humeroradial synostosis

description: Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present.


name: Osteolytic defects of the proximal phalanx of the 4th toe

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


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


Broad femoral head

description: Increased width of the femoral head.


Focal myoclonic seizure

description: A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.


Increased CSF D-threitol concentration

description: The concentration of D-threitol in the cerebrospinal fluid is above the upper limit of normal.


Hyperisoleucinemia

description: An increased concentration of isoleucine in the blood.


name: Glomerular hyalinosis at the tubular pole

description: Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole.


name: Elevated circulating 1-pyrroline-5-carboxylic acid acid concentration

description: The concentration of delta-1-pyrroline-5-carboxylate in the blood circulation is above the upper limit of normal.


Decreased patellar reflex

description: Decreased intensity of the patellar reflex (also known as the knee jerk reflex).


Increased DLCO

description: Increased ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test.


Tibialis anterior muscle atrophy

description: Wasting of the tibialis anterior muscle.


Elevated circulating DOPA concentration

description: Concentration of DOPA (3,4-dihydroxyphenylalanine) in the blood circulation above the upper limit of normal.


Abnormal gallbladder physiology

description: A functional anomaly of the gallbladder.


Long upper lip

description: Increased width of the upper lip.


name: Pseudoepiphysis of the distal phalanx of the 5th finger

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


Anti-TRIM46 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the axon initial segment protein tripartite motif 46 (TRIM46).


Increased CSF aspartate concentration

description: Abnormally increased levels of aspartic acid in cerebrospinal fluid.


Upslanting toenail

description: Upturned concavity of toenails.


Poorly formed metencephalon

description: A morphological abnormality of the metencephalon.


name: Aplasia of the distal phalanx of the 4th finger

description: Absence of the distal phalanx of the ring (4th) finger.


Pericardial late gadolinium enhancement

description: Areas of high signal intensity in magnetic resonance imaging of the pericardium appearing around 10 minutes after injection of the intercellular contrast agent gadolinium.


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


Absent fingernail

description: Absence of a fingernail.


name: EEG with photoparoxysmal response grade IV

description: Occurrence of generalized epileptiform discharges during photic stimulation.


Carotid artery tortuosity

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


Triangular tongue

description: A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle.


name: Increased anti-dust mite IgE antibody level

description: Increased level of IgE antibody against dust mites, such as house dust mites.


name: Non-convulsive status epilepticus without coma

description: A type of status epilepticus without prominent motor symptoms in the absence of coma.


name: Anti-bactericidal/permeability-increasing protein antibody positivity

description: The presence of autoantibodies in the blood circulation that react against bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding host protein with important antibacterial effects against Gram-negative bacteria, such as Pseudomonas aeruginosa. BPI is a 55 kDalton protein that is most abundant in the azurophilic granules of neutrophils. BPI also acts as a target antigen for antineutrophil cytoplasmic autoantibodies.


name: Abnormal circulating aspartic acid concentration

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


Increased serum sorbitol concentration

description: An increased level of sorbitol in the blood circulation.


Cortical nephrocalcinosis

description: The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla).


name: Renal tubular epithelial cell hemosiderin

description: Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment.


Hepatic xanthomatosis

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


description: Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx.


Generalized cerebral atrophy/hypoplasia

description: Generalized atrophy or hypoplasia of the cerebrum.


name: Elevated circulating aspartylglucosamine concentration

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


Hypoketotic hypoglycemia

description: A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies.


Carpometacarpal thumb joint contracture

description: Chronic loss of joint motion of the carpometacarpal joint of the thumb due to structural changes in non-bony tissue. This joint is formed by the first metacarpal and the trapezial bone and is also called Articulatio carpometacarpalis pollicis, carpometacarpal articulation of thumb, carpometacarpal joint of thumb or first carpometacarpal articulation. Seldom referred to as thumb saddle joint.


name: Anomalous origin of coronary artery from the pulmonary artery

description: A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta.


Short digit

description: One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened.


Impaired memory B cell generation

description: Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge.


name: Renal interstitial necrotizing granulomas

description: An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation.


Female sexual dysfunction

description: A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity


Symphalangism of the 5th finger

description: Fusion of two or more bones of the 5th finger.


Decreased KCO

description: Decreased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index).


Frog-leg posture

description: A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog.


Moyamoya phenomenon

description: A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis.


Fetal choroid plexus cysts

description: Fetal choroid plexus cysts (CPCs) are sonographically discrete, small cysts found in the choroid plexus within the lateral cerebral ventricles of the developing fetus at 14 to 24 weeks gestation. Imaging of the choroid plexus is performed in the transverse plane of the fetal head at the same level that the lateral cerebral ventricle is evaluated. The choroid plexus should be inspected bilaterally for the presence of cysts. The size of CPCs is not of clinical relevance (PMID:16100637).


Iron accumulation in substantia nigra

description: An anomalous build up of iron (Fe) in the substantia nigra.


name: Bracket epiphysis of the distal phalanx of the 4th finger

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


Anti-LGI1 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against leucine-rich glioma-inactivated 1 (LGI1).


name: Glomerular hyalinosis away from the vascular and tubular poles

description: Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section.


name: Abnormality of the distal fibular epiphysis

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


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

description: Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger.


name: Stippling of the epiphyses of the middle phalanges of the hand


name: Synostosis of second metacarpal-trapezoid

description: Fusion of the second metacarpal-trapezoid.


Absent ankle pulse

description: The pulsation of the posterior tibial artery behind the internal malleolus, or of the dorsalis pedis artery, cannot be detected on physical examination.


Snowball lesion of corpus callosum

description: Centrally located corpus callosum hyperintensities said to resemble snowballs upon magnetic resonance imaging (with T2 or Sagittal fluid attenuated inversion recovery [FLAIR] sequences). The central location in the callosum makes them pathognomonic for Susac syndrome.


name: Abnormality of the parathyroid physiology

description: A functional abnormality of the parathyroid gland.


Fractured manual digit

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


Cardiovascular calcification

description: Abnormal calcification in the cardiovascular system.


name: Bracket epiphysis of the middle phalanx of the 4th finger

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


Cardiac valve vegetations

description: Endocarditis infection occurs along the edges of the heart valves. Damage to the cardiac endothelium followed by platelet and fibrin deposition results in a sterile lesion known as nonbacterial thrombotic endocarditis (NBTE) or vegetation. Microbes entering the bloodstream via routine or invasive procedures adhere to the vegetation and are engulfed in an outer meshwork of fibrin and platelets. Subsequent rapid microbial multiplication in a protected area of impaired host defense leads to vegetation growth and continuous bacteremia.


Short iliac bones

description: Underdevelopment of the iliac bones.


name: Abnormal tricuspid chordae tendinae morphology

description: Any structural anomaly of the chordae tendinae of the tricuspid valve. The chordae tendineae connect the papillary muscles to the tricuspid valve.


trachea neoplasm

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

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


Abnormal urine pH

description: A deviation of urine pH from the normal range of 4.5 to 7.8.


Large elbow

description: Abnormal increased size of the elbow joint.


name: Post-angioplasty coronary artery restenosis


Avulsion fractured epiphysis of femur

description: A fractured in which the fragment of the epiphysis of femur bone tears away from the main mass of bone as a result of physical trauma.


Unicameral bone cyst

description: A benign fluid filled simple cyst of bone filled with serous fluid.


name: Complete duplication of the proximal phalanx of the 5th toe

description: Complete duplication of the proximal phalanx of fifth toe.


Severe oligozoospermia

description: A type of oligozoospermia characterized by a total number of more than 2 but less than 10 million sperm in the ejaculate or a concentration of more than 1 but less than 5 million sperm per milliliter.


Midnasal stenosis

description: Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress.


Bidirectional shunt

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


Glomerular hyalinosis

description: Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular.


Abnormal femoral metaphysis morphology

description: An anomaly of the femoral metaphysis.


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


name: Circumferential skin creases on extremities

description: Ringed creases of the skin of the extremities related to folding of excess skin.


name: Focal impaired awareness emotional seizure with laughing

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


name: Aplasia/Hypoplasia of the distal phalanges of the hand

description: Absence or underdevelopment of the distal phalanges.


Fetal ascites

description: Accumulation of fluid in the peritoneal cavity during the fetal period.


congenital laryngeal web

description: Congenital laryngeal web is a rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.


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


Bacteria allergy

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


thyroid hormone resistance syndrome

description: An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine.


name: Abnormality of endocrine pancreas physiology

description: A function abnormality of the endocrine pancreas.


osteoblastoma

description: A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent.


Atrioventricular reentrant tachycardia

description: Accessory pathway-related atrioventricular reentrant tachycardia (AVRT) involves an abnormal electrical conduction of the accessory pathway. The accessory pathway connecting impulses between the atrium and the ventricle can be seen at any site in the AV groove.


Focal aware behavior arrest seizure

description: A focal behavior arrest seizure characterized by retained awareness throughout the seizure.


Anti-GT1a IgM antibody positivity

description: The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside.


name: Cone-shaped epiphyses of the proximal phalanges of the hand


name: Increased circulating UDP glucose-4-epimerase concentration

description: An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.


name: Arcuate vein intimal/medial storage material accumulation

description: Accumulation of material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arcuate veins of the kidney.


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

description: A type of focal autonomic seizure characterized by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature.


Recurrent maladaptive behavior

description: A repeating behavior that is either immediately unproductive or has negative long-term consequences. This includes harmful coping mechanisms such as addictive behavior and failure to control impulses and compulsions.


recurrent hypersomnia

description: Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., idiopathic hypersomnolence; narcolepsy; and kleine-levin syndrome) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, mental disorders, and sleep apnea syndrome). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320)


Fatigable weakness of bulbar muscles

description: A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) 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.


name: Anti-phosphatidyl glycerol antibody positivity

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


Tubulonodular pericallosal lipoma

description: A type of pericallosal lipoma with a rounded or lobular appearance and a diameter that is usually above 2 cm. They are anteriorly situated and are associated with extensive callosal and often fronto-facial anomalies. A tubulonodular pericallosal lipoma can extend into the choroid plexus or lateral ventricles.


Incomplete partition of the cochlea

description: Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema.


Abnormal premolar morphology

description: An abnormality of morphology of premolar tooth.


name: Abnormal lower-limb metaphysis morphology


name: Symphalangism affecting the middle phalanx of the 2nd toe


name: Glomerular endothelial tubuloreticular inclusion

description: Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon.


name: Elevated circulating catecholamine level

description: An abnormal increase in catecholamine concentration in the blood.


name: Increased urinary 11-deoxycorticosterone level

description: An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine.


Ornithinuria

description: Level of ornithine in the urine above the upper limit of normal.


Anti-GQ1b IgG antibody positivity

description: The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b.


Medullary nephrocalcinosis

description: The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney).


polydactyly of a biphalangeal thumb

description: Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left.


distal symphalangism

description: Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet.


Reversible airflow obstruction

description: Airflow obstruction with a significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL.


name: Decreased growth hormone responses to growth hormone-releasing hormone challenge

description: Insufficient growth hormone secretion following administration of growth hormone-releasing hormone.


cutaneous melanoma

description: A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma.


Increased QRS voltage

description: Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm).


Secretory adrenocortical adenoma

description: An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones.


Absent abdominal reflex

description: Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus.


Focal tonic seizure

description: A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes.


multiple mucosal neuroma

description: Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath.


Generalized arterial calcification

description: Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body.


3-4 metacarpal synostosis

description: A congenital hand malformation characterized by the coalescence of the coalescence of third and fourth metacarpals (i.e., those corresponding to the middle and ring fingers).


Focal aware autonomic seizure

description: A focal aware autonomic seizure has an initial manifestation pertaining to autonomic nervous system function, which may be objective (for example, pupillary dilation) or subjective (for example, nausea). As a type of focal aware seizure, awareness is retained throughout.


Drumstick terminal phalanges

description: Rounding and broadening of the tufts of the distal phalanges.


Ivory epiphyses of the 2nd toe

description: Epiphyses of the 2nd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


name: Non-restrictive ventricular septal defect

description: Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD.


Enlarged amygdala

description: A increase in the volume (size) of the amygdyla.


name: Ivory epiphysis of the distal phalanx of the thumb

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


Mass on thoracic imaging

description: A mass is any pulmonary, pleural, or mediastinal lesion seen on chest radiographs as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics). Mass usually implies a solid or partly solid opacity. CT allows more exact evaluation of size, location, attenuation, and other features.


Monoclonal elevation of circulating IgE

description: An increase in circulating IgE characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.


Abnormality of the palmar creases

description: An abnormality of the creases of the skin of palm of hand.


46,XY disorder of sex development

description: Differences of sex development in individuals with 46,XY karyotype.


Proximal muscle weakness in lower limbs

description: A lack of strength of the proximal muscles of the legs.


pulmonary valve agenesis

description: Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.3424


name: Abnormality of the proximal phalanx of the 4th finger


White oral mucosal macule

description: A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed.


Abnormal speech rate

description: Speech that is abnormally fast or slow


name: Anti-endothelin-1 type A receptor antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endothelin-1 type A receptor.


Abnormality of the ankle

description: An anomaly of the joint that connects the foot with the leg.


Pharyngeal myxoma

description: A myxoma (benign, locally infiltrative neoplasms arising from mesenchymal origin) localized to the pharynx.


inherited threoninemia

description: An increased concentration of threonine in the blood.


Curved toe phalanx

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


name: Intralamellar mucoid extracellular matrix accumulation

description: A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix does not significantly alter the arrangement of the lamellar units.


thoracic aortic aneurysm

description: An aneurysm formed in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta.


Auditory sensory seeking

description: Pursuit of specific sounds or noises that is abnormal in intensity and/or frequency.


Neonatal focal myoclonic seizure

description: Neonatal focal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) which occurs focally.


name: Sensorimotor polyneuropathy affecting arms more than legs


Motor tics

description: Movement-based tics affecting discrete muscle groups.


Hypoxemia in cord blood

description: An abnormally low level of blood oxygen in the cord blood.


Abnormal metencephalon morphology

description: An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum.


Abnormal ischium ossification

description: An abnormality of the formation and mineralization of ischial bones.


name: Disproportionate shortening of the tibia


Flat nasal alae

description: An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae).


name: EEG with generalized slow activity grade 1

description: Slowing at frequencies between 7.5 and 8.5 Hz.


Undulate clavicles

description: An abnormally wavy surface or edge of the clavicles.


Reduced residual volume

description: Abnormal decrease in the amount of air remaining in a person's lungs after full exhalation.


inborn glycerol kinase deficiency

description: An acquired metabolic disease that has its basis in the disruption of glycerol kinase activity.


Fibular bowing

description: A bending or abnormal curvature of the fibula.


name: polyposis of gastric fundus without polyposis coli

description: Multiple polyps in the acid-secreting mucosa of the gastric body and fundus. Fundic gland polyps (FGP) are usually 1 to 5 mm in size, though larger polyps have been found. FGPs are typically sessile, shiny, translucent, pale to pinkish in color (resembling the surrounding mucosa), and often exhibit tiny surface blood vessels. These polyps have characteristically been observed to chunk off or detach entirely at the base when removed with cold forceps, in contrast to other types of gastric polyps.


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

description: Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger.


name: Premature coronary artery atherosclerosis

description: Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45.


Abnormal direction of ventricular apex

description: Abnormal plane of direction of the heart from the base to the apex. Left sided is normal.


nodular cutaneous amyloidosis

description: Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as SjC6grenBs syndrome and CREST syndrome.


name: Elevated circulating saccharopine concentration

description: An increased concentration of saccharopine in the blood circulation. L-saccharopine is the N(6)-(1,3-dicarboxypropan-1-yl) derivative of L-lysine.


Hernia of the abdominal wall

description: The presence of a hernia in the abdominal wall.


Oligodactyly

description: A developmental defect resulting in the presence of fewer than the normal number of digits.


Lumbosacral hemangioma

description: A spinal cord hemangioma located in the lumbosacral spine region.


Abnormal palm morphology

description: An abnormality of the palm, that is, of the front of the hand.


Acquired abnormal hair pattern

description: An abnormality of the distribution of hair growth that is acquired during the course of life.


Extrahepatic portal hypertension

description: Increased pressure in the pre-hepatic portal vein.


Adrenocortical cytomegaly

description: The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex.


Progressive clavicular acroosteolysis

description: Progressive bone resorption in the distal part of the clavicle.


Focal polymicrogyria

description: Polymicrogyria affecting one or multiple small areas of the cerebral cortex.


EEG with series of focal spikes

description: Focal spikes occurring for several seconds.


Phantageusia

description: A form of altered taste sensation in which the affected person perceives a taste, usually an unpleasant one, in the absence of a corresponding stimulus in the environment.


name: Short proximal phalanx of the 5th finger

description: Hypoplastic/small proximal phalanx of the fifth finger.


name: Aplasia/hypoplasia of the 1st metatarsal

description: Absence or underdevelopment of the first metatarsal bone.


Abnormal motor neuron morphology

description: Any structural anomaly that affects the motor neuron.


Abnormal pineal morphology

description: A structural abnormality of the pineal gland.


Deep white matter hypodensities

description: Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter.


Flat glenoid fossa

description: Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.


name: Complete duplication of the distal phalanx of the 5th finger

description: Complete duplication of the distal phalanx of little finger.


Concave nasal ridge

description: Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip.


Postural instability

description: A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.


name: Osteolytic defects of the 1st metatarsal

description: Dissolution or degeneration of bone tissue of the first metatarsal.


Abnormality of hair growth rate

description: Hair whose growth rate deviates from the norm.


polymorphic ventricular tachycardia

description: A ventricular tachycardia that is irregular in rate and rhythm.


Frequent Giardia lamblia infestation

description: Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection.


name: Distal/middle symphalangism of 3rd finger

description: Fusion of the terminal/distal and middle phalanges of the 3rd finger.


Rheumatoid nodule

description: A well-demarcated, flesh colored, subcutaneous and usually freely movable lump or mass. Rheumatoid nodules can vary in size from small, pea sized lesions up to the size of a lemon and are most often round. The nodules usually are doughy or firm however and not tender. Typically rheumatoid nodules are distributed over areas of repeated trauma or pressure and occur adjacent to joints on extensor surfaces, such as the elbow, fingers and forearms.


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

description: Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms.


Absent thumb

description: Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.


name: Focal impaired awareness myoclonic seizure

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


Recurrent mandibular subluxations

description: Recurrent partial dislocations of the mandible.


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


name: Abnormal circulating bilirubin concentration


Aplasia of the 5th finger

description: Absent 5th (little) finger.


Generalized muscle weakness

description: Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.


name: Abnormal internal carotid artery morphology

description: An abnormality of an internal carotid artery.


fibrous hamartoma of infancy

description: A poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern.


name: Focal impaired awareness vocal automatism seizure

description: A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset.


Microtia, second degree

description: Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear.


name: Small epiphysis of the proximal phalanx of the hallux


EBV encephalitis

description: Inflamation of the brain related to infection by Epstein-Barr virus.


Abnormal hypothalamus morphology

description: Any structural anomaly of the hypothalamus.


name: Osteolytic defects of the phalanges of the 5th toe


otosclerosis

description: Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to conductive, sensorineural, or mixed hearing loss. Several genes are associated with familial otosclerosis with varied clinical signs.


Orthostatic syncope

description: Syncope following a quick change in position from lying down to standing.


Narrow nasal base

description: Decreased distance between the attachments of the alae nasi to the face.


name: Abnormal cortical radial artery endothelium morphology

description: Abnormal structural characteristics of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney.


Probst bundles

description: Probst bundles (also known as longitudinal callosal fascicles) are neuroanatomical homologues to the corpus callosum and can occur in association with callosal agenesis. Probst bundles are white matter fibers that normally cross the corpus callosum but (because of the agenesis of the corpus callosum) fail to cross the midline, such that when they reach the corticoseptal boundary, they turn and run parallel to the interhemispheric fissure within the septal leaves, indenting the medial walls of the lateral ventricles.


Uterine myxoma

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


CSF polymorphonuclear pleocytosis

description: An increased polymorphonuclear cell count in the cerebrospinal fluid.


name: Aplasia/Hypoplasia of the musculature of the thigh

description: Absence or underdevelopment involving the musculature of the thigh.


Neonatal electrographic only seizure

description: Neonatal electrographic only seizure is an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end, which is not associated with a clinical manifestation.


Epidermal thickening

description: Thickening of the epidermal layer of the skin.


Abnormal prosody

description: Abnormalities in the patterns of rhythm, stress, or intonation of speech or vocalization.


name: Anti-myelin-associated glycoprotein antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG).


Abnormal CSF isoleucine concentration

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


name: EEG with hyperventilation-induced epileptiform discharges

description: Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


name: Irregular ossification of the radial metaphysis


Episodic hemiplegia

description: Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body.


Talipes calcaneovalgus

description: Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an "up and out" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg.


Unexplained fevers

description: Episodes of fever for which no infectious cause can be identified.


name: Delayed proximal femoral epiphyseal ossification

description: Developmental delay of ossification of the proximal epiphysis of the femur.


glycine encephalopathy

description: Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.


name: Double inlet to single ventricle of indeterminate morphology

description: The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle.


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


prostate calculus

description: A concretion in the prostate.


name: Abnormal platelet ATP dense granule secretion

description: Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP).


name: Excessive bleeding from superficial cuts

description: An abnormally increased degree of bleeding following a superfical injury to the surface of the skin.


Abnormality of the hypothenar eminence

description: An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger).


Abnormality of the crus of the helix

description: An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear.


name: Focal T2 hypointense basal ganglia lesion

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


Acute esophageal necrosis

description: A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion ('black esophagus') distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction.


optic nerve sheath meningioma

description: A meningioma that affects the sheath of the optic nerve.


name: Elevated circulating 3-hydroxylinoleylcarnitine concentration

description: Increased concentration of 3-hydroxylinoleylcarnitine in the blood circulation.


Hypoplasia of the midbrain

description: A developmental defect characterized by underdevelopment of the mesencephalon.


Abnormal palate morphology

description: Any abnormality of the palate, i.e., of roof of the mouth.


Lack of peer relationships

description: The state of not having relationships with peers outside of school or organized activity appropriate to developmental level. This may be caused by behavioral or physical barriers.


name: Abnormal cardiomyocyte dystrophin staining

description: Anomalous staining of dystrophin in cardiomyocytes.


Trophic limb changes

description: Trophic changes occurring in a limb.


name: Reduced circulating lipoprotein(a) concentration

description: The concentration of lipoprotein(a) in the blood circulation is below the lower limit of normal. Lipoprotein(a), also known as apolipoprotein(A), is encoded by LPA (HGNC:6667).


Intradural spinal lipoma

description: Intradural spinal lipoma (ISL) constitutes approximately 1% of all spinal tumors and is usually associated with lumbo-sacral spinal dysraphism. ISLs unassociated with spinal dysraphism are rare with only a few cases being reported in literature. They are seen in children and young adults and are situated on the posterior aspect of the spinal cord in the cervico-thoracic or thoracic regions. They represent intradural, subpial, juxtamedullary lesions.


Macroprolactinoma

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


name: Aplasia/Hypoplastia of the eccrine sweat glands

description: Absence or developmental hypoplasia of the eccrine sweat glands.


voice disorders

description: A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis.


Abnormality of folate metabolism

description: An abnormality of the metabolism of folic acid, which is also known as vitamin B9.


Type II truncus arteriosus

description: Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus.


central polydactyly of fingers

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


Abnormal internal genitalia

description: An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).


Glomerular basement membrane wrinkling

description: Irregular folding of the glomerular basement membrane with an intact lamina densa.


Osteolytic defect of thumb phalanx

description: Dissolution or degeneration of bone tissue of one or more phalanges of the thumb.


name: Anomalous origin of the left circumflex artery from the right coronary artery

description: An abnormal origin of the left circumflex artery (LCX) from the right coronary artery. Normally, the left anterior descending (LAD) and the LCX arise from a common stem, the left main coronary artery (LMCA).


Small for gestational age

description: Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.


Somatosensory-induced seizure

description: A somatosensory reflex seizure is a seizure precipitated by somatic stimulation of a specific part of the body in the absence of startle or surprise.


name: Cortical radial artery intimal mucoid edema

description: Accumulation of edematous extracellular matrix in the intima of the cortical radial artery (also known as the interlobular artery) of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining.


Abdominal obesity

description: Excessive fat around the stomach and abdomen.


isolated familial wooly hair disorder

description: Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair.


Abnormality of nasalis muscle

description: An abnormality of a nasalis muscle.


name: Abnormality of circulating cortisol level

description: An abnormality of the concentration of cortisol in the blood.


Nailfold capillary tortuosity

description: An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels.


Decreased level of heparin co-factor II

description: An abnormality of coagulation related to a decreased concentration of heparin co-factor II


Gallop rhythm

description: In the normal heart cycle, two heart sounds can be heard by auscultation per cycle: S1 and S2. A gallop rhythm refers to the presence of three or four heart sounds per cardiac cycle, which is said to resemble the gallop of a horse.


Reduced functional residual capacity

description: An abnormal reduction in the volume remaining in the lungs after a normal, passive exhalation.


Civatte bodies

description: Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant


patent foramen ovale

description: A persistent opening in the atrial septum after birth. While a normal part of fetal circulation, the foramen ovale should close once the newborn begins breathing and the pressure in the left atrium exceeds that of the right atrium. While a PFO is generally asymptomatic, it can lead to the passage of clots from the venous circulation into the artierial circulation, resulting in paradoxical emboli, and possible strokes.


Lateral venous anomaly

description: Persistence of the embryonic dorsal or sciatic vein system that normally should have involuted around the tenth to twelfth week of intrauterine life.


name: Entrapment neuropathy of the ulnar nerve at elbow

description: An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand.


name: Abnormal epiphysis morphology of the phalanges of the hand

description: Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).


name: Decreased circulating free fatty acid level


Vulvar hemangioma

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


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

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


Enlarged fetal cisterna magna

description: The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vermis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (PMID:16100637).


name: Abnormal interpretation of external stimuli

description: Abnormal perception of reality is characterized by an abnormal or inaccurate experience of external stimuli.


name: Sclerosis of the middle phalanx of the 3rd finger


Submandibular lymph node enlargement

description: Increased size of the lymph nodes that are located beneath the mandible (lower jaw).


name: Abnormal cardiovascular system physiology

description: Abnormal functionality of the cardiovascular system.


Sclerosis of 5th toe phalanx

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


Neonatal focal tonic seizure

description: Neonatal focal tonic seizure is a type of neonatal electro-clinical tonic seizure with a focal sustained increase in muscle tone, lasting a few seconds to minutes.


Pituitary gonadotropic cell adenoma

description: A type of pituitary adenoma that produces gonadotropins.


Vacuolated hepatocytes

description: Presence of vacuoles (membrane-bound organelles that areempty of cytoplasm, lined with a membrane, and filled with fluid) in hepatocytes, which normally rarely contain vacuoles.


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

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


Distal ulnar epiphyseal stippling

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


name: Reduced epidermal bullous pemphigoid antigen 1 protein expression

description: Lower than normal amount of bullous pemphigoid antigen 1 (BP230) in the epidermis.


Abnormal location of ears

description: Abnormal location of the ear.


name: Elevated forced expiratory volume in one second

description: An increase in the amount of air a person can forcefully expel in one second, compared to some standard or previous measure of same subject.


Dysplastic corpus callosum

description: Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium.


Agenesis of permanent molar

description: Agenesis of secondary molar tooth.


Hypoisoleucinemia

description: A decreased amount of isoleucine in the blood.


name: Incomplete partition of the cochlea type I

description: Incomplete partition I is also known as cystic cochleovestibular malformation, where the cochlea has no bony modiolus, resulting in an empty cystic cochlea. This is accompanied by a dilated cystic vestibule with developmental arrest at the fifth week of gestation.


Unusual infection by anatomical site

description: An unusual infection classified by the affected body part.


name: Aplasia/Hypoplasia of the distal phalanx of the 4th finger


Left atrial fibrosis

description: Atrial fibrosis is an hallmark of atrial structural remodelling, characterized by the aberrant activation, proliferation and differentiation of fibroblasts, and subsequent excessive synthesis and irregular deposition of extracellular matrix proteins.


Progressive flexion contractures

description: Progressively worsening joint contractures.


Curved hallux phalanx

description: A deviation from the normal straight form of one or more phalanges of the big toe.


Abnormality of bone mineral density

description: This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.


progressive osseous heteroplasia

description: A rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.


name: Impaired ADP-induced platelet aggregation

description: Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP.


name: Increased glucose-6-phosphate dehydrogenase level in leukocytes

description: An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes.


name: Elevated CD4-positive, CD25-positive regulatory T cell count

description: An increased number of CD4-positive, CD25-positive regulatory T cells.


name: Agenesis of permanent mandibular lateral incisor


Tympanic membrane bulla

description: Presence of blisters (bullae) on the tympanic membrane, often accompanied by fever, thickening, and erythematous appearance of the tympanic membrane, decreased or absent light reflex, and decreased mobility.


Colonic stenosis

description: A narrowing of a segment of colon whereby bowel continuity is maintained.


name: Abnormality of depressor labii inferioris

description: An abnormality of a depressor labii inferioris.


hypnic headache

description: Conditions in which the primary symptom is headache and the headache cannot be attributed to any known causes.


Respiratory infections in early life

description: Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections.


Abnormal dermatoglyphics

description: An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.


Fat malabsorption

description: Abnormality of the absorption of fat from the gastrointestinal tract.


name: Elevated circulating soluble CD25 concentration

description: Increased concentration of the interleukin-2 receptor alpha-chain (CD25) in the blood circulation. CD25 is shed upon immune activation. Increased levels of soluble CD25, therefore, are an indication of an on-going immune response.


Abnormal arcuate vein lumen morphology

description: Abnormal structural characteristics of the interior space (lumen) of the arcuate vein of the kidney.


name: Ubiquitin-positive cerebral inclusion bodies

description: Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain.


Increased T cell count

description: An abnormal increase in the total number of T cells detected in the blood.


name: Seizure precipitated by febrile infection

description: Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age.


Scapular muscle atrophy

description: Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle.


Neck flexor weakness

description: Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).


Stiff shoulders

description: Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity.


name: Abnormal phalangeal joint morphology of the hand


Tracheal bronchus

description: Aberrant or accessory bronchus supplying the upper lobe originating from the lateral wall of the trachea. The tracheal bronchus is more commonly right-sided, has a variable length and may be blind-ended. Two common types of tracheal bronchus are: supernumerary and displaced.


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

description: An abnormal proportion of central memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.


McConnell sign

description: Severe hypokinesia of the mid-free wall of the right ventricle of the heart with a normal contraction of the apical segment of the right ventricle.


Malaligned philtral ridges

description: Absence of the usual parallel position of philtral ridges.


name: Sonographic non-visualized fetal bladder

description: Inability to visualize the fetal bladder on targeted prenatal sonography examination. The fetal bladder can be visualized with sonography as a midline, fluid-filled structure in the pelvis as early as 10-12 weeks of gestation. The normal fetus voids at least once an hour but never completely empties the urinary bladder. The fetal bladdder should be consistently imaged after 13 weeks of gestation.


Shoulder adduction contracture

description: A type of shoulder contracture characterized by a chronic reduction in the active and passive ability to abduct the shoulder. This results in the shoulders being closer to midline. The affected individual is not able to position the shoulders away from the body.


Ketotic hypoglycemia

description: Low blood glucose is accompanied by elevated levels of ketone bodies in the body.


Abnormal glucagon level

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


Shuffling gait

description: A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground.


Hazardous alcohol use

description: Hazardous drinking is defined as a quantity or pattern of alcohol consumption that places individuals at risk for adverse health events. This could include alcohol use despite potentially hazardous or risky consequences, such as operating heavy machinery or drunk driving.


Neck pterygia

description: Pterygia affecting the neck.


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

description: Complete duplication of the distal phalanx of index finger.


Focal aware pedal automatism seizure

description: A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset and during which awareness is fully retained throughout. 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.


Hypoplastic fifth fingernail

description: A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger.


univentricular heart

description: Univentricular heart (UVH) is a severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities.


name: Focal impaired awareness hemiclonic seizure

description: A focal hemiclonic seizure in which awareness is impaired at some point during the seizure.


Asparaginuria

description: An increased concentration of asparagine in the urine.


name: Impaired visually enhanced vestibulo-ocular reflex

description: The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR).


isolated sulfite oxidase deficiency

description: Abnormally reduced sulfite oxidase level.


name: Absent bronchoalveolar surfactant-protein C

description: Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseases, pathogenetically related to the alveolar surfactant region.


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


Bifid uterus

description: The presence of a bifid uterus.


Lower limb undergrowth

description: Leg shortening because of underdevelopment of one or more bones of the lower extremity.


Progressive bowing of long bones

description: Progressive bending or abnormal curvature of a long bone.


Long fibula

description: Disproportionately long fibulae.


Abnormal QRS voltage

description: Abnormal amplitude of the QRS complex of the electrocardiogram (EKG).


name: Elevated circulating oleylcarnitine concentration

description: Increased concentration of oleylcarnitine in the blood circulation.


name: Elevated circulating cholesterol sulfate concentration

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


Anti-Ro/SS-A antibody positivity

description: The presence of autoantibodies in the blood circulation that react against Ro/SSA autoantigens.


NREM parasomnia

description: A parasomnia that occurs during non-rapid eye movement (NREM) sleep.


name: Irregular septal thickening on pulmonary HRCT

description: Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture.


Fractured epiphysis

description: A partial or complete breakage of the epiphysis.


Abnormality of palatoglossus muscle

description: An abnormality of a palatoglossus muscle.


name: Contracture of the metatarsophalangeal joint of the 4th toe

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


Abnormal 3rd finger morphology

description: An anomaly of the third finger.


description: The presence of autoantibodies (immunoglobulins) in the serum that react against glycoprotein-210.


Sclerosis of 3rd toe phalanx

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


name: Cone-shaped epiphyses of the distal phalanges of the hand


Abnormality of joint mobility

description: An abnormality in the range and ease of motion of joints across their normal range.


Transient decreased circulating IgG2

description: A temporary reduction beneath the normal level of total immunoglobulin G2 (IgG2) in the blood circulation.


Cardiac rhabdoid tumor

description: A rare and aggressive neoplasms developing mainly in the kidney but also in cerebral and extra-cerebral tissues and rarely in the heart. Histologically, rhabdoid renal and extrarenal tumors share common characteristics. The cells are polygonal, with eccentric, vesicular nuclei and prominent nucleoli, eosinophilic cytoplasmic inclusions. The tumors have an infiltrative growth pattern, necrosis, and high proliferative index. The immunohistochemistry tools of investigation facilitate differential diagnosis by showing loss of INI-1 expression, usually accompanied by germline mutations of the SMARCB1 gene. When INI-1 is still expressed in the affected tissues, a rhabdoid tumor with SMARCA4 mutations should be considered.


name: Complete duplication of the distal phalanx of the 3rd finger

description: Complete duplication of the distal phalanx of middle finger


name: Decreased glucose-6-phosphate dehydrogenase level in red blood cells

description: A decrease in the level of glucose-6-phosphate dehydrogenase in red blood cells.


name: Intracranial internal carotid artery dissection

description: A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall.


name: Aplasia/Hypoplasia of the distal phalanx of the 5th toe


Unilambdoid synostosis

description: Premature synostosis of only one lambdoid suture.


Typical absence seizure

description: A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event.


Negativism

description: Opposing or not responding to instructions or external stimuli.


Synostosis of thumb phalanx

description: Fusion of a phalanx of the thumb with another bone.


name: Enlarged epiphysis of the 1st metacarpal

description: Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms.


Amplification of sexual behavior

description: .An abnormal increase of libido (sexual desire), typically accompanied by a higher frequency of sexual activity compared to from a person's previous norm.


Tessier number 8 facial cleft

description: The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ''Goldenhar syndrome''. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae.


name: Sclerotic humeral metaphysis with longitudinal striations


Tics

description: Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppressible and are usually associated with awareness of an urge to perform the movement.


Delayed eruption of permanent teeth

description: Delayed tooth eruption affecting the secondary dentition.


Bullet-shaped middle toe phalanx

description: An abnormal morphology of one or more middle phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Abnormal finger morphology

description: An anomaly of a finger.


Anti-Sj/ITPR1 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Sj/inositol 1,4,5-trisphosphate receptor.


Abnormal foot bone ossification

description: An abnormality of the formation and mineralization of any bone of the skeleton of foot.


Spermiation failure

description: Spermiation failure is indicated by apparently normal spermiogenesis, but the presence of retained Sd2 spermatids in stages III-V of human spermatogenesis, whereas maturation arrest is indicated by a lack of late Sd1 and Sd2 spermatids in the epithelium.


selective IgG immunodeficiency

description: A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of immunoglobulin class G (IgG). Deficiencies of IgG present variably according to subclass. IgG deficiencies are typically relative among subclasses and not absolute. Thus even with a given selective IgG subclass deficiency, total IgG levels may still fall within normal range. The clinical course and prognosis is dependent upon the severity of the deficiency and associated morbidity.


Hyposerinemia

description: Reduced concentration of serine in the blood.


Thickened Achilles tendon

description: An abnormal thickening of the Achilles tendon.


Increased fetal lens echogenicity

description: Increased echogenicity (increased brightness in the gray-scale sonography image) of the lens of a fetus.


Fracture blister

description: Fracture blister is a type of blister that forms following acute bone fractures, typically near the ankle, wrist elbow or foot, where skin adheres tightly to bone with little subcutaneous fat cushioning. The blister that results resembles that of a second degree burn.


REM sleep behavior disorder

description: A disorder characterized by episodes of vigorous and often violent motor activity during rem sleep (sleep, rem). The affected individual may inflict self injury or harm others, and is difficult to awaken from this condition. Episodes are usually followed by a vivid recollection of a dream that is consistent with the aggressive behavior. This condition primarily affects adult males. (From Adams et al., Principles of Neurology, 6th ed, p393)


name: Hyperintensity of MRI T2 signal of the spinal cord

description: A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord.


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


name: Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe


Small hypothenar eminence

description: Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence.


name: Sonographic renal salt and pepper pattern

description: Heterogeneous, increased parenchymal echogenicity. This imaging appearance is caused by multiple tiny cysts smaller than or just approaching the size necessary for detection, which disrupt the echo pattern without being clearly distinguishable, and appear as white grains on renal ultrasound, mainly in a subcapsular location.


Cutis marmorata

description: A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.


name: Abnormality of the middle phalanx of the 4th finger


Alaninuria

description: An increased level of alanine in the urine.


Cortical peritubular capillaritis

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


Amyotrophy of ankle musculature

description: Atrophy of the muscles of the ankle.


Occipital cortical atrophy

description: Atrophy of the occipital cortex.


Mild proteinuria

description: Mildly increased levels of protein in the urine (150-500 mg per day in adults).


Glomerular pseudocrescent

description: Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact.


Abnormal number of permanent teeth

description: The presence of an altered number of of permanent teeth.


name: Renal tubular epithelial cell hyaline droplets

description: Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell.


Subcutaneous lipoma

description: The presence of subcutaneous lipoma.


Prominent veins on trunk

description: Prominent thoracic and abdominal veins.


name: Osteolytic defects of the distal phalanx of the 4th finger

description: Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger.


name: Fragmentation of the epiphyses of the hallux


EEG with generalized slow activity

description: Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


Class II obesity

description: Obesity with a body mass index of 35 to 39.9 kg per square meter.


Large earlobe

description: Increased volume of the earlobe, that is, abnormally prominent ear lobules.


Renal cortical hyperechogenicity

description: Increased echogenecity of the kidney cortex.


name: Abnormal circulating keto acid concentration

description: A deviation from the normal concentration of a keto acid in the blood circulation. Keto acids or ketoacids are organic compounds that contain a carboxylic acid group and a ketone group.


Bilateral trilobed lung

description: Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes.


Neuronal loss in basal ganglia

description: A reduction in the number of nerve cells in the basal ganglia.


Pulmonary air embolism

description: Venous air embolism is a consequence of air being introduced into the venous circulation, and subsequently to the right heart, and pulmonary circulation. When small amounts of air reach pulmonary circulation they can be removed by gas diffusion across the arteriolar wall into the alveoli, amounts of gas exceeding 50 ml can cause pulmonary outflow tract obstruction with or without concomitant arterial embolisation.


Absence of lymph node germinal center

description: Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses.


Aplasia of the right hemidiaphragm

description: Congenital absence of the right-sided diaphragm.


Hypoplastic distal radial epiphyses

description: Underdevelopment of the distal epiphysis of the radius.


name: Aplasia of the distal phalanx of the 5th toe


1-3 toe syndactyly

description: Syndactyly with fusion of toes one to three.


Neonatal hypoproteinemia

description: A neonatal decreased concentration of proteins in the blood.


Bridged palmar crease

description: A crease that connects the proximal and distal transverse palmar creases.


Abnormal knee morphology

description: A structural abnormality of the knee joint or surrounding structures.


name: Increased proportion of naive CD8 T cells

description: An abnormally increased proportion of naive CD8 T cells relative to the total number of T cells.


Elevated CSF beta-alanine concentration

description: The concentration of beta-alanine present in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Cartilaginous tracheobronchomalacia

description: Softening of the tracheal and/or bronchial cartilage resulting in segmental tracheal and/or bronchial weakness.


Increased HDL3b concentration

description: An elevation above the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.


Increased circulating progesterone

description: An elevated concentration of progesterone in the blood.


name: Steroid-sensitive nephrotic syndrome with infrequent relapses

description: A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period.


skin vascular disease

description: A disease that involves the superficial vasculature.


Juxtaphrenic peak

description: A juxtaphrenic peak is a small triangular opacity based at the apex of the dome of a hemidiaphragm, associated with upper lobe volume loss of any cause (eg, postirradiation fibrosis or upper lobectomy). It is most readily appreciated on a frontal chest radiograph. The peak is caused by upward retraction of the inferior accessory fissure or an intrapulmonary septum associated with the pulmonary ligament.


Abnormality of the incus

description: An abnormality of the incus, an ossicle in the middle ear.


Aplasia/hypoplasia of the extremities

description: Absence (due to failure to form) or underdevelopment of the extremities.


Bilateral wrist flexion contracture

description: A chronic loss of wrist joint motion on the right and left sides.


name: celiac artery stenosis from compression by median arcuate ligament of diaphragm

description: A vascular compression syndrome attributed to celiac trunk compression by the median arcuate ligament of the diaphragm, with presentations ranging from completely asymptomatic to myriad gastrointestinal symptoms, including chronic abdominal pain (CAP), post-prandial pain, nausea and vomiting, anorexia, early satiety, and subsequently weight loss.


name: Triangular epiphyses of the distal phalanges of the hand


Glenoid fossa hypoplasia

description: Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus.


name: Cone-shaped epiphysis of the distal phalanx of the 2nd finger

description: A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.


name: Focal aware autonomic seizure with erection

description: A focal autonomic seizure with erection characterized by retained awareness throughout the seizure.


name: Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine

description: A reduced ability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.


synovial sarcoma

description: Synovial sarcoma is an aggressive soft tissue sarcoma, occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name).


Focal manual automatism seizure

description: A type of focal automatism seizure characterized by manual automatisms at onset.


Nasal flaring

description: Widening of the nostrils upon inhalation as a manifestation of respiratory distress.


infantile digital fibromatosis

description: A rare benign neoplasm arising from the soft tissues of the digits, in young children. It is characterized by the presence of fibroblastic spindle cells, and intracytoplasmic eosinophilic spherical inclusions.


Vascular malformation of the lip

description: An anomaly of blood vessels located in the lip.


Multiple rib fractures

description: More than one fracture of the ribs. Callus formation around multiple rib fractures can produce a row of multiple rounded expansions (beadlike prominences) giving the appearance of beaded ribs. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib.


Duplicate uterine cervix

description: A congenital developmental defect characterized by the presence of two cervices on the uterus.


name: Aplasia/Hypoplasia of the distal phalanges of the toes

description: Absence or underdevelopment of the distal phalanges of the toes.


name: Osteomyelitis leading to amputation due to slow healing fractures


Abnormal arterial physiology

description: An anomaly of arterial function.


Trifascicular block

description: Abnormal conduction in all three divisions of the intraventricular conducting tissue.


name: Glomerular parietal epithelial cell hypertrophy

description: An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present


Abnormal CSF lactate concentration

description: Abnormal concentration of lactate in the cerebrospinal fluid.


Loud snoring

description: Snoring at a particularly loud or abnormally high volume.


description: Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains.


Congenital hydrocele

description: Congenital hydrocele occurs when processus vaginalis is patent and communicates with the peritoneal cavity. This communication allows the movement of peritoneal fluid but is too small to allow the intra-abdominal contents to herniate through.


Fetal megacystis

description: Fetal megacystis is an abnormally enlarged bladder identified at any gestational age.


Equinus calcaneus

description: Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees.


name: Pseudoepiphysis of the middle phalanx of the 4th toe

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


name: Aplasia/hypoplasia of the proximal phalanx of the 4th toe

description: Absence (agenesis) or underdevelopment of the proximal phalanx of the 4th toe.


Anti-GM4 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM4.


name: Abnormal dermoepidermal junction morphology

description: Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments.


Abnormal layering of muscularis propria

description: Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer.


Complex febrile seizure

description: A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period.


Continuous diaphragm sign

description: This sign is seen in pneumomediastinum in which air accumulates between the lower border of the heart and the superior part of the diaphragm, which results in complete visualization of the diaphragm in chest X-ray, hence named continuous diaphragm sign.


Hypodipsia

description: Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake.


name: Abnormal circulating calcium concentration

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


Excessive shyness

description: Atypically high degree of awkwardness or apprehension experienced when approaching or being approached by others.


Decreased numbers of nephrons

description: A reduction in the count of nephrons per kidney.


name: Bracket epiphysis of the proximal phalanx of the hallux

description: The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form.


Abnormality of the calcaneus

description: An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel.


Centrilobular emphysema

description: A type of emphysema characterized by destroyed centrilobular alveolar walls and enlargement of respiratory bronchioles and associated alveoli. This is the commonest form of emphysema in cigarette smokers. CT findings are centrilobular areas of decreased attenuation, usually without visible walls, of nonuniform distribution and predominantly located in upper lung zones.


Crus of helix connected to antihelix

description: Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix.


Downturned corners of mouth

description: A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.


Arcuate vein lumen organized thrombi

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


Copper accumulation in liver

description: An anomalous build up of copper (Cu) in the liver.


Overfolded helix

description: A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.


name: Ivory epiphysis of the proximal phalanx of the hallux


Abnormal thorax morphology

description: Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).


Joint subluxation

description: A partial dislocation of a joint.


Pseudoepiphysis of the 4th metacarpal

description: The normal epiphysis of the fourth metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.


Complete duplication of phalanx of hand

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


Abnormal cardiac ventricle morphology

description: An abnormality of a cardiac ventricle.


laurin-Sandrow syndrome

description: Laurin-Sandrow syndrome (LSS) is characterized by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.


Nevus roseus

description: A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life.


Pulmonary pneumatocele

description: A pneumatocele is a thin walled, gas-filled space in the lung. It is most frequently caused by acute pneumonia, trauma, or aspiration of hydrocarbon fluid and is usually transient. The mechanism is believed to be a combination of parenchymal necrosis and check-valve airway obstruction. A pneumatocele appears as an approximately round, thin-walled airspace in the lung.


Total anosmia

description: Inability to detect any qualitative olfactory sensation.


name: Abnormality nasal septum cartilage morphology

description: An abnormality of a cartilage of nasal septum.


Legg-Calve-Perthes disease

description: A hip region disease that is characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible.


Displacement of the papillary muscles

description: Abnormal location of the insertion of a papillary muscle into the left ventricular wall.


Submucous cleft lip

description: A cleft of the lip with overlying mucous membrane.


EEG with focal epileptiform discharges

description: EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


name: Abnormal glomerular basement membrane morphology

description: Any abnormal sttructure of the glomerular basement membrane.


Rubral tremor

description: Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements.


Fusiform abdominal aortic aneurysm

description: A concentric abnormal localized widening (dilatation) of the abdominal aorta that involves the full circumference of the vessel wall


Tip-toe gait

description: An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.


name: Abnormality of the upper respiratory tract

description: An abnormality of the upper respiratory tract.


Irregular myelin loops

description: Presence of irregular redundant loops of focally folded myelin in a peripheral nerve.


adenoiditis

description: An inflammatory disease involving a pathogenic inflammatory response in the pharyngeal tonsil.


name: Small epiphysis of the proximal phalanx of the 3rd finger

description: Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms.


Lower limb muscle weakness

description: Weakness of the muscles of the legs.


Asplenia

description: Absence (aplasia) of the spleen.


chondrosarcoma

description: A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion.


name: Abnormal circulating fetuin A concentration

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


name: Decreased circulating apolipoprotein A-II concentration

description: Concentration of apolipoprotein A-II below the lower limit of normal.


name: Cone-shaped epiphysis of the distal phalanx of the 2nd toe


Abnormal peripheral myelination

description: An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense.


cannabis dependence

description: Physical and psychological dependence on the drug cannabis.


name: Anti-human ferritin peptide antibody positivity

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