG with 4-5/second background activity

EEG background activity at 4-5/second.


Fatigable weakness of neck muscles

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


Focal aware cognitive seizure with neglect

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


Enamel hypomineralization

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


Irregular epiphyses of the 5th finger

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


Hypoalaninemia

A decreased amount of alanine in the blood.


Streaks of hyperkeratosis along each finger onto the palm


Perifollicular fibrosis

Presence of excess fibrous connective tissue surrounding hair follicules.


Anti-reticulin antibody positivity

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


CNS hypermyelination

Increased amount of myelin in the central nervous system.


Macrotia

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


Abnormal circulating calcitonin concentration

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


Increased circulating palmitate level

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


Asherman syndrome

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


Increased urinary orosomucoid

An increased concentration in the urine of alpha-1-acid glycoprotein (AGP), also known as orosomucoid (ORM). AGP is a 41-43-kDa glycoprotein with a pI of 2.8-3.8. AGP is an acute-phase protein that has many activities including, but not limited to, acting as an acute-phase reactant and disease marker, modulating immunity, binding and carrying drugs, maintaining the barrier function of capillary, and mediating the sphingolipid metabolism.


Abnormality of tensor veli palatini muscle

An abnormality of the tensor veli palatini muscle


Fetal pericardial effusion

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


Aortic annulus calcification

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


Palmar warts

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


Corpus cavernosum hypoplasia

A developmental anomaly characterized by undergrowth of the corpus cavernosum.


ganglioneuroma

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


Fractured hindlimb bone

A partial or complete breakage of the hindlimb bone.


Abnormal medulla oblongata morphology

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


Hypoplastic trochlear nerve

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


Fusiform descending thoracic aortic aneurysm

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


Dermal translucency

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


Centrilobular ground-glass opacification on pulmonary HRCT

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


Decreased glucose-6-phosphate dehydrogenase level in leukocytes

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


Precocious puberty with Sertoli cell tumor


Focal perseverative automatism seizure

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


Short N3 sleep

Disruptions in the third stage of NREM sleep.


Persistent viremia

Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host.


Accessory scrotum

Additional scrotum, or part of a scrotum in an abnormal location.


Elevated urinary norepinephrine level

The concentration of noradrenaline in the urine, normalized for urine concentration, is above the upper limit of normal.


Focal aware sensory seizure with gustatory features

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


Multicentric ossification of proximal humeral epiphyses


Breech presentation

A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first.


Epidermal necrosis

Death of keratinocytes in the epidermis layer of the skin, which generally manifests as extensive exfoliation (separation of the epidermis from the underlying dermis).


Cardiomyocyte inclusion bodies

Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes.


Aplasia of the middle phalanx of the 2nd toe


Abnormal magnesium concentration

An abnormality of magnesium ion homeostasis.


Abnormal circulating properdin level

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


Esophageal stricture

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


Abnormal endocrine morphology

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


Abnormal cardiac ventricular function

An abnormality of the cardiac ventricular function.


Spinal myoclonus

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


Reduced epidermal collagen VII protein expression


Levotransposition of the great arteries

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


Complete duplication of hallux phalanx

Complete duplication of one or more phalanx of big toe.


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


Postnatal growth retardation

Slow or limited growth after birth.


Congenital symmetrical palmoplantar keratosis


Abnormal upper-limb motor evoked potentials

An anomaly identified by motor evoked potentials (MEPs) in the arm.


dentinogenesis imperfecta

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


Cold-induced muscle cramps

Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures.


complement deficiency

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


Abnormal larynx physiology

Any anomaly of the function of the larynx.


Abnormality of the epiphysis of the 1st metacarpal

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


familial multiple nevi flammei

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


Recurrent candida infections

An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections.


Increased circulating argininosuccinic acid

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


Irregular proximal tibial epiphyses

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


Subendothelial glomerular basement membrane electron dense deposits

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


Musty odor

Pungent body odor.


Left superior vena cava draining directly to the left atrium

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


Pink urine

An abnormal pink color of urine.


Abnormal anterior semicircular canal morphology


Limited repertoire of facial expression

An abnormally limited range of facial expressions demonstrated by a lack of nuance of facial expression to match specific social situations or an inability to demonstrate a normal range of emotions with one's face.


Focal sexual automatism seizure

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


Mild receptive language delay

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


Abnormal proportion of naive B cells

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


PR segment depression

A reduction in voltage of the PR segment below baseline.


Striatal T2 hyperintensity

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


Bladder polyp

An abnormal growth that projects from the mucous membrane of the urinary bladder.


Recurrent streptococcal infections

Increased susceptibility to streptococcal infections, as manifested by recurrent episodes of streptococcal infections.


Abnormality of the distal radial epiphysis

Any abnormality of the distal epiphysis of the radius.


fibroma

A non-metastasizing neoplasm arising from the fibrous tissue. It is characterized by the presence of spindle-shaped fibroblasts.


Displaced tracheal bronchus

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


Abnormality of the joint spaces of the elbow


Induced vaginal delivery

Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own.


Abnormality of the subungual region

A lesion located beneath a fingernail or toenail.


Proximal/middle symphalangism of 5th toe

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


Temporomandibular joint adhesion

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


Increased total iron binding capacity

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


Focal impaired awareness sensory seizure with visual features

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


Microcephaly

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


Episodic pain

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


Aortic medial fibrosis

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


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

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


Abnormal renal arteriole morphology

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


Long distal phalanx of finger

Increased length of the distal phalanx of finger.


Decreased circulating IgG4 level

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


Symphalangism affecting the proximal phalanx of the 4th finger

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


Presacral teratoma

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


Fragmentation of the epiphysis of the distal phalanx of the hallux


Senile plaques

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


Erythematous macule

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


Focal aware automatism seizure

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


Spinocerebellar tract disease in lower limbs


Elevated urine L-alloisoleucine level

Abnormally increased level of L-alloisoleucine in the urine.


Abnormal distal ulnar epiphysis morphology

Any abnormality of the distal epiphysis of the ulna.


Irregular epiphysis of the distal phalanx of the hallux


Abnormality of the distal phalanx of the hallux


Hip adductor weakness

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


spastic hemiplegia

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


Sensory hypersensitivity

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


Osteoporotic metatarsal

Decrease in mass and density of the metatarsal bones.


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

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


aortic valve disease 1

Any aortic valve disease in which the cause of the disease is a mutation in the NOTCH1 gene.


Thumb extension contracture

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


Postprandial hyperlactemia

Abnormally increased level of blood lactate following a meal.


Elevated circulating 3-hydroxyhexadecanoylcarnitine concentration

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


Renal interstitial immunoglobulin deposits

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


Prolonged QTc interval

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


Congenital ichthyosiform erythroderma

An ichthyosiform abnormality of the skin with congenital onset.


Type IV atherosclerotic lesion

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


Alpha-aminobutyric aciduria

Increased amount of alpha-aminobutyric acid in the urine.


Thyroid lymphangiectasia

The presence of lymphangiectasis of the thyroid gland.


Hypoplastic nasopharyngeal adenoids

Underdevelopment of the nasopharyngeal adenoids.


Partial duplication of the phalanx of hand

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


Elevated circulating porphyrin concentration

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


Symphalangism affecting the proximal phalanx of the 3rd toe


Peripheral primitive neuroectodermal neoplasm

A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone.


Abnormality of extrinsic muscle of tongue


Abnormal tongue morphology

Any structural anomaly of the tongue.


Reduced circulating acylcarnitine concentration

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


Patchy sclerosis of the distal phalanx of the 2nd finger

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


Decreased urine urobilinogen

An abnormally reduced concentration of urobilinogen in the urine.


Preauricular hair displacement

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


Ecchymosis

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


Anti-platelet derived growth factor receptor

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


juvenile type testicular granulosa cell tumor

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


Carpal bone aplasia

Congenital absence of a carpal bone.


Unilateral vestibular schwannoma

A unilateral vestibular schwannoma (acoustic neurinoma).


Splenic xanthomatosis

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


Interphalangeal thumb joint contracture

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


Reduced sharing of interests

Decreased sharing of interests with others appropriate to culture and developmental level.


Lip pit

A depression located on a lip.


Bracket epiphysis of the proximal phalanx of the 4th finger

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


Micrographia

Abnormally small-sized handwriting is formally defined as an impairment of fine motor skills, which mainly manifests as a progressive or stable reduction in amplitude during a writing task.


2-3 toe syndactyly

Syndactyly with fusion of toes two and three.


Chiari malformation type II

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


Elevated right atrial pressure

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


Transient decreased circulating total IgG

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


Opportunistic fungal infection

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


Fetal nuchal edema

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


Pili canaliculi

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


Cutaneous sclerotic plaque

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


Red-brown urine

An abnormal red-brown color of the urine.


Monomorphic vesicular eruption

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


urticaria, aquagenic

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


Hepatic agenesis

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


Abnormal metabolism

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


Achilles tendonitis

Inflammation of the Achilles tendon.


Elevated RV/TLC ratio

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


facial nerve disorder

A disease involving the facial nerve.


Elevated urine octanoic acid level

Amount of octanoic acid in the urine above the upper limit of normal.


Abnormal tarsal ossification

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


Hypoplasia of the olfactory bulb

Underdevelopment of the olfactory bulb.


Phobia

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


Abnormal thrombosis

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


Increased circulating heparan sulfate level

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


Sudden unexpected death in epilepsy

Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination has not revealed a cause of death.


Functional abnormality of the inner ear

An abnormality of the function of the inner ear.


Linear IgG deposits along the epidermal basement membrane zone

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


Absent uvula

Lack of the uvula.


Osteolytic defects of the middle phalanx of the 5th toe


Anti-GlyR antibody

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


Esophageal duplication

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


Absent right sided atrioventricular connection

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


Bence Jones Proteinuria

The presence of free monoclonal immunoglobulin light chains in the urine.


Small cervical vertebral bodies

Reduced size of cervical vertebrae.


Atrial septal hypertrophy

An abnormal increase in the thickness of the atrial septum.


Irregular epiphyses of the middle phalanges of the hand


Proximal/middle symphalangism of 3rd finger

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


Hepatic hemophagocytosis

Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages observed in the liver.


Positive lupus band test

Deposits of immunoglobulins and complement components along the dermoepidermal junction.


Impaired neutrophil killing of staphylococci

A reduction in the ability of neutrophils to kill the gram-positive bacteria, staphylococcus, which is commonly known as staph.


Substantia nigra dopaminergic neuron loss

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


Inflexible adherence to routines

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


Fixated interests

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


Narrow incisura width

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


Basilar 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 basilar artery.


Inguinal abscess

A circumscribed area of pus or necrotic debris in the groin (inguinal region).


Abnormal ovarian physiology

Any anomaly of ovarian function.


neuroblastic tumor

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


Acrocyanosis

Bluish discoloration of the skin of the hands or feet.


myoclonic-astatic epilepsy

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


Abnormality of frontal process of maxilla

An abnormality of a frontal process of the maxilla bone.


Schmorl's node

A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra.


Bent sperm flagella

The proportion of sperm cells whose flagella is sharply curved or has a sharp angle is above normal limits.


Ivory epiphysis of the middle phalanx of the 5th finger

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


Hypothalamic gonadotropin-releasing hormone deficiency


Mild albuminuria

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


Interlobular vein intima/media multilamellation

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


Severe sensorineural hearing impairment

A severe form of sensorineural hearing impairment.


Peripheral arterial calcification

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


Impaired epinephrine-induced platelet aggregation

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


Pulmonic valve myxoma

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


Abnormal morphology of the proximal phalanx of the 2nd toe


aplasia cutis congenita

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


Unicuspid aortic valve

The presence of an aortic valve with one instead of the normal three cusps (flaps).


Rounded middle phalanx of finger

An abnormally round shape of the middle phalanx of the finger.


Bilateral intracerebral calcifications

Deposition of calcium salts on both sides of the brain.


Y-shaped metatarsals

Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly.


Aplasia cutis congenita of midline scalp vertex


Abnormal thyroid-stimulating hormone level

Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.


Tibial bowing

A bending or abnormal curvature of the tibia.


High posterior hairline

Hair on the neck extends less inferiorly than usual.


Bilateral single transverse palmar creases

The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands.


Episodic fatigue

Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation.


atresia of urethra

Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development.


Subarterial ventricular septal defect

A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum.


paranasal sinus neoplasm

A benign or malignant neoplasm that affects the paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.


Asternia

The congenital absence of the sternum.


Animal dander allergy

Hypersensitivity in form of an adverse immune reaction against animal dander.


Increased circulating complement factor H related protein 1 concentration

Elevated level of circulating complement factor H related protein 1 concentration in the blood circulation.


Elevated circulating 3-hydroxybutyric acid concentration

Elevation of the 3-hydroxybutyric acid concentration in the blood above the normal range.


chylous ascites

Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain.


Abnormal odontoid process morphology

Abnormal structure of the odontoid process, which is a part of the C2 or axis vertebra and forms pivot of the structures forming the craniovertebral junction. The odontoid process is also known as the dens of the axis.


Focal aware cognitive seizure with illusion

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


Midclavicular aplasia

Developmental defect resulting in congenital absence of the middle portion of the clavicle.


Focal impaired awareness cognitive seizure

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


Urinary mulberry cells

Distal tubular epithelial cells in which globotriaosylceramide (Gb3) has accumulated. they are the characteristic feature of Fabry disease. Urinary mulberry bodies are a component of mulberry cells that can be distinguished easily from fat particles by their inner lamellar appearance.


disorder of sexual differentiation

A congenital disorder characterized by abnormalities in the development of the sexual characteristics.


Ivory epiphysis of the proximal phalanx of the 3rd toe


Peripheral hypermyelination

Increased amount of peripheral myelination.


Sparse anterior scalp hair

Decreased number of head hairs per unit area on the anterior region of the scalp.


Complete tracheal ring

Continuous or nearly continuous configuration of the cartilaginous tracheal ring.


Herpetiform vesicles

Multiple vesicles distributed in multiple distinct groups consisting of multiple adjacent vesicles.


Cognitive fatigue

A failure to sustain attention that requires self-motivation to optimize performance.


Complete duplication of the middle phalanx of the 2nd toe

Complete duplication of middle phalanx of second toe.


Ivory epiphysis of the proximal phalanx of the 4th toe


Fetal abdominal cyst

Fetal abdominal cysts are usually detected during the second trimester anomaly scan or discovered incidentally at later gestations. However, a definitive diagnosis is often not made until postnatal life. The most common etiologies of fetal abdominal cysts are: ovarian, gastrointestinal cystic duplication, liver and choledochal, meconium pseudocysts, mesenteric and adrenal. Following identification of a cyst, careful morphological assessment allows the prediction of their natural history and importantly, the likelihood of surgical intervention being required postnatally.


Precocious puberty in males

The onset of puberty before the age of 9 years in boys.


Prolonged central motor conduction time

Increased duration of the central motor conduction time (CMCT). The CMCT estimates the conduction time of corticospinal fibers between motor cortex and spinal (or bulbar) motoneurons. It includes the times for excitation of cortical cells, conduction via the corticobulbar-corticospinal tract and excitation of the motoneuron sufficient to reach its firing threshold. CMCT is calculated by subtracting the peripheral conduction time from the MEP latency recorded after cortical stimulation.


Anti-pituitary antibody positivity

Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function.


Long ulna

Increased length of the ulna.


diffuse nonepidermolytic palmoplantar keratoderma

A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis.


Curved 4th toe phalanx

A deviation from the normal straight form of one or more phalanges of the fourth toe.


Sclerosis of the proximal phalanx of the 5th finger


EEG with temporal focal spike waves

EEG with focal sharp transient waves in the temporal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.


Abnormal circulating hyaluronic acid concentration

A deviation from the normal concentration of hyaluronic acid in the blood.


Focal sensory seizure with cephalic sensation

A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation.


Recurrent cystitis

Repeated infections of the urinary bladder.


Hyperplasia of the Leydig cells

Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone.


Anti-thyroglobulin antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin.


Parasite allergy

Hypersensitivity in form of an adverse immune reaction against parasites.


Polygonal renal calices

An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance).


liposarcoma

A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors.


Cutaneous anergy

Inability to react to a delayed hypersensitivity skin test.


Reduced progressive sperm motility

A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increaed proportion of sperm that move in tight circles or in some other non-linear fashion.


Impaired cortisol response to insulin stimulation test

Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT).


Uterine prolapse

The presence of prolapse of the uterus.


Onychogryposis

Nail that appears thick when viewed on end.


Hyperdynamic left ventricular ejection fraction

An abnoramlly increased ejection fraction of the left ventricle, usually defined as a left ventricular ejection fraction greater than 70 percent.


Fractured metacarpus skeleton

A partial or complete breakage of the metacarpus skeleton.


Widow's peak

Frontal hairline with bilateral arcs to a low point in the midline of the forehead.


Bilateral coxa valga

The presence of bilateral coxa valga.


Abnormal HDL2a concentration

Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2a particle is defined as an HDL particle with a size of 8.80-9.69 nm.


Dust particle inclusion in alveolar macrophages

Accumulation of inhaled, nondigestable particles in macrophages.


Bilateral radial aplasia

Missing radius bone on both sides associated with congenital failure of development.


Abnormal blood potassium concentration

An abnormal concentration of potassium.


Triangular shaped distal phalanx of the 2nd toe


Triangular shaped distal phalanges of the hand


Neutrophilic infiltration of the skin

A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin).


telangiectasia macularis eruptiva perstans


Foot osteomyelitis

An infection of bone of the foot.


Calcification of the small brain vessels

Deposition of calcium salts within small blood vessels of the brain.


Enamel pearls

Small nodules of enamel on the root of a tooth.


Aplasia/Hypoplasia of the mandible

Absence or underdevelopment of the mandible.


Curved proximal phalanx of the 4th finger


Stroke-like episode

No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours.


Abnormal glomerular filtration rate

An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.


Abnormal ischium morphology

An anomaly of the ischium, which forms the lower and back part of the hip bone.


inner ear neoplasm

A rare neoplasm that arises from the inner ear. Representative examples include lipoma and acoustic schwannoma.


Increased inflammatory response

A abnormal increase in the inflammatory response to injury or infection.


Abnormal consumption behavior

Recurrent abnormal consumption of food, liquids, or objects that could have negative consequences for the individual.


Absent sternal ossification

Lack of formation of mineralized bony tissue of the sternum.


Coronary ostial atresia

Absence of the normal opening of a coronary ostium. There are normally two coronary ostia, which are site of origin of the main left or right main coronary artery and are located in the ascending aorta just above the aortic valve.


Anterior pituitary agenesis

Absence of the anterior pituitary gland resulting from a developmental defect.


Weakness of muscles of respiration

Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles.


Paresis of extensor muscles of the big toe


Decreased urinary 3-methylhistidine

Decreased concentration of 3-methylhistidine in the urine.


Splayed toes

Divergence of digits along the anteroposterior axis (in the plane of the sole).


isolated congenital adermatoglyphia

Isolated congenital adermatoglyphia is a rare, genetic develomental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.


Osteolytic defects of the phalanges of the 3rd toe


Anti-aquaporin 4 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against aquaporin-4.


Complete right sided absence of pericardium

No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy.


Abnormal circulating protein concentration

An abnormal level of a circulating protein in the blood.


Absent palatine bone ossification

Lack of formation of the palatine bone.


Arteria lusoria

Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria.


Abnormality of central somatosensory evoked potentials


Olivopontocerebellar hypoplasia

Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus.


Abnormal cricoid cartilage morphology

Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx.


Cone-shaped epiphyses of the 2nd finger

A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.


Galactosuria

Elevated concentration of galactose in the urine.


Advanced pneumatization of cranial sinuses

A degree of pneumatization that is increased compared to age-related norms.


Myoclonic absence seizure

Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017.


Experiential epileptic aura

Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.


Coronary artery fistula

A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel.


Prenatal double bubble sign

Sonographic detection of a double bubble sign in the upper abdomen is strongly indicative of duodenal obstruction. One bubble represents fetal stomach, and the other is attributed to a dilated proximal part of the duodenum; continuity between both bubbles is required for the sign.


Abnormal urinary mineral level

An abnormal concentration or amount of a mineral in the urine. Medically relevant minerals include calcium, phosphorus, potassium, sodium, chloride, magnesium, iron, zinc, iodine, chromium, copper, fluoride, molybdenum, manganese, and selenium.


Segmental hypoplasia of liver

Anatomically the liver is divided into right and left lobes based on the attachment of its peritoneal ligaments. This term refers to a developmental anomaly characterzied by the underdevelopment of one of the lobes of the liver. This is a rare and usually asymptomatic anomaly that can be detected incidentally on cross sectional imaging with computed tomography or magnetic resonance imaging.


Hepatic focal nodular hyperplasia

Hepatic focal nodular hyperplasia (FNH) is a benign hepatic tumor. FNH develops within hepatic parenchymal tissue that is otherwise histologically normal. Macroscopically, the tumor is characterized by the presence of depressed, grayish-white scar, which is generally (but not always) located at the center of the lesion, with fibrous septa radiating outward, toward the periphery of the tumor. This stellate scar is found in only 50% of all FNH nodules, but its presence is regarded as pathognomonic. The lesion itself is usually lighter in color than the tissue that surrounds it, and it sometimes has a yellowish hue. FNH nodules are generally not capsulated; their margins are well defined, and they are sometimes lobulated.


Cortical radial artery intima/media arteriosclerosis

Thickening of the intima of the cortical radial artery (also known as the interlobular artery) of the kidney characterized by fibrosis and/or duplication of the elastic lamina.


Dystopic os odontoideum

Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process. With orthotopic os odontoideum, the ossicle moves with the anterior arch of the atlas, while the dystopic type consists of an ossicle near the basion, or one that is fused with the clivus


Palmar hyperkeratosis

Abnormal thickening of the skin localized to the palm of the hand.


Polymorphic and polytopic ventricular extrasystoles


Fatigable weakness of chewing muscles

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


Ivory epiphysis of the middle phalanx of the 2nd toe


Persistent stapedial artery

Persistence of the stapedial artery, which normally regresses during embryonic life.


Elevated circulating o-phosphoethanolamine concentration

An increased concentration of o-phosphoethanolamine in the blood circulation.