Abnormal pulse pressure

An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure.


Abnormal circulating vitamin A concentration

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

Concentration of vitamin A in the blood circulation outside limits of normal.


Persistent preoccupation with parts of objects

A type of abnormal interest characterized by a persistent and intense focus on parts of a toy/object. For example, affected individuals may spin the wheels on a toy car rather than drive the toy car.


Absent circulating B cells

Complete lack of mature B cells, that is, of B cells that have left the bone marrow.


Abnormal social imitation

A reduced ability to imitate a task or the movements of others.


Short proximal phalanx of the 2nd finger

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


Abnormal bronchoalveolar lavage fluid morphology

Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions.


Small thumb epiphysis

Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms.


Pectoralis hypoplasia

Underdevelopment of the pectoral muscle.


Abnormal liver parenchyma morphology

A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells.


Venous stenosis

Narrowing of a vein due to intimal hyperplasia and fibrosis.


Patchy sclerosis of the middle phalanx of the 2nd toe


Pseudoepiphysis of the distal phalanx of the 4th toe


Increased adipose tissue around the neck

An increased amount of subcutaneous fat tissue around the neck.


Addictive behavior

When an activity, substance, object, or behavior becomes a major focus of a person's life, excluding other activities, or has begun to harm the individual or others physically, mentally, or socially, it can be considered addictive behavior. A person can become addicted or compulsively engaged with anything.


Pontine T2 hypointensity

A darker than expected T2 signal on magnetic resonance imaging (MRI) of the pons.


Absent distal phalanx of the 2nd toe

Absence of distal phalanx of the second toe as a result of developmental aplasia.


Abnormal circulating cysteine concentration

An abnormality of a cysteine metabolic process.


Scrotal hypospadias

Hypospadias with location of the urethral meatus in the scrotum.


Bilineage myelodysplasia

Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic.


Abnormal vestibular function

An abnormality of the functioning of the vestibular apparatus.


ectodermal dysplasia syndrome

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

The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.


Localized hypoplasia of dental enamel

A localized form of developmental hypoplasia of the dental enamel.


Microform unilateral cleft lip

Notch, groove, or scar of the upper lip without noticeable rupture of the lip. Microforms are sometimes associated with disruption of the continuity of the orbicularis oris muscle.


Ivory epiphyses of the metacarpals

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


Functional abnormality of the middle ear

An abnormality of the function of the middle ear.


Anti-Hu antibody positivity

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


Hemoglobin Barts

Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues.


Lumbosacral hirsutism

Abnormally increased hair growth in the lumbosacral region.


Progressive hearing impairment

A progressive form of hearing impairment.


Focal aware motor seizure with paresis/paralysis

A focal motor seizure with paresis / paralysis characterized by retained awareness throughout the seizure.


Abnormal axial skeleton morphology

An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum.


Common carotid artery dissection

A separation (dissection) of the layers of the common carotid artery wall.


Poor head control

Difficulty to maintain correct position of the head while standing or sitting.


Abnormal third ventricle morphology

An abnormality of the third ventricle.


Aplasia/Hypoplasia of the middle phalanx of the 5th toe


erythromelalgia

A rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia, hypercholesterolemia, mushroom or mercury poisoning, and some autoimmune disorders.


Perifollicular hyperkeratosis

Increased amount of keratin (visible as white scales) surrounding hair follicles.


EEG with generalized low amplitude activity

An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


Narrow palate

Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).


EEG with generalized sharp slow waves

EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.


Anti-H3 antibody positivity

The presence of autoantibodies in the blood circulation that react against histone H3.


Elevated ciculating 5-hydroxymethyluracil concentration

An increased concentration of 5-hydroxymethyluracil in the blood circulation.


Abnormal great auricular nerve morphology

Any structural anomaly of a great auricular nerve.


Hyperketonemia

An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood.


Abnormal serum bile acid concentration

A deviation from the normal concentration of serum bile acid concentration.


Low-molecular-weight proteinuria

Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).


Genital blistering

The presence of one or more bullae on the skin of the genital region, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.


Increased circulating dehydroepiandrosterone concentration

Concentration of dehydroepiandrosterone in the blood circulation above the upper limit of normal.


Infantile encephalopathy

Encephalopathy with onset in the infantile period.


Abnormal cardiomyocyte connexin43 staining

Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases.


Limb dystonia

A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.


Coarctation in the transverse aortic arch

Narrowing or constriction of the aorta localized to the region of the transverse aortic arch.


Axial dystonia

A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles.


Abnormal carbon dioxide level in cord blood

Abnormal amount of carbon dioxide in umbilical cord blood


Increased circulating precipitin level

The presence of high titers of antigen-precipitating IgG in the serum.


Triangular shaped proximal phalanges of the toes


Elevated circulating tetracosanoic acid concentration

Elevated concentration of tetracosanoic acid (a C24 straight-chain saturated fatty acid) in the blood circulation.


Gonadal neoplasm

A tumor (abnormal growth of tissue) of a gonad.


bronchogenic cyst

Bronchogenic cysts (BCs) are congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum.


Aplastic pubic bone

A developmental defect characterized by lack of development of the pubis bone.


Sclerosis of the proximal phalanx of the 3rd toe

An elevation in bone density in the proximal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Abnormality of the epiphysis of the middle phalanx of the 5th toe


Tessier number 7 facial cleft

The temporozygomatic Number 7 cleft is found in both Treacher Collins syndrome and hemifacial microsomia. Soft tissue manifestations include macrostomia, malformations of the external and middle ear, temporalis muscle, variable involvement of the seventh cranial nerve (in hemifacial microsomia), and abnormalities of the preauricular hair in Treacher Collins syndrome. The skeletal cleft is through the pterygomaxillary junction, and vertical maxillary hypoplasia is present. In addition, abnormality of the mandibular ramus, coronoid, and condyle and absence of the zygomatic arch are typically present. A soft tissue furrow extends from the macrostomia laterally and superiorly across the cheek toward the preauricular hairline. The lower eyelids are intact. The anatomy of the external ear is normal, and there are no preauricular tags. Bony clefting is through the pterygomaxillary junction with hypoplasia of the alveolar process in the molar region, thereby producing a posterior open bite. The maxilla is hypoplastic, although the maxillary sinuses are symmetrically pneumatized. The hypoplastic zygomatic body arches upward, but then it takes a downward course and is severely malformed and displaced. The zygoma is continuous posteriorly with an apparently normal zygomatic process of the temporal bone. The mandibular condyle and coronoid process are hypoplastic and asymmetric. There is no antegonial notching of the mandible. Marked cranial base asymmetry, with tilting and asymmetric positioning of the temporomandibular articulations, is present. The anatomy of the sphenoid is abnormal, especially on the right where there is no recognizable medial or lateral pterygoid plate.


familial hemolytic anemia

A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies.


Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Selective tooth agenesis

Agenesis specifically affecting one of the classes incisor, premolar, or molar.


Global mesangial sclerosis

A generalized global (over 80%) increase of mesangial matrix that is present throughout the mesangial stalk (with or without associated mesangial hypercellularity).


Addictive sedative use

Misuse and/or abuse of sedative drugs.


dysgerminoma

A malignant germ cell tumor characterized by the presence of a monotonous primitive germ cell population. The neoplastic cells form aggregates and have an abundant pale cytoplasm and uniform nuclei. The aggregates of the germ cells are separated by fibrous septa which contain inflammatory cells, mostly T-lymphocytes. It arises primarily in the ovaries, but can occur both primarily and secondarily at other sites, particularly the central nervous system. It responds to chemotherapy and radiotherapy. Its prognosis is related to the tumor stage.


Fetal fifth finger clinodactyly

Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (PMID:16100637).


Lymphoid cholangitis

Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement.


Oxygen desaturation on exertion

Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa.


Sclerosis of the middle phalanx of the 3rd toe

An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Focal active colitis

Focal active colitis (FAC) is characterized by focal crypt damage caused by neutrophils. FAC is characterized by an inflammatory infiltrate consisting of intraepithelial neutrophils and/or neutrophils invading the lumen of the criptae, with no other microscopic alteration of the colonic mucosa and, in particular, without the presence of signs of chronic inflammation.


Hyperoxemia in cord blood

An abnormally high level of blood oxygen in the cord blood.


renal agenesis

Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively), accompanied by absent ureter(s).


Abnormality of the cervical spine

Any abnormality of the cervical vertebral column.


Ventricular flutter

A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance.


Multicentric ossification of proximal femoral epiphyses


Complete duplication of the first metacarpal bone.


Aplasia/Hypoplasia of the capital femoral epiphysis

Absence or underdevelopment of the proximal epiphysis of the femur.


selective IgA deficiency disease

A dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class A (IgA). It is the most common primary antibody deficiency. It may be inherited or the reversible sequela of infection or certain drugs. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Though affected persons may be asymptomatic, low levels of IgA will reduce the immune system's ability to combat infection where IgA is normally secreted, at mucosal surfaces. Selective IgA deficiency is seen in greater proportion among patients with autoimmune disorders.


Impaired renal tubular reabsorption of bicarbonate

Decreased renal tubular reabsorption of bicarbonate.


Short umbilical cord

Decreased length of the umbilical cord.


Focal T2 hypointense brainstem lesion

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


Loss of glomerular endothelial cell fenestration

Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm.


Abnormality of the lower limb

An abnormality of the leg.


Uterine cervix mass

A swelling or enlargment localized to the cervis of the uterus. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.


Impaired executive functioning

A disturbance of executive functioning, which is broadly defined as the set of abilities that allow for the planning, executing, monitoring, and self-correcting of goal-directed behavior while inhibiting task-irrelevant behavior. At least some degree of executive skill is needed to complete most cognitive tasks, and deficits in executive abilities are central to many clinical conditions, including fronto-temporal dementia.


Right ventricular outlet tract obstruction

An obstruction to the forward flow of blood in the outflow tract of the right ventricle.


alveolar soft part sarcoma

An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh.


Paraseptal emphysema

Paraseptal emphysema is characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa. This emphysema is characterized by subpleural and peribronchovascular regions of low attenuation separated by intact interlobular septa, sometimes associated with bullae.


Hypoplasia of the femoral head

Underdevelopment of the femoral head.


Abnormal circulating IgD level

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


Breast abscess

A circumscribed area of pus or necrotic debris in the breast.


Abnormality of central nervous system electrophysiology


Wind-swept deformity of the knees

The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other.


Redundant skin on fingers

Loose and sagging skin of the fingers.


Dysplastic distal radial epiphyses

Abnormally developed (dysplastic) distal epiphysis of the radius.


Right aortic arch with retroesophageal left subclavian artery


upper limb mesomelic dysplasia

This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity.


CSF autoimmune antibody positivity

The presence of an antibody in the cerebrospinal fluid (CSF) that is directed against the organism's own cells or tissues.


Abnormality of lipoprotein cholesterol concentration

An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood.


Recurrent hand flapping

A type of repetitive behavior in which the affected individual repeatedly waves the hands and/or arms rhythmically.


Lithoptysis

Expectoration (coughing up) of a broncholith. Broncholithiasis is defined as the presence of calculi in the tracheobronchial tree. It is a rare disease but can be characterized by clinical and radiological findings of a calcified lymph node eroding bronchial wall and opening into the bronchial lumen.


Thymic carcinoid tumor

A primary thymic neuroendocrine tumor.


Duplication of pancreatic duct

A congenital anomaly characterized by the presence of two separate pancreatic ducts.


Renal hamartoma

A disordered proliferation of mature tissues that are native to the kidneys.


Abnormal cerebellar vermis morphology

An anomaly of the vermis of cerebellum.


Delayed ability to stand

A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months.


Abnormal interlobular vein lumen morphology

Any structural anomaly located in the the inside space of the interlobular veins of the kidney.


slipped femoral capital epiphyses

A developmental deformity in which the metaphysis of the femur moves proximally and anteriorly away from femur head (epiphysis) at the upper growth plate. It is most common in male adolescents and is associated with a greater risk of early osteoarthritis of the hip.


Bone-in-a-bone appearance of forearm

A descriptive term for a forearm bone that appears to have an additional bone within it on radiography.


Anti-tissue transglutaminase antibody positivity

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


Spinal arachnoid cyst

Presence of arachnoid cysts of the spinal canal extradurally in the epidural space.


Decreased CSF albumin concentration

CSF albumin level is below the lower limit of normal.


Sclerosis of 2nd finger phalanx

An elevation in bone density in one or more phalanges of the second finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal

Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal.


Short nose

Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.


Femoral hernia

A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal.


Cutaneous lichen amyloidosis

Lichen amyloidosis presents with multiple localized or rarely generalized, hyperpigmented grouped papules with a predilection for the shins, calves, ankles, and dorsa of the feet and thighs.


Hypersegmentation of proximal phalanx of second finger

Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger.


Complete duplication of the middle phalanx of the 4th finger

Complete duplication of the middle phalanx of ring finger.


Absent earlobe

Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura.


Agenesis of pulmonary vessels

A developmental defect characterized by the lack of formation of the pulmonary blood vessels.


Abnormal pulmonary valve morphology

Any structural abnormality of the pulmonary valve.


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF155.


Aplasia/Hypoplasia of the ulna

Absence or underdevelopment of the ulna.


Complete duplication of thumb phalanx

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


Fragmentation of the epiphysis of the proximal phalanx of the thumb

Epiphysis of the proximal phalanx of the thumb having multiple bony fragments.


Focal motor seizure with paresis/paralysis

A focal motor seizure characterized by weakness or complete paralysis of a muscle or group of muscles as the initial semiological manifestation.


Premature eruption of permanent teeth

Premature tooth eruption of the permanent dentition.


Abnormality of circulating glucocorticoid level

An abnormality of the concentration of a glucocorticoid in the blood.


Respiratory insufficiency due to muscle weakness


Mesangial fibril deposition

Extracellular mesangial accumulation of slender proteinaceous fibers.


Flat acetabular roof

Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.


Triangular epiphysis of the proximal phalanx of the 4th toe


Decreased glucose-6-phosphate dehydrogenase level in blood

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


Abnormal dental enamel morphology

An abnormality of the dental enamel.


Champagne cork sign

Characteristic appearance of the chest and abdomen in the sagittal view on prenatal ultrasound when the chest is small and the abdomen protruding.


Enlarged semicircular canal

Increased size of the semicircular canal.


Prolonged bleeding following procedure

Prolonged or protracted bleeding following an invasive procedure or intervention.


Aphasic status epilepticus

Aphasic status epilepticus is a type of focal non-convulsive status epilepticus without coma characterized by a cognitive (rather than motor) language deficit.


Intermittent diarrhea

Repeated episodes of diarrhea separated by periods without diarrhea.


Thin long bone diaphyses

Decreased width of the diaphysis of long bones.


Slender build

Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.


Anti-LABD97 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against LABD97, which is structurally identical to a portion of the extracellular domain of BPAg2. BPAg2, a 180 kDa bullous pemphigoid antigen, is a transmembrane protein important for basement membrane cohesion.


perinatal asphyxia

A disorder caused by a lack of blood flow or gas exchange to or from the fetus in the period immediately before, during, or after the birth process.


Narrow iliac wing

Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).


Perioral erythema

Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth.


Absent ossification of capital femoral epiphysis

Lack of ossification of the proximal epiphysis of the femur.


Focal cognitive seizure with dysgraphia/agraphia

A focal cognitive seizure characterized by dysgraphia / agraphia as the initial semiological manifestation.


Prominent superior crus of antihelix

Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem.


Stiff tongue

Increased rigidity and reduced mobility of the tongue.


Endocrine-type tubular atrophy

A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes.


Reduced attention regulation

An abnormality in one's ability to control their attention towards a specific subject or task can include difficulties in changing or maintaining attention.


Impaired thrombin-induced platelet aggregation

Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics).


Right axis deviation

A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between +90 degrees and 180 degrees, or beyond +100 degrees if the adult range is used.


Short philtrum

Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.


Cerebellar vermis atrophy

Wasting (atrophy) of the vermis of cerebellum.


cutaneous mastocytosis

Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis.


Splanchnic vein thrombosis

The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity).


Clumping of elastic fibers in the dermis

Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis).


Bilateral multifocal epileptiform discharges

Epileptiform discharges being identified at multiple locations in both hemispheres.


Curved distal phalanx of the 4th toe

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


Focal aware motor seizure with dystonia

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


Predominantly epidermal neutrophilic infiltrate

Collection of neutrophils in the epidermis.


Jaw hyperreflexia

Increased intensity of muscle tendon reflexes in jaw.


Duplication of the distal phalanx of the 5th finger

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


Abnormal proportion of transitional B cells

A deviation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.


Abnormal cardiac atrium morphology

Any structural abnormality of a cardiac atrium.


Microform cleft of the upper lip

Notch, groove, or scar of the upper lip without noticeable rupture of the lip.


Abnormality of the pulmonary artery

An abnormality of the pulmonary artery.


Abnormal circulating mannose-binding protein concentration

Any deviation from the normal concentration of mannose-binding protein in the blood circulation.


Crimped helix

Linear, circumferential indentation in the convexity of the outer surface of the helix.


Anterior radial head dislocation

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


Wide proximal femoral metaphysis

Increased width of the proximal part of the shaft (metaphysis) of the femur.


Cortical radial artery intima/media coagulative necrosis

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


Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio

A reduced amount of testosterone relative in androstenedione in the blood circulation following administration of hCG (Human Chorionic Gonadotropin).


Sudden episodic apnea

Recurrent bouts of sudden, severe apnea that may be life-threatening.


Anemia of inadequate production

A kind of anemia characterized by inadequate production of erythrocytes.


Hypoplasia of the frontal lobes

Underdevelopment of the frontal lobe of the cerebrum.


Abnormal central motor function

An anomaly of the control or production of movement in the central nervous system.


Contracture of the metacarpophalangeal joint of the 5th finger

Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue.


Ventricular preexcitation with multiple accessory pathways

A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction.


Decreased RV/TLC ratio

An abnormally low ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining after maximal expiration and TLC is the total amount of air in the lungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography.


Fractured shoulder

A fracture or multiple fractures of the humerus (ball) or the glenoid (socket) of the shoulder joint.


uniparental disomy

A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders.


Wide nasal base

Increased distance between the attachments of the alae nasi to the face.


Splenic hemophagocytosis

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


Progressive extrapyramidal muscular rigidity

A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).


Reduced fetal long bone echogenicity

An abnormally decreased echogenicity of fetal long bones in a prenatal sonographic investigation. Ths finding is due to hypomineralization and can be seen in some disorders such as hypophosphatasia, osteogenesis imperfecta, and achondrogenesis.


dysautonomia

An acute or chronic disorder, affecting the sympathetic or parasympathetic nervous system. It can be primary, the result of central nervous system degeneration, or secondary due to diabetes or alcoholism. Patients with the chronic form of this disorder usually have a progressive clinical course and a poor prognosis.


Aplasia/Hypoplasia of the cerebellar vermis

Absence or underdevelopment of the vermis of cerebellum.


Fetal skin edema

A separation of skin in one or more regions of the body or even along the entire length of body wall (to a degree greater than gestational-age related norms) related to pathologically increased fluid accumulation in the subcutaneous tissue.


Type II atherosclerotic lesion

Type II atherosclerotic lesions include the fatty streak lesion, the first grossly visible lesion, and are characterized by layers of macrophage foam cells and lipid droplets within intimal smooth muscle cells and minimal coarse-grained particles and heterogeneous droplets of extracellular lipid.


Inferior cerebellar vermis hypoplasia

Underdevelopment of the inferior portion of the vermis of cerebellum.


Duplication of phalanx of 3rd finger

This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.


Abnormal middle phalanx morphology of the hand

An anomaly of middle phalanx of finger.


Reduced erythrocyte 2,3-diphosphoglycerate concentration

This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation.


Aplasia/Hypoplasia involving the corticospinal tracts


IgM heavy chain paraproteinemia

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


Abnormality of the bladder

An abnormality of the urinary bladder.


Hepatic lobular inflammation

Infiltration of inflammatory cells in lobules of the liver. A focus of lobular inflammation can be defined as two or more inflammatory cells (neutrophils, lymphocytes and other mononuclear cells, eosinophils and microgranulomas) within the lobule present within the sinusoids or surrounding injured hepatocytes (ballooned or apoptotic hepatocytes).


Hypoplasia of teeth

Developmental hypoplasia of teeth.


Ureteral hamartoma

A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the ureter.


Hypercystinemia

An increased amount of cystine in the blood.


Dry hair

Hair that lacks the lustre (shine or gleam) of normal hair.


Peripheral schwannoma

The presence of a peripheral schwannoma.


Reduced red cell pyruvate kinase level

Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate.


Ivory epiphyses of the proximal phalanges of the hand

Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


Deficit in phonologic short-term memory

Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory


Pneumocystis jirovecii pneumonia

An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing.


Renal cortical adenoma

The presence of an adenoma in the cortex of the kidney.


Oligodontia

The absence of six or more teeth from the normal series by a failure to develop.


Myelin-dependent gliosis

A type of gliosis that occurs in the vicinity of injured neurons.


testicular agenesis

An abnormality of XY sexual development characterized by the absence of both testes at birth.


Stippling of the epiphysis of the middle phalanx of the 3rd toe

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


Elevated circulating apolipoprotein C-III concentration

An increased concentration in blood of apolipoprotein C-III, a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons.


Abnormal epidermal morphology

An abnormality of the morphology of the epidermis.


Osteolytic defects of the distal phalanx of the 3rd toe


Severe viral infection

An unusually severe viral infection.


Focal emotional seizure with laughing

Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless'.


Abnormal posterior pituitary morphogenesis

An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis.


Abnormal choroid plexus morphology

An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells.


Reduced circulating erythropoietin concentration

Decreased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.


Small epiphysis of the distal phalanx of the 5th finger

Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms.


Knee extension contracture

A type of knee joint contracture in which the knee lacks full expected flexion, such that the upper and lower leg cannot be brought together.


Abnormality of skin physiology

Any abnormality of the physiological function of the skin.


Large intestinal polyposis

The presence of multiple polyps in the large intestine.


Compression-fractured lumbar vertebra

A fracture of the lumbar vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.


Abnormal hallux morphology

This term applies for all abnormalities of the big toe, also called hallux.


Duplication of the middle phalanx of the 4th finger

Partial or complete duplication of the middle phalanx of ring finger.


Abnormal number of teeth

The presence of an altered number of of teeth.


Abnormal drinking behavior

Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption.


Pyle disease

A bone dysplasia characterized by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning.


Abnormal nasopharyngeal adenoid morphology

Any abnormality of nasopharyngeal adenoids.


Partial duplication of the middle phalanx of the 5th finger

Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.


Ivory epiphysis of the middle phalanx of the 2nd finger


Abnormality of iron homeostasis

An abnormality of the homeostasis (concentration) of iron cation.


Ventricular preexcitation

An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway.


Duplication of the phalanges of the 5th toe

Partial or complete duplication of one or more phalanx of little toe.


Partial duplication of the 1st metatarsal

A developmental defect consisting in the duplication of part of the first metatarsal bone.


Bracket epiphyses of the proximal phalanges of the hand

An abnormality of the proximal phalanges of the hand 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.


Chronic rhinitis due to narrow nasal airway


histiocytoma

A mesenchymal tumor composed of fibroblastic and histiocytic cells.


Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT

A nodular pattern on pulmonary high-resolution computed tomography that displays a tree-in-bud pattern, representing centrilobular branching structures that resemble a budding tree.


Abnormal proportion of marginal zone B cells

A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.


Abnormality of neutrophil morphology in CSF

An abnormal form or size of neutrophils in the cerebrospinal fluid.


atrial septal defect, ostium primum type

Atrioventricular septal defect with communication at the atrial level only.


Partial duplication of the middle phalanx of the 4th finger

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


Anti-GM1 IgG antibody positivity

The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GM1.


Amyotrophy involving the shoulder musculature


Dextrotransposition of the great arteries

A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA.


Clubbing of toes

Terminal broadening of the toes (distal phalanges of the toes).


mononeuritis multiplex

A painful asymmetric asynchronous sensory and motor peripheral neuropathy involving isolated damage to at least 2 separate nerve areas; associated with (but not limited to) systemic disorders such as diabetes, vasculitis, amyloidosis, direct tumor involvement, polyarteritis nodosa, rheumatoid arthritis, systemic lupus erythematosus, and paraneoplastic syndromes. It also may be associated with Lyme disease, Wegener's granulomatosis, Sjogren syndrome, cryoglobulinemia, hypereosinophilia, temporal arteritis, scleroderma, sarcoidosis, leprosy, acute viral hepatitis A, and acquired immunodeficiency syndrome.


factor V deficiency

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


Fractured epiphysis of second metatarsal bone

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


Absence of epidermal lamellar bodies

Lack of lamellar bodies (LBs) inthe epidermis. LBs are specialized organelles that contain pro-barrier lipids imparting a fully lamellar internal structure, but also other cargoes such as enzymes (lipid metabolizing and proteolytic), enzyme inhibitors, and antimicrobial peptides.


Abnormal cerebral cortex morphology

Any structural abnormality of the cerebral cortex.


Anti-beta-2-Glycoprotein I IgG antibody positivity

Presence of IgG antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome.


Peripheral dysmyelination

Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination.


motor peripheral neuropathy

Inflammation or degeneration of the peripheral motor nerves.


Alveolar bone loss around teeth

A decrease in the amount of alveolar bone around the root of a tooth.


Anti-desmoplakin I antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-1.


Darwin notch of helix

Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix.


Intraventricular arachnoid cyst

An arachnoid cyst located within the ventricular system.


Silver-gray hair

Hypopigmented hair that appears silver-gray.


Abnormal circulating sex hormone concentration

Any deviation from the normal concentration of a sex hormone in the blood circulation


Irregular epiphyses of the distal phalanges of the hand


High serum calcifediol

An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3.


Microform bilateral cleft lip

Bilateral cleft lip in which the cleft lip on both sides are microform, i.e. a notch, groove, or scar without noticeable rupture of the lip.


Decreased CSF phenylalanine concentration

Abnormally decreased levels of phenylalanine in cerebrospinal fluid.


Vertebral hyperostosis

Excessive growth of the bones of the vertebral bodies.


Cardiomyocyte hypertrophy

An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes.


Lipid-laden lymph node macrophages

Lymph node with increased numbers of macrophages heavily laden with lipids.


Curved proximal phalanx of the hallux

A deviation from the normal straight form of the proximal phalanx of the big toe.


Decreased intestinal transit time

A reduction in the length of time required for food to pass through the intestines.


Upper limb amyotrophy

Muscular atrophy involving the muscles of the upper limbs.


Patent ductus arteriosus after birth at term

Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater.


Decreased circulating creatine kinase concentration

A reduction in the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood.


Cervical aortic arch

The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta.


adrenogenital syndrome

Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children.


Increased CSF methionine concentration

Concentration of methionine in the cerebrospinal fluid above the upper limit of normal.


Impaired nasal mucociliary clearance

An abnormally increased amount of time required to clear mucus (and substances contained in the mucus) from the nasal mucosa. The nasal mucociliary clearance (NMC) system functions to transport the mucous layer lining the nasal epithelium towards the naso pharynx by ciliary beating in a metachronous fashion at a frequency of 7-16 Hz. NMC depends upon two principal components: physicochemical qualities and quantities of mucus and the properties of cilia that propel it. NMC is considered to be representative of pulmonary clearance. normal NMC time is determined to be up to 20 minutes. Duration of 30 minutes is considered as the cutoff point that discriminates normal subjects from subjects with impaired NMC. NMC can be measured by determination of the transport time of markers that are placed on the nasal mucosa including saccharine, radioactive markers, and dyes.


Notched P wave

V-shaped cut (notch) in the middle of the P wave.


Bifid nail

A digit with two nails, with at least some soft tissue between them.


Anti-angiotensin-converting enzyme 2 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin-converting enzyme 2.


Ectopic thymus tissue

The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend.


Persistent cloaca

Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel.


Synotia

A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw.


Progressive distal muscular atrophy

Progressive muscular atrophy affecting muscles in the distal portions of the extremities.


EEG with occipital focal spike waves

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


Differential cyanosis

Differential degree of bluish discoloration between the upper and lower extremities.


malignant pericardial mesothelioma

A rare neoplasm of mesothelial origin that arises from the pericardium.


Increased urinary 1-methylhistidine

Increased concentration of 1-methylhistidine in the urine.


Cardiac conduction abnormality

Any anomaly of the progression of electrical impulses through the heart.


Recurrent coughing spasms

Repeated occurrence of episodes of coughing, with each episode consisting of at least five minutes of continuous coughing.


Dysgenesis of the hypothalamus

Structural abnormality of the hypothalamus related to defective development.


Hypoplasia of proximal radius

Proximal radial shortening owing to a congenital defect of development.


Abnormal endometrium morphology

An anomaly of the inner mucous membrane of the uterus.


Anomalous branches of internal carotid artery


Abnormality of the upper urinary tract

An abnormality of the upper urinary tract.


Maternal fever in pregnancy

The occurence of an elevated body temperature of the mother during pregnancy.


Increased spinal bone density

Increased bone density affecting the bones of the spine (vertebral column).


Cervical squamous cell papilloma

A benign tumor arising from the epithelial surface of the cervix and usually caused by Human Papillomavirus infection.


Descending aorta hypoplasia

Significant luminal narrowing of a long segment of the descending aorta.


Low femoral bone density

Reduced bone mineral density of the femur.


Complete duplication of the phalanges of the 2nd toe

Complete duplication of a phalanx of second toe.


Increased circulating IgD level

An abnormally increased level of immunoglobulin D in blood.


Dysplastic pulmonary valve

A congenital malformation of the pulmonary valve characterized by leaflet deformation.


3-5 finger syndactyly

Syndactyly with fusion of fingers three to five.


Global cerebellar dysplasia

A type of cerebellar dysplasia that affects the entire cerebellum.


Anti-thyroid-stimulating hormone receptor antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid-stimulating hormone.


Sensory seeking

Unusual interest in sensory aspects of the environment.


Shoulder girdle muscle atrophy

Amyotrophy affecting the muscles of the shoulder girdle.


Abnormality of the musculature of the upper limbs


Anterior bowing of long bones

An abnormal anterior curvature of a long bone.


Pappenheimer bodies

A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain).


Calf muscle hypoplasia

Underdevelopment of the muscuklature of the calf.


Bullet-shaped distal phalanx of the 2nd finger

Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected.


Aplasia of the olfactory tract

Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell.


testicular gonadoblastoma

A testicular mixed germ cell-sex cord-stromal tumor. It is usually associated with mixed gonadal dysgenesis and ambiguous genitalia. It is characterized by the presence of nests of large neoplastic germ cells and immature cells that resemble Sertoli cells.


Emotional hypersensitivity

Heightened emotional reactivity to environmental stimuli, including the emotions of others.


vesicoureteral reflux

Abnormal flow of urine from the urinary bladder back into the ureters.


ureter neoplasm

A benign or malignant neoplasm that affects the ureter.


Arcuate artery endoarterial neutrophil hypercellularity

A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils withinin the lumen of arcuate artery.


Insect bite allergy

Hypersensitivity in form of an adverse immune reaction against insect bites.


Uterine cervix myxoma

A myxoma (tumor of primitive connective tissue) localized to the the cervix of the uterus.


Permanent atrial fibrillation

Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent.


Anti-phospholipase A2 receptor antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the phospholipase A2 receptor.


Oral cavity bleeding

Recurrent or excessive bleeding from the mouth.


Elevated circulating thymine concentration

Concentration of the nucleobase thymine in the blood circulation above the normal range.


Increased proportion of transitional B cells

An elevation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.


J wave

The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point.


Distal clavicular thinning

Abnormally reduced diameter (cross section) of the clavicles that is limited to the distal region.


Focal aware hemifacial clonic seizure

Focal seizure characterized at onset by clonic movements affecting half of the face with retained awareness throughout.


Polymorphic focal epileptiform discharges

Focal epileptiform discharges of different shapes and frequencies.


Precordial pain

A type of chest pain that arises in the or under the left breast and often described as throbbing, stabbing, or burning, and lasting hours or longer. The pain may arise with or after effort, and may spread to the left arm or left side of the neck.


Increased level of hippuric acid in blood

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


Deep longitudinal plantar crease

Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot.


Abnormal vertebral artery morphology

An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system.


Onychotillomania

Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails.


Antimitochondrial antibody positivity

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


Dumbbell-shaped humerus

The humerus is shortened and displays flaring (widening) of the metaphyses.


stutter disorder

A speech disorder characterized by frequent sound or syllable repetitions, sound prolongations, or other dysfluencies that are inappropriate for the individual's age.


Fragmentation of the epiphysis of the middle phalanx of the 3rd finger

Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger.


annular pancreas

Annular pancreas is a distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum.


Aplasia/Hypoplasia of the 2nd metacarpal

Aplasia or Hypoplasia affecting the 2nd metacarpal.


Abnormal circulating apolipoprotein concentration

A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation.


Reticulonodular pattern on pulmonary HRCT

Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography.


Anti-NMDA receptor antibody positivity

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


Pericardial friction rub

A pericardial friction rub is a grating, to-and-fro sound that occurs in phase with the heart sounds.


Recurrent encephalopathy

Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections.


Abnormal renal medulla morphology

Any structural abnormality of the medulla of the kidney.


Functional abnormality of male internal genitalia


Struvite nephrolithiasis

Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones).


Thick hair

Increased density of hairs, i.e., and elevated number of hairs per unit area.


Glossoptosis

Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.


Abnormal number of dense granules

A deviation from the normal count of dense granules per thrombocyte.


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


Midline liver

Position of the liver across the middle of the body instead of being in its normal position to the right of the stomach.


Abnormal CSF phenylalanine concentration

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


Hyperorality

Hyperorality is a condition characterized by an excessive preoccupation with oral sensations and behaviors, such as chewing, sucking, biting, swallowing, and excessive mouthing of objects.


Increased CSF glutamine concentration

Abnormally increased levels of glutamine in cerebrospinal fluid.


Cone-shaped epiphysis of the proximal phalanx of the 5th toe


Anti-MAP1B antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against microtubule-associated protein 1B (MAP1B).


Aplasia of the proximal phalanx of the 2nd toe


Abnormal carotid artery morphology

Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches.


Short middle phalanx of the 5th toe

Developmental hypoplasia of the middle phalanx of the 5th toe.


Median cleft lip and palate

Cleft lip or palate affecting the midline region of the palate.


Decreased CSF/serum albumin ratio

A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.


Ivory epiphyses of the phalanges of the hand

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


Stippling of the epiphysis of the 1st metatarsal


Osteolysis involving bones of the lower limbs


Toe extensor amyotrophy

Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes.


Strawberry tongue

Inflammed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry.


Tryptophanuria

An increased concentration of tryptophan in the urine.


Cobblestone-like hyperkeratosis

The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones.


Decreased CSF threonine concentration

Abnormally decreased levels of threonine in cerebrospinal fluid.


Abnormal cervical curvature

The presence of an abnormal curvature of the cervical vertebral column.


Moderate hearing impairment

The presence of a moderate form of hearing impairment.


Invasive parasitic infection

A parasitic infection whereby the parasite invades (migrates through) tissues of the infected host.


popliteal cyst

A synovial cyst located in the back of the knee, in the popliteal space arising from the semimembranous bursa or the knee joint.


Anti-envoplakin antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against envoplakin, a cytoskeletal linker protein that links intermediate filaments to cellular junctions.


proximal spinal muscular atrophy

Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.


Abnormal proportion of naive T cells

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


Partial duplication of the phalanges of the 3rd finger

A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.


Abnormal aortic valve cusp morphology

Any structural anomaly of the aortic valve leaflets.


Elevated circulating glutaric acid concentration

An increased concentration of glutaric acid in the blood.


Hypoplasia of the vagina

Developmental hypoplasia of the vagina.


Abnormality of the distal tibial epiphysis


Abnormal medullary peritubular capillary morphology

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


Ambiguous genitalia, male

Ambiguous genitalia in an individual with XY genetic gender.


Right aortic arch with mirror image branching

The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery.


Abnormal hepatic artery morphology

Any structural anomaly of the hepatic artery or its branches.


Abnormal dentin morphology

Any abnormality of dentin.


Partial duplication of the distal phalanx of the 2nd toe

Partial duplication of the distal phalanx of second toe.


Horizontal crus of helix

An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly.


Pseudoepiphysis of the proximal phalanx of the thumb

A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb.


Pelvic kidney

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


Fractured proximal phalanx of digit 4

A partial or complete breakage of the proximal phalanx of digit 4.


Increased circulating ACTH level

An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.


Neonatal multifocal clonic seizure

Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups, which occurs at multiple sites.


Trigeminal anesthesia

Decreased or absent sensation in the distribution of the trigeminal nerve, which provides tactile, proprioceptive, and nociceptive sensation in the area of the face and mouth.


Anti-histidyl tRNA synthetase antibody positivity

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


Hyperextensibility of the knee

The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh).


Subaortic ventricular septal bulge

A localized hypertrophy of the subaortic segment of the ventricular septum has been frequently described in elderly persons, and variously termed subaortic ventricular septal bulge (VSB), sigmoid-shaped septum, localized or discrete upper septal hypertrophy.


Snout reflex

A type of primitive reflex that is elicited by tapping the upper lip lightly. The contraction of the muscles causes the mouth to resemble a snout.


Fractured carpal bone

A partial or complete breakage of the carpal bone.


Clinodactyly of the 5th toe

Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe).


Thyroid dysgenesis

A congenital condition characterized by hypoplasia, absence, or ectopic position of the thyroid gland. It is manifested with congenital hypoparathyroidism.


hemifacial hypertrophy

Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties.


Abnormality of amino acid metabolism

Abnormality of an amino acid metabolic process.


Lower limb phocomelia

Phocomelia affecting only the lower limbs.


Mesomelic leg shortening

Shortening of the middle parts of the leg in relation to the upper and terminal segments.


Osteochondromyxoma

A rare benign chondroid and osteoid matrix-producing neoplasm of bone characterized by extensive myxoid changes. OMX originate from bony cortices and have been observed in the nasal region, as well as the tibia and radius.


Agenesis of pineal gland

Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present.


Bullet-shaped proximal phalanx of the 2nd toe

An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Decreased circulating thyroxine-binding globulin concentration

A reduction from the normal concentration of thyroxine-binding globulin (TBG) in the blood circulation.


Reduced cerebral white matter volume

An abnormally low volume of the white matter of the brain.


Elevated left atrial pressure

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


1-5 finger syndactyly

Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand).


Anti-endomysial antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endomysial tissue transglutaminase 2 (tTG2).


Thickened nuchal skin fold

A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome.


Monoclonal elevation of IgG light chain

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


Purulent parotid gland drainage

Excretion of pus (purulent discharge) from the opening of the parotid duct.


Disturbance of facial expression

An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed.


Elevated circulating tetradecanoylcarnitine concentration

Elevated circulating tetradecanoyl concentration.


renovascular hypertension

High blood pressure secondary to renal artery stenosis.


Complete heart block with narrow QRS complexes

A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex.


Spindle-shaped finger

Swelling of the hand at the knuckles, that gives the fingers a spindle shape (i.e., a round stick with tapered end and a broader base).


Generalized hypoplasia of dental enamel

A generalized form of developmental hypoplasia of the dental enamel.


Abnormal circulating vitamin E concentration

Concentration of vitamin E in the blood circulation outside of normal limits.


Malalignment of the great toenail

A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges.


Visceral epithelial cell detachment

Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo'.


Fusion of the caudate and putamen

Abnormal joined appearance of the caudate and putamen with an absence of the anterior limb of the internal capsule.


Abnormal male internal genitalia morphology

An abnormality of the male internal genitalia.


Iliac artery aneurysm

Abnormal outpouching or sac-like dilatation in the iliac artery.


Osteolytic defects of the phalanges of the 4th finger

Osteolytic defects of the phalanges of the 4th (ring) finger.


Reduced insulin-like factor 3 level

Blood concentration of insulin-like factor 3 (ILF3) is below normal limits.


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

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


Increased anti-food allergen IgE antibody level

Increased level of IgE antibody against proteins found in foods, such as milk, egg, soy, wheat, peanut, treenut, fish, and shellfish.


Reduced pancreatic beta cells

Reduced number of beta cells in the pancreatic islets of Langerhans.


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


Low voltage EEG

EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz).


Elevated circulating guanidinoacetic acid concentration

Concentration of guanidinoacetic acid in the blood circulation is above the upper limit of normal.


Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena

A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure.


Fragmentation of the epiphyses of the 3rd toe


schneckenbecken dysplasia

Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.


Childhood-onset truncal obesity

Truncal obesity with onset during childhood, defined as between 2 and 10 years of age.


Abnormal response to insulin tolerance test

An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measured at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level.


Short stature

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).


Reduced volume of central subdivision of bed nucleus of stria terminalis

A diminished volume of the central part of the bed nucleus of the stria terminalis.


Premature loss of permanent teeth

Premature loss of the permanent teeth.


Abnormal cellular phenotype

An anomaly of cellular morphology or physiology.


Abnormal nasal dorsum morphology

An abnormality of the nasal dorsum, also known as the nasal ridge.


meningocele

A congenital abnormality in which the meninges protrude through a defect in the spinal column or the cranium.


Abnormal venous morphology

An anomaly of vein.


Increased CD4:CD8 ratio

An abnormal elevation of the relative proportion of CD4+ to CD8+ T cells.


Pseudoepiphysis of the distal phalanx of the 3rd toe


Fractured manual digit bone

A partial or complete breakage of the manual digit bone.


Diffuse cerebral calcification

Generalized deposition of calcium salts within the brain.


Focal EEG discharges with secondary generalization

Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp.


Telangiectases of the cheeks

Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks.


schizencephaly

Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.


Abnormal metaphyseal trabeculation

An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone.


Myocardial eosinophilic infiltration

An increase in the number of eosinophils in myocardial tissue.


Wrist ganglion

A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule.


Triphalangeal hallux

A hallux (big toe) with three phalanges in a single, proximo-distal axis.


Syntelencephaly

Syntelencephaly is a rare malformation that consists of an abnormal midline connection of the cerebral hemispheres in the posterior frontal and parietal regions, with interhemispheric separation of the basal forebrain, anterior frontal lobes, and occipital regions.


Renal hypoplasia/aplasia

Absence or underdevelopment of the kidney.


Aplasia of the inner ear

Absence of the inner ear due to a developmental defect.


Irregular epiphysis of the proximal phalanx of the 3rd finger

Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger.


Thickening of the lateral border of the scapula


Bone-in-a-bone appearance of carpal bones

The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones.


pineocytoma

Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis.


Elevated circulating long chain fatty acid concentration

Increased concentration of long-chain fatty acids in the blood circulation.


Bullet-shaped distal phalanx of the 5th toe

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


Abnormal temper tantrums

Temper tantrums are brief episodes of extreme, unpleasant, and sometimes aggressive behaviors in response to frustration or anger, which are a normal part of development in toddlers. Temper tantrums that occur more frequently in a given time and/or are more severe in symptomatology and/or longer in duration and/or inappropriate for the given age compared to a temper tantrum that naturally occurs as a part of the developmental process are classified as abnormal temper tantrums.


Renal arteriole medial hypertrophy

Increased thickness of middle layer of the arterioles of the kidney.


Fragmentation of the epiphysis of the middle phalanx of the 3rd toe


Short attention span

Reduced attention span characterized by distractibility and impulsivity.


Patchy sclerosis of middle phalanx of finger

Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand.


melanocytic nevus

A neoplasm composed of melanocytes that usually appears as a dark spot on the skin.


Short humerus

Underdevelopment of the humerus.


Contracture of the metacarpophalangeal joint of the 4th finger

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


Interrupted aortic arch type A

Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus.


Abnormal proportion of unswitched memory B cells

A deviation of the normal proportion of unswitched memory B cells in circulation relative to the total number of B cells.


Abnormal circulating calcium-phosphate regulating hormone concentration

Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium.


congenital genu recurvatum

An abnormal alignment of the knee backwards that is due to a deformity in the knee joint.


Genital neoplasm

A tumor (abnormal growth of tissue) of the genital system.


Pseudoepiphysis of the 3rd metacarpal

The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.


Decreased circulating ACTH concentration

The concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), is below the lower limit of normal in the blood circulation.


Cerebral granulomatosis

Cerebral inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.


Short term memory impairment

A deficit in the retention of pieces of information (memory chunks) for a relatively short time (usually up to 30 seconds).


Psychic epileptic aura

Aura with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events.


isolated growth hormone deficiency type IA

An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material basis in null mutations in the GH1 gene on chromosome 17q23.3.


Subpleural honeycombing

So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space.


Uplifted earlobe

An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly.


Monotonic speech

A speech pattern characterized by an abnormal lack of tone in the voice.


Decreased proportion of naive CD8 T cells

An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells.


Episodic quadriplegia

Intermittent episodes of paralysis of all four limbs.


Arcuate artery intima/media arteriosclerosis

Thickening of the intima of the arcuate arteries of the kidney with fibrosis and/or duplication of the elastic lamina.


Abnormal buccal mucosa morphology

An abnormality of a buccal mucosa.


Grade IV preterm intraventricular hemorrhage

Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension.


Recurrent hypoglycemia

Recurrent episodes of decreased concentration of glucose in the blood.


Osteolytic defects of the proximal phalanx of the hallux


Hypotriglyceridemia

An decrease in the level of triglycerides in the blood.


focal hand dystonia

A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions.


Aplasia of the proximal phalanx of the 2nd finger

Absence of the proximal phalanx of the 2nd finger.


Anti-transglutaminase 6 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transglutaminase 6.


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

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


Abnormality of neutrophils

A neutrophil abnormality.


Abnormal posterior cranial fossa morphology

An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum.


Decreased Achilles reflex

Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed.


Dysplastic iliac wing

A general term that describes a congenital defect in the iliac wing resulting from abnormal development.


Elevated dermal desmosine content

An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin.


Tented philtrum

Prominence of a triangular soft tissue area of the philtrum with the apex to the columella.


Plantar crease between first and second toes

The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe.


Double inlet to single ventricle with two atrioventricular valves


Focal sensory seizure with vestibular features

A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation as its first clinical manifestation.


Aplasia/Hypoplasia involving the shoulder musculature

Absence or underdevelopment of the muscles of the shoulder.


Vivid hallucination

Perceptual experiences that are vivid, intense, and sensory in nature occur in the absence of corresponding stimuli from the external environment.


Lumbar hemivertebrae

Absence of one half of the vertebral body in the lumbar spine.


Prolinuria

Level of proline in the urine anove the upper limit of normal.


Severe postnatal growth retardation

Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms.


Small toe

Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual.


Short middle phalanx of the 2nd finger

Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger.


Nonossified fifth metatarsal

The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible.


Elevated urinary S-sulfocysteine level

Level of S-sulfocysteine high in urine above the upper limit of normal.


Hyperoxemia

An abnormally high level of blood oxygen.


Abnormal CSF ornithine concentration

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


Proximal muscle weakness in upper limbs

A lack of strength of the proximal muscles of the arms.


Triangular shaped distal phalanx of the hallux


Radial bowing

A bending or abnormal curvature of the radius.


Abnormal bone ossification

Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.


Cortical radial artery intima/media multilamellation

Myointimal hyperplasia of the inner and middle layer of the cortical radial artery (also known as the interlobular artery) of the kidney, arranged in multiple concentric layers.


Absent keratohyalin granules

Lack of keratohyalin granules, which are normally present in the stratum granulosum of the epidermal layer of the skin.


Lafora bodies

An intraneuronal inclusion body composed of acid mucopolysaccharides.


Uric acid urolithiasis independent of gout


Fractured proximal phalanx of manual digit 1

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


Gastric pseudomass

At US examination from the second trimester onward, the fetal stomach appears as a uniformly anechoic, sharply circumscribed round structure in the left upper quadrant. However, debris is commonly visualized in the stomach, forming a pseudomass.


Ectopic accessory finger-like appendage

In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200).


Perilobar nephrogenic rest

A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe.


Abnormal terminal:vellus ratio

A deviation from the normal proportion of terminal to vellus hairs.


Abnormality of vitamin metabolism

An anomaly in the metabolism of a vitamin.


EEG with periodic abnormalities

Periodically recurring abnormalities in the EEG.


Cerebral hypoplasia

Underdevelopment of the cerebrum.


Perianal abscess

The presence of an abscess located around the anus.


Sclerosis of the proximal phalanx of the 4th finger


Early onset absence seizures

Typical absence seizures starting before the age of 4 years.


Afebrile (less than 38.0 degrees Celcius), brief, and generalized seizures accompanying gastroenteritis without an alternative cause.


Neutrophilia in presence of infection

An increased number of neutrophils circulating in the blood during an infection, such as with a bacteria, virus or fungus.


Perilobar nephroblastomatosis

Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar).


Occasional neurofibromas

Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1.


Abnormal circulating purine concentration

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


Cephalohematoma

Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum.


Mesangial microfibril deposition

Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins.


Decreased adipose tissue around neck

Reduced amount of adipose tissue in the region of the neck.


dentin dysplasia type I

Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD) characterized by sharp conical short roots or rootless teeth.


Cerebral hyaline bodies

Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance.


Abnormal CSF protein concentration

Any deviation from the normal range of a protein concentration in the cerebrospinal fluid.


Abnormal germ cell morphology

Any structural anomaly of a reproductive cell.


Patchy palmoplantar hyperkeratosis

A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected.


Type V atherosclerotic lesion

Type V lesions are defined as lesions in which prominent new fibrous connective tissue has formed. When the new tissue is part of a lesion with a lipid core (type IV), this type of morphology may be referred to as fibroatheroma or type Va lesion. A type V lesion in which the lipid core and other parts of the lesion are calcified may be referred to as type Vb. A type V lesion in which a lipid core is absent and lipid in general is minimal may be referred to as type Vc. With these lesions, arteries are variously narrowed, generally more than with type IV. Importantly, as with type IV lesions, type V lesions may develop fissures, hematoma, and/or thrombus (type VI lesion), and for this reason too they are clinically relevant.


Abnormal circulating creatinine concentration

An abnormal concentration of creatinine in the blood.


Intracranial neurenteric cyst

A neurenteric cyst located within the skull.


Irregular epiphyses of the 2nd finger

Irregular radiographic opacity of the epiphyses of the 2nd finger.


Toe pain

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


Adrenal gland agenesis

Absent development of the adrenal gland.


Squared superior portion of helix

Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual.


Nasal mucosa telangiectasia

Telangiectasia of the nasal mucosa.


Anti-alanyl-tRNA synthetase antibody positivity

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


triatrial heart

A rare congenital abnormality of the heart characterized by the presence of three atria. The right or left atrium is divided into two parts by fibromuscular tissue or a membrane. It may be associated with other heart congenital abnormalities.


Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex.


cranial nerve palsy

Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness.


Contracture of the distal interphalangeal joint of the 4th toe

The distal interphalangeal joint of the 4th toe cannot be straightened actively or passively.


Tubulointerstitial fibrosis

A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial lfibrosis and/or Renal tubular atrophy.


EEG with continuous slow activity

EEG showing diffuse slowing without interruption.


Prominent digit pad

A soft tissue prominence of the ventral aspects of the fingertips or toe tips.


Abnormal pancreatic duct morphology

Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum.


Abnormality of the epiphysis of the middle phalanx of the 5th finger

Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.


Trichoschisis

Transverse fractures through the hair shafts (trichoschisis). Trichoschisis is characterized by a sharp transverse fracture of the hair shaft.


Prominent proximal interphalangeal joints


Enlarged epiphyses of the phalanges of the hand

Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.


EEG with photoparoxysmal response grade II

Occurence of epileptiform discharges in occipital and central regions during photic stimulation.


Acral blistering

Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet).


Abnormal proportion of CD8-positive T cells

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


Partial right sided absence of pericardium

A congenital anomaly with lack of part of the pericardium on the righthand side of the heart.


Abnormal limb epiphysis morphology

An anomaly of one or more epiphyses of a limb.


1-4 finger syndactyly

Syndactyly with fusion of fingers one to four.


Spinal epidural abscess

Spinal epidural abscess (SEA) is caused by a suppurative infection in the epidural space. The mass effect of the abscess can compress and reduce blood flow to the spinal cord, conus medullaris, or cauda equina.


Aplasia of the distal phalanx of the hallux


Focal aware emotional seizure with agitation

Focal emotional seizure with agitation in which awareness is retained throughout.


Absent bronchoalveolar dimeric surfactant-protein B

Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid.


Increased circulating isovaleric acid concentration

Increased concentration of isovaleric acid, a C5, branched-chain saturated fatty acid, in the blood concentration.


Clouston syndrome

Clouston syndrome (or hidrotic ectodermal dysplasia) is characterized by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.


Gallbladder wall thickening

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


orchitis

Inflammation of one or both testes due to viral or bacterial infections. Signs and symptoms include enlargement or tenderness of the affected testis, inguinal lymphadenopathy, blood in the semen, and pain during urination, intercourse, or ejaculation.


Sclerosis of the distal phalanx of the 3rd toe

An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Abnormal uterus morphology

Any anomaly of the structure of the uterus


Abnormal circulating albumin concentration

Deviation from normal concentration of albumin in the blood.


Splenogonadal fusion

Joining of the spleen and a gonad during embryological development.


Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia

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


Exstrophy

Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall.


Fixation-off epileptiform discharges

Fixation off sensitivity (FOS) is characterized by posterior or generalized epileptiform discharges that consistently occur with conditions that eliminate central vision, such as closed eyes, complete darkness, modified Ganzfeld stimulation (using a large white surface without visual cues), and Frenzel lenses. The FOS electroencephalogram (EEG) pattern usually consists of spikes/polyspikes and waves localized in occipital regions (bilateral or unilateral) or generalized discharges. It is usually inhibited by fixation of gaze, observing patterns, or intermittent photic stimulation (e.g., flashing light or patterns used as stimuli during the recording of the EEG).


argininosuccinic aciduria

Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.


Ivory epiphyses of the 4th finger

Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Abnormal hypnopompia

Abnormal transition of consciousness from sleeping to wakefulness.


Partial duplication of the proximal phalanx of the 3rd toe

Partial duplication of proximal phalanx of third toe.


Anti-H4 antibody positivity

The presence of autoantibodies in the blood circulation that react against histone H4.


Fractured epiphysis of fifth metacarpal bone

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


Abnormality of neuronal migration

An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain.


Triangular shaped middle phalanx of the 3rd finger

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