juvenile myelomonocytic leukemia

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)


Small epiphysis of the middle phalanx of the 5th toe

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


Generalized atonic seizure

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

A hemangioblastoma of the spinal cord.


Anti-epidermal transglutaminase antibody positivity

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


Onychogryposis of fingernail

Thickened fingernails.


Anti-U11/U12 RNP antibody positivity

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


Monoclonal elevation of intact IgG

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


Abnormal enzyme concentration or activity

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


tracheal stenosis

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

Narrowing of the lumen of the trachea.


Dilatation of an abdominal artery

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


Hoffmann sign

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

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


Orotic acid crystalluria

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


EEG with frontal focal spikes

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


Focal aware manual automatism seizure

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


Multiple trichilemmomata

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


Fractured proximal phalanx of digit 3

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


Abnormal femoral epiphysis morphology

An anomaly of a growth plate of a femur.


Avoids emotional intimacy

Tendency to avoid interpersonal exchanges characterizing by sharing of personal feelings, expressions of understanding, affirmation, and demonstrations of caring.


Vertebral artery hypoplasia

Underdevelopment of the vertebral artery.


Hypoplasia of the semicircular canal

Underdevelopment of the semicircular canal.


1-5 finger complete cutaneous syndactyly


Gemination

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


Anti-RuvBL1/2 antibody positivity

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


Ivory epiphysis of the proximal phalanx of the thumb

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.


Abnormal von Willebrand factor multimer distribution

Deviation from the normal von Willebrand factor multimer pattern.


Eosinophil nuclear hypersegmentation

An excessive division of the lobes of the nucleus of eosinophils. Eosinophils with more than two nuclear lobes are commonly regarded as hypersegmented, because seventy to ninety percent of peripheral blood eosinophils have two nuclear lobes.


Partial fusion of proximal row of carpal bones


Abnormal urinary non-proteinogenic amino acid level

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

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.


Increased circulating prealbumin concentration

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


Focal aware motor seizure with version

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


Necrotizing pulmonary granulomatosis

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

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

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


Abnormality of stem of antihelix

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


Sensory hyposensitivity unexplained by sensory deficit

Increased tolerance to sensory stimuli due to diminished sensory ability.


Decreased proportion of CD4-positive helper T cells

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


epilepsia partialis continua

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)


Abnormality of mitochondrial metabolism

A functional anomaly of mitochondria.


Elevated circulating alpha-aminobutyric acid concentration

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

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


Abnormal hip joint morphology

An abnormality of the hip joint.


Decreased fibular diameter

Reduced width of the cross sectional diameter of the fibula.


Skin nodule

Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat.


46,XX disorder of sex development

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.


Stippled calcification proximal humeral epiphyses


Ossifying fibroma of the jaw

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


Bullet-shaped proximal phalanx of the 3rd toe

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.


Medullary peritubular capillary intraluminal thrombi

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.


Metaphyseal cupping of proximal phalanges

Metaphyseal cupping affecting the proximal phalanges.


A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid.


Type I truncus arteriosus

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

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


Partial absence of the septum pellucidum

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.


Elevated circulating branched chain amino acid concentration

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


Multicentric femoral head ossification

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


Aplasia/Hypoplasia involving the vertebral column


Hypoplasia of maxilla relative to mandible

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


Open comedo

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

Abnormal structure of a vein located inside the kidney parenchyma.


Absent platelet dense granules

Lack of platelet dense granules, a type of platelet organelles.


Metaphyseal sclerosis

Abnormally increased density of metaphyseal bone.


Meat allergen allergy

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


Quelprud nodule

Small cartilaginous prominence on the posterior concha.


Abnormal ossification involving the femoral head and neck


Large pelvis bone

The presence of an abnormally large pelvis.


Generalized tonic seizure

A generalized tonic seizure is a type of generalized motor seizure characterised 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

Developmental hypoplasia of the intestine.


Abnormality of the distal humeral epiphysis

Any abnormality of the distal epiphysis of the humerus.


Symphalangism affecting the distal phalanx of the 5th toe


Tracheal atresia

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

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

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

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


Cervical C5/C6 vertebrae fusion

Fusion of the C5 and C6 cervical vertebrae.


Abnormality of the humeral epiphysis

An anomaly of the humeral epiphysis.


Nevus sebaceus

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


Abnormal circulating carbohydrate concentration

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


Anti-enterocyte antibody positivity

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


Frontoparietal cortical dysplasia

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


Non-caseating epithelioid cell granulomatosis

The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese).


Renal arteriole intima/media necrosis

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


Abnormal B cell count

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.


Cone-shaped epiphysis of the distal phalanx of the thumb

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.


Abnormal circulating nitrogen compound concentration

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


Short proximal phalanx of the 2nd toe

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


Hyperleucinemia

An increased concentration of leucine in the blood.


Fractured metatarsal bone of digit 4

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


EEG with burst suppression

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

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


Curved phalanges of the 3rd finger

Curved appearance of the phalanges of the 3rd finger.


Intellectual disability, profound

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


Abnormal aortic morphology

An abnormality of the aorta.


Upper lip pit

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


Anti-Homer-3 antibody

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


Impaired tandem gait

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


Ileocecal ulcer

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


Elevated circulating glutathione concentration

An abnormally increased level of glutathione in the blood circulation.


Proximal/middle symphalangism of 2nd toe

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


Anti-AK5 antibody positivity

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


craniorachischisis

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

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


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


Confetti hypopigmentation pattern of lower leg skin


Focal EEG discharges with propagation to ipsilateral hemisphere

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


Abnormal myocardium morphology

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


Abnormal cord blood measurement

An abnormality in any umbilical cord measurement performed after birth, such as the blood gas level.


Hyperglycinemia

An elevated concentration of glycine in the blood.


Abnormal radioactive iodine uptake test result

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.


middle cerebral artery infarction

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

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.


Focal autonomic seizure with pallor/flushing

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


Contracture of the metacarpophalangeal joint of the 2nd finger

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


Abnormality of the epiphyses of the 2nd finger

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


parathyroid hyperplasia

A hyperplasia that involves the parathyroid gland.


Curved distal phalanx of the 3rd finger

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


Incomplete cleft of the upper lip

A subtle unilateral cleft of the upper lip, which may appear as a small indentation.


Generalized amyloid deposition

A diffuse form of amyloidosis.


Pigmented micronodular adrenocortical disease


Sterile arthritis

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


Tetralogy of Fallot with pulmonary stenosis

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.


Abnormal size of nasopharyngeal adenoids

A deviation in the size of nasopharyngeal adenoids.


Polychromasia

Increased variation in the color of the erythrocytes (red blood cells), including pale red, normal or dark colors, indicating a highly variable hemoglobin concentration. Typically this indicates the release of immature erythrocytes in states of anemia.


Plantar pits

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

Abnormally increased hair growth with a localized distribution.


Long middle phalanx of finger

Increased length of the middle phalanx of finger.


Abnormal cortical peritubular capillary morphology

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


Anti-DPPX antibody

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


Elevated circulating transferrin concentration

An abnormally increased concentration of transferrin in the blood circulation.


Abnormal coronary artery course

An abnormal path of a coronary artery.


Arachnoid hemangiomatosis

The presence of multiple hemangiomas in the arachnoid.


Enteroviral hepatitis

Inflammation of the liver due to infection with enterovirus.


myofibrillar myopathy

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

Decreased width of nail.


Plant product allergy

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


Status cribrosum

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

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


Myelin outfoldings

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


Increased HDL2a concentration

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.


Irregular epiphysis of the middle phalanx of the 4th toe


Aplasia of the 5th metacarpal

Absence of the fifth long bone of the hand.


Renal hypophosphatemia

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


APUdoma

An endocrine tumor arising from an APUD cell.


spastic quadriplegic cerebral palsy

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


Decreased serum bile acid concentration

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


Calcium channel antibody positivity

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


Bronchoconstriction

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


Myocardial calcification

Calcium deposition in the myocardium.


Proximal limb muscle stiffness

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

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

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


Progressive language deterioration

Progressive loss of previously present language abilities.


Short middle phalanx of the 2nd toe

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


alveolar rhabdomyosarcoma

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

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.


Contracture of the metacarpophalangeal joint of the 3rd finger

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


tumor of parathyroid gland

A neoplasm (disease) that involves the parathyroid gland.


Hand dimple

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


Abnormality of dental structure

An abnormality of the structure or composition of the teeth.


Ground glass opacity of humeral diaphysis


Hyperchromasia of renal tubular epithelial cells

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


Everted lower lip vermilion

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.


Bethlem sign

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

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


Saccular aortic arch aneurysm

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


Contracture of the distal interphalangeal joint of the 4th finger

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


XK aprosencephaly

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

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


Hyperconvex toenail

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

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


Acute colitis

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


Cerumen abnormality

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


Fetal cystic hygroma

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

The presence of multiple impacted teeth.


Bullet-shaped phalanges of the 5th finger

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


Increased mobility of one ore more metacarpophalangeal joint.


Elevated circulating CCL18 level

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


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


Fragmented elastic fibers in the dermis

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


Abnormal circulating monocarboxylic acid concentration

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


Shoulder girdle muscle weakness

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

Absence of the distal interphalangeal flexion creases of the fingers.


Aplasia of the vestibular nerve.

Absence of the vestibular nerve


spinocerebellar ataxia type 4

Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by ataxia with sensory neuropathy.


Episodic ketoacidosis

Intermittent episodes of ketoacidosis.


Abnormality of higher mental function

Cognitive, psychiatric or memory anomaly.


Renal arteriole leukocytic endoarterial hypercellularity

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


Absent patellar reflexes

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


lipomatosis

A neoplastic process characterized by diffuse overgrowth of mature adipose tissue.


Absent hallux

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


Increased intraabdominal fat

An abnormal increase in the amount of intraabdominal fat tissue.


Hypergranulosis

Hypergranulosis is an increased thickness of the stratum granulosum.


Bracket epiphysis of the distal phalanx of the thumb

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.


Triangular epiphysis of the distal phalanx of the 2nd toe


Single naris

The presence of only a single nostril.


ependymoma

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)


Abnormal circulating adrenocorticotropin concentration

An abnormal concentration of corticotropin in the blood.


Sclerosis of metaphyses of the upper limbs


Abnormal proportion of CD4+ central memory cells

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.


Triangular shaped phalanges of the 5th finger

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

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


Toe joint contracture

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.


Aplasia/Hypoplasia of the maxilla

Absence or underdevelopment of the maxilla.


adrenal medulla neoplasm

A neoplasm (disease) that involves the adrenal medulla.


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

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


Migratory arthritis

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


Small scaphoid

Underdevelopment of the scaphoid.


Enlarged epiphysis of the proximal phalanx of the 4th finger

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.


Aplasia of the middle phalanx of the hand

Absence of one or more middle phalanx of a finger.


White mater abnormalities in the posterior periventricular region


Aplasia of the falx cerebri

A developmental defect characterized by aplasia of the Falx cerebri.


Aortopulmonary collateral arteries

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.


Cone-shaped distal radial epiphysis

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.


Arcuate artery intima/media coagulative necrosis

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

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.


Foot dorsiflexor weakness

Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.


Abnormal proportion of naive CD8 T cells

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


Pulmonary histoplasmosis

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

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


Atrophy/Degeneration involving the corticospinal tracts


Lunate-triquetral fusion

Osseous fusion of the lunate and triquetrum.


congenital absence of upper arm and forearm with hand present

A congenital malformation in which the upper portion of a limb is either shortened or absent.


Hypoplasia of the lesser trochanter

Underdevelopment of the lesser trochanter.


Self-healing squamous epithelioma

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


Elevated alkaline phosphatase of hepatic origin

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


Lipoma of the tongue

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


Patchy sclerosis of proximal toe phalanx

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

Premature synostosis of both lambdoid sutures.


Abnormal L-selectin shedding

An abnormality in the cleavage of L-selectin during the process of guiding neutrophils to the site of infection. Proteolytic cleavage of L-selectin results in rapid shedding from the cell surface, which has a role in neutrophil rolling and accumulation at the site of infection.


Anti-Kv1.4 antibody

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


Tapered distal phalanges of finger

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


tracheal calcification

Abnormal deposits of calcium in the tracheal tissue.


Focal motor seizure with version

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


Abnormal isohemagglutinin level

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

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


Focal impaired awareness cognitive seizure with left-right confusion

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


Cardiac myxoma

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

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

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


Reverse typical atrial flutter

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.


Oromotor apraxia

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

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

Reduced number or density of axillary hair.


Abnormality of the humeral epiphyseal plate


Delayed calcaneal ossification

Delayed maturation and calcification of the calcaneus.


Starry sky appearance on hepatic sonography

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).


Abnormal circulating leucine concentration

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


Finger swelling

Enlargement of the soft tissues of one or more fingers.


Clasp-knife sign

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

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

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.


Elongated femoral neck

Increased length of the neck of the femur.


Absent forearm bone

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


Dull

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


Accessory ectopic thyroid tissue

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


Stereotypical body rocking

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


Labial hemangioma

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


Temporomandibular joint ankylosis

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


Subpleural interstitial thickening

Increase in thickness of the subpleural interstitium.


Reduced epidermal integrin alpha6beta4 protein expression


Abnormal proximal ulnar epiphysis morphology

Any abnormality of the proximal epiphysis of the ulna.


Focal impaired awareness tonic seizure

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


Anti-threonyl-tRNA synthetase antibody positivity

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


Prominence of the premaxilla

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

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


sebocystomatosis

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

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

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

Irregular morphology of one or more metacarpal bones.


Paraplegia/paraparesis

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.


Osteolytic defects of the phalanges of the toes


Exercise-induced rhabdomyolysis

Rhabdomyolysis induced by exercise.


Concentric hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.


Absent proximal radial epiphyses

Absence of the proximal radial epiphysis.


Whooping cough

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

A neoplasm (disease) that involves the lip.


Broad xiphoid process

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


Inflammatory myopathy

Chronic muscle inflammation accompanied by muscle weakness.


Impaired mastication

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


Sclerosis of the distal phalanx of the thumb

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


Tooth agenesis

The absence of one or more teeth from the normal series by a failure


Hypoplastic pelvis

Underdevelopment of the bony pelvis.


Increased CSF alpha-aminobutyrate concentration

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


Abnormality of enteric ganglion morphology

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

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

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

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


Tachylalia

Fast speech.


Limb fasciculations

Fasciculations affecting the musculature of the arms and legs.


Brachymetatarsus 4

Underdevelopment (hypoplasia) of the fourth toe.


Cleft mandible

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


Follicular hyperplasia

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


Hypoplasia of the anterior nasal spine

Underdevelopment of the anterior nasal spine of maxilla.


Pulmonary artery sling

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.


Bracket epiphysis of the proximal phalanx of the 2nd toe


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


Valinuria

Urine valine level above the normal range.


Anterior predominant thick cortex pachygyria

Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severety 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.


Pseudoepiphysis of the proximal phalanx of the 5th toe

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


Decreased movement range in interphalangeal joints


Mallet finger

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

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


Secondary microcephaly

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

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

Thickened toenails.


Multilobulated spleen

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

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


Abnormal lymphatic vessel morphology

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


salivary gland disorder

A disease involving the saliva-secreting gland.


Focal autonomic seizure with erection

A type of focal autonomic seizure characterised by penile erection as the intial semiological feature.


Contractures of the proximal interphalangeal joint of the 5th toe

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


Low insertion of columella

Insertion of the posterior columella below the nasal base.


Mobitz type I atrioventricular block

A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a progressively lengthening PR interval prior to the block of an atrial impulse. (CDISC)


Elevated CSF sarcosine concentration

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


Abnormality of the autonomic nervous system

An abnormality of the autonomic nervous system.


Abnormal CD4:CD8 ratio

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


Chronic metabolic acidosis

Longstanding metabolic acidosis.


Acute hyperammonemia

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


mandibulofacial dysostosis

A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)


Blood pressure substantially higher in arms than legs

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.


Abnormality of the fontanelles or cranial sutures

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

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.


Red blood cell keratocytosis

A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns.


Abnormality of the epiphysis of the 3rd metacarpal

Any abnormality of the epiphysis of the third metacarpal bone.


Increased proportion of CD4+CD25+ regulatory T cells

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

An abnormality of an internal jugular vein.


Ectopic kidney

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


Myocardial lymphocytic infiltration

An increase in the number of lymphocytes in myocardial tissue.


Renal interstitial calcium phosphate deposits

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


Reticulocytopenia

A reduced number of reticulocytes in the peripheral blood.


Abnormal fingernail morphology

An abnormality of the fingernails.


Anti-H2A-H2B antibody positivity

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


Anal margin neoplasm

A tumor of the anal margin.


Axonal loss

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


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

Complete lack of development of speech and language abilities.


Increased circulating beta-2-microglobulin level

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


Bone-marrow foam cells

The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance.


Pancreatic hyperplasia

Hyperplasia of the pancreas.


Aplasia of the phalanges of the hand

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


ovarian gonadoblastoma

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.


Conotruncal defect

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.


Abnormality of thumb phalanx

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


Linear arrays of macular hyperkeratoses in flexural areas


Increased circulating N-acetylaspartic acid concentration

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


Juvenile colonic polyposis

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.


Abnormal liver morphology

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


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

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


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

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

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


Increased urinary 3-methylhistidine

Increased concentration of 3-methylhistidine in the urine.


Protruding ear

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).


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

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


Anti-plasminogen binding peptide antibody positivity

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


left ventricular noncompaction

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.


Shortening of all middle phalanges of the toes

Abnormal shortening of all middle phalanges of toes.


Seafood allergy

Hypersensitivity in form of an adverse immune reaction against seafood.


Abnormal portal venous system morphology

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

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


Axillary pterygium

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


Titubation

Nodding movement of the head or body.


rhabdomyoma

A benign mesenchymal tumor arising from skeletal or cardiac muscle.


Increased ratio of VWF propeptide to VWF antigen

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.


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

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


Unbalanced atrioventricular canal defect

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).


Irregular epiphysis of the distal phalanx of the 3rd toe


osteoarthritis susceptibility 2

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.


Renal interstitial globotriaosylceramide inclusions

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

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


neurofibromatosis type 2

A tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.


Left unicoronal synostosis

Synostosis affecting only the left coronal suture.


Knee joint hypermobility

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


Reduced thyroxin-binding globulin

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.


Acetabular dysplasia

A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain.


Klippel-Feil syndrome

A congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy.


Abnormal platelet granule secretion

Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion.


Postaxial polysyndactyly of foot

Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe).


Thick nasal alae

Increase in bulk of the ala nasi.


Abnormal metaphysis morphology

An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.


Pruritus on foot

Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the foot.


Anteverted nares

Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).


Regional left ventricular wall motion abnormality

An abnormal motion of a segment of the left ventricle during the cardiac cycle.


Foot pain

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


Morbus Koehler

Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis.


Abnormal amyloid beta 42 peptide CSF concentration

Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta42, which is 42 amino acids in length, is the longer form.


Anti-liver cytosolic antigen type 1 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction.


Decreased proportion of CD8-positive T cells

A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells.


Elevated bronchoalveolar lavage fluid lymphocyte proportion

Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases.


Eyelid myoclonus

Marked, involuntary jerking of the eyelids.


Limited ankle dorsiflexion

Reduced ability to move the foot up toward the shin.


Abnormal CSF arginine concentration

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


Fractured distal phalanx of manual digit 5

A partial or complete breakage of the distal phalanx of manual digit 5.


piebaldism

Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.


Anti-mGluR1 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 1 (mGluR1).


Abnormal urine cytology

An anomalous finding in the examination of the urine for cells.


Substantia nigra hypointensity on susceptibility-weighted imaging

Hypointence (dark) appearance of the substantia nigra inmagnetic resonance imaging using susceptibility weighted imaging (SWI).


Hand muscle atrophy

Muscular atrophy involving the muscles of the hand.


Pituitary thyrotropic cell adenoma

A type of pituitary adenoma that produces thyroid stimulating hormone (TSH).


Focal impaired awareness autonomic seizure

A focal autonomic seizure characterised by impaired awareness at some point within the seizure.


Fractured middle phalanx of pes

A partial or complete breakage of the middle phalanx of pes.


Focal aware cognitive seizure with expressive dysphasia/aphasia

A focal cognitive seizure with expressive dysphasia / aphasia characterized by retained awareness throughout the seizure.


Splayed superior cerebellar peduncle

Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle.


Jejunitis

Inflammation of the lining of the middle section of the small intestine.


Abnormality of umbilical vein blood flow

A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein.


Curved middle phalanx of the 4th finger

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


Cementoma

An odontogenic tumor of the cementum of tooth.


Neonatal electro-clinical non-motor seizure


Ivory epiphyses of the 3rd finger

Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Stenosis of the external auditory canal

An abnormal narrowing of the external auditory canal.


EEG with hyperventilation-induced generalized epileptiform discharges

Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


Tooth malposition

Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth.


Morbus Kienboeck

Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum.


Dislocated wrist

An injury of the wrist with displacement of any of the eight carpal bones.


Decreased body mass index

Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages.


Decreased proportion of immature B cells

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


Imperforate tricuspid valve

A tricuspid valve that has failed to open.


Isolated diastolic hypotension

A decrease in diastolic blood pressure (<60 mmHg) without a decrease in systolic blood pressure (> or = to 100 mmHg).


Mild malformation of cortical development

A malformation of cortical development characterized by mild abnormalities of the cortex: excessive heterotopic neurons in Layer 1 or microscopic neuronal clusters or excess of single neurons of normal morphology in deep white matter.


Fatigable weakness of speech muscles

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


Impaired ristocetin cofactor assay activity

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


Abnormal ejaculation

Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract.


Dislocation of the femoral head

Joint dislocation of the femoral head.


Abnormal Schwann cell morphology

Abnormality of schwann cells, glial cells that ensheath axons of neurons in the peripheral nervous system and are necessary for their maintenance and function.


Palmoplantar blistering

A type of blistering that affects the skin of the palms of the hands and the soles of the feet.


Hyporeflexia of lower limbs

Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.


Recurrent pyelonephritis

Repeated episodes of pyelonephritis.


Abnormal proportion of CD8-positive, alpha-beta memory T cells

An abnormal 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.


Increased proportion autoreactive unresponsive CD21-/low B cells

Increased proportion relative to B-lymphocytes of a subset of B lymphocytes characterized by dim/low levels of CD21, i.e., CD21-/low, in flow cytometry, and additionally enriched in autoreactive clones as determined for instance by clonse showing rheumatoid factor (anti-IgG) reactivity and antibodies recognizing cytoplasmic and to a lesser extent nuclear structures.


Periungual erythema

Erythema (redness of the skin caused by hyperemia in superficial capillaries) in the region surrounding a fingernail or toe nail.


Flared upper limb metaphysis

The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm.


Abnormal vagina morphology

Any structural abnormality of the vagina.


Multiple palmar creases

The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease).


Hypoplastic colon

Underdevelopment of the colon.


Abnormal mean corpuscular hemoglobin concentration

A deviation from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.


Abnormal gastrointestinal vascular morphology


right atrial isomerism

A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12.


Anti-HLA-A antibody positivity

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


Empty ovarian follicle

A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization.


Abnormal glucose-6-phosphate dehydrogenase level in tissue

An anomaly in the level of glucose-6-phosphate dehydrogenase in tissue.


Atrophy/Degeneration involving the spinal cord


Abnormality of permanent molar morphology

An abnormality of morphology of permanent molar.


Abnormal platelet membrane protein expression

Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry.


Late inspiratory crackles

Crackles that appear any time after the beginning of inspiration and last till the end of inspiration.


Aplasia of the middle phalanges of the toes


Abnormal metatarsal morphology

Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes).


Abnormality of the middle phalanx of the 2nd finger


Deep S wave in lead V5

Abnormal depth of the S wave in lead V5 of the electrocardiogram.


Curvilinear pericallosal lipoma

A type of pericallosal lipoma that is thin and curves around the posterior end of the splenium of the corpus callosum.


Psychogenic non-epileptic seizure

Psychogenic non-epileptic seizures (PNES) are an important cause of apparently treatment-resistant epilepsy and remain a major diagnostic challenge in epileptology. The two main PNES groups are panic disorder (also occurring as a reaction in people with epilepsy) and dissociative disorder (pseudoseizure), often developing inpatients with no history of epilepsy. The main markers distinguishing PNES from epileptic seizures are (i) the way the patient tells the story (not focusing on the seizure symptoms, avoidance of the word seizure, etc); (ii) that they are prolonged (many minutes); (iii) associated with hyperventilation and eyes closed; and that they present as treatment-resistant epilepsy despite an often normal intellect and brain imaging.


maligant granulosa cell tumor of ovary

An aggressive granulosa cell tumor that arises from the ovary and metastasizes to other anatomic sites.


Coarsened hepatic echotexture

The appearance of the liver in sonographic images is normally uniform. This term applies when there is an irregular or non-uniform appearance of the liver parenchyma in liver sonography.


Triangular epiphysis of the proximal phalanx of the thumb

A triangular appearance of the epiphysis of the proximal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. 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.


Osteolytic defects of the distal phalanx of the 2nd toe


central neurocytoma

Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good.


Bullet-shaped phalanges of the 2nd finger

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


Elevated circulating sitosterol concentration

An increased concentration of beta-sitosterol in the blood circulation.


Molar incisor malformation

Molar incisor malfomation (MIM) is composed of normal crown with marked cervical constriction, thin, narrow short roots which is a combination of signs that occurs in deciduous and permanent molars.


Absence of CD4-positive, CD25-positive regulatory T cells

Lack of CD4+CD25+ T regulatory cells.


Aplasia/Hypoplasia of the pubic bone

Absence or underdevelopment of the pubic bone.


Triangular shaped proximal phalanx of the 4th finger

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


Abnormal tricuspid valve annulus morphology

Any structural anomaly of the annulus of the tricuspid valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.


basal encephalocele

Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares.


Target cells

Target cells (codocytes) have a centrally located disk of hemoglobin surrounded by an area of pallor with an outer rim of hemoglobin adjacent to the cell membrane giving the cell the appearance of a target.


Intrascapular pain

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


Anti-desmoglein-1 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-1, a dermal cell adhesion molecule.


Anterior tibial bowing

An abnormal anterior bending or curvature of the tibia.


Bullet-shaped distal phalanx of the hallux

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


Decreased specific antibody response to protein-conjugated polysaccharide vaccine

A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination.


Milia

Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.


Pancreatic abscess

A circumscribed area of pus or necrotic debris in the parenchyma of the pancreas.


Abnormal digit morphology

A morphological abnormality of a digit, i.e., of a finger or toe.


Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration

A type of focal autonomic seizure characterized by changes in respiratory rate as the initial semiological feature.


Increased groin pigmentation with raindrop depigmentation


Fractured knee

A partial or complete breakage of the knee.


Impaired renal tubular reabsorption of sodium

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


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

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


Increased circulating trypsinogen

An abnormally high concentration of trypsinogen in the blood circulation.


aneurysm of sinus of Valsalva

Sinus of Valsalva aneurysm (SVA) is a rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.


Fractured middle phalanx of manual digit 5

A partial or complete breakage of the middle phalanx of manual digit 5.


Medullary peritubular capillaritis

Inflammation of the peritubular capillaries in the medulla of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells.


Tongue atrophy

Wasting of the tongue.


Hypothreoninemia

A decreased amount of threonine in the blood.


Renal interstitial eosinophil infiltration

Increased numbers of eosinophils in the interstitial tissues of the kidney.


Egg allergy

Hypersensitivity in form of an adverse immune reaction against eggs.


hamartoma

A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern.


telogen effluvium

A scalp hair loss condition characterized by excessive shedding of hair in the resting phase of growth, usually following a fever or major body stress.


Osteolytic defect of the distal phalanx of the thumb

Dissolution or degeneration of bone tissue of the distal phalanx of the thumb.


Perifollicular fibroma

Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle.


Total absence von Willebrand factor multimers

Complete absence of all von Willebrand factor multimers.


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


Increased incisura width

Breadth of the incisura from the anterior to posterior border greater than that observed in the average population.


secondary hypertrophic osteoarthropathy

Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)


Neoplasm of the outer ear

A tumor (abnormal growth of tissue) of the outer ear.


Abnormalities of placenta or umbilical cord

An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta).


Arcuate vein medial/intimal coagulative necrosis

A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.


Arcuate artery intima/media necrosis

Death of tissue in the inner or middle layer of the arcuate artery of the kidney.


Generalized-onset motor seizure

A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.


Tibial torsion

Twisted position of the tibia (shin bone) associated with pathological rotation of the leg.


Absent epiphysis of the proximal phalanx of the 3rd toe


Pachygyria with 5-10 mm cortical thickness

Pachygyria with a mildly thickend cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age.


thyroglossal duct cyst

A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck.


Intratubular hemoglobin casts

A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On H&E (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A.


Anomalous muscle bundle of the right ventricle

An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract.


Increased CSF arginine concentration

Abnormally increased levels of arginine in cerebrospinal fluid.


Abnormal arcuate vein morphology

Any structural anomaly of the arcuate vein. The arcuate veins cross traverse along the corticomedullary junction (at the border of the kideny cortex and medulla).


Bronchial breath sound

Bronchial breath sounds contain much higher frequency components than normal breath sounds due to alteration of the low pass filtering function of the alveoli, as occurs in consolidation. It is loud, hollow, and high pitch. Expiratory phase is longer than inspiratory phase with the inspiratory-expiratory ratio (I:E) changing from normal 3:1 to 1:2. There is distinct pause between inspiration and expiration due to absent alveolar phase. It is associated with whispering pectoriloquy.


Peg-shaped maxillary lateral incisors

A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter


Abnormal pulmonary fissure count

A deviation from the normal number of pulmonary fissures.


Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells.


Abnormal erythroid lineage cell morphology

An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes.


Renal interstitial edema

Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density.


Abnormality of thumb epiphysis

Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal.


Thyroid defect in oxidation and organification of iodide


Multiple small medullary renal cysts

The presence of many cysts in the medulla of the kidney.


osteochondrodysplasia

A term referring to disorders characterized by abnormalities in the development of bones and cartilage.


Renal arteriolar lumen cholesterol emboli

Needle-like or slit-like clefts within the interior space of arterioles of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.


Sparse scalp hair

Decreased number of hairs per unit area of skin of the scalp.


Decreased proportion of CD8-positive, alpha-beta TEMRA T cells

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


EMG: myopathic abnormalities

The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.


Focal impaired awareness motor seizure with dystonia

A focal motor seizure with dystonia characterized by impaired awareness at some point during the seizure.


Abnormal circulating dehydroepiandrosterone concentration

A deviation from the normal concentration of dehydroepiandrosterone in the circulation.


Impaired continence

Partial or total incontinence of bowel or bladder.


spastic diplegia

A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy.


Myocardial multinucleated giant cells

The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin.


Abnormality of nasal musculature

An abnormality of the muscles of the structure of the nose.


Supernumerary cusp

Additional cusps of a dental crown.


Agenesis of canine

Agenesis of canine tooth.


Curved 3rd toe phalanx

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


Small epiphysis of the middle phalanx of the 2nd finger


Fragmentation of the epiphyses of the 2nd toe


Abdominal colic

A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity.


Posterior plagiocephaly

Asymmetry of the posterior part of the skull.


Attached earlobe

Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward.


Pyknotic bone marrow neutrophils

Nuclear lobes of neutrophils in the bone marrow are thickened and condensed, and individual lobes are connected by unusually long chromatin filaments.


Extracranial internal carotid artery dissection

A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall.


Bullet-shaped middle phalanx of the 3rd toe

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


Neonatal electro-clinical autonomic seizure

Neonatal electro-clinical non-motor autonomic seizure is a type of neonatal electro-clinical seizure with predominant features of autonomic alterations, involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor, and thermoregulatory functions. May present as apnea.


Increased circulating IgM level

An abnormally increased level of immunoglobulin M in blood.


Palmar telangiectasia

The presence of telangiectases on the skin of palm of hand.


Mild expressive language delay

A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.


Triangular epiphyses of the middle phalanges of the hand


Slender proximal phalanx of finger

Reduced diameter of the proximal phalanx of finger.


Abnormal morphology of the cortex of the humerus

Any abnormality affecting the cortex of the humerus.


Anti-SUMO-activating enzyme subunit 1 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 1.


Velamentous cord insertion

Insertion of the umbilical cord into the chorio-amniotic membranes of the placenta.


Frey syndrome

An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with parotid neoplasms, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5)


Altman type II sacrococcygeal teratoma

A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component.


Generalized amyotrophy

Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.


Abnormality of redox activity

An abnormality of the processes that maintain the redox environment of a cell or compartment within a cell, that is, the balance between reduction and oxidation chemical reactions.


Abnormal metacarpophalangeal joint morphology

An anomaly of a metacarpophalangeal joint.


amniotic band syndrome

A group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies.


polyp of ureter

A polyp that involves the ureter.


Anti-H2B antibody positivity

The presence of autoantibodies in the blood circulation that react against histone H2B.


Cystic angiomatosis of bone

Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping.


Choking episodes

Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing.


Axillary freckling

The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.


Abnormal iliac wing morphology

An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally.


Achilles tendon contracture

A contracture of the Achilles tendon.


Symphalangism affecting the phalanges of the hand

Fusion of two or more phalangeal bones of the hand.


Thymus hyperplasia

Enlargement of the thymus.


Fragmentation of the epiphyses of the 5th finger

Fragmented appearance of the epiphyses of the 5th finger.


Reduced factor XIII activity

Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot.


Hyperplasia of the premaxilla

An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures.


Broad foot

A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.


Violet lip discoloration

An alteration of the color of the lip to take on a violet color. This term does not include cyanosis.


Naevus flammeus of the eyelid

Naevus flammeus localised in the skin of the eyelid.


Elevated circulating apolipoprotein A-II concentration

An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism.


Curved proximal phalanx of the thumb

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


Arcuate artery intima/media liquefactive necrosis

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


Dilatation of the ductus arteriosus

Ductus arteriosus aneurysm (DAA) is a saccular dilatation of the ductus arteriosus. DAA can be either congenital or acquired (e.g. as a complication of surgical closure of a patent ductus arteriosus). Although the majority of patients with congenital DAA are asymptomatic and have a benign course, severe complications, such as rupture or thromboembolism, can occur. DAA is likely to emerge in the third trimester from the aortic junction of the DA, extending towards its pulmonary end.


Osteolytic defects of the phalanges of the 5th finger

Dissolution or degeneration of bone tissue of the phalanges of the 5th finger.


neoplasm of middle ear

A neoplasm (disease) that involves the middle ear.


Reduced maximal inspiratory pressure

A decrease in the maximum amount of negative pressure a person can generate during an inhalation.


Violent behavior

Conduct and/or behavior, both verbal and non-verbal, including but not limited to verbal and/or physical aggression, attacks, threats, harassment, intimidation, and other disruptive behaviors in any form or through any medium, that cause or have the potential to cause a reasonable person to fear physical harm from any individual(s) or group(s) towards any person(s) or property. This is commonly defined as a violent act characterized by the use of physical force, anger, or sudden intense activity.


Gallbladder perforation

Rupture of the wall of the gallbladder.


Adversive status epilepticus

A type of focal motor status epilepticus characterized by continuous neck or body rotation and conjugate gaze deviation in a direction contralateral to the responsible epileptic focus. This includes some forms of tonic status epilepticus.


Nail dysplasia

The presence of developmental dysplasia of the nail.


Rib osteolysis

Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to a rib.


Increased susceptibility to fractures

An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.


Oculoclonic status epilepticus

A type of focal motor status epilepticus characterized by repetitive and rapid saccades, in association with epileptic discharges.


Long ear

Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear.


Degenerative liver disease

The presence of degenerative changes of the liver.


Amniotic constriction rings of arms

Amniotic constriction rings affecting the arms.


Abnormal lip pigmentation

Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal.


Peritoneal abscess

The presence of an abscess of the peritoneum.


Abnormality of the epiphyses of the 3rd toe


Hyperpigmented nodule

A nodule of the skin that exhibits an increased amount of pigmentation.


Asymmetrical gluteal crease

The presence of an asymmetrical gluteal crease, the horizontal crease formed by the inferior aspect of the buttocks and the posterior upper leg.


Decreased HDL3a concentration

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


Progressive extrapyramidal movement disorder


Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units).


Multifocal cerebral white matter abnormalities


Meckel diverticulum

A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction.


Ebstein anomaly

Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction.


Abnormality of the hepatic vasculature

An abnormality of the hepatic vasculature.


Pericardial lymphangiectasia

An abnormal dilatation of lymph vessels in the pericardium.


Proximal aortic arch hypoplasia

A type of aortic arch hypoplasia whereby the proximal aortic arch (arch proximal to the origin of the left subclavian artery) has a diameter of less than 60% of the diameter of the ascending aorta.


Atrophy/Degeneration affecting the brainstem


Hyperphalangy of the 2nd finger

An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy.