Cerebral cortical hemiatrophy

description: Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle.


EEG with occipital slowing

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

description: Slowing in occipital areas of the scalp EEG.


Focal emotional seizure with crying

description: Focal emotional seizure with crying (dacrystic) is characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present.


Abnormal hairshaft morphology

description: An abnormal structure of the hairshaft, i.e., of the nongrowing portion of a hair that protrudes from the skin.


name: Absent epiphysis of the distal phalanx of the 3rd finger

description: Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger.


name: Osteolytic defects of the proximal phalanx of the 3rd toe


Limitation of joint mobility

description: A reduction in the freedom of movement of one or more joints.


Wide capital femoral epiphyses

description: Abnormally wide morphology of the proximal epiphysis of the femur.


visceral heterotaxy

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

description: A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton.


name: Stippling of the epiphysis of the middle phalanx of the 3rd finger

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger.


Reduced isohemagglutinin level

description: Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).


Acute rhabdomyolysis

description: An acute form of rhabdomyolysis.


name: Swelling of proximal interphalangeal joints


Hypoglycinemia

description: An abnormally reduced concentration of glycine in the blood.


name: Aplasia/Hypoplasia of the middle phalanx of the 3rd finger


name: Elevated urine phenylpropionylglycine level

description: Level of phenylpropionylglycine in urine above upper limit of normal.


Triceps areflexia

description: Inability to elicit triceps tendon reflex.


name: Abnormality of the epiphysis of the proximal phalanx of the thumb

description: This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


name: Partial duplication of phalanx of the 2nd toe

description: Partial duplication of a phalanx of second toe.


name: Bullet-shaped middle phalanx of the 4th finger

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


name: Single ventricle of indeterminate morphology


name: Decreased circulating heparan sulfate level

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


pituitary gland disorder

description: A disease involving the pituitary gland.


Increased urinary cysteine level

description: An increased concentration of cysteine in the urine.


Brainstem dysplasia

description: A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord.


name: Perivascular pre-capillary pulmonary artery inflammation

description: Inflammatory cell infiltration surrounding precapillary pulmonary arteries (arterioles; 20-70 micrometer).


cold urticaria

description: Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cause of cold urticaria is poorly understood in most cases. Rarely, it may be associated with an underlying blood condition or infectious disease. Treatment generally consists of patient education, avoiding exposures that may trigger a reaction, and/or medications.


unilateral polymicrogyria

description: Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria.


Coronal hypospadias

description: A mild form of hypospadias in which the urethra opens just under the corona glandis.


Decreased skull ossification

description: A reduction in the magnitude or amount of ossification of the skull.


Abnormal serum estradiol

description: A deviation from normal concentrations of estradiol in the circulation.


Increased CSF xylitol concentration

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


Oligoclonal T cell expansion

description: The presence of a population of T cells with a restricted T cell receptor (TCR) repertoire derived from a limited number of TCR clones.


Renal potassium wasting

description: High urine potassium in the presence of hypokalemia.


patella aplasia/hypoplasia

description: Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.


Middle mediastinal mass

description: A type of inferior mediastinal mass that is located withinthe pericardium.


name: Irregular ossification of the humeral epiphyses


name: Decreased serum testosterone concentration


Elevated plasma pyrophosphate

description: An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.


name: Decreased level of platelet-activating factor


4-5 toe cutaneous syndactyly

description: A soft tissue continuity in the anteroposterior axis between the toes 4 and 5.


name: Elevated urinary 2-hydroxyisocaproic acid level

description: The amount of 2-hydroxyisocaproic acid in the urine, normalized for urine concentration, is above the upper limit of normal.


Excessive cerumen

description: An increased quantity of earwax.


Patchy sclerosis of hallux phalanx

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


Upper limb hypertonia

description: Increased muscle tone observed in the arms of the affected person.


EEG with central focal spike waves

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


Progressive hypotrichosis

description: Progressively reduced or lacking hair growth.


Metatarsus adductus

description: The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.


Multiple suture craniosynostosis

description: Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified.


sarcosinemia

description: Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency.


Silent hypoxemia

description: Abnormally low blood oxygen level without the presence of dyspnea.


Tarsal sclerosis

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


name: Elevated circulating amyloid A concentration

description: The concentration of serum amyloid A in the blood circulation is above the upper limit of normal.


Cochlear nerve hypoplasia

description: A developmental defect characterized by underdevelopment of the cochlear nerve.


name: Inability to walk by childhood/adolescence


Positive infectious agent test

description: Any kind of test for an infectious agent in a specimen positive.


Scapulohumeral synostosis

description: Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint.


Idiosyncratic gesture

description: When one uses gestures that are unique to them and have no apparent meaning to others.


vulvar neoplasm

description: A benign or malignant neoplasm that affects the vulva. Representative examples include Bartholin gland adenoma, vulvar nodular hidradenoma, vulvar carcinoma, and vulvar melanoma.


Post-capillary pulmonary hypertension

description: Post-capillary pulmonary hypertension is a hemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units).


Biceps hypoplasia

description: Underdevelopment of the biceps muscle.


jugulotympanic paraganglioma

description: A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the base of the skull and middle ear.


Cutaneous syndactyly

description: A soft tissue continuity in the A/P axis between two digits 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 digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits.


Premature arteriosclerosis

description: Arteriosclerosis occurring at an age that is younger than usual.


Duplicated collecting system

description: A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice.


Rokitansky-Aschoff gallbladder sinuses

description: Localized or diffuse epithelial proliferation with hypertrophy of the muscularis layer and invagination of the mucosa through the muscularis, forming intramural diverticula (i.e., small, bulging pouches in the wall of the gallbladder).


Decreased number of sweat glands

description: The presence of fewer than normal sweat glands.


Crossed fused renal ectopia

description: A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys.


Uncombable hair

description: Hair that is disorderly, stands out from the scalp, and cannot be combed flat.


Premature thelarche

description: Premature development of the breasts.


name: Perivascular myocardial immune cell infiltration

description: An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels.


Renal corticomedullary cysts

description: The presence of multiple cysts at the border between the renal cortex and medulla.


Abnormal CSF albumin concentration

description: Any deviation from the normal concentration of albumin in the cerebrospinal fluid.


cortical deafness

description: An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact.


name: Aplasia/Hypoplasia of the 3rd metacarpal

description: Aplasia or Hypoplasia affecting the 3rd metacarpal.


Monoclonal elevation of IgG kappa chain

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


Visceral epithelial cell capping

description: Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus.


name: Focal impaired awareness bilateral motor seizure

description: A focal bilateral motor seizure characterized by impairment of awareness at some point during the seizure.


Ectopic anus

description: Abnormal displacement or malposition of the anus.


Progressive macrocephaly

description: The progressive development of an abnormally large skull.


Slender metacarpals

description: Decreased width of the metacarpal bones (that is, reduced diameter).


Disproportionate short stature

description: A kind of short stature in which different regions of the body are shortened to differing extents.


name: Focal impaired awareness hemifacial clonic seizure

description: Focal seizure characterized at onset by clonic movements affecting half of the face with impairment of awareness in which awareness is impaired at some point during the seizure.


name: Elevated circulating aconitic acid concentration

description: Concentration of aconitic acid in the blood circulation above the upper limit of normal.


Increased circulating IgG subclass

description: An elevation of circulating IgG level predominantly related to an elevation of one of the four IgG subclasses.


name: Anti-mitochondrial M2 antibody positivity

description: The presence of M2 anti-mitochondrial antibody (immunoglobulins) in the serum.


Focal cognitive seizure with illusion

description: A focal cognitive seizure characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena as the initial semiological manifestation.


Aplasia/Hypoplasia of the testes

description: Absence or underdevelopment of the testes.


Addictive amphetamine use

description: Addiction to amphetamine or dextroamphetamine is a serious concern.


amastia

description: Absence of one or both mammary glands.


detrusor sphincter dyssynergia

description: A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation.


Abnormality of the posterior hairline

description: An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair.


Hepatic artery hyperplasia

description: Abnormal increase in size of the hepatic arteries.


Cross bite

description: Lingual occlusion of buccal cusps and/or incisal edge of maxillary teeth to the buccal cusps and/or incisal edge of mandibular teeth.


Fibrotic muscularis propria

description: The presence of excessive fibrous connective tissue in the muscularis propria of the intestine. Fibrosis is a reparative or reactive process.


name: Severely reduced left ventricular ejection fraction

description: A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent.


Abnormal hand epiphysis morphology

description: Any abnormality of the epiphyses of the phalanges or metacarpal bones.


Dumbbell-shaped long bone

description: An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses.


Increased helper T cell proportion

description: Increased proportion of helper T cells relative to the total number of T cells.


name: Increased urinary N-acetylglucosamine-rich oligosaccharide level

description: Presence of N-acetylglucosamine-rich oligosaccharides in the urine.


Palmoplantar cutis gyrata

description: Cutis gyrata of palms and soles.


Poikiloderma

description: Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.


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


name: Abnormal morphology of left ventricular trabeculae

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


name: Self-mutilation of tongue and lips due to involuntary movements

description: Uncontrolled movements result in tissue damage to the tongue and lips.


name: Impaired ability to form peer relationships

description: Difficulty to establish relations with others in a comparable social group (peers) that may be manifested in pehnomena such as not being able to initiative a conversation, undersand social cues, or to discuss shared interests. This feature is associated with poor integration within a community or group.


Abnormal fetal heart outflow tract

description: A prenatal anomaly of the outflow tract. Fetal ultrasound may not always be able to easily and accurately describe the outflow anomaly, but can detect abnormal anatomy. Often, follow up with a fetal echo is recommended, but fetal ultrasound is limited.


Sertoli cell hyperplasia

description: Abnormal increase in the number of Sertoli cells in the testis.


Posterior pituitary hypoplasia

description: Underdevelopment of the neurohypophysis.


Abnormal P wave

description: Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria.


name: Osteolytic defects of the middle phalanges of the hand


Delayed ability to walk with support

description: A failure to achieve the ability to walk with support (cruise) at an appropriate developmental stage.


Multifocal seizures

description: Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations).


Dermal microfilaria

description: Presence of filariae in the skin.


Aortic tortuosity

description: Abnormal tortuous (i.e., twisted) form of the aorta.


name: Sclerosis of the distal phalanx of the 2nd toe


Reduced brain creatine level by MRS

description: A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).


urethra neoplasm

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


coronary microvascular disorder

description: A disorder affecting the smallest coronary arteries. Causes include atherosclerosis and arterial spasm. Chest pain is a frequently observed symptom.


Unusual skin infection

description: A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection.


T-wave alternans

description: A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG.


Neurodevelopmental abnormality

description: A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities.


Mesangial hyaline deposition

description: Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material.


athetoid cerebral palsy

description: A subtype of cerebral palsy characterized by involuntary, purposeless writhing movements which affect the hands, feet, arms, and legs; the face and tongue may be affected as well, leading to involuntary grimacing, drooling, dysarthria and difficulty eating.


Fibrin casts

description: A type of airway casts that consist of plasma components and inflammatory cells.


name: Abnormal circulating coenzyme concentration

description: Concentration of a coenzyme (an organic molecule that binds to the active sites of an enzyme to promote the catalysis of a reaction) is above or below the limits of normal.


Abnormal blood phosphate concentration

description: An abnormality of phosphate homeostasis or concentration in the body.


sacrococcygeal teratoma

description: A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns.


Increased incisura length

description: The length of the incisura from the upper to lower border is greater than that observed in the average population.


Aggression towards caregivers

description: Aggression that is directed towards caregivers.


name: Abnormal morphology of the proximal phalanx of the hallux

description: An abnormal shape or form of the proximal phalanx of the big toe.


Abnormal jaw morphology

description: A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla.


Extrapulmonary lobar sequestration

description: A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree.


Esophageal fibrosis

description: Fibrosis located in the subepithelial portion of the esophagus. Fibrosisis is defined by the overgrowth, hardening, and/or scarring of various tissues and is attributed to excess deposition of extracellular matrix components including collagen.


name: Elevated circulating Angiotensin-converting enzyme concentration

description: Concentration of angiotensin-converting enzyme (ACE) in the blood circulation above the upper limit of normal.


name: Elevated methylhex-dienedioic level by MRS

description: An increase in the level of 3-methylhex-2,4-dienedioic acid or 3-methylhex-3,4-dienedioic acid in the brain identified by magnetic resonance spectroscopy (MRS).


Elevated urinary beta-alanine level

description: The amount of beta alanine in the urine, when normalized for urine concentration, is above the upper limit of normal.


Poor fine motor coordination

description: An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes.


Global systolic dysfunction

description: A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly.


juvenile myelomonocytic leukemia

description: A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)


name: Small epiphysis of the middle phalanx of the 5th toe


Generalized atonic seizure

description: Generalized atonic seizure is a type of generalized motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1-2 s, involving head, trunk, jaw, or limb musculature.


Spinal hemangioblastoma

description: A hemangioblastoma of the spinal cord.


name: Anti-epidermal transglutaminase antibody positivity

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


Onychogryposis of fingernail

description: Thickened fingernails.


Anti-U11/U12 RNP antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U11/U12 RNP.


Monoclonal elevation of intact IgG

description: A type of monoclonal elevation of IgG in which the involved immunoglobulin has a normal structure with a light and heavy chain.


name: Abnormal enzyme concentration or activity

description: Concentration or activity of an enzyme is above or below the limits of normal.


tracheal stenosis

description: Narrowing of the lumen of the trachea.


Dilatation of an abdominal artery

description: Abnormal outpouching or sac-like dilatation in an artery that originates from the abdominal aorta.


Hoffmann sign

description: A Hoffmann test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test.


Maternal first trimester fever

description: The occurence of fever in a mother during the first trimester of pregnancy.


Orotic acid crystalluria

description: Formation of crystals owing to an increased concentration of orotic acid in the urine.


EEG with frontal focal spikes

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


Focal aware manual automatism seizure

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


Multiple trichilemmomata

description: Presence of multiple trichilemmomata, a benign tumor originating from the outer root sheath of the hair follicle.


Fractured proximal phalanx of digit 3

description: A partial or complete breakage of the proximal phalanx of digit 3.


Abnormal femoral epiphysis morphology

description: An anomaly of a growth plate of a femur.


Avoidance of emotional intimacy

description: An atypically high tendency to avoid interpersonal exchanges characterizing by sharing of personal feelings, expressions of understanding, affirmation, and demonstrations of caring.


Vertebral artery hypoplasia

description: Underdevelopment of the vertebral artery.


Hypoplasia of the semicircular canal

description: Underdevelopment of the semicircular canal.


name: 1-5 finger complete cutaneous syndactyly


Gemination

description: The development of two teeth from a single tooth bud, leading to a larger fused tooth.


Anti-RuvBL1/2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against RuvBL1/2.


Squamosal suture synostosis

description: Premature closure of the squamosal suture, which is one of the lateral minor skull sutures, separating the parietal and squamous temporal bones.


Thumb adduction contracture

description: A type of thumb contracture characterized by a chronic reduction in active and passive ability of the metacarpal-phalangeal and/or interphalangeal joints of the thumb to bring from medial side to neutral position, where the neutral position for the thumb is when the distal and proximal segments of the thumb joint are in linear alignment.


name: Ivory epiphysis of the proximal phalanx of the thumb

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


name: Abnormal von Willebrand factor multimer distribution

description: Deviation from the normal von Willebrand factor multimer pattern.


name: Partial fusion of proximal row of carpal bones


Duplicated clitoris

description: Supernumerary clitoris.


name: Abnormal urinary non-proteinogenic amino acid level

description: Any deviation from the normal amount in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.


Compensatory scoliosis

description: A scoliosis which is the results of a difference in leg length (which might be due to hemihypertrophy or hemihypotrophy of a leg) and the resulting tilting of the pelvis. If untreated this will lead to the development of scoliosis over time.


name: Increased circulating prealbumin concentration

description: An elevation above the normal concentration of prealbumin in the blood circulation.


Focal aware motor seizure with version

description: A focal motor seizure with version characterized by retained awareness throughout the seizure.


Necrotizing pulmonary granulomatosis

description: A granuloma that is associated with necrotic changes. Caseation necrosis is defined as a region in granulomas with eosinophilic, granular and cheese-like cellular debris with necrosis. The word caseous itself means pertaining or related to cheese, and comes from the Latin word caseus, meaning cheese.


Mesangial amyloid deposition

description: Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass.


Bleeding requiring red cell transfusion

description: Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4).


Abnormality of stem of antihelix

description: An abnormality of the stem of the antihelix, which is the part below the bifurcation of the antihelix into the inferior and superior crura.


name: Sensory hyposensitivity unexplained by sensory deficit

description: Increased tolerance to sensory stimuli due to diminished sensory ability.


name: Decreased proportion of CD4-positive helper T cells

description: A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count.


epilepsia partialis continua

description: A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. electroencephalography demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the cerebral cortex or from subcortical structures (e.g., brain stem; basal ganglia). This condition is associated with Russian Spring and Summer encephalitis (see encephalitis, tick borne); Rasmussen syndrome (see encephalitis); multiple sclerosis; diabetes mellitus; brain neoplasms; and cerebrovascular disorders. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)


Fabry disease

description: Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.


name: Elevated circulating alpha-aminobutyric acid concentration

description: An abnormally increased level of alpa-aminobutyric acid in the blood circulation. Alpha-aminobutyric acid alpha-amino acid that is butyric acid bearing a single amino substituent located at position 2.


Intestinal hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, located in the intestines, which includes the bowel.


Abnormal hip joint morphology

description: An abnormality of the hip joint.


Decreased fibular diameter

description: Reduced width of the cross sectional diameter of the fibula.


46,XX disorder of sex development

description: Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures.


Congenital absence of foreskin

description: Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis.


name: Stippled calcification proximal humeral epiphyses


Ossifying fibroma of the jaw

description: A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed.


name: Bullet-shaped proximal phalanx of the 3rd toe

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


name: Medullary peritubular capillary intraluminal thrombi

description: Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the medulla of the kidney.


name: Metaphyseal cupping of proximal phalanges

description: Metaphyseal cupping affecting the proximal phalanges.


spondylolisthesis

description: A condition in which there is forward displacement of a vertebral bone over the on below it.


Type I truncus arteriosus

description: Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries.


Peripheral axonal distension

description: An abnormal histological finding characterized by an increase in the cross-section area of peripheral nerve axons (up to 20-25 micrometers in diameter).


name: Elevated circulating branched chain amino acid concentration

description: Concentration of a branched chain amino acid in the blood above the upper limit of normal.


Multicentric femoral head ossification

description: There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers.


Anticipatory anxiety

description: A state characterized by future-oriented worry, accompanied by negative affect and autonomic arousal.


name: Hypoplasia of maxilla relative to mandible

description: Abnormally small dimension of the maxilla (upper jaw) relative to the mandible (lower jaw).


name: Partial absence of the septum pellucidum

description: Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain.


Open comedo

description: A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black.


Abnormal intrarenal vein morphology

description: Abnormal structure of a vein located inside the kidney parenchyma.


Metaphyseal sclerosis

description: Abnormally increased density of metaphyseal bone.


periodic limb movement disorder

description: Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state of relative sleep deprivation which manifests as excessive daytime hypersomnolence. The movements are characterized by repetitive contractions of the tibialis anterior muscle, extension of the toe, and intermittent flexion of the hip, knee and ankle. (Adams et al., Principles of Neurology, 6th ed, p387)


Meat allergen allergy

description: Hypersensitivity in form of an adverse immune reaction against allergens contained in meat products.


Quelprud nodule

description: Small cartilaginous prominence on the posterior concha.


name: Abnormal ossification involving the femoral head and neck


Brachyturricephaly

description: Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region.


Large pelvis bone

description: The presence of an abnormally large pelvis.


Generalized tonic seizure

description: A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.


Intestinal hypoplasia

description: Developmental hypoplasia of the intestine.


name: Abnormality of the distal humeral epiphysis

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


neuroblastoma

description: Neuroblastoma (NB) is the most common solid, extracranial childhood tumor. It is an aggressive pediatric cancer that originates from neural crest tissues of the sympathetic nervous system.


name: Symphalangism affecting the distal phalanx of the 5th toe


Tracheal atresia

description: A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking.


pelvic organ prolapse

description: Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, dyspareunia; urinary stress incontinence; and fecal incontinence.


EEG with temporal sharp slow waves

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


Decreased cardiac index

description: A reduced cardiac index, defined as cardiac output divided by body surface area.


Cervical C5/C6 vertebrae fusion

description: Fusion of the C5 and C6 cervical vertebrae.


Abnormality of the humeral epiphysis

description: An anomaly of the humeral epiphysis.


Nevus sebaceus

description: A solitary yellow-orange slightly raised plaque typically on scalp or face. The plaque typically thickens and becomes more verrucous or pebbly during childhood.


name: Abnormal circulating carbohydrate concentration

description: A deviation from the normal concentration of a carbohydrate in the blood circulation.


Anti-enterocyte antibody positivity

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


name: Increased level of N-acetylneuraminic acid in urine

description: An increase in the level of N-acetylneuraminic acid in the urine.


Frontoparietal cortical dysplasia

description: The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe.


Renal arteriole intima/media necrosis

description: Cell death (necrosis) in the inner or middle layer of the arterioles of the kidney.


Abnormal B cell count

description: A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells.


name: Cone-shaped epiphysis of the distal phalanx of the thumb

description: A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb 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.


name: Abnormal circulating nitrogen compound concentration

description: Any deviation from the normal concentration of a nitrogen compound in the blood circulation.


Reduced urinary inosine level

description: The amount of inosine in the urine, normalized for urine concentration, is below the lower limit of normal. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond.


Short proximal phalanx of the 2nd toe

description: Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia.


Hyperleucinemia

description: An increased concentration of leucine in the blood.


Fractured metatarsal bone of digit 4

description: A partial or complete breakage of the metatarsal bone of digit 4.


EEG with burst suppression

description: The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes.


Reduced antithrombin antigen

description: Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation.


Curved phalanges of the 3rd finger

description: Curved appearance of the phalanges of the 3rd finger.


Intellectual disability, profound

description: Profound mental retardation is defined as an intelligence quotient (IQ) below 20.


Abnormal aortic morphology

description: An abnormality of the aorta.


Hepatic sinusoidal dilatation

description: Presence of an increased amount of blood in the hepatic capillaries.


Upper lip pit

description: Depression located on the vermilion of the upper lip, usually paramedian.


Anti-Homer-3 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Homer-3.


Impaired tandem gait

description: Reduced ability to walk in a straight line while placing the feet heel to toe.


Ileocecal ulcer

description: An erosion of the mucous membrane in the region connecting the ileum and cecum.


name: Elevated circulating glutathione concentration

description: An abnormally increased level of glutathione in the blood circulation.


name: Proximal/middle symphalangism of 2nd toe

description: Bony fusion of the middle and proximal phalanges of the 2nd toe.


Anti-AK5 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-adenylate kinase 5 (AK5).


craniorachischisis

description: Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system.


Spasticity of facial muscles

description: Spasticity of one or more muscles innervated by the facial nerve.


name: Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger


Elevated urinary 2-oxoisocaproic level

description: The amount of 2-oxoisocaproic in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Confetti hypopigmentation pattern of lower leg skin


name: Focal EEG discharges with propagation to ipsilateral hemisphere

description: Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain.


Abnormal myocardium morphology

description: A structural anomaly of the muscle layer of the heart wall.


Hyperglycinemia

description: An elevated concentration of glycine in the blood.


Webbed penis

description: Ventral skinfold extending from penis to scrotum.


name: Abnormal radioactive iodine uptake test result

description: Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.


Supernumerary tracheal bronchus

description: Accessory bronchus which exits the trachea in addition to an anatomically normal branching upper lobe bronchus.


name: Elevated urine 3-methyladipic acid level

description: The amount of 3-methyladipic acid in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Abnormal extrahepatic bile duct morphology


middle cerebral artery infarction

description: Necrosis occurring in the middle cerebral artery distribution system which brings blood to the entire lateral aspects of each cerebral hemisphere. Clinical signs include impaired cognition; aphasia; agraphia; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction.


Focal automatism seizure

description: A focal seizure characterized at onset by coordinated motor activity. This often resembles a voluntary movement and may consist of an inappropriate continuation of preictal motor activity.


name: Focal autonomic seizure with pallor/flushing

description: A type of focal autonomic seizure characterized by changes of the skin as the initial semiological feature.


name: Contracture of the metacarpophalangeal joint of the 2nd finger

description: Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue.


Decreased portal vein velocity

description: A reduction in the velocity of portal venous flow, generally measured by Doppler ultrasound. Portal venous flow is normally towards the liver with peak systolic velocities in the range of 20-40 cm/s.


parathyroid hyperplasia

description: A hyperplasia that involves the parathyroid gland.


Curved distal phalanx of the 3rd finger

description: Curved appearance of the distal phalanx of the 3rd finger.


Incomplete cleft of the upper lip

description: Cleft of the upper lip that does not go all the way from the bottom of the upper lip until the nasal cavity.


Generalized amyloid deposition

description: A diffuse form of amyloidosis.


Abnormal seminal vesicle morphology

description: A structural abnormality of the seminal vesicle. The seminal vesicles are a pair of glands that also include the prostate gland and the bulbourethral glands and are located in the pelvis superior to the rectum, inferior to the fundus of the bladder and posterior to the prostate. The seminal vesicles contribute around 70% of the fluid that will eventually become semen.


Absent vertebral body mineralization

description: A lack of bone mineralization of the vertebral bodies.


name: Pigmented micronodular adrenocortical disease


Sterile arthritis

description: An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures.


Macrozoospermia

description: Increased size of the head of sperm.


name: Abnormality of the epiphyses of the 2nd finger

description: Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger.


name: Tetralogy of Fallot with pulmonary stenosis

description: The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus.


name: Abnormal size of nasopharyngeal adenoids

description: A deviation in the size of nasopharyngeal adenoids.


Abnormal femoral artery morphology

description: Any structural abnormality of the femoral artey, a large blood vessel that provides oxygenated blood to lower extremity structures and in part to the lower anterior abdominal wall.


Plantar pits

description: The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot.


Localized hirsutism

description: Abnormally increased hair growth with a localized distribution.


Long middle phalanx of finger

description: Increased length of the middle phalanx of finger.


name: Abnormal cortical peritubular capillary morphology

description: Anomalous structure of the peritubular capillaries located in the cortex of the kidney.


Anti-DPPX antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dipeptidyl-peptidase-like protein 6 (DPPX).


name: Elevated circulating transferrin concentration

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


Abnormal coronary artery course

description: An abnormal path of a coronary artery.


Arachnoid hemangiomatosis

description: The presence of multiple hemangiomas in the arachnoid.


Enteroviral hepatitis

description: Inflammation of the liver due to infection with enterovirus.


myofibrillar myopathy

description: Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients.


Narrow nail

description: Decreased width of nail.


Plant product allergy

description: Hypersensitivity in form of an adverse immune reaction against plant products.


Status cribrosum

description: Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations.


Elbow dislocation

description: Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.


Positive cold agglutinin test

description: Cold agglutinin are erythrocyte antibodies which possess the property of agglutinating red blood cells at temperatures of below 37 degrees C, this phenomenon is reversible after heating.


Myelin outfoldings

description: The presence of excessive redundant myelin in the peripheral nerve sheath.


Increased HDL2a concentration

description: An elevation above the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2a particle is defined as an HDL particle with a size of 8.80-9.69 nm.


name: Irregular epiphysis of the middle phalanx of the 4th toe


Aplasia of the 5th metacarpal

description: Absence of the fifth long bone of the hand.


Amplification of relationship seeking

description: Increased frequency or duration in social outings and interactions as part of relationship-seeking or maintenance compared to the previous norms of an individual.


Renal hypophosphatemia

description: Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion.


APUdoma

description: An endocrine tumor arising from an APUD cell.


spastic quadriplegic cerebral palsy

description: A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities.


Decreased serum bile acid concentration

description: A reduction in the concentration of bile acid in the blood.


Calcium channel antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels.


Bronchoconstriction

description: Tightening of smooth muscle surrounding the bronchi and bronchioles with consequent wheezing and shortness of breath.


Myocardial calcification

description: Calcium deposition in the myocardium.


Proximal limb muscle stiffness

description: Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in the proximal limb muscle.


subependymal giant cell astrocytoma

description: A benign, slowly growing tumor (WHO grade I) typically arising in the wall of the lateral ventricles and composed of large ganglioid astrocytes. It is the most common CNS neoplasm in patients with tuberous sclerosis complex and typically occurs during the first two decades of life. (WHO)


Dysmorphic inferior cerebellar vermis

description: A structural anomaly of the inferior portion of the vermis of cerebellum.


Progressive language deterioration

description: Progressive loss of previously present language abilities.


Short middle phalanx of the 2nd toe

description: Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia.


alveolar rhabdomyosarcoma

description: A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities.


Abnormal pulmonary situs morphology

description: An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi.


name: Contracture of the metacarpophalangeal joint of the 3rd finger

description: Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue.


Hand dimple

description: A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the hand.


Abnormality of dental structure

description: An abnormality of the structure or composition of the teeth.


name: Ground glass opacity of humeral diaphysis


name: Hyperchromasia of renal tubular epithelial cells

description: At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes.


Everted lower lip vermilion

description: An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.


Abnormal urinary guanosine level

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


Bethlem sign

description: Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures.


Fractured proximal phalanx of digit 2

description: A partial or complete breakage of the proximal phalanx of digit 2.


Saccular aortic arch aneurysm

description: An eccentric abnormal localized widening (dilatation) of the aortic arch that involves only a portion of the circumference of the vessel wall.


name: Contracture of the distal interphalangeal joint of the 4th finger

description: Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue.


XK aprosencephaly

description: XK aprosencephaly is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.


Forearm undergrowth

description: Forearm shortening because of underdevelopment of one or more bones of the forearm.


Elevated urine pyridinoline level

description: An increased amount of pyridinoline in the urine.


Hyperconvex toenail

description: When viewed on end (with the tip of the toe pointing toward the examiner's eye) the curve of the toenail forms a tighter curve of convexity.


Simplified gyral pattern

description: An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.


Brain imaging abnormality

description: An anomaly of metabolism or structure of the brain identified by imaging.


Acute colitis

description: An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum).


Cerumen abnormality

description: Any anomaly of the cerumen (ear wax), the yellowish waxy substance secreted in the ear canal.


Fetal cystic hygroma

description: The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm. Increased NT refers to a measurement above the 95th centile, and the term is used irrespective of whether the collection of fluid is septated or not, and whether it is confined to the neck or envelopes the whole fetus. After 14 weeks, increased NT usually resolves, but in some cases it evolves into nuchal edema or cystic hygromas.


impacted teeth, multiple

description: The presence of multiple impacted teeth.


name: Bullet-shaped phalanges of the 5th finger

description: A fifth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


description: Increased mobility of one ore more metacarpophalangeal joint.


Elevated circulating CCL18 level

description: An increased concentration of C-C motif chemokine ligand 18 in the blood circulation.


description: A form of lactic acidemia that occurs in relation to stress or infection.


Fragmented elastic fibers in the dermis

description: Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers.


name: Abnormal circulating monocarboxylic acid concentration

description: Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation.


Shoulder girdle muscle weakness

description: The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.


Absent distal interphalangeal creases

description: Absence of the distal interphalangeal flexion creases of the fingers.


Aplasia of the vestibular nerve.

description: Absence of the vestibular nerve


autosomal dominant cerebellar ataxia

description: A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.


Abnormal penile discharge

description: Fluid that originates from the urethra that is not urine, pre-ejaculate or semen.


Episodic ketoacidosis

description: Intermittent episodes of ketoacidosis.


Abnormality of mental function

description: Cognitive, psychiatric, or memory anomaly.


name: Renal arteriole leukocytic endoarterial hypercellularity

description: A type of renal arteriole endoarterial hypercellularity due to increased number of white blood cells (leukocytes).


Absent patellar reflexes

description: Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella.


Absent hallux

description: Aplasia of the hallux, that is, a development defect such that the big toe does not develop.


Hypergranulosis

description: Hypergranulosis is an increased thickness of the stratum granulosum.


name: Abnormal circulating inhibin B concentration

description: The concentration of inhibin B in the blood circulation is outside the limits of normal.


name: Bracket epiphysis of the distal phalanx of the thumb

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


name: Triangular epiphysis of the distal phalanx of the 2nd toe


ependymoma

description: A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes. (WHO)


name: Abnormal circulating adrenocorticotropin concentration

description: An abnormal concentration of corticotropin in the blood.


name: Sclerosis of metaphyses of the upper limbs


name: Abnormal proportion of CD4+ central memory cells

description: An abnormal proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype.


Small intestinal stenosis

description: The narrowing or partial blockage of a portion of the small intestine.


name: Triangular shaped phalanges of the 5th finger

description: Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Microprolactinoma

description: A pituitary prolactin cell adenoma of less than 10 mm diameter.


Toe joint contracture

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


Elevated circulating succinate

description: An increase concentration of succinate in the blood circulation.


Aplasia/Hypoplasia of the maxilla

description: Absence or underdevelopment of the maxilla.


name: Stippling of the epiphysis of the proximal phalanx of the 5th toe

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


Migratory arthritis

description: A form of reactive arthritis in which the inflammation moves between joints.


Small scaphoid

description: Underdevelopment of the scaphoid.


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

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


name: Aplasia of the middle phalanx of the hand

description: Absence of one or more middle phalanx of a finger.


name: White mater abnormalities in the posterior periventricular region


adrenal medulla neoplasm

description: A neoplasm (disease) that involves the adrenal medulla.


Temporal artery giant cells

description: The presence of giant cells in the temporal artery. This is a feature of giant cell arteritis. Giant cells are multinucleated cells formed by fusion of multiple macrophages and are typically located in the intima of the arterial wall. This feature is typically demonstrated by temporal artery biopsy but other arteries may also be affected.


Aplasia of the falx cerebri

description: A developmental defect characterized by aplasia of the Falx cerebri.


Aortopulmonary collateral arteries

description: Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus.


Unossified vertebral bodies

description: A lack of ossification of the vertebral bodies.


Cone-shaped distal radial epiphysis

description: The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance.


name: Arcuate artery intima/media coagulative necrosis

description: A type of arcuate artery intima/media necrosis in which the necrotic tissue retains the outlines of the dead (necrotic) structures.


isolated cerebellar hypoplasia/agenesis

description: Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures.


name: Abnormal proportion of naive CD8 T cells

description: Any abnormality in the proportion of naive CD8 T cells relative to the total number of T cells.


Pulmonary histoplasmosis

description: Infection of the lungs with Histoplasma capsulatum. Symptoms may include fever, headache, weakness, chest pain and dry cough. When imaging is done, chest radiographs may show patchy pneumonia involving one or more lobes with adenopathy of the mediastinum or hilum.


Brain atrophy

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


name: Atrophy/Degeneration involving the corticospinal tracts


Lunate-triquetral fusion

description: Osseous fusion of the lunate and triquetrum.


Hypoplasia of the lesser trochanter

description: Underdevelopment of the lesser trochanter.


Self-healing squamous epithelioma

description: A type of skin tumor that initially presents as a reddish macule and subsequently becomes papular, enlarged, ulcerated and ultimately heals leaving pitted scars.


name: Elevated alkaline phosphatase of hepatic origin

description: An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.


Lipoma of the tongue

description: A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue.


name: Patchy sclerosis of proximal toe phalanx

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


Bilambdoid synostosis

description: Premature synostosis of both lambdoid sutures.


Anti-Kv1.4 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the voltage-gated potassium channel Kv1.4.


Tapered distal phalanges of finger

description: A reduction in diameter of the distal phalanx of finger towards the distal end.


tracheal calcification

description: Abnormal deposits of calcium in the tracheal tissue.


Focal motor seizure with version

description: A type of focal motor seizure characterized by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation.


Abnormal isohemagglutinin level

description: An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).


Abnormal CSF glucose concentration

description: A deviation from normal concentration of glucose content in the cerebrospinal fluid.


Elevated urinary glutarylglycine level

description: The amount of glutarylglycine in the urine, normalized for urine concentration, is below the lower limit of normal.


Decreased FOXP3-expressing T cell count

description: The number of T cells in peripheral blood that express FOXP3-expressing is below the lower limit of normal. This finding is determined by flow cytometry.


name: Focal impaired awareness cognitive seizure with left-right confusion

description: A focal cognitive seizure with left-right confusion characterized by impairment of awareness at some point during the seizure.


Cardiac myxoma

description: A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origin and general project from the endocardium into a cardiac chamber.


Staghorn calculus

description: Large branching stones that fill part of all of the renal pelvis and renal calyces and they can be complete or partial depending on the level of occupancy of the collecting system.


Transmantle columnar heterotopia

description: Linear heterotopia spanning from the cerebral mantle from the pia to the ependyma.


Reverse typical atrial flutter

description: A type of atrial flutter associated with rounded or bimodal positive deflections in inferior leads II, III and aVF, and a very characteristic bimodal negative wave in the shape of a W is seen in lead V1.


Bicarbonaturia

description: Abnormally increased concentration of hydrogencarbonate in the urine.


Oromotor apraxia

description: Oral-motor apraxia is the inability to volitionally sequence oral movements of the speech structure for nonspeech tasks in the absence of neuromuscular deficits such as paralysis or muscle weakness. Oral-motor apraxia is diagnosed when, despite intact sensory motor function an individual is unable to use these effector systems under voluntary control.


Delayed tarsal ossification

description: Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.


Sparse axillary hair

description: Reduced number or density of axillary hair.


name: Starry sky appearance on hepatic sonography

description: An abnormal echotexture visible in liver ultrasound manifesting as a diffuse hyperechoic liver echotexture with multiple, small hypoechoic lesions. The appearance is said to resemble a starry sky (multiple white spots on a dark background).


Delayed calcaneal ossification

description: Delayed maturation and calcification of the calcaneus.


Astereognosis

description: Tactile agnosia refers to the inability to recognize objects by touch, while the inability to discriminate shape and size by touch is also a related condition.


name: Elevated circulating soluble CD163 concentration

description: The concentration of Soluble CD163 in the blood circulation is above the upper limit of normal.


name: Abnormality of the humeral epiphyseal plate


Intrusion symptom

description: Unintentional re-experiencing of a traumatic event involves symptoms that typically include sensory impressions and emotional responses stemming from the trauma. These symptoms seem to lack a sense of time perspective and context.


name: Abnormal circulating leucine concentration

description: Any deviation from the normal circulation of leucine in the blood circulation.


Finger swelling

description: Enlargement of the soft tissues of one or more fingers.


Clasp-knife sign

description: Clasp-knife phenomonen refers to increased muscle tone while bending or stretching a limb, whereby there is a sudden relaxation (decrease in resistance) as the muscle continues to be streched. This phenomenon has been likened to opening a clasp knife.


Focal T2 hyperintense brainstem lesion

description: A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem.


trichilemmal cyst

description: Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous.


Enteroviral encephalitis

description: Inflamation of the brain related to infection by an enterovirus.


Elongated femoral neck

description: Increased length of the neck of the femur.


Bronchial wall thickening

description: Radiological appearance of increased density around the walls of a bronchus or large bronchiole. This feature is thought to be related to edema involving the bronchial wall as well as the peribronchial interstitial space. If the cross section of a bronchus is captured in a radiograph or computed tomography image, it is said to have the appearance of a donut because of the central lucency representing the airway of the bronchus surrounded by a circular region of increased density.


Absent forearm bone

description: Absence of one or more forearm bones associated with congenital failure of development.


familial atrioventricular septal defect

description: A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves.


Dull

description: Applied to pain that is dull, i.e., not severe but that continues over a long period of time.


Accessory ectopic thyroid tissue

description: Accessory ectopic thyroid tissue arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract.


Stereotypical body rocking

description: Habitual repetitive movement of the entire body, front to back or side to side.


Labial hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the upper lip.


Temporomandibular joint ankylosis

description: Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening.


Subpleural interstitial thickening

description: Increase in thickness of the subpleural interstitium.


name: Reduced epidermal integrin alpha6beta4 protein expression


name: Abnormal proximal ulnar epiphysis morphology

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


Focal impaired awareness tonic seizure

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


name: Anti-threonyl-tRNA synthetase antibody positivity

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


Prominence of the premaxilla

description: Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla.


Decreased incisura length

description: The length of the incisura from the upper to lower border is less than that observed in the average population.


Pulmonary mycetoma

description: A mycetoma is a discrete mass of intertwined hyphae, usually of an Aspergillus species, matted together by mucus, fibrin, and cellular debris colonizing a cavity, usually from prior fibrocavitary disease (eg, tuberculosis or sarcoidosis). A mycetoma may move to a dependent location when the patient changes position and may show an air crescent sign. CT scans may show a spongelike pattern and foci of calcification in the mycetoma.


sebocystomatosis

description: Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities.


atrial septal aneurysm

description: A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography.


Shoulder flexion contracture

description: Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.


Irregular metacarpals

description: Irregular morphology of one or more metacarpal bones.


Paraplegia/paraparesis

description: Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength.


name: Osteolytic defects of the phalanges of the toes


name: Reduced circulating squalene concentration

description: The concentration of squalene in the blood circulation is below the lower limit of normal.


Laeden paralysis

description: The sensation of having heavy arms and legs, or feeling a heaviness in the limbs.


Exercise-induced rhabdomyolysis

description: Rhabdomyolysis induced by exercise.


Concentric hypertrophic cardiomyopathy

description: Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.


Absent proximal radial epiphyses

description: Absence of the proximal radial epiphysis.


Whooping cough

description: A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air.


lip neoplasm

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


Ambiguous facial expression

description: Spontaneous production of communicative facial expressions that have poor quality or are perceived as odd or mechanical. This may include inaccurate mimicry of typical facial expressions. These expressions may be difficult to interpret for someone who is not familiar with the individual making the expression.


Broad xiphoid process

description: Increased side-to-side width of the xiphoid process of the sternum.


Inflammatory myopathy

description: Chronic muscle inflammation accompanied by muscle weakness.


name: Abnormal brain FDG positron emission tomography

description: An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity.


Impaired mastication

description: An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing.


name: Sclerosis of the distal phalanx of the thumb

description: An elevation of bone density in the distal phalanx of the thumb.


Tooth agenesis

description: The absence of one or more teeth from the normal series by a failure to develop


Hypoplastic pelvis

description: Underdevelopment of the bony pelvis.


name: idiopathic spontaneous coronary artery dissection

description: The spontaneous occurrence of a dissection of the coronary artery. The clinical recognition of this phenomenon has increased as coronary angiography is becoming more commonly used in the treatment of acute coronary syndrome. The etiology of the condition has not been fully elucidated, but the mean age of presentation is 30-45 years, more than 70% are women, and 30% of cases occur in the peripartum period.


name: Increased CSF alpha-aminobutyrate concentration

description: Concentration of alpha-aminobutyrate in the cerebrospinal fluid above the upper limit of normal.


Abnormal enteric ganglion morphology

description: An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow.


Abnormal KCO

description: Any deviation from the normal range of KCO. The KCO is a measurement of the rate constant for alveolar uptake of CO during breath-holding in the single breath measurement of DLCO at full inflation. The DLCO is derived as the product of the KCO and the single breath alveolar volume (VA) divided by PB-PH2O.


Global glomerulosclerosis

description: Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%.


Abnormal CSF leucine concentration

description: Any deviation from the normal concentration of leucine in the cerebrospinal fluid.


Tachylalia

description: Fast speech.


Limb fasciculations

description: Fasciculations affecting the musculature of the arms and legs.


Arterial stenosis

description: Narrowing or constriction of the inner surface (lumen) of an artery.


Cleft mandible

description: Midline deficiency of the mandible and some or all overlying tissues.


Follicular hyperplasia

description: Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers.


Hypoplasia of the anterior nasal spine

description: Underdevelopment of the anterior nasal spine of maxilla.


Pulmonary artery sling

description: An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum.


Brachymetatarsus 4

description: Underdevelopment (hypoplasia) of the fourth toe.


Increased airway neuroepithelial bodies

description: Presence of increased numbers of bombesin-immuno-positive neuroendocrine cell cluster (neuroepithelial bodies) in the alveolar ducts.


name: Bracket epiphysis of the proximal phalanx of the 2nd toe


Triangular nail

description: Nail so wide as long with a distal part presenting an acute angle.


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


Valinuria

description: Urine valine level above the normal range.


eosinophilic granuloma

description: A clinical variant of Langerhans cell histiocytosis characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults usually presenting with a lytic bone lesion. The etiology is unknown. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu which includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes.


name: Anterior predominant thick cortex pachygyria

description: Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes.


name: Pseudoepiphysis of the proximal phalanx of the 5th toe

description: 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 fifth toe.


name: Decreased movement range in interphalangeal joints


Mallet finger

description: Mallet finger refers to a condition in which the end joint of a finger bends but will not straighten by itself. In this situation, the joint can be pushed straight but will not hold that position on its own.


Enlarged thalamic volume

description: An increase in the quantity of space occupied by the thalamus.


Secondary microcephaly

description: Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.


Abnormal inflammatory response

description: Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.


Onychogryposis of toenails

description: Thickened toenails.


Multilobulated spleen

description: The fetal spleen is lobulated, and these lobules normally disappear before the birth. Lobulation of the spleen may persist into adult life and be typically seen along the medial part of the spleen. A persisting lobule results in a variation in shape of the spleen.


Anterior pituitary dysgenesis

description: Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis.


Abnormal lymphatic vessel morphology

description: A structural anomaly of the vessel that contains or conveys lymph fluid.


Focal autonomic seizure with erection

description: A type of focal autonomic seizure characterized by penile erection as the initial semiological feature.


name: Contractures of the proximal interphalangeal joint of the 5th toe

description: The proximal interphalangeal joint of the fifth toe cannot be straightened actively or passively.


Retrognathia

description: An abnormality in which the mandible is mislocalised posteriorly.


Elevated CSF sarcosine concentration

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


name: Abnormality of the autonomic nervous system

description: An abnormality of the autonomic nervous system.


Abnormal CD4:CD8 ratio

description: Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes.


Chronic metabolic acidosis

description: Longstanding metabolic acidosis.


Orange urine

description: An abnormal orange color of urine.


Giant somatosensory evoked potentials

description: An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials.


Absent/hypoplastic paranasal sinuses

description: Aplasia or hypoplasia of the paranasal sinuses.


Acute hyperammonemia

description: An increased concentration of ammonia in the blood with sudden onset.


Treacher-Collins syndrome

description: A congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.


name: Blood pressure substantially higher in arms than legs

description: An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the arms being much higher than the blood pressure measure in the legs. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm.


name: Increased urinary O-linked sialopeptides

description: Excretion of peptides conjugated to sialic acid in the urine.


name: Abnormality of the fontanelles or cranial sutures

description: Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments).


preauricular fistulae, congenital

description: A pit or dimple in front of the ear of a newborn is a common finding; rarely, such a dimple may get infected, which will be manifested with redness and swelling and will require medical attention.


name: Abnormality of the epiphysis of the 3rd metacarpal

description: Any abnormality of the epiphysis of the third metacarpal bone.


name: Increased proportion of CD4+CD25+ regulatory T cells

description: An abnormally increased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.


Abnormality of internal jugular vein

description: An abnormality of an internal jugular vein.


Ectopic kidney

description: A developmental defect in which a kidney is located in an abnormal anatomic position.


Myocardial lymphocytic infiltration

description: An increase in the number of lymphocytes in myocardial tissue.


name: Renal interstitial calcium phosphate deposits

description: The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits.


Abnormal fingernail morphology

description: An abnormality of the fingernails.


Anti-H2A-H2B antibody positivity

description: The presence of autoantibodies in the blood circulation that react against the H2A-H2B histone dimer.


Anal margin neoplasm

description: A tumor of the anal margin.


Axonal loss

description: A reduction in the number of axons in the peripheral nervous system.


description: Decreased proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.


Absent speech

description: Complete lack of development of speech and language abilities.


name: Increased circulating beta-2-microglobulin level

description: Elevated concentration of beta-2-microglobulin in the blood.


Conotruncal defect

description: A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle.


Pancreatic hyperplasia

description: Hyperplasia of the pancreas.


name: Elevated urinary pyrroline hydroxycarboxylic acid level

description: The amount of pyrroline hydroxycarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal.


Abnormal sleep architecture

description: Interruptions during the various stages of sleep.


Aplasia of the phalanges of the hand

description: Absence of one or more of the phalanges of the hand.


Overgrowth

description: Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.


ovarian gonadoblastoma

description: A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites.


Abnormality of thumb phalanx

description: A structural anomaly of one or more phalanges of the thumb.


name: Linear arrays of macular hyperkeratoses in flexural areas


name: Increased circulating N-acetylaspartic acid concentration

description: Concentration of N-acetylaspartic acid in the blood circulation above the upper limit of normal.


Juvenile colonic polyposis

description: The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands.


megalencephaly

description: A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome).


Abnormal liver morphology

description: Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage.


Elevated brain glycine level by MRS

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


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

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


description: A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset.


Follicular bronchiolitis

description: Follicular bronchiolitis is a polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the is characterized by the development of lymphoid follicles with germinal centers in walls of the small airways.


Bronchopulmonary anastomosis

description: Abnormal arterial anastomosis (connection) between bronchial and pulmonary arteries.


Increased urinary 3-methylhistidine

description: Increased concentration of 3-methylhistidine in the urine.


Accessory cranial suture

description: A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant.


Protruding ear

description: Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).


Anteroposteriorly shortened larynx

description: Abnormal shortening of the larynx in the anteroposterior (front to back) axis.


name: Fragmentation of the epiphysis of the proximal phalanx of the 5th finger

description: Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger.


name: Anti-plasminogen binding peptide antibody positivity

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


Nitrituria

description: Presence of nitrites in the urine.


name: Elevated circulating decanoylcarnitine concentration

description: Concentration of decanoylcarnitine (C10:0) in the blood circulation above the upper limit of normal.


name: Abnormal superficial temporal artery morphology

description: Any structural abnormality of a superficial temporal artery, originating from the external carotid artery and passing over the zygomatic process. The superficial temporal artery is located on the superficial parts of the forehead and sides of the head and face.


left ventricular noncompaction

description: Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.


name: Shortening of all middle phalanges of the toes

description: Abnormal shortening of all middle phalanges of toes.


Seafood allergy

description: Hypersensitivity in form of an adverse immune reaction against seafood.


name: Abnormal portal venous system morphology

description: Any structural anomaly of the portal venous sytem, which comprises all of the veins draining the abdominal part of the digestive tract, including the lower esophagus but excluding the lower anal canal. The portal vein conveys blood from viscera and ramifies like an artery at the liver, ending at the sinusoids. Tributaries of the portal vein, which make up the portal venous system, are the splenic, superior mesenteric, left gastric, right gastric, paraumbilical, and cystic veins.


Congenital intracerebral calcification

description: The presence of calcium deposition within brain structures that is present already at the time of birth.


Abnormal serum osmolality

description: Any deviation from the normal range of the serum osmolality, defined as the sum of the osmolalities of every single dissolved particle in the blood such as sodium and associated anions, potassium, glucose, and urea.


Axillary pterygium

description: Presence of a cutaneous membrane (flap) in the armpit.


rhabdomyoma

description: A benign mesenchymal tumor arising from skeletal or cardiac muscle.


name: Increased ratio of VWF propeptide to VWF antigen

description: An increased VWF propeptide to VWF antigen indicates that deficiency of VWF is not due to impaired synthesis but due to rapid clearance. The VWF propeptide is measured by ELISA.


name: Complete or near-complete absence of specific antibody response to tetanus vaccine

description: The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.


name: Unbalanced atrioventricular canal defect

description: Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced).


name: Irregular epiphysis of the distal phalanx of the 3rd toe


name: Renal interstitial globotriaosylceramide inclusions

description: Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC).


Postprandial hyperglycemia

description: An increased concentration of glucose in the blood following a meal.


Bilateral vestibular schwannoma

description: A bilateral vestibular schwannoma (acoustic neurinoma).


Left unicoronal synostosis

description: Synostosis affecting only the left coronal suture.


Anterior wedging of T11

description: An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front).


osteoarthritis susceptibility 2

description: Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically.


Knee joint hypermobility

description: The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees).


Pathologic fracture

description: A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.


Reduced thyroxin-binding globulin

description: An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream.


name: Elevated circulating N-carbamyl-beta-aminoisobutyric acid concentration

description: The concentration of N-carbamyl-beta-aminoisobutyric acid in the blood circulation is above the upper limit of normal.