acanthosis nigricans

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


Abnormality of the face

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

description: An abnormality of the face.


Anti-GD1a antibody positivity

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


Incomplete right bundle branch block

description: Right bundle branch block (RBBB) represents an abnormality in the intraventricular electrical conduction system of the human heart, generating enlarged QRS and modified vectors on the electrocardiogram (ECG). Incomplete RBBB (IRBBB) is defined by (i) QRS duration between 110 and 120 ms in adults; (ii) rsr, rsR, or rSR in leads V1 or V2. The R or r deflection is usually wider than the initial R wave. In a minority of patients, a wide and often notched R wave pattern may be seen in leads V1 and/or V2; (iii) S wave of greater duration than R wave or greater than 40 ms in leads I and V6 in adults; and (iv) Normal R peak time in leads V5 and V6 but greater than 50 ms in lead V1. The first 3 criteria should be present to make the diagnosis. When a pure dominant R wave with or without a notch is present in V1, criterion 4 should be satisfied.


sweat gland disorder

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

description: A disease involving the sweat gland.


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

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


Hydrocele testis

description: Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.


name: Abnormal cortical radial artery intima/media morphology

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


name: Aplasia/Hypoplasia of the pyramidal tract


Luse bodies

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


Pseudo-chilblain

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


Barking cough

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


Increased circulating IgA level

description: An abnormally increased level of immunoglobulin A in blood.


Glomerular fibrinoid necrosis

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


Dilated fourth ventricle

description: An abnormal dilatation of the fourth cerebral ventricle.


name: Abnormal phytanic acid:pristanic acid ratio

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


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


U wave inversion

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


preaxial hallucal polydactyly

description: Duplication of all or part of the first ray.


Translamellar aortic medial fibrosis

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


Comedo

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


name: Hemosiderin-laden macrophages in bronchoalveolar fluid

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


Glomerular C3 deposition

description: The presence of complement 3 deposits in the glomerulus.


name: Increased serine family amino acid in urine

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


Abnormal circulating IgE level

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


Fetal bowel dilatation

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


name: Pallor of dorsal columns of the spinal cord

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


Cutaneous finger syndactyly

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


Decreased male libido

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


Type I atherosclerotic lesion

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


Abnormal pancreatic acinus morphology

description: Structural anomal of pancreatic acinus.


name: Decreased circulating beta-2-microglobulin level

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


Pancreatic dysplasia

description: The presence of developmental dysplasia of the pancreas.


Tufted hairs

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


name: Abnormal circulating homocysteine concentration

description: An abnormality of a homocysteine metabolic process.


perinephritis

description: Inflammation of the connective and adipose tissues surrounding the kidney.


name: Saccular descending thoracic aortic aneurysm

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


Renal tubular viral cytopathic changes

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


name: Effort-induced polymorphic ventricular tachycardia

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


name: Elevated CSF argininosuccinic acid concentration

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


Abnormal breast physiology

description: Any anomaly of the function of the breast.


name: Increased glutamine family amino acid level in urine

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


Dysdiadochokinesis

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


Chronic decreased circulating total IgG

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


name: Metacarpophalangeal thumb joint contracture

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


Inspiratory crackles

description: Crackles that are heard during the inspiratory phase.


Finger joint contracture

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


Decreased CSF alanine concentration

description: Abnormally decreased levels of alanine in cerebrospinal fluid.


Cerebellar edema

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


Late chronotype

description: A tendency towards waking up very late in the morning and staying up late at night.


Thunderclap headache

description: Severe head pain with sudden onset, reaching its maximum intensity in less than one minute and lasting from one hour to ten days.


Plant based food allergy

description: Hypersensitivity in form of an adverse immune reaction against plant based food allergens.


EEG with central sharp slow waves

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


name: Abnormal spatial orientation of the cardiac segments

description: Abnormality of the spatial relationship of the cardiac segments to other components of the heart.


name: Elevated urinary N-methylhistamine level

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


Spinal cord xanthomatosis

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


Mucoid diarrhea

description: Passage of an increased number of stools containing mucus, a thick fluid substance secreted by mucous membranes.


name: Increased level of 3-hydroxy-3-methylglutaric acid in urine

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


Abnormality of mouth shape

description: An abnormality of the outline, configuration, or contour of the mouth.


Urinary bladder mass

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


name: Elevated CSF apolipoprotein B concentration

description: The concentration of apolipoprotein B in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Spondylolisthesis at L5-S1

description: Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1).


Increased RIPA

description: Increased platelet agglutination in response to low-dose ristocetin


Abnormal epididymis morphology

description: An abnormality of the epididymis.


Fractured humerus

description: A partial or complete breakage of the humerus.


Epsilon wave

description: An electric signal of depolarization observed between the end of the QRS complex and the beginning of the T wave.


name: Abnormal morphology of the musculature of the neck

description: An abnormality of the neck musculature.


Erythematous plaque

description: A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation.


Abnormal hyoglossus muscle morphology

description: An abnormality of a hyoglossus muscle.


Impacted tooth

description: A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth).


4-5 toe syndactyly

description: Syndactyly with fusion of toes four and five.


Right-to-left shunt

description: Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left.


Sex reversal

description: Development of the reproductive system is inconsistent with the chromosomal sex.


Abnormal ureter morphology

description: A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.


Aplasia/Hypoplasia of the uvula

description: Underdevelopment or absence of the uvula.


Diplomyelia

description: Duplication of the spinal cord.


Angiofibromas

description: Angiofibroma consist of many often dilated vessels.


Anti-Yo antibody positivity

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


Fetal pleural effusion

description: Fetal pleural effusion is the accumulation of excess fluid in the layers of tissue (pleura) lining the lungs and wall of the chest. It may be primary, also termed hydrothorax, occurring as an isolated finding or it may be secondary, most commonly resulting from non-immune hydrops.


name: Intraluminal thrombi within interlobular veins

description: Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen of the interlobular veins of the kidney.


Intrapulmonary shunt

description: Blood flow through a region of the lung in which little or no ventilation takes place, resulting in reduced oxygenation of the blood leaving the lungs.


name: Focal impaired awareness cognitive seizure with hallucination

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


diphallia

description: Two penile structures, separated from the tip to the base of the shaft.


Abnormal genital pigmentation

description: An abnormal pigmentation pattern of the external genitalia.


Abnormal urine citrate concentration

description: A deviation from normal of the concentration of citrate(3-) in the urine.


Fractured bone of jaw

description: A partial or complete breakage of the bone of jaw.


name: Osteolytic defect of the proximal toe phalanx

description: Dissolution or degeneration of bone tissue of the proximal toe phalanx.


1-3 finger syndactyly

description: Syndactyly with fusion of fingers one to three.


Recurrent cutaneous abscess formation

description: An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses.


Skewfoot

description: A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occur under the metatarsal heads and the head of the plantar-flexed talus.


name: EEG with frontal epileptiform discharges

description: Focal epileptiform EEG discharges recorded in the frontal region.


Intratubular dihydroxyadenuria crystals

description: Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver.


Vesicular eruption

description: A type of acute-onset skin rash characterized by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. The fluid contained in a vesicle may be clear, serous, or hemorrhagic.


Deep philtrum

description: Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.


Anti-Mi2 antibody positivity

description: The presence of autoantibodies in the blood circulation that react against the Mi-2 antigen.


Fibrous crescent

description: A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference.


Abnormal play

description: An abnormality in a child's ability play.


Elbow contracture

description: A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.


anterograde amnesia

description: Loss of the ability to form new memories beyond a certain point in time. This condition may be organic or psychogenic in origin. Organically induced anterograde amnesia may follow craniocerebral trauma; seizures; anoxia; and other conditions which adversely affect neural structures associated with memory formation (e.g., the hippocampus; fornix (brain); mammillary bodies; and anterior thalamic nuclei). (From Memory 1997 Jan-Mar;5(1-2):49-71)


Bloody bronchoalveolar lavage fluid

description: Return of lavage fluid characteristically has a bloody appearance in pulmonary alveolar hemorrhage. This is due to admixture of blood, which typically increases with each consecutive lavage portion. Microscopically erythrocytes can be seen. After 24 to 48 h macrophages contain phagocytosed erythrocytes, indicating previous bleeding.


name: Abnormality of the temporomandibular joint

description: An anomaly of the temporomandibular joint.


name: Interlobular vein intima/media venulitis

description: Inflammation of the interlobular veins of the kidney which may affect only the intima or may be transmural.


Odynophagia

description: Pain experienced with swallowing.


Abnormal neck morphology

description: Any structural anomaly of the neck region.


Positive hydrogen breath test

description: Abnormally elevated quantiy of hydrogen measured by a hydrogen breath test (HBT). HBTs administer substrates such as glucose, lactulose, lactose and fructose and subsequently measure hydrogen exhaled in the breath using a gas chromatograph.


Dystrophic toenail

description: Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate.


Focal cortical dysplasia type IIIa

description: A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organization (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis).


Mesoaxial hand polydactyly

description: The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly.


name: Elevated urine 2-trans,4-cis-decadienoylcarnitine level

description: The amount of 2-trans,4-cis-decadienoylcarnitine in the urine, normalized for urine concentration, is above the upper limit of normal.


Abnormal ganglion morphology

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


Increased serum pyruvate

description: An increased concentration of pyruvate in the blood.


Megacystis

description: Dilatation of the bladder postnatally.


Increased pulmonary vascular resistance

description: Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units.


Coprolalia

description: Coprolalia denotes the involuntary utterance of obscenities. Intent is an important classifier in coprolalic behaviors, and unfortunately it remains unclear how to objectively distinguish coprolalia from common swearing.


Urinary bladder hamartoma

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


Sclerosis of toe phalanx

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


Prolonged QT interval

description: Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).


Brain fog

description: Brain fog is a type of transient cognitive dysfunction that comprises a constellation of symptoms that impair intellectual functioning to a level that interferes with daily activities, commonly including forgetfulness, mental slowness, difficulty thinking or focusing, a perceived slowing of mental processing speed, inability to find the right words, a sensation that the mind went blank or is "cloudy". Brain fog tends to recur and may be triggered by factors such as physical fatigue, lack of sleep, and prolonged standing or may appear to occur spontaneously.


Abnormal rituals

description: Insistence on rituals which are self-imposed on a person's environment including directing the behavior of those around them.


Vocal tremor

description: A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability.


name: Facial expressions not directed to others


Abnormal blood gas level

description: An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood.


Extremely preterm birth

description: Birth before 28 completed weeks of gestation (up to and including 27 weeks and 6 days of gestation).


Abnormality of the falx cerebri

description: An abnormality of the Falx cerebri.


name: Generalized hypotonia due to defect at the neuromuscular junction


Gonadotropin deficiency

description: A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH).


Abnormality of the axillary hair

description: Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty.


Fractures of the long bones

description: An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna).


Abnormal HDL subfraction concentration

description: An abnormal concentration of an HDL subfraction, which can be determined by methods such as electrophoresis followed by densitometric determination of the areas under the peaks. Large HDL subfractions are defined as HDL1 (greater than 12 nm), HDL2b (9.7-12 nm), and HDL2a (8.8-9.69 nm). Small HDL subfractions are defined as HDL3a (8.2-8.79 nm), HDL3b (7.8-8.19 nm), and HDL3c (7.20-7.79 nm).


Abnormal digestive system morphology

description: A structural anomaly of the digestive system.


Time agnosia

description: The inability to perceive the passage of time is usually due to a disorder involving the temporal area of the brain.


Hypoplasia of the gallbladder

description: The presence of a hypoplastic gallbladder.


name: Decreased proportion of transitional B cells

description: A reduction 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.


Addictive methamphetamine use

description: Addiction to methamphetamine.


name: Elevated circulating myoglobin concentration

description: An increased blood concentration of myoglobin.


name: Elevated vascular endothelial growth factor level

description: Increased blood concentration of vascular endothelial growth factor (VEGF).


Hyperamylasemia

description: Increased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.


name: Decreased circulating calcitonin concentration

description: Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation below the lower limit of normal.


Separation insecurity

description: Fears of rejection by and/or separation from significant others are associated with fears of excessive dependency and complete loss of autonomy.


name: Uni- and bilateral multifocal epileptiform discharges

description: Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere.


patent urachus

description: Patent urachus is a type of congenital urachal anomaly characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus.


Dental enamel pits

description: The presence of small depressions in the dental enamel.


Elevated urine kynurenine level

description: An abnormally increased amount of kynurenine in the urine.


Excessive daytime somnolence

description: A state of abnormally strong desire for sleep during the daytime.


Interrupted aortic arch type C

description: Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries.


name: Abnormal gastrointestinal tract morphology

description: Abnormal structure of the gastrointestinal tract.


Wrist drop

description: A condition in which the affected individual cannot extend the wrist, which hangs flaccidly.


Truncus arteriosus

description: A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.


Reticular pattern on pulmonary HRCT

description: On pulmonary high-resolution computed tomography, reticular pattern is characterized by innumerable interlacing shadows suggesting a mesh.


Squawks

description: Squawks are short inspiratory wheezes of less than 200 ms duration and are also known as squeaks. Acoustic analysis shows the fundamental frequency varying between 200 and 300 Hz. Squawks usually occur in late inspiration and are often preceded by late inspiratory crackles.


name: Fractured distal epiphysis of distal phalanx of manual digit 1

description: A partial or complete breakage of the distal epiphysis of distal phalanx of manual digit 1.


name: Arteriovenous malformation of the maxilla

description: An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the maxilla.


Decreased circulating IgG3 level

description: A reduction in immunoglobulin levels of the IgG3 subclass in the blood circulation.


Axillary epidermoid cyst

description: An epidermoid cyst in the armpit.


Esophageal hemangioma

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


name: Elevated circulating proinsulin concentration

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


Impaired distal proprioception

description: A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints.


name: Glomerular endocapillary leukocyte hypercellularity

description: Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries.


Abnormal cardiac atrial physiology

description: An abnormality of the function of the cardiac atria.


Anti-H1 antibody positivity

description: The presence of autoantibodies in the blood circulation that react against histone H1.


Nummular eczema

description: A type of eczema characterized by pruritic coin-shaped patches on the skin. Nummular eczema most commonly occurs on the extremities, particularly the legs, but may occur anywhere on the trunk, hands, or feet


name: Supraventricular tachycardia with a manifest accessory pathway


Granuloma

description: A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis.


Pulmonary artery adventitial fibrosis

description: Increased amount of collagen, proteoglycans, and other extracellular matrix proteins resulting in scarring and thickening in the adventia of the pulmonary arterial tree.


primary cutis verticis gyrata

description: Cutis verticis gyrata (CVG) is a progressive cutaneous disorder predominantly affecting males and characterized by hypertrophy and thickening of the skin of the scalp forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. CG can be isolated (essential CVG) or associated with other abnormalities such as intellectual deficit, epilepsy, cataract, blindness, and deafness (non essential CVG).


name: Sclerosis of the middle phalanx of the 2nd finger


High urinary gonadotropin level

description: An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism.


Bowel diverticulosis

description: The presence of multiple diverticula of the intestine.


Abnormal CSF metabolite concentration

description: Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid.


Necrolytic migratory erythema

description: Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution.


Abdominal wall defect

description: An incomplete closure of the abdominal wall.


T-shaped uterus

description: An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging.


brachydactyly type A5

description: Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb.


name: Stippling of the epiphysis of the distal phalanx of the thumb

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb.


name: Facial expressions that do not match the context

description: Production of facial expressions that are misaligned with the social context.


name: Absent end-diastolic umbilical artery flow

description: An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an absence of flow in the umbilical artery at the end of diastole.


Increased CSF taurine concentration

description: Increased concentration of taurine in the cerebrospinal fluid (CSF).


name: Paradoxical increased cortisol secretion on dexamethasone suppression test


Photosensitive tonic-clonic seizure

description: Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light.


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


Plaque-like facial hemangioma

description: Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology.


Abnormal fetal nasal bone visualization

description: Abnormal appearance or non-visualization (apparent absence) of the nasal bone of a fetus in first trimester sonographic screening. Assessment of the fetal nasal bone is generally performed at 11-14 weeks gestational age.


Abnormal HDL cholesterol concentration

description: Any deviation from the normal concentration of high-density lipoprotein cholesterol (HDL) in the blood.


name: Increased density of left ventricular trabeculae

description: An increased density (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae).


name: Focal autonomic seizure with pupillary dilation/constriction

description: A type of focal autonomic seizure characterized by pupillary dilatation or contraction as the initial semiological feature.


Vertebral artery aneurysm

description: Abnormal outpouching or sac-like dilatation in the wall of the vertebral artery .


name: Elevated circulating hydroxybutyric acid concentration

description: An increased concentration in the blood circulation of a hydroxybutyric acid, that is, of a compound comprising a butyric acid core carrying at least one hydroxy substituent.


Elbow pain

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


deafness, unilateral

description: A unilateral absence of sensory perception of sound.


Peroneal muscle atrophy

description: Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius).


Appendiceal mucinous neoplasm

description: An epithelial neoplasm originating in the appendix and often associated with cystic dilation of the appendix due to accumulation of gelatinous material, morphologically referred to as mucoceles.


Phimosis

description: The male foreskin cannot be fully retracted from the head of the penis.


name: Bicuspid aortic valve with right-left cusp fusion

description: A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure.


Multiple small bowel atresias

description: The presence of multiple areas of atresia affecting the small intestine.


Tako-tsubo cardiomyopathy

description: Takotsubo cardiomyopathy (TC) is a recently described acute cardiac syndrome that mimics acute myocardial infarction and is characterized by ischemic chest symptoms, an elevated ST segment on electrocardiogram, and elevated levels of cardiac disease markers.


name: Abnormal circulating prealbumin concentration

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


name: Abnormality of prenatal development or birth

description: An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.


complete atrioventricular canal

description: Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterized by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow.


Recurrent fungal infections

description: Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.


Self-biting

description: Habitual biting of one's own body.


Selective mutism

description: Voluntary failure to use spoken language (at whatever level attained) in selective social contexts over a period of time.


periostitis

description: Inflammation of the periosteum. The condition is generally chronic, and is marked by tenderness and swelling of the bone and an aching pain. Acute periostitis is due to infection, is characterized by diffuse suppuration, severe pain, and constitutional symptoms, and usually results in necrosis. (Dorland, 27th ed)


Loose association

description: Speech characterized by weak (e.g. tangential/circumstantial) or absent (e.g. word salad) connections between ideas.


name: Organized thrombi within interlobular vein lumen

description: Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the interlobular veins of the kidney.


demyelinating polyneuropathy

description: Polyneuropathy that is characterized by demyelination of axons.


Axonal regeneration

description: The presence of axonal regeneration following a previous axonal lesion.


description: Generalised myoclonic-tonic-clonic seizure provoked by flashing or flickering light.


name: Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration

description: An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by retained awareness throughout the seizure.


Cleft of chin

description: Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin.


vulvar melanoma

description: A usually pigmented, nodular or polypoid malignant neoplasm that originates from melanocytes and arises from the vulva. It presents with bleeding and dysuria.


Peripheral lung neovascularity

description: The presence of small, tortuous, micronodular, serpiginous intrapulmonary vessels often in the subpleural lung or in proximity to centrilobular arterioles, coursing in directions inconsistent with known arteriolar anatomy.


U-Shaped upper lip vermilion

description: Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures.


Abnormal synaptic transmission

description: An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process.


Edema of the dorsum of feet

description: An abnormal accumulation of fluid beneath the skin on the back of the feet.


Craniofacial hyperostosis

description: Excessive growth of the craniofacial bones.


name: Abnormality of the kinin-kallikrein system


Abnormal urine output

description: An abnormal amount of urine production.


Fibrofolliculoma

description: Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation.


name: Mesial parasagittal subcortical heterotopia

description: Subcortical heterotopia extending along the mesial aspect of the lateral ventricles, with direct connection to mesial polymicrogyria-like cortex at the anterior and posterior limits of the heterotopia.


name: Abnormal resting energy expenditure from metabolic cart test

description: Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2).


name: Abnormal umbilical blood flow measurement


Abnormality of dorsal nasal artery

description: An abnormality of a dorsal nasal artery.


Abnormal urine carboxylic acid level

description: Any deviation from the normal concentration of a carboxylic acid in the urine.


Basal ganglia gliosis

description: Focal proliferation of glial cells in the basal ganglia.


CNS hypomyelination

description: Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.


Painless fractures due to injury

description: An increased tendency to fractures following trauma, with fractures occurring without pain.


name: Elevated circulating isovalerylcarnitine concentration

description: Concentration of O-isovalerylcarnitine in the blood circulation above the upper limit of normal.


Abnormality of dental color

description: A developmental defect of tooth color.


Middiastolic murmur

description: A murmur that occurs in the middle of the diastolic phase.


Vaginal birth after Caesarian

description: Vaginal birth after Caesarian (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally.


Abnormal pattern of respiration

description: An anomaly of the rhythm or depth of breathing.


Decreased circulating osteocalcin level

description: A reduced level of osteocalcin in the blood.


Leg dystonia

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


Palatine myxoma

description: A myxoma (A benign tumor composed of myxomatous tissue composed of loosely-arranged spindle, polygonal, and stellate cells) localized to the palate. Clinically, such tumors may present as a sessile nodule on the hard palate.


Fetal neck mass

description: An abnormal growth (lump) of tissue in the neck region of a fetus. Masses may be simple cystic,, cystic with a few simple septations (fewer than three septations and less than 3-mm thick), cystic with multiple or thick septations (greater than three septations or septations 3-mm-thick or more), a mass that is than is less than 50% solid, and a mass that is 50% solid or more.


name: Abnormality of the lumbosacral nerve plexus

description: Any abnormality of the lumbosacral nerve plexus.


name: Pulmonary interstitial lymphocyte infiltration

description: Abnormal accumulation of lymphocytes in the interstitium of the lung.


optic nerve glioma

description: A glioma that affects the optic nerve. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group.


name: Elevated circulating D-glyceric concentration

description: The concentration of D-gyceric acid in the blood circulation is above the upper limit of normal.


Abnormality of canine

description: An abnormality of canine tooth.


name: Osteolytic defects of the middle phalanges of the toes


Anti-GluK2 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamate kainate receptor subunit 2 (GluK2).


Anti-sphingolipid antibody positivity

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


Delayed eruption of primary teeth

description: Delayed tooth eruption affecting the primary dentition.


name: Focal impaired awareness undressing automatism seizure

description: A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary undressing at onset.


Spastic triplegia

description: Spastic weakness found in both lower extremities and one upper extremity.


name: Premature delivery because of cervical insufficiency or membrane fragility


Midline notching of lower lip

description: Exaggerated indentation at the very middle (midline) of the lower lip.


Scaling skin on fingertip

description: Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips.


Hyperperistalsis

description: Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine.


Primitive reflex

description: The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.


Abnormal relationship

description: The state of having abnormal relationships with others. This does not describe specific aspects of one's social aptitudes but rather a state which may come about from these aptitudes, such as lacking peer relationships, lacking close friends, or having a relational network that is abnormal given one's cultural context.


3-4 toe syndactyly

description: Syndactyly with fusion of toes three and four.


name: Increased urine sebacic acid concentration

description: Elevated concentration of sebacic acid in the urine.


Toenail onycholysis

description: Painless and spontaneous separation of a toenail from the nail bed.


name: Focal impaired awareness behavior arrest seizure

description: A focal behavior arrest seizure characterized by impaired awareness at some point during the seizure.


Persistent CMV viremia

description: Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation.


Subcutaneous neurofibroma

description: A neurofibroma (benign peripheral nerve sheath tumor) localized in the subcutis (subcutaneous region).


Medication crystalluria

description: A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber color. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance.


Chronic absent circulating IgE

description: A lasting absence of immunoglobulin E (IgE) in the blood circulation, whereby at most trace quantities of IgE can be measured.


name: Abnormal proportion of exhausted T cells

description: A deviation from the normal proportion of exhausted T cell relative to T cell in the blood.


Delusion of infidelity

description: A false belief that a person is the victim of his or her partner's unfaithfulness.


Macular purpura

description: Purpura that is flat (non-palpable, not raised).


Cerebral white matter hypoplasia

description: Underdevelopment of the cerebral white matter.


Abnormal pulmonary vein morphology

description: An abnormality of the structure of the pulmonary veins.


name: Anomalous origin of left pulmonary artery from ascending aorta

description: The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery.


name: Elevated CSF 14-3-3 protein concentration

description: The concentration of 14-3-3 protein in the cerebrospinal fluid (CSF) is above the upper limit of normal.


scrotum neoplasm

description: A benign or malignant neoplasm that affects the scrotum.


Plantar hyperkeratosis

description: Hyperkeratosis affecting the sole of the foot.


colonic atresia

description: Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns.


Late systolic murmur

description: A murmur that occurs in the latter phase of systole.


Abnormal atrial arrangement

description: Abnormality of the spatial relationship of the atria to other components of the heart.


Decreased need for sleep

description: There has been a noticeable decrease in the need for sleep, where individuals feel refreshed even with minimal or no sleep.


Impaired renal uric acid clearance

description: A reduction in the ability of the kidneys to remove uric acid from the serum.


Supravalvar pulmonary stenosis

description: A cardiovascular malformation associated with narrowing at the level of the pulmonary sinotubular junction above the pulmonic valve.


name: Supraventricular tachycardia with a concealed accessory pathway on the left free wall


Anti-AMPAR antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR).


Elevated urinary indican level

description: Detection of indican in the urine. Urinary indican concentration may be elevated in small bowel bacterial overgrowth. Indican is produced by bacterial deconjugation of dietary tryptophan to indole which is absorbed at all levels of the intestine, but principally from the small bowel.


name: Elevated urinary 3-hydroxyadipic acid level

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


EEG with occipital sharp waves

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


central nervous system vasculitis

description: Vasculitis affecting the blood vessels of the brain and/or spinal cord.


Motor delay

description: A type of Developmental delay characterized by a delay in acquiring motor skills.


Axillary apocrine gland hypoplasia

description: Developmental hypoplasia of the apocrine sweat glands in the region of the axilla.


Abnormal antral follicle count

description: Any deviation from a count of antral follicles that is normal for age. Antral follicles appear as small fluid-filled sacs that contain an immature egg. Antral follicle count can be measured (usually on day 2-5 of the menstrual cycle) by transvaginal ultrasound. The number of antral follicles may reflect ovarian reserve.


tracheal disorder

description: A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma.


apodia

description: The total absence of the foot, with no bony elements distal to the tibia or fibula.


name: Focal impaired awareness cognitive seizure with illusion

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


Intramural intestinal gas

description: The presence of extraluminal gas within the bowel wall.


name: Focal impaired awareness emotional seizure with agitation

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


Meconium pseudocyst

description: A meconium-containing cyst in the peritoneal space . Meconium pseudocysts form in the presence of meconium peritonitis, which is defined as a sterile peritonitis caused by escape of meconium from the intestinal tract into the general peritoneal cavity during the fetal or perinatal period. When the extruded meconium becomes walled off, it can form a rim-calcified mass representing the meconium pseudocyst.


Decreased proportion of memory B cells

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


name: Elevated circulating vitamin B12 concentration

description: Concentration of vitamin B12 in the blood circulation above the upper limit of normal.


name: Abnormal CSF homocarnosine concentration

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


Abnormal CSF neopterin concentration

description: Abnormal concentration of neopterin in the cerebrospinal fluid (CSF).


Third heart sound

description: The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients.


Acute aspiration pneumonia

description: An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.


Elevated urinary vanillylmandelic acid

description: An increased concentration of vanillylmandelic acid in the urine.


Angiokeratoma circumscriptum naeviforme

description: A type of angiokeratoma that typically presents in childhood as a large, mostly linear and unilateral hyperkeratotic plaque which is composed of confluent keratotic papules. The size ranges from a few centimeters up to a major part of the body surface. Initially the lesions present asa multile reddish macules, clinically similar to a nevus flammeus. Within several years they develop into acanthokeratotic papules that agrregate into plaques which may have a hyperkeratotic surface.


Chronic (near) absent circulating IgG1

description: A lasting absence of immunoglobulin G1 (IgG1) in the blood, whereby at most trace quantities of IgG1 can be measured.


name: Abnormal circulating 7-dehydrocholesterol concentration

description: Concentration of 7-dehydrocholesterol in the blood circulation outside the limits of normal.


Polyembolokoilamania

description: Habitual insertion of foreign bodies into bodily orifices.


Kidney teratoma

description: A teratoma located in a kidney.


Midline defect of the nose

description: This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip.


Abnormal facial vein morphology

description: An abnormality of a facial vein.


Absent second fingernail

description: Absence of the fingernail of the index (second) finger.


Severe periodontitis

description: A severe form of periodontitis.


Enlarged sylvian cistern

description: An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure).


name: Complete duplication of the proximal phalanx of the 2nd finger

description: Complete duplication of the second proximal phalanx of hand.


name: Abnormal circulating transferrin concentration

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


Elevated urinary epinephrine level

description: The concentration of epinephrine in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Abnormal circulating androstenedione concentration

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


name: Abnormal arcuate vein intima/media morphology

description: Any structural anomaly located in the inner or middle layer of the arcuate veins of the kidney.


Elevated umbilical artery pulsatility

description: Human umbilical artery (UA) blood flow pulsatility measured by Doppler ultrasound is a widely used biomarker for the detection of elevated placental vascular resistance. Elevated UA pulsatility, which in the most extreme cases manifests as absent or even reversed end-diastolic velocity, is associated with intrauterine growth restriction (IUGR) and still-birth.


Decreased T cell activation

description: Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.


Dilated ejaculatory duct

description: Increase in diameter of the ejeculatory duct. The ejaculatory duct delivers sperm into the urethra, adding secretions from the prostate and is formed by the union of the vas deferens with the duct of the seminal vesicle.


Crazy paving pattern

description: The so-called crazy paving pattern appears as thickened interlobular septa and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. The crazy-paving pattern is often sharply demarcated from more normal lung and may have a geographic outline. It was originally reported in patients with alveolar proteinosis and is also encountered in other diffuse lung diseases that affect both the interstitial and airspace compartments, such as lipoid pneumonia.


Interhemispheric cyst

description: Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system.


Therapeutic abortion

description: Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother's life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice.


Abnormal coagulation factor V activity

description: Any deviation from the activity of coagulation factor V.


Intestinal inflammation

description: A reaction characterizeds by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling localized to the in the intestinal tract.


Dermal sinus tract

description: A dermal sinus tract is an abnormality present at birth over the dorsal midline where an abnormal epithelialized connection from the skin tracks inwards towards the spine, most commonly seen in the lumbosacral region.


Elevated urine acetoacetic acid level

description: Elevated amount of acetoacetic acid in the urine.


Paradoxical embolism

description: Paradoxical embolism describes the passage of a venous or right-sided cardiac thrombus into the arterial or systemic circulation.


Anti-PM-Scl100 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl100.


3-5 toe syndactyly

description: Syndactyly with fusion of toes three to five.


odontoma

description: A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. According to the presence or absence of tooth-like structures, it is classified as complex type or compound type. Odontoma of complex type is characterized by the presence of enamel and dentin and the absence of tooth-like structures. It is treated with local excision. If it is incompletely removed, it may recur. Odontoma of compound type is characterized by the presence of tooth-like structures. It is treated by local excision. Recurrences have not been reported.


name: Decreased circulating beta-C-terminal telopeptide concentration

description: A reduction from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation.


Osteoporotic tarsals

description: Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.


Long-tract signs

description: Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions.


name: Abnormal interlobular vein intima/media morphology

description: Any structural anomaly of the inner or middle layer of the interlobular veins of the kidney.


Paraspinal arteriovenous malformation

description: An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in adjacent to the spine, i.e., in a location that is normally occupied by muscles, ligaments, nerves, and other tissues that run alongside the spinal column.


Anti-vinculin antibody positivity

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


Burning mouth

description: An intense sensation of burning, scalding, or tingling feeling of the tongue or other regions of the oral mucosa.


Reduced frequency of facial expressions

description: The number of times facial expressions are produced in a given period is lower than expected given the social and cultural context.


Linear nevus sebaceous

description: A type of nevus sebaceous with a linear form, raised borders and yellowish color.


Lipoatrophy

description: Localized loss of fat tissue.


Abnormal large intestine physiology

description: A functional anomaly of the large intestine.


name: Decreased glucose-6-phosphate dehydrogenase level in tissue

description: A decrease in the level of glucose-6-phosphate dehydrogenase in tissue.


description: A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids.


Hypocalcification of dental enamel

description: A form of hypomineralization of enamel characterized by reduced calcification.


name: Anti-carbonic anhydrase II antibody positivity

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


Sleep terror

description: Episodes of intense fear, screaming, and flailing occur even though the affected individuals are still asleep.


Pectoralis amyotrophy

description: Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor.


name: Elevated circulating acylcarnitine concentration

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


kidney papillary necrosis

description: A complication of kidney diseases characterized by cell death involving kidney papilla in the kidney medulla. Damages to this area may hinder the kidney to concentrate urine resulting in polyuria. Sloughed off necrotic tissue may block kidney pelvis or ureter. Necrosis of multiple renal papillae can lead to kidney failure.


Stratum basale cleavage

description: Cleavage within the epidermal keratinocytes, which is the innermost layer of the epidermis and consists of proliferating cells that give rise to the outer layers of the epidermis.


Dark urine

description: An abnormal dark color of the urine.


name: Small intestinal intraepithelial lymphocytosis

description: The count of lymphocytes located in the epithelial layer of the mucosa of the small intestine is above the upper limit of normal.


Primary obstructive megaureter

description: Megaurater associated with obstruction or an adynamic ureteral segment in the ureterovesical junction.


Focal cortical dysplasia type IIIb

description: A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) and/or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to glial or glioneuronal tumor.


Encephalocele

description: A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.


Oligodontia of primary teeth

description: Reduced number of primary teeth.


trigger thumb

description: A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58).


Absent aortic valve cusps

description: A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva.


name: Abnormal small intestinal villus morphology


Nocturia

description: Abnormally increased production of urine during the night leading to an unusually frequent need to urinate.


Abnormality of the upper limb

description: An abnormality of the arm.


Abnormal inferior vena cava morphology

description: Any structural anomaly of the principal vein draining blood from the lower portion of the body.


Mucosal telangiectasiae

description: Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs.


name: Abnormality of the musculature of the limbs


Reduced CSF asparagine concentration

description: The concentration of asparagine in the cerebrospinal fluid (CSF) is below the lower limit of normal.


name: Elevated circulating octenoylcarnitine concentration

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


Bilateral vocal cord paresis

description: Decreased strength of the vocal fold on both sides.


Small fetal abdominal circumference

description: The distance around the abdomen of a fetus, generally as measured by prenatal sonography, is below the lower limit of normal.


Globus pallidus calcification

description: Pathological deposition of calcium salts in the globus pallidus.


Chronic axonal neuropathy

description: An abnormality characterized by chronic impairment of the normal functioning of the axons.


Spinal neurofibroma

description: A neurofibroma (benign peripheral nerve sheath tumor) localized in the spine.


Cerebral artery calcification

description: An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a cerebral artery.


Calcification of falx cerebri

description: The presence of calcium deposition in the falx cerebri.


Stippled calcification in carpal bones

description: Point-shaped (punctate) calcifications affecting the carpal bones.


name: Fractured distal phalanx of manual digit 2

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


EEG with generalized polyspikes

description: EEG with repetitive generalized sharp transient waves of a duration less than 80 msec.


Increased urinary porphobilinogen

description: The concentration of porphobilinogen in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Elevated urinary 2-methyl-3-hydroxybutyric acid level

description: The amount of 2-methyl-3-hydroxybutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Abnormal circulating creatine concentration

description: A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells.


name: Renal arteriole intima/media amyloidosis

description: Amorphous extracellular substance in the inner or middle layer of renal arterioles. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy.


Perinephric fluid collection

description: An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography.


Aplasia/Hypoplasia of the ear

description: The presence of aplasia or developmental hypoplasia of the ear.


Labiomental fasciculations

description: Fasciculations affecting the tongue muscle and the musculature of the chin.


name: Short chordae tendineae of the tricuspid valve

description: Abnormally short chordae tendineae of the tricuspid valve.


name: Elevated circulating homoarginine concentration

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


name: Anti-citrullinated protein antibody positivity

description: The presence autoantibodies in the serum that react do different citrullinated antigens, including filaggrin, fibrinogen, vimentin and collagen.


name: Glomerular endocapillary foam-cell hypercellularity

description: Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space.


Toe syndactyly

description: Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".


Axial muscle weakness

description: Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs).


Abnormality of ophthalmic artery

description: Abnormality of the first branch of the internal carotid artery.


Abnormal sperm morphology

description: A structural anomaly of sperm.


Rectal atresia

description: A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum.


name: Increased circulating myristoleate level

description: An abnormally high concentration of myristoleate in the blood circulation.


Diastema

description: Increased space between two adjacent teeth in the same dental arch.


name: Segmental glomerulosclerosis away from the vascular and tubular poles

description: Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neirhter the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed.


Acute constipation

description: Constipation of sudden onset and lasting for less than three months.


name: Cortical radial artery foam cell hypercellularity

description: A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often macrophages, with a vacuolated appearance in the lumen of cortical radial artery (also known as the interlobular artery) of the kidney.


Protruding tongue

description: Tongue extending beyond the alveolar ridges or teeth at rest.


name: Elevated urinary N-carbamoyl-beta-alanine level

description: The amount of N-carbamoyl-beta-alanine present in urine, when adjusted for urine concentration, is above the upper limit of normal.


Hepatic arteriovenous malformation

description: A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures in the liver.


name: Juvenile type ovarian granulosa cell tumor

description: Juvenile granulosa cell ovarian tumor (JGCOT) is a rare sex cord stromal tumor, occuring most frequently in premenarchal girls or young women. In contrast to adult granulosa cell tumor, JGCOT has a high mitotic index and more aggressive tumor growth. Microscopically it is seen as diffuse and regularly distributed neoplastic cells with a wide cytoplasm and pleomorphic hyperchromatic nucleus. Follicle formation, in various sizes and shapes, is important in JGCOT. Call-Exner bodies are infrequently seen in JGCOT in contrast to the adult type.


Sparse facial hair

description: Reduced number or density of facial hair.


Abnormal urine hormone level

description: An abnormal concentration of a hormone in the urine.


Pineal cyst

description: A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland.


Drowsiness

description: Abnormal feeling of sleepiness or difficulty staying awake.


Chronic CSF lymphocytosis

description: Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter.


Common carotid artery aneurysm

description: An abnormal widening (dilatation) of the common carotid artery.


Delusion of persecution

description: False beliefs or perceptions in which a person believes that they are being treated with malicious intent, hostility, or harassment - despite significant evidence to suggest otherwise.


Pneumobilia

description: Accumulation of gas in the biliary tree.


Fractured ilium

description: A partial or complete breakage of the ilium.


Abnormality of the middle ear ossicles

description: An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).


Abnormal infraorbital artery morphology

description: An abnormality of an infraorbital artery.


Anti-contactin-1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CNTN1.


Tuberous xanthoma

description: A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes.


Focal pedal automatism seizure

description: A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.


Abnormal emotion

description: Abnormalities in the intensity, frequency, or duration of emotional experiences.


name: Elevated circulating tetradecenoylcarnitine concentration

description: The concentration of tetradecenoylcarnitine (C14:1) in the blood circulation is above the upper limit of normal.


name: Swollen achromatic neurons in the cerebral cortex

description: The presence of enlarged and swollen neurons that lack Nissl bodies (the rough endoplasmic reticulum-achromasia refers to neurons that lack Nissl bodies) in the cortex of the brain.


Abnormal synovial bursa morphology

description: A structural anomaly of a synovial bursa.


Chaddock reflex

description: A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract.


generalized lipodystrophy

description: Almost complete absence of subcutaneous and/or visceral adipose tissue.


Cellular urinary casts

description: A type of urinary cast composed of cells incorporated in a protein matrix. The cells can be those found in the urinary sediment (erythrocytes, leuklocytes, renal tubular epithelial cells).


Abnormal heart valve physiology

description: Any functional abnormality of a cardiac valve.


description: Abnormality of the twelfth cranial nerve.


name: Vascular granular osmiophilic material deposition

description: Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide. Deposition of granular osmiophilic material (GOM) is the vascular pathological hallmark of CADASIL, which is the most prevalent hereditary small vessel disease and is caused by missense mutations in the NOTCH3 gene. GOM have been shown to contain NOTCH3 ectodomain (NOTCH3ECD) and extracellular matrix proteins, and can be visualized ultrastructurally in the tunica media of small arteries and capillaries. These electron dense GOM deposits are located in the basement membrane of mural cells, i.e. vascular smooth muscle cells and pericytes. In both manifest and pre-manifest CADASIL patients, GOM deposits are present not only in brain vessels, but also in vessels of other organs, such as the skin.


twin to twin transfusion syndrome

description: Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated


name: Congenital sensorineural hearing impairment

description: A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.


name: Decreased circulating apolipoprotein concentration

description: Reduced concentration in the blood circulation of a lipid-transport protein (apoliprotein).


neuritis

description: A neuropathy arising from inflammation of one or more nerves.


name: Facial palsy secondary to cranial hyperostosis

description: Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve.


name: Abnormality of somatosensory evoked potentials

description: An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex.


name: Increased hepatitis A virus antibody level

description: An abnormally increased level of immunoglobulin against hepatitis A virus in the blood.


Continuous heart murmur

description: A murmur that occurs in both systole and diastole.


Elevated circulating CHI3L1 level

description: Increased concentration of chitinase 3-like 1 (CHI3L1) in the blood circulation.


Symptomatic seizures

description: A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed.


name: Diminishment of interpersonal communication

description: A reduction in the tendency of a person to share information or emotions compared to that person's previous norms.


Pansynostosis

description: Craniosynostosis of all calvarial sutures.


Synkinesis

description: Unintentional movement in one area of the body produced during intentional movement of another area of the body.


Thickened skin

description: Laminar thickening of skin.


Diaphyseal sclerosis

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


Abnormal natural killer cell morphology

description: An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells.


name: Elevated circulating 27-hydroxycholesterol concentration

description: The concentration of 27-hydroxycholesterol in the blood circulation is above the upper limit of normal.


name: Patchy sclerosis of the distal phalanx of the 4th finger

description: Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger.


Complete cleft of the upper lip

description: Cleft of the upper lip that starts from the bottom of the upper lip and reaches the nasal cavity.


name: Thyrotoxicosis from ectopic thyroid tissue


name: Elevated urine 4-methyl-2-oxopentanoic acid level

description: Increased amount of 4-methyl-2-oxopentanoic acid in the urine.


Perineal hemangioma

description: Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals.


Abnormal chorion morphology

description: Any structural anomaly of the fetal part of the placenta, which is known as the chorion.


Acute respiratory acidosis

description: Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35).


Decreased urinary biopterin level

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


name: Extra-axial cerebrospinal fluid accumulation

description: An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space.


name: Fractured middle phalanx of pedal digit 3

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


Villous hypertrophy of choroid plexus

description: Overgrowth of the choroid plexus.


Increased heart rate variability

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


Juvenile aseptic necrosis

description: Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers.


Abdominal aortic dissection

description: A tear in the intimal layer of the abdominal aorta causing a separation between the intima and the medial layers.


name: T cell chronic lymphocytic lymphoma/leukemia

description: A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent.


Pulsatile liver

description: Cardiac synchronous pulsation on palpation.


Retropharyngeal hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the retropharyngeal space, the portion of the peripharyngeal space that is located posterior to the pharynx.


Abnormal oral cavity morphology

description: Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.


Reduced circulating fibronectin level

description: A reduction below the normal concentration of fibronectin the the blood circulation.


Abnormal foot morphology

description: An abnormality of the skeleton of foot.


Abnormality of the spleen

description: An abnormality of the spleen.


Hydrocolpos

description: Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction.


Abnormality of the abdominal organs

description: An abnormality of the viscera of the abdomen.


Harlequin phenomenon

description: The Harlequin phenomenon consists of a sudden change in skin color, resulting in two different body colors, one on each half of the body.


Chin with H-shaped crease

description: H-shaped crease in the fat pad of the chin.


name: Bilateral superior vena cava with bridging vein


Cardiomyocyte degeneration

description: Deterioration of cardiomyocyte characterized by abnormal features such as loss of myofilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris.


Mycobacterium bacteremia

description: Presence of viable mycobacteria in the blood.


name: Cortical radial artery medial hypertrophy

description: Increased thickness of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.


Single second heart sound

description: The second sound can remain single throughout the respiratory cycle due to either absence of one component or to synchronous occurrence of the two components. Since the pulmonary vascular impedance increases with age, many normal patients over age 50 have a single S2 or at most a narrow physiologic split on inspiration because P2 occurs early. A single second sound, however, is usually due to inability to auscultate a relatively soft pulmonic component. Such inability is rare in healthy infants, children, and young adults and is uncommon even in older persons under good auscultatory conditions using a rigid stethoscopic diaphragm.


blue nevus

description: An intradermal nevus characterized by the presence of benign pigmented dendritic spindle-shaped melanocytes. It most frequently occurs in the skin of the distal upper extremities, followed by the lower extremities, scalp, face, and buttocks. It usually presents as a single blue or blue-black papular lesion less than 1cm in diameter. Simple excision is usually curative.


Breast intraductal papilloma

description: Intraductal papilloma is a benign tumor found within breast ducts. The abnormal proliferation of ductal epithelial cells causes growth. A solitary intraductal papilloma is usually found centrally posterior to the nipple affecting the central duct. Multiple intraductal papillomas are located peripherally, found in any breast quadrant affecting the peripheral ducts.


Abnormal skull base morphology

description: An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components.


name: Elevated CSF alpha-ketoglutarate concentration

description: The concentration of alpha-ketoglutarate in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Abnormal thymus morphology

description: Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation.


2:1 atrioventricular block

description: A type of second-degree atrioventricular block in which every other P wave is not conducted through the AV node such that only every other P wave is followed by a QRS complex.


Abnormal bronchus morphology

description: Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs.


Lambda Bence Jones proteinuria

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


name: Abnormal CD69 upregulation upon TCR activation

description: Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus.


Vaginal adenosis

description: Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life.


name: Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against the tyrosine phossphatase region of islet antigen 2A (this region is a specific part of IA-2). Usually IA-2A are measured using the intracellular portion of IA-2 (IA-2ic) made up of the protein tyrosine phosphatase (PTP) and juxtamembrane (JM) regions.


C4 nephritic factor positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that recognize C4b2a, the C3 convertase of the classical pathway of complement.


Abnormal growth hormone level

description: Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful.


Abnormal vomer morphology

description: An abnormality of the vomer.


Hypertaurinemia

description: An increased amount of taurine in the blood.


Subungual hyperkeratosis

description: A thickening of the stratum corneum in the region beneath the nails.


Eunuchoid habitus

description: A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more).


L-shaped kidney

description: A type of cross fused renal ectopia in which the crossed kidney lies inferiorly and transversely, fused with the lower pole of the normal kidney.


Polyclonal elevation of circulating IgE

description: A heterogeneous increase in IgE mmunoglobulins characterized by a diffuse band on serum electrophoresis.


name: Multifocal hypointensity of cerebral white matter on MRI


Hyposmia

description: A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).


Vertebral fusion

description: A developmental defect leading to the union of two adjacent vertebrae.


Abnormal urinary bile acid level

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


Abnormal social behavior

description: An abnormality of actions or reactions of a person taking place during interactions with others.


EEG abnormality

description: Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.


Renal tubular epithelial cell apoptosis

description: Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris.


Decreased serum zinc

description: A reduced concentration of zinc in the blood.


Abnormality of the plantar skin of foot

description: An abnormality of the plantar part of foot, that is of the soles of the feet.


name: Contracture of the proximal interphalangeal joint of the 2nd finger

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


Poor suck

description: An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.


name: Patchy sclerosis of the distal phalanx of the 5th toe

description: Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.


name: Incomplete ossification of palatine bone

description: Failure to complete ossification (maturation and calcification) of the palatine bone.


Increased fetal long bone echogenicity

description: An abnormally elevated echogenicity of fetal long bones in a prenatal sonographic investigation. This finding is due to hypermineralization.


Arterial rupture

description: Sudden breakage of an artery leading to leakage of blood from the circulation.


name: Neonatal wrinkled skin of hands and feet


Abdominal aortic calcification

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


name: Focal impaired awareness non-motor seizure

description: A focal non-motor seizure characterized by impaired awareness at some point during the seizure.


Recurrent viral skin infections

description: Increased susceptibility to viral skin infections, as manifested by recurrent episodes of viral skin infections.


Perisylvian FDG hypermetabolism

description: 18F-fluorodeoxyglucose (FDG) positron emission tomography and computed tomography (FDG-PET/CT) evaluates the glucose metabolism of the brain. FDG uptake is interpreted to represent glycolysis. This term therefore represents an abnormally increased FDG uptake (increased glucose metabolism) in the region of the brain that surrounds the Sylvian fissure.


Abnormal inner ear morphology

description: A structural anomaly of the internal part of the ear.


Abnormal U wave

description: An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3.


Appendicular spasticity

description: A type of spasticity that affects one or more limbs (arms or legs).


Urate tophus

description: Intradermal urate crystal deposits appeared as small, superficial, pustule-like, whitish lesions. The lesions may be the focus of inflammatory episodes with increasing pain, swelling, and erythema of the intradermal tophi.


Long-segment aganglionic megacolon

description: A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid.


Notched T wave

description: A bifid T-wave with a notch duration between the 2 peaks at leasy 0.04 sec and an amplitude at least 0.05 mV.


Perisylvian polymicrogyria

description: Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly.


name: Increased circulating nicotinurate level

description: An increased amount of nicotinurate in the blood.


name: Fatigable weakness of respiratory muscles

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


Pulmonary arteriovenous fistulas

description: A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed.


Dysgenesis of the hippocampus

description: Structural abnormality of the hippocampus related to defective development.


Abnormal maxilla morphology

description: An abnormality of the Maxilla (upper jaw bone).


Erythrodontia

description: Reddish, brown opalescent discoloration of teeth in normal light.


Fetal extra-axial hemorrhage

description: A type of fetal intracranial hemorrhage with bleeding that occurs within the skull but outside of the brain tissue itself (into the epidural, subdural, or arachnoid space).


Dissociated sensory loss

description: A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa.


Parietal hypometabolism in FDG PET

description: Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan.


name: Decreased proportion of naive CD4 T cells

description: An abnormally reduced proportion of naive CD4 T cells relative to the total number of T cells.


Atrophic scars

description: Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.


partial motor epilepsy

description: A simple partial seizure consisting of clonus or spasm of a muscle or muscle group; it may be single or in a continuous and repetitive series or may spread to adjacent muscles.


Cerebral venous angioma

description: A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system.


Decreased circulating total IgG

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


Anti-GM2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM2.


Eosinophilic dermal infiltration

description: Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils.


Excessive cleaning

description: Excessive cleaning of surfaces, living space, or environment that is excessive for the situational context.


Abnormal midface morphology

description: An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface.