Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis

A double outlet right ventricle with a subaortic ventricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


Lichenoid skin lesion

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Mutliple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple), shiny, isolated, flat-topped papules and plaques.


Fixated interest with abnormal focus

A fixated interest in a specific topic that is atypical for the social context of the individual, such as topics of a non-social nature like fossils or vacuum cleaners.


hair follicle neoplasm

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A benign or malignant neoplasm arising from the hair follicle.


Elevated CSF gamma-aminobutyric acid concentration


Aplasia/hypoplasia involving bones of the upper limbs

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


Complete duplication of the middle phalanx of the 3rd toe

Complete duplication of middle phalanx of third toe.


Focal impaired awareness sensory seizure with olfactory features

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


Axial malrotation of the kidney

An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney.


Increased circulating surfactant protein level

An increased concentration of a surfactant protein in the blood circulation. Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions. These two proteins are detectable in the bloodstream and an elevated level may reflect idiopathic pulmonary fibrosis.


Addictive non-substance behaviors

Uncontrolled use or problematic behaviors of dependency without the use of drugs or substances can be detrimental.


Wide nasal bridge

Increased breadth of the nasal bridge (and with it, the nasal root).


Pretesticular azoospermia

Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels.


Left aortic arch with right descending aorta and right ductus arteriosus

The ring may be completed by the ductal ligament.


Internal 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 internal carotid artery.


Decreased lymphocyte proliferation in response to anti-CD3

A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3.


Melanin pigment aggregation in hair shafts


Gottron sign

Erythematous macules or patches over extensor surfaces of elbows, knuckles, knees, and ankles.


Pulmonary interstitial thickening

Pathological thickening of the pulmonary interstitium visualized radiographically and divided into interlobular and intralobular septal thickening.


Increased anti-bacteria IgE antibody level

Increased level of IgE antibody against bacteria.


Impaired platelet aggregation

An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.


cutis marmorata telangiectatica congenita

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.


nevus comedonicus syndrome

A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood.


Short 3rd metacarpal

Short third metacarpal bone.


Reduced beta/alpha synthesis ratio

A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia.


Abnormal alveolar type II pneumocyte morphology

Any structural abnormality of alveolar type 2 (ATII) cells.


Ivory epiphysis of the distal phalanx of the 4th finger

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


Anti-MIT3 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against MIT3.


Antihelical shelf

Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha.


Reduced circulating creatine concentration

An reduction below the normal range of creatine in the blood circulation.


Curved distal phalanx of the 5th toe

A deviation from the normal straight form of the distal phalanx of the fifth toe.


Cortical radial artery intima/media liquefactive necrosis

A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.


Enlarged epiphysis of the middle phalanx of the 2nd finger


Discontinuous ascending root of helix

Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid.


Abnormal left ventricular outflow tract morphology

An abnormality of the outflow tract of the left ventricle.


Increased proportion of memory B cells

An elevation in the proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).


fibroblastic neoplasm

A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts.


Agranulocytosis

Marked decrease in the number of granulocytes.


Abnormal fetal central nervous system morphology

An anomalous structural finding of the fetal central nervous system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.


Smooth septal thickening on pulmonary HRCT

Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a smooth appearance of the interlobular septa.


Total hyposmia

Reduced ability to detect any qualitative olfactory sensation.


Platonychia

Abnormal flat nail.


Focal aware vocal automatism seizure

A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset and during which awareness is fully retained throughout.


Focal atonic seizure

A focal seizure characterized at onset by sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting more than 500 ms but less than 2 seconds. It may involve the head, trunk, jaw or limb musculature.


Anti-aminoacyl-tRNA synthetase antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a tRNA synthetase enzyme.


Frequent temper tantrums

Temper tantrums that occur more frequently compared to the temper tantrums that are a part of the normal developmental process.


acheiria

The total absence of the hand, with no bony elements distal to the radius or ulna.


Patchy sclerosis of 2nd finger phalanx

Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger.


Stiff wrist

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


Abnormality of ductus venosus blood flow

A first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus.


Interictal epileptiform activity

Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure.


Fragmentation of the epiphyses of the 4th finger

Fragmented appearance of the epiphyses of the 4th finger.


Decreased specific antibody response to infection

A reduced ability to synthesize antibodies against antigens from an infectious agent or pathogen (such as bacteria, viruses, parasites, etc.), as measured by antibody titer determination following infection.


Accumulation of lipid droplets in small-bowel enterocytes


Generalized hirsutism

Abnormally increased hair growth over much of the entire body.


Cone-shaped epiphyses of the 5th finger

A cone-shaped appearance of the epiphyses of the 5th 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.


Predominantly dermal neutrophilic infiltrate

Collection of neutrophils in the dermis.


Decreased circulating metanephrine concentration

Concentration of metanephrin in the blood circulation below the lower limit of normal.


Abnormal circulating pregnenolone concentration

An abnormality of the concentration of pregnenolone in the blood.


Prominent nasolabial fold

Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure).


Exanthem

A widespread rash.


Occipital meningocele

A herniation of meninges through a congenital bone defect in the skull in the occipital region.


Focal emotional seizure with pleasure

Focal emotional seizure with pleasure is characterized by the presence of a positive emotional experience with pleasure, bliss, joy, enhanced personal well-being, heightened self-awareness or ecstasy.


Abnormal female reproductive system physiology


Auditory sensitivity

Decreased tolerance to sound.


Narrow femoral neck

An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).


Abnormal circulating deoxycorticosterone level

An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone.


Abnormal lung lobation

A developmental defect in the formation of pulmonary lobes.


Increased neutrophil ribosomes

An increased number of ribosomes detected in neutrophils.


Intrapartum fever

The occurence of maternal fever during labor.


aprosencephaly

A very rare congenital brain defect in which the cerebral cortex, striatum, globus pallidus, thalamus, hypothalamus, and eyes are absent or rudimentary.


Renal interstitial inflammation

Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells.


Rosenthal fibers

Thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on H&E staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders.


Absent ray

The absence of all phalanges of a digit and the associated metacarpal /metatarsal.


Abnormal amyloid beta 40 peptide CSF concentration

Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta40, which is 40 amino acids in length, is the shorter form.


Focal impaired awareness emotional seizure with paranoia

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


Auditory hypersensitivity

Hyperresponsive to sound that is abnormal in intensity and/or frequency.


Subcutaneous arteriolar thrombosis

Fibrin thrombi inside subcutaneous arterioles.


tricuspid valve stenosis

Narrowing or stricture of the tricuspid orifice of the heart.


Neurenteric cyst

The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium.


Double inlet atrioventricular connection

The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve.


Triangular epiphysis of the distal phalanx of the 3rd finger

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


atrophic glossitis

Glossy appearance of the entire tongue surface.


Anti-PKCgamma antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against protein kinase Cgamma.


Short nasal septum

Reduced superior to inferior length of the nasal septum.


Small proximal tibial epiphyses

Reduced size of the proximal epiphysis of the tibia.


Elevated circulating 7-dehydrocholesterol concentration

Concentration of 7-dehydrocholesterol in the blood circulation above the upper limit of normal.


Patchy sclerosis of the distal phalanx of the hallux


Abnormal renal arteriole intima/media morphology

Any structural anomaly located in the inner or middle layer of the arterioles of the kidney.


vulvodynia

Vulvodynia is a chronic pain syndrome that affects the vulvar area and occurs without an identifiable cause. Symptoms typically include a feeling of burning or irritation. For the diagnosis to be made symptoms must last at least 3 months.


Abnormal proportion of memory T cells

An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response.


Congenital pouch colon

A malformation of the colon in which a pouch-like dilatation of a varying degree of shortened colon is associated with an anorectal malformation. The pouch usually terminates in a fistulous communication with the genitourinary tract.


Abnormal CSF glutamine family amino acid concentration

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


Distal/middle symphalangism of 2nd finger

Fusion of the terminal/distal and middle phalanges of the 2nd finger.


Grasp reflex

A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395].


Abnormality of the epiphyses of the elbow


Abnormal male urethral meatus morphology


Single lineage myelodysplasia

Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic).


Heavy proteinuria

Severely increased levels of protein in the urine (1000-3000 mg per day in adults).


Subcutaneous spheroids

Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray.


Infection-related seizure

Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever.


Atrophy of the dentate nucleus

Partial or complete wasting (loss) of dentate nucleus.


Aplasia/Hypoplasia of the frontal sinuses

Absence or underdevelopment of frontal sinus.


Delayed CNS myelination

Delayed myelination in the central nervous system.


Fetal tachycardia

The number of beats per minute (bpm) of the fetal heart is above the upper limit of the normal for the gestational age. Fetal tachycardia is thus defined as a heart rate greater than 160-180 bpm.


Granulomatous cholangitis

Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts.


Renal tubular polyoma virus inclusions

Renal tubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection.


Skin infectious agent

The presence of an infectious agent in the skin.


Super-refractory status epilepticus

Super-refractory status epilepticus is defined as refractory status epilepticus continuing for 24 h or more following initiation of anesthetic medications, including cases in which seizure control is attained after induction of anesthetic drugs but recurs on weaning the patient off the anesthetic agent.


Abnormality of the Achilles tendon

An abnormality of the Achilles tendon.


Increased anti-gluten IgE antibody level

Increased level of IgE antibody against gluten, a protein found in wheat, barley, and rye.


Abnormal thalamus morphology

An abnormality of the thalamus.


Increased anti-nut food product IgE antibody level

Increased level of IgE antibody against nut food products such as peanuts or tree nuts, such as hazelnuts, walnuts, cashews, and almonds.


Splenic lipid-laden macrophage infiltration

Accumulation of foamy cells (lipid-laden macrophages) in the parenchyma of the spleen.


Focal cognitive seizure with dyscalculia/acalculia

A focal cognitive seizure characterized by dyscalculia / acalculia as the initial semiological manifestation.


Increased anti-animal protein IgE antibody level

Increased level of IgE antibody against animal proteins, such as albumins that are present in animal hair, dander, shed skin, saliva and urine.


Fibrocellular crescent

A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix.


Malignant rhabdoid tumor of the bladder

A rhabdoid tumor (a rare aggressive malignancies in infants and young children with a poor prognosis) originating in the urinary bladder.


Fractured epiphysis of middle phalanx of manus

A partial or complete breakage of the epiphysis of middle phalanx of manus.


Bowman capsular hyaline drops

An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material.


Euthyroid hyperthyroxinemia

Increased levels of thyroxine without evidence of clinical thyroid disease.


Elevated circulating acetylcarnitine concentration

Concentration of acetylcarnitine (C2 acylcarnitine) in the blood circulation above the upper limit of normal. Acetylcarnitine has a two-carbon acyl chain.


Anti-centromere antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components.


Absent pubic hair

Absence of pubic hair.


Abnormal circulating A-type atrial natriuretic peptide concentration

A measurable change in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.


Reduced response to social cues

Abnormality in the way one responds to social cues such as a verbal cue (which should cause one to shift attention) or someone sharing their emotions (which should elicit a sympathetic response).


Neck muscle hypertrophy

Muscle hypertrophy affecting the muscles of the neck.


Submucous cleft palate

A cleft of the muscular portion of the palate that is covered by mucous membrane.


Progressive proximal muscle weakness

Lack of strength of the proximal muscles that becomes progressively more severe.


Infracardiac total anomalous pulmonary venous connection

Type 3 total anomalous pulmonary venous connection.


Triangular-shaped open mouth

A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle.


Right sided atrium to left ventricle and absent left sided atrioventricular connection


Abnormal spleen physiology

Any anomaly of the function of the spleen.


Soft skin

Subjective impression of increased softness upon palpation of the skin.


Interlobular bile duct destruction

Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts).


Abnormal CSF threonine concentration

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


Triangular shaped phalanges of the 5th toe


Anti-P/Q-type VGCC antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against P/Q-type voltage-gated calcium channels (VGCCs).


Abnormal pelvis bone ossification

An abnormality of the formation and mineralization of any bone of the bony pelvis.


Abnormal cementum morphology

Any structural anomaly of the cementum, which is the mineralized connective tissue covering the dental root. The cementum allows anchoring of the fibers of the periodontal ligament. Cementum is secreted by cementoblasts, which may be, later on, embedded in the cementum. Cementum can be acellular (along the two third coronal portion of the root) and cellular (in the apical and interradicular part of the root).


Inappropriate sinus tachycardia

Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands.


xanthinuria type I

A rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.


Hyperargininemia

An increased amount of arginine levels in the blood.


Abnormal mandible coronoid process morphology

An abnormality of a mandible coronoid process.


Slit-like opening of the exterior auditory meatus

A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit.


Elevated carcinoembryonic antigen level

An increased blood concentration of the carcinoembryonic antigen (CEA). CEA is a member of the immunoglobulin supergene family. The human CEA gene family is clustered on chromosome 19q and comprises 29 genes. CEA is highly expressed in embryonic tissue and in some cancers, and is a widely used tumor marker.


Hepatic calcification

The presence of abnormal calcium deposition in the liver.


Hypoplastic ischiopubic ramus

Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium.


Thinning of the substantia nigra pars compacta

Reduced volume of pars compacta of the substantia nigra.


Recurrent shoulder dislocation

Shoulder dislocation occurring repeated times.


hydranencephaly

A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor.


Stippling of the epiphyses of the 5th toe

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


Cervical C3/C4 vertebral fusion

Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development.


Decreased small intestinal mucosa lactase level

Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges.


Intralobar nephrogenic rest

A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls.


Aspartic aciduria

A increased concentration of aspartic acid in the urine.


Anomaly of lower limb diaphyses

A structural abnormality of a diaphysis of the leg.


Irregular epiphysis of the proximal phalanx of the 5th toe


Hypoargininemia

A decreased concentration of arginine in the blood.


Ectopic tooth eruption

A condition in which the permanent teeth, because of deficiency of growth in the jaw or segment of jaw, assume a path of eruption that intercepts a primary tooth, causes its premature loss and produces a consequent malposition of the permanent tooth.


Abnormality of the bed nucleus of stria terminalis

The stria terminalis is a slender, compact fiber bundle that connects the amygdala (amygdaloid body) with the hypothalamus and other basal forebrain regions. The bed nucleus of the stria terminalis is a limbic forebrain structure that receives heavy projections from, among other areas, the basolateral amygdala, and projects in turn to hypothalamic and brainstem target areas that mediate many of the autonomic and behavioral responses to aversive or threatening stimuli. This term refers to an anomaly of the bed nucleus.


Fetal cerebral parenchymal hemorrhage

A type of fetal intracranial hemorrhage with bleeding into the parenchyma (tissue) of the brain.


Abnormal circulating carnosine concentration

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


Large clumps of pigment irregularly distributed along hair shaft


Fractured distal phalanx of pedal digit 1

A partial or complete breakage of the distal phalanx of pedal digit 1.


Facial cyanosis

Bluish discoloration of one or more regions of the face.


Irregular distal femoral epiphysis

Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular.


Duplication of the proximal phalanx of the hallux

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


Total colonic aganglionosis

A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon.


Decreased platelet glycoprotein Ib

Decreased platelet cell membrane concentration of glycoprotein Ib.


Dilatation of the ventricular cavity

A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole.


Increased cystatin C level

A elevated concentration of cystatin C in the blood circulation.


Malignant genitourinary tract tumor

The presence of a malignant neoplasm of the genital system.


Abnormal renal artery morphology

Any structural abnormality of the renal artery.


Infection associated neutropenia

Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan.


Magnesium ammonium phosphate crystalluria

Magnesium ammonium phosphate crystals in the urine.


Stapes ankylosis

Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles).


Duplication of bones involving the upper extremities


Low frustration tolerance

The feeling of frustration can be defined as an emotional reaction that occurs when a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration, characterized by crying or temper tantrums in children, or aggressive or other undesirable behaviors.


Frontal bossing

Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.


Anti-laminin antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against a laminin. Laminins are major components of the basement membrane.


focal epithelial hyperplasia of the oral mucosa

The occurrence of multiple or unique whitish or normal in color small papules or nodules in oral cavity, especially on labial and buccal mucosa, lower lip and tongue, and less often on the upper lip, gingiva and palate.


Reduced proximal interphalangeal joint space


Generalized hypotrichosis

Reduced or lacking hair growth in a generalized distribution.


Spinning

An excessive frequency of spinning one's body.


Grayish enamel

A grey discoloration of the dental enamel.


benign muscle neoplasm

A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue.


Decreased circulating alpha-fetoprotein concentration

Concentration of alpha-fetoprotein in the blood circulation below the lower limit of normal.


penile agenesis

An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities.


Anal mucosal leukoplakia

Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation.


Ductal bile plugs

Bile thrombi that form an obstruction (plug) in a dilated bile duct.


Anti-cyclic citrullinated peptide antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cyclic citrullinated peptide.


Dysgenesis of the basal ganglia

Structural abnormality of the basal ganglia related to defective development.


Abnormality of the fascia

An abnormality of fascia.


Intrinsic hand muscle atrophy

Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles.


Limb duplication

Congenital duplication of all or part of a limb.


Multiple renal cysts

The presence of many cysts in the kidney.


Bowel irritability

Intermittent abdominal pain with diarrhea and/or constipation.


Abnormality of pulmonary circulation

A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart.


coxa vara

Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental.


Crouch gait

A gait disturbance that is characterized by excessive ankle dorsiflexion, knee and hip flexion during the stance phase.


Reduced tendon reflexes

Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.


Pseudocoarctation of the aorta

Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum.


Atretic occipital cephalocele

A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues.


Abnormal larynx morphology

Any anomaly of the structure of the larynx.


Aplasia of the 2nd metacarpal

Absence of the second long bone of the hand.


Increased circulating hypoxanthine concentration

Elevated concentration of hypoxanthine in the blood circulation.


Hypermobility of distal interphalangeal joints


Focal vocal automatism seizure

A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset.


Abnormal joint morphology

An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.


Abnormal cerebral ventricle morphology

Any structural abnormality of the cerebral ventricles.


Glomerular capillary wall duplication without cellular interposition

Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix, with or without endocapillary hypercellularity and no evidence of interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM.


Long fingers

The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand.


Increased glucose-6-phosphate dehydrogenase level in red blood cells

An increase in the level of glucose-6-phosphate dehydrogenase in red blood cells.


Increased anti-plant product IgE antibody level

Increased level of IgE antibody against antigens from plants and products derived from plants, such as wood or pollen.


Lower cranial nerve dysfunction

A functional abnormality affecting the lower cranial nerves, which include the paired 9th (glossopharyngeal), 10th (vagal), 11th (accessory) and 12th (hypoglossal) cranial nerves.


Transient hyperphenylalaninemia

A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine).


Enlarged epiphysis of the distal phalanx of the 4th finger

Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms.


Increased circulating insulin-like growth factor 1 concentration

An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation.


Elevated circulating o-phosphoserine concentration

An abnormally increased level of o-phosphoserine in the blood circulation. o-phosphoserine is a derivative of serine.


Increased urinary 11-deoxycortisol level

An abnormally elevated concentration of 11-deoxycortisol in the urine.


agammaglobulinemia

A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes.


Absent left sided atrioventricular connection

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


Fractured metatarsal bone of digit 5

A partial or complete breakage of the metatarsal bone of digit 5.


Interrupted pituitary stalk

A developmental defect characterized by a discontinuity of the pituitary stalk. The pituitary stalk, also known as the infundibulum or infundibular stalk, is the connection between the hypothalamus and the pituitary gland.


Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole

An autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by retained awareness throughout the seizure.


Contracture of the proximal interphalangeal joint of the 3rd toe

The proximal interphalangeal joint of the 3rd toe cannot be straightened actively or passively.


Abnormal vena cava morphology

An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava.


Absent neutrophil specific granules

Lack of specific granules in neutrophils.


Erythrocyte cylindruria

Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine.


Increased circulating copper concentration

An abnormally elevated concentration of copper in the blood circulation. This term refers to the total copper concentration.


Knee pain

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


cervical vertebrae, agenesis of

Agenesis of one or more vertebrae of the cervical vertebral column.


Fossa navicularis urethral stricture

A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis.


Decreased circulating purine concentration

Abnormally reduced concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring.


Abnormal antitragus morphology

An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch.


Intermittent lactic acidemia

An intermittent (discontinuous) form of lactic acidemia.


Aplasia of the ovary

Aplasia, that is failure to develop, of the ovary.


Grade V vesicoureteral reflux

Vesicoureteral reflux with massive dilation of the collecting system and severe tortuosity of the ureter.


Abnormal pulmonary vein physiology

An abnormality of the function of the pulmonary veins.


Club-shaped distal femur

An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis.


hypertrichosis cubiti-short stature syndrome

Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.


Autoamputation of foot

The spontaneous detachment of a foot from the body due to long standing pathology.


Abnormal localization of kidney

An abnormal site of the kidney.


Abnormality of von Willebrand factor

Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.


Abnormality of the protein C anticoagulant pathway

An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC.


Geophagia

The practice of eating earth or soil-like substrates such as clay or chalk.


Intralobular septal thickening

Intralobular septal thickening is a computed tomography finding of increased width of the walls (septa) within a pulmonary lobule. Secondary pulmonary lobules represent a cluster of up to 30 acini 9 supplied by a common distal pulmonary artery and bronchiole. These clustered acini are bounded by interstitial fibrous septa (interlobular septa) which outline an irregular polyhedron of varying size between 1 and 2.5 cm. Interlobular septal thickening is seen on chest radiographs as thin linear opacities at right angles to and in contact with the lateral pleural surfaces near the lung bases. In contrast, intralobular septal thickening are visible as fine linear opacities in a lobule when the intralobular interstitial tissue is abnormally thickened. When numerous, they may appear as a fine reticular pattern.


EEG with periodic complexes

Periodically occurring generalized periodic complexes.


Supraventricular tachycardia with a manifest accessory pathway on the right free wall


hypotrichosis

A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body.


Draining sinus tract in skin

A sinus tract is an abnormal channel that originates from the skin or a mucous surface to a deep-seated focus of suppuration.


Apneic episodes in infancy

Recurrent episodes of apnea occurring during infancy.


Abnormality of hepatobiliary system physiology

A functional anomaly of the hepatobiliary system


Irregular epiphysis of the proximal phalanx of the 2nd toe


Serpentine fibula

Elongated curved (S-shaped) fibulae.


Left aortic arch with retroesophageal right subclavian artery

Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body.


Colonic 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 colon.


Abnormal esterified to free carnitine ratio

Any deviation from the normal ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.


Decreased proportion of class-switched memory B cells

A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.


Positive pathergy test

With the pathergy test, a small, sterile needle is inserted into the skin of the forearm. The site of injectionis circuled and observed after one and two days. If a small red bump or pustule at the site of needle insertion occurs, the pathergy test is considered to have a positive (abnormal) result.


Duplication of proximal phalanx of toe

Partial/complete duplication of a proximal phalanx of toe.


Increased level of hexanoylglycine in urine

Elevated concentration of hexanoylglycine in the urine.


Fibrofatty replacement of right ventricular myocardium

Replacement of the myocardium of the right ventricular free wall by fat and fibrous tissue.


Metatarsal diaphyseal endosteal sclerosis

Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones.


CSF anti-NMDA receptor antibody positivity

The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor.


Abnormality of uvular muscle

An abnormality of the uvular muscle


Gluten allergy

Hypersensitivity in form of an adverse immune reaction against gluten.


Focal impaired awareness emotional seizure with fear/anxiety/panic

Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is partially or fully impaired at some point during the seizure.


Aplasia/Hypoplasia involving the sinuses

Absence or underdevelopment of a cranial sinus or sinuses.


Peg-like central prominence of distal tibial metaphyses


Small epiphysis of the distal phalanx of the hallux


Focal impaired awareness sensory seizure with cephalic sensation

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


Reduced hair sulfur content

Abnormally low amount of sulfur in hair.


Abnormal circulating beta globulin level

A deviation from the normal concentration of beta globulin. The beta globulins are a group of globular (globe-shaped) proteins in blood.


Lip discoloration

Lightening or darkening of the lips from their usual coloring.


Plasmacytosis

An abnormally increased number of plasma cells in tissues, exudates, or blood


Vestibular areflexia

Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography.


Polyalveolar lobe

An elevation of the total count of alveoli as determined by microscopic point-counting of randomly taken lung sections, not secondary to abnormalities in number, size and structure of the airways. In polyaveolar lobe, the number of alveoli is generally increased three to fivefold.


Complete duplication of the proximal phalanx of the 4th finger

Complete duplication of the fourth proximal phalanx of hand.


Decreased circulating total IgM

An abnormally decreased level of immunoglobulin M (IgM) in blood.


Macronodular adrenal hyperplasia

Adrenal hyperfunction associated with multiple bilateral adrenal nodules, usually more than one centimeter in diameter.


Increased proportion of effector memory CD4-positive, alpha-beta T cells

An abnormally elevated proportion of effector memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.


Calf muscle hypertrophy

Muscle hypertrophy affecting the calf muscles.


Repeated focal motor seizures

A type of focal motor status epilepticus characterized by repeated motor, typically clonic events repeatedly affecting the same segments of the body with spread of clonic movements through contiguous body parts unilaterally, and repeating over a sufficiently prolonged period to reach a diagnosis of status epilepticus.


Multiple bony cystic lesions

Presence of multiple cystic changes in multiple areas or multiple bones.


pyropoikilocytosis, hereditary

An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency.


Neonatal insulin-dependent diabetes mellitus


Pachygyria

Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.


Intercostal retractions

A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress.


Fetal intracranial hemorrhage

Abnormal bleeding inside the skull (cranium) of a fetus.


Abnormal interest

Any deviation from normal intensity or subject of a person's interests, which can be defined as a state of giving selective attention to something.


Proximal amyotrophy

Amyotrophy (muscular atrophy) affecting the proximal musculature.


Abnormality of hair texture

An abnormality of the texture of the hair.


Impaired ristocetin-induced platelet aggregation

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


Hypothalamic atrophy

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


Duplication of phalanx of 2nd finger

This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.


Renal tubular epithelial cell sloughing

At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast.


Abnormal proportion of CD4-positive T cells

Any abnormality in the proportion of CD4-positive T cells relative to the total number of T cells.


Patchy sclerosis of the proximal phalanx of the hallux


Bracket epiphysis of the middle phalanx of the 5th toe


Esophageal furrows

Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus).


Talipes calcaneovarus

A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus.


Increased carotid artery intimal medial thickness

An increase in the combined thickness of the intima and media of the carotid artery.


Microscopic hematuria

Microscopic hematuria detected by dipstick or microscopic examination of the urine.


Fluctuating splenomegaly

Intermittently increased size of the spleen.


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


Increased urinary 11-deoxytetrahydrocorticosterone level

An abnormally elevated concentration or amount of 11-deoxytetrahydrocorticosterone the urine.


Extension of hair growth on temples to lateral eyebrow

A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows.


Gastrointestinal telangiectasia

Telangiectasia affecting the gastrointestinal tract.


Abnormal leukocyte morphology

An abnormality of leukocytes.


Focal impaired awareness pedal automatism seizure

A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.


Abnormal glucose-6-phosphate dehydrogenase level in red blood cells

An anomaly in the level of glucose-6-phosphate dehydrogenase in red blood cells.


EEG with temporal sharp waves

EEG with sharp waves in the temporal region, i.e., sharp transient waves of a duration between 80 and 200 msec.


Reduced object sharing

An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects with parents or peers during object play. Object sharing typically develops within the first two years of life.


Tonofilament clumping

Formation of lumps of tonofilaments, which are bundles of keratin filaments. In some but not all epithelia, keratin filaments are conspicuously bundled as tonofilaments. Inside the cell they braid the nucleus, span through the cytoplasm and are attached to the cytoplasmic plaques of the typical epithelial cell-cell junctions, the desmosomes.


Enlarged metaphyses

Abnormal increase in size of one or more metaphyses.


myeloproliferative disorder, chronic, with eosinophilia


Arcuate vein medial hypertrophy

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


Abnormality of the musculature of the thorax

A disease or lesion affecting the muscles of the thorax.


Reduced proportion of mucosal-associated invariant T cells

A decreased proportion of circulating mucosal-associated invariant T (MAIT) cells relative to total T cell count.


Orthokeratotic hyperkeratosis

A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei.


Humoral immunodeficiency

A general term referring to a defect in immunity resulting from impaired antibody production.


Abnormal coronary sinus morphology

An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium.


Abnormal morphology of the vestibule of the inner ear

A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals.


Posterior atrophy of corpus callosum

The presence of atrophy (wasting) of the posterior portion of the corpus callosum.


Abnormal atrial septum morphology

An abnormality of the interatrial septum.


Duplication of distal phalanx of toe

A partial or complete duplication of one or more distal phalanx of toe.


Decreased CSF epinephrine concentration

Concentration of epinephrine in the cerebrospinal fluid below the lower limit of normal.


Agenesis of primary mandibular central incisor

Agenesis of lower primary incisor.


polyp of vocal cord

A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually unilateral and caused by excessive use of the voice.


Increased CSF phenylalanine concentration

Abnormally increased levels of phenylalanine in cerebrospinal fluid.


Short fetal humerus length

A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637).


ovarian thecoma

A stromal tumor that arises from the ovary and is characterized by the presence of cells that contain lipid and resemble theca cells. The vast majority of cases are benign.


Leptomeningeal enhancement

Contrast material enhancement of the pia mater or enhancement that extends into the subarachnoid spaces of the sulci and cisterns is leptomeningeal enhancement. Leptomeningeal enhancement is usually associated with meningitis, which may be bacterial, viral, or fungal. The primary mechanism of this enhancement is breakdown of the blood-brain barrier without angiogenesis.


Abdominal guarding

A voluntary contraction of the abdominal wall musculature to avoid pain.


Fetal intraventricular hemorrhage with periventricular hemorrhage

A type of fetal intraventricular hemorrhage that additionally includes hemorrhage in a large part of the periventricular parenchyma.


Complete duplication of the phalanges of the 3rd finger

A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.


Focal impaired awareness cognitive seizure with memory impairment

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


myelodysplastic syndrome with ring sideroblasts

Acquired idiopathic sideroblastic anemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterized by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukemia. Acquired idiopathic sideroblastic anemia is now more commonly referred to as refractory anemia with ringed sideroblasts or the acronym RARS.


Abnormal circulating neopterin concentration

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


T2 hypointense thalamus

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


thymus neoplasm

A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma.


Pseudoepiphysis of the middle phalanx of the 2nd finger

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


Lymph-node hemophagocytosis

Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages in a lymph node.


Abnormal erythrocyte physiology

Any functional abnormality of erythrocytes (red-blood cells).


triphalangeal thumb, Nonopposable

A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand.


Brisk reflexes

Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.


Increased level of hippuric acid in urine

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


Fetal hydrothorax

Accumulation of lymphatic fluid in the pleural space. This finding is usually observed by prenatal sonography. Once neonatal feeding is established and the lymphatic fluid contains chyle, transformation to chylothorax may be observed.


Focal-onset seizure evolving into bilateral convulsive status epilepticus

A type of bilateral convulsive seizure of focal onset (which could be with awareness or impaired awareness, either motor or non- motor) that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus.


Hypomethioninemia

A decreased concentration of methionine in the blood.


Abnormal hypnagogia

Abnormal transition of consciousness from wakefulness to sleep.


Sclerotic scapulae

Increased density of the bony tissue of the scapula.


Anti-asparaginyl-tRNA synthetase antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against asparaginyl-tRNA synthetase.


Elevated circulating N-carbamyl-beta-alanine concentration

An increased concentrationof N-carbamyl-beta-alanine in the blood circulation.


distal renal tubular acidosis

Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia.


Abnormal semicircular canal morphology

An abnormality of the morphology of the semicircular canal.


Bowman-space proteinaceous debris

The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space.


Digital pitting scar

Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe.


histiocytosis

A morphologic finding indicating tissue infiltration by non-neoplastic or neoplastic histiocytes.


Negative affectivity

A tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states.


chondroma

A benign well circumscribed neoplasm of hyaline cartilage arising from bone or soft tissue. It is characterized by the presence of chondrocytes.


Abnormal primary molar morphology

An abnormality of morphology of primary molar.


Osteosclerosis of the ulna

Osteosclerosis (increased density related to increased bone mass) of the ulna.


tinea profunda

A dermatophytosis that involves the deep dermal layers.


Impaired self monitoring

Impaired ability to track awareness of the effect that one's behavior has on others and how it compares with standards or expectations for behavior.


Colonic fibrinopurulent exudate

Fluid visible on the colonic surface containing fibrin, inflammatory cells, and cellular debris.


Cystic pattern on pulmonary HRCT

On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema.


Increased hepatocellular lipid droplets

An abnormal increase in the amount of intracellular lipid droplets in hepatocytes.


Decreased size of nerve terminals

A reduction in the size of nerve terminals.


Anti-topoisomerase I antibody positivity

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


Abnormal eating behavior

Abnormal eating habits involve excessive or insufficient consumption of food, or any other abnormal pattern of food consumption.


Ductus venosus agenesis

A developmental defect characterized by lack of formation of the ductus venosus (a shunt that allows oxygenated blood in the umbilical vein to bypass the liver in the fetal circulation).


Abnormal testis morphology

An anomaly of the testicle (the male gonad).


Increased urinary phosphoserine level

An increased level of phosphoserine in the urine.


arachnoid cyst

Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with hydrocephalus; headache; seizures; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115)


Pulmonary nodule

Focal rounded or ovoid opacity, not more than 3 cm in diameter. Pulmonary nodules are typically observed by chest radiography or computer tomography imaging.


Dorsal hirsutism

Abnormally increased hair growth in the lskin of the back.


Abnormal pitch

Abnormally high or low-pitched vocalization or speech.


Patchy sclerosis of the proximal phalanx of the 5th toe

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


Partial duplication of the distal phalanx of the 4th toe

Partial duplication of the distal phalanx of fourth toe.


Abnormality of the middle phalanx of the 3rd finger


congenital absence of septum pellucidum

The absence of the septum pellucidum is a rare condition that affects the structure of the brain. Specifically, a thin membrane called the septum pellucidum is missing from its normal position in the middle of the brain. When it is missing, symptoms may include learning difficulties, behavioral changes, seizures, and changes in vision. Absence of the septum pellucidum is not typically seen as an isolated finding. Instead, absence of the septum pellucidum is associated with other conditions such as septo-optic dysplasia. Treatment options for the condition vary depending on the underlying disorder. Diagnosis of absence of the septum pellucidum can be made through imaging such as an MRI. Symptoms of absence of the septum pellucidum typically present during childhood, but a diagnosis can also be made before an individual is born (prenatally). If an individual is found to be missing the septum pellucidum, a search for an underlying disorder should be made.


Abnormality of levator veli palatini muscle

An abnormality of a levator veli palatini.


focal segmental glomerulosclerosis 1

Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene.


Posterior fossa cyst at the fourth ventricle


Elevated circulating apolipoprotein A-IV concentration

An increased concentration in blood of apolipoprotein A-IV, a major component of HDL and chylomicrons that has a role in VLDL secretion and catabolism and is required for efficient activation of lipoprotein lipase by ApoC-II.


Mesangial matrix expansion

Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas.


Spinal stenosis with reduced interpedicular distance

An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging).


Abnormality of muscle size

Abnormalities of the overall muscle bulk based on clinical observation.


Congenital malformation of the great arteries

Defect or defects of the morphogenesis of the aorta and pulmonary arteries.


Comedonal acne

A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules.


Elevated circulating growth hormone-releasing hormone concentration

Concentration of growth hormone-releasing hormone above the upper limit of normal in the blood circulation.


prolapse of urethra

Prolapse of the urethral mucosa from the exterior urethral opening.


Sagittal craniosynostosis

A kind of craniosynostosis affecting the sagittal suture.


nervous system cancer

A primary or metastatic malignant neoplasm involving the nervous system.


Anomalous insertion of papillary muscle directly into anterior mitral leaflet

A congenital malformation in which one or both of the papillary muscles (posteromedial or anterolateral) insert directly (that is, without interpositioned chordae tendineae) into the anterior mitral leaflet.


Hypercapnia in cord blood

Abnormally elevated blood carbon dioxide (CO2) level in the cord blood.


Abnormal nasal cartilage morphology

A morphological anomaly of the nasal cartilage.


Triangular epiphyses of the 5th finger

A triangular appearance of the epiphyses of the 5th finger of the hand.


Abnormal upper limb metaphysis morphology

An anomaly of one or more metaphyses of the arms.


tooth ankylosis

Dental ankylosis is a rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement.


Buttock pain

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the buttock (round fleshy area at the lower rear area of a human trunk).


Cervical motion tenderness

Pain that is elicited by moving the uterine cervix. This finding can be ascertained by pelvic exam. Cervical motion tenderness is a gynecological exam finding that could be indicative of peritoneal infection.


Abnormal umbilicus morphology

An abnormality of the structure or appearance of the umbilicus.


Irregular epiphysis of the distal phalanx of the 4th finger

Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger.


Absence of stomach bubble on fetal sonography

By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation.


Anti-asialoglycoprotein receptor antibody positivity

Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation.


Bracket epiphysis of the proximal phalanx of the 5th toe


Persistent left superior vena cava

A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress.


Tongue neurofibroma

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


Hypohistidinemia

A decreased amount of histidine in the blood.


Self-neglect

Neglecting one's own needs and well-being.


Bulbous tooth

A tooth crown with a marked cervical area constriction.


Nodular-random pattern on pulmonary HRCT

A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern.


Double inlet to single ventricle with common atrioventricular orifice


Eosinophilic microabscess formation in the esophagus

The formation of small localized collection of eosinophiles (an eosinophilic microabscess) in the esophagus. Usually clusters of greater than or equal to 4 eosinophils are seen, that appear as exudates or white spots or white plaques.


Lower limb amyotrophy

Muscular atrophy affecting the lower limb.


Abnormality of the gingiva

Any abnormality of the gingiva (also known as gums).


Abnormal response to glucagon stimulation test

An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH).


Recurrent joint dislocation

Dislocation of a given joint repeated times.


Curved proximal phalanx of the 2nd finger

Curved appearance of the proximal phalanx of the 2nd finger.


Abnormal postural reflex

Anomaly of the physiological response to maintain the body's posture when movement and position is altered.


craniofacial dystonia

A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck.


Hyperlysinuria

An increased concentration of lysine in the urine.


acromial dimples

A subtype of skin dimples occurring in the shoulder region.


Abnormal morphology of erythroid progenitor cell

Abnormal form of the progenitor cells committed to the erythroid lineage.


Abnormal aortic valve morphology

Any abnormality of the aortic valve.


pulmonary subvalvular stenosis

The obstruction of the right ventricular outflow tract that originates within the body of the right ventricle, that exists at the time of birth; it often occurs in association with other intracardiac anomalies.


Decreased heart rate variability

Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.


Platelet anisocytosis

Abnormally increased variability in the size of platelets.


Sclerosis of hand bone

Osteosclerosis affecting one or more bones of the hand.


Abnormal CSF serine concentration

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


Abnormality of the epiphysis of the distal phalanx of the 3rd finger


Pseudoepiphyses of the 5th finger

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


Tubular microcystic change

Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border.


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

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


Bracket epiphysis of the middle phalanx of the 4th toe


Contracture of the metatarsophalangeal joint of the 3rd toe

The joint between the third metatarsal and the proximal phalanx of the third toe cannot be straightened actively or passively.


Tapered tooth

A tooth with a crown that narrows from proximal toward the incisal edge. Tapering of teeth typically involves incisors.


Aplasia/Hypoplasia of the 3rd finger

A small/hypoplastic or absent/aplastic 3rd (middle) finger.


Type VI atherosclerotic lesion

Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes.


Abnormal circulating threonine concentration

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


Increased extraneuronal autofluorescent lipopigment

Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.


Night gasping

Waking up at night gasping for breath.


Freezing of gait

Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk.


Decreased CSF glutamate concentration

Abnormally decreased levels of glutamic acid in cerebrospinal fluid.


EEG with generalized epileptiform discharges

EEG discharges recorded on the entire scalp typically seen in persons with epilepsy.


Long uvula

Increased length of the uvula.


Elevated circulating medium-chain acylcarnitine concentration

Concentration of medium-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. Medium-chain acylcarnitines have between six and twelve carbon atoms in the acyl-chain (C6-C12),


Limitation of movement at ankles

An abnormal limitation of the mobility of the ankle joint.


Recurrent fever

Periodic (episodic or recurrent) bouts of fever.


Absence or underdevelopment of the nasopharyngeal adenoids.


Decreased platelet glycoprotein IIb-IIIa

Decreased cell membrane concentration of glycoprotein IIb-IIIa.


Abnormal arcuate artery morphology

Anomalous structure of the arc-shaped arteries located at the border of the renal cortex and renal medulla.


Vestibular hypofunction

A general descriptive term that describes impaired functioning of the vestibular apparatus that leads to manifestations such as dizziness or postural imbalance


Thin ear helix

Decreased thickness of the helix of the ear.


Duplication of the proximal phalanx of the 5th finger

Partial or complete duplication of the fifth proximal phalanx of hand.


Dysplastic distal thumb phalanges with a central hole


Focal aware sensory seizure with olfactory features

Seizures characterized by olfactory phenomena at onset - usually an odor, which is often unpleasant.


Renal medullary hyperechogenicity

Increased echogenecity of the medullary region of the kidney.


Acute demyelinating polyneuropathy

Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration.


Abnormal glomerular visceral epithelial cell morphology

Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary.


Increased CSF threonine concentration

Abnormally increased levels of threonine in cerebrospinal fluid.


Fractured shoulder bone

A partial or complete breakage of a shoulder bone.


Abnormal circulating nucleobase concentration

An abnormality of a nucleobase metabolic process.


Periosteal new bone of humeral diaphysis


Abnormal right atrium morphology

Any structural abnormality of the right atrium.


cerebral palsy

A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain.


Singsong Intonation

A speech pattern characterized by abnormal fluctuations in the pitch of the voice.


Pseudoepiphysis of the proximal phalanx of the 3rd toe

A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the third toe.


Carcinoid tumor of the pancreas

A carcinoid tumor of the pancreas (CTP) is a rare neuroendocrine tumor arising from the serotonin-secreting cells (enterochromaffin or Kultscitsky's cells).


Enlargement of the distal femoral epiphysis

An abnormal enlargement of the distal epiphysis of the femur.


split hand-foot malformation

Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported.


Decreased HDL3b concentration

A reduction below the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.


Short distal phalanx of the 2nd toe

Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia.


Loss of Purkinje cells in the cerebellar vermis


Abnormal cerebral artery morphology

Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery.


Heavy-chain paraproteinemia

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


Abnormal circulating branched chain amino acid concentration

Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation.


Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body asymmetrically.


Abnormal elasticity of skin

Any abnormal increase or reduction in skin elasticity.


Reduced epidermal keratin 10 protein expression

Amount of keratin 10 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.


diffuse alveolar hemorrhage

A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen.


Reduced epidermal keratin 5 protein expression

Amount of keratin 5 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.


Fractured head of femur

A partial or complete breakage of the head of femur.


megalodactyly

A condition in which a finger or toe is larger than normal size secondary to excessive growth of the anatomical structures or abnormal accumulation of substances.


Cranial hyperostosis

Excessive growth of the bones of cranium, i.e., of the skull.


Dialeptic seizure

A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event.


Abnormality of digestive system physiology

A functional anomaly of the digestive system.


nose, anomalous shape of

Increased volume and globular shape of the anteroinferior aspect of the nose.


Arcuate artery endoarterial lymphocyte hypercellularity

A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of arcuate artery.


Elevated circulating 3-hydroxypalmitoleylcarnitine concentration

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


hereditary elliptocytosis

Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.


Delayed Echolalia

Repetition of borrowed words or phrases outside of the context in which they were originally heard. E.g., scripting from TV shows or movies.


Abnormality of intracranial pressure

A deviation from the norm of the intracranial pressure.


Anti-Gephyrin antibody

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


Fractured epiphysis of second metacarpal bone

A partial or complete breakage of the epiphysis of second metacarpal bone.


Interlobular vein intima/media coagulative necrosis

A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.


Femoral aplasia

Failure of the femur to develop.


Abnormal circulating lysine concentration

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


Generalized non-motor (absence) seizure

A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.


Irregular epiphysis of the proximal phalanx of the 4th finger

Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger.


Congenital pyloric atresia

Congenital atresia of the pylorus.


Chronic decreased circulating IgG1

A lasting decrease of immunoglobulin G1 (IgG1) in the blood.


Venom-induced anaphylaxis

A form of anaphylaxis that is triggered by exposure to venom.


Glomerular endotheliosis

Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen.


Abnormality thigh musculature morphology


Subepidermal blistering

A type of blistering in which the lesions are located beneath the epidermis.


pituicytoma

An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido.


Fractured distal phalanx of manual digit 4

A partial or complete breakage of the distal phalanx of manual digit 4.


Increased circulating beta-C-terminal telopeptide concentration

A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation.


Dorsocervical fat pad

An area of fat accumulation at the back of the neck in the form of a hump.


acanthosis nigricans

A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy.


Absent epiphysis of the proximal phalanx of the 2nd finger


Abnormality of the face

An abnormality of the face.


Anti-GD1a antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a.


Complete duplication of the phalanges of the 5th finger

A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.


sweat gland disorder

A disease involving the sweat gland.


Trapezius muscle aplasia

A developmental defect characterized by lack of formation of the trapezius muscle, which is broad superficial muscle that extends from the posterior neck to the posterior part of the trunk (thorax).


Bullet-shaped distal phalanx of the 4th finger

Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected.


Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration

The concentration of N-carbamyl-beta-aminoisobutyric acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Abnormal cortical radial artery intima/media morphology

Any structural anomaly of the inner or middle layer of the cortical radial arteries (also known as interlobular arteries) of the kidney.


Aplasia/Hypoplasia of the pyramidal tract


Luse bodies

Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands.


Pseudo-chilblain

Acral areas of erythema with vesicles or pustules. The lesions resemble chilblains and have purpuric areas, affecting hands and feet.


Barking cough

A cough with a characteristic sound that has been compared to a seal's bark.


Increased circulating IgA level

An abnormally increased level of immunoglobulin A in blood.


Glomerular fibrinoid necrosis

Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis.


Dilated fourth ventricle

An abnormal dilatation of the fourth cerebral ventricle.


Abnormal phytanic acid:pristanic acid ratio

Any deviation from the normal ratio of blood phytanic acid concentration to pristanic acid concentration.


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neurexin-3alpha.


U wave inversion

Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves.


preaxial hallucal polydactyly

Duplication of all or part of the first ray.


Translamellar aortic medial fibrosis

A type of aortic medial fibrosis in which the increase in collagen is more scar-like, altering the arrangement of the lamellar units.


Comedo

A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle).


Hemosiderin-laden macrophages in bronchoalveolar fluid

Hemosiderin-laden macrophages (HLM) in bronchoalveolar lavage (BAL) fluid were originally known as adiagnostic biomarker of alveolar hemorrhage, but have also been observed in idiopathic pulmonary fibrosis (IPF) with histopathological pattern of usual interstitial pneumonia (UIP).


Disproportionate short-trunk short stature

A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.


Pelizeaus-Merzbacher spectrum disorder

An X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD.


Glomerular C3 deposition

The presence of complement 3 deposits in the glomerulus.


Absent pubertal growth spurt

The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur.


Abnormal bowel sounds

An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis.


Depressed nasal ridge

Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.


Increased serine family amino acid in urine

An increased level of a serine family amino acid in the urine.


Abnormal circulating IgE level

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


Fetal bowel dilatation

Fetal bowel dilatation is characterized by fluid-filled intestinal loops which measure at least fifteen millimeters long or seven millimeters in diameter. Ultrasonographic image of dilated fetal bowel is a sign of intestinal mechanical or functional obstruction and its prevalence will depend on the underlying condition: bowel atresia or stenosis, malrotation with volvulus, meconium ileus, total colonic aganglionosis, and meconium plug syndrome. The etiology of fetal bowel dilatation is a difficult prenatal diagnosis since ultrasound has limited accuracy for bowel evaluation.


Pallor of dorsal columns of the spinal cord

An abnormally pale appearance of the dorsal portion of the gray substance of the spinal cord. This finding can be observed by histological examination.


Cutaneous finger syndactyly

A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers.


Decreased male libido

Reduced desire for sexual activity on the part of a male.


Type I atherosclerotic lesion

Type I lesions represent the very initial changes and are recognized as an increase in the number of intimal macrophages and the appearance of macrophages filled with lipid droplets (foam cells).


Abnormal pancreatic acinus morphology

Structural anomal of pancreatic acinus.


Decreased circulating beta-2-microglobulin level

Reduced concentration of beta-2-microglobulin in the blood.


Abnormal alveolar volume

Alveolar volume (VA) is a volume accessible during 10-second breath-hold, measured during a single breath manouver. VA is calculated by knowing the fractional concentration of the tracer gas (eg helium) and the volume of the gas inhaled. VA = Vi*(Fi tracer/Fa tracer). In this equation, Vi = inspired volume of tracer gas, Fi tracer= inspired fraction of tracer gas, Fa tracer = alveolar (exhaled) fraction of tracer gas.


Short phalanx of the 2nd toe

Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia.


Effort-induced polymorphic ventricular tachycardia

Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration.


Pancreatic dysplasia

The presence of developmental dysplasia of the pancreas.


Tufted hairs

The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice.


Abnormal circulating homocysteine concentration

An abnormality of a homocysteine metabolic process.


perinephritis

Inflammation of the connective and adipose tissues surrounding the kidney.


Saccular descending thoracic aortic aneurysm

An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall


Renal tubular viral cytopathic changes

Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells.


Elevated CSF argininosuccinic acid concentration

Concentration of argininosuccinic acid in the cerebrospinal fluid (CSF) above the upper limit of normal.


Abnormal breast physiology

Any anomaly of the function of the breast.


Increased glutamine family amino acid level in urine

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


Limited elbow extension

Limited ability to straighten the arm at the elbow joint.


Dysdiadochokinesis

A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.


Chronic decreased circulating total IgG

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


Metacarpophalangeal thumb joint contracture

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


Metaphyseal dappling

The presence of spots or rounded patches of abnormally increased density of metaphyseal bone.


Abnormal posterior semicircular canal morphology


Inspiratory crackles

Crackles that are heard during the inspiratory phase.


Finger joint contracture

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


Decreased CSF alanine concentration

Abnormally decreased levels of alanine in cerebrospinal fluid.


Cerebellar edema

Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum.