name: Contracture of the distal interphalangeal joint of the 5th finger

description: Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue.


Tibial arterial calcification

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

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


Pulmonary chondroma

description: A benign cartilaginous tumors of the lung.


Hypertyrosinemia

description: An increased concentration of tyrosine in the blood.


name: Abnormal distribution of cell junction proteins in buccal mucosal cells

description: An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43.


Ectopic adrenal gland

description: Abnormal anatomical location of the adrenal gland.


Increased urine urobilinogen

description: An elevated concentration of urobilinogen in the urine.


oophoritis

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

description: Inflammation of the ovary, generally caused by an ascending infection of organisms from the endocervix.


name: Proximal/middle symphalangism of 5th finger

description: Fusion of the proximal and middle phalanges of the 5th finger.


name: Decreased pancreatic acinar cell density

description: Number (count) of pancreatic acinar cells reduced below normal. This feature can be ascertained by pancreas biopsy.


name: Anti-intrinsic factor antibody positivity

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


Pointed chin

description: A marked tapering of the lower face to the chin.


Diminishment of relationship seeking

description: A reduction in the tendency of a person to seek new interpersonal relationships or maintain existing relationships.


Elevated brain polyol compounds by MRS

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


Cervical hemivertebrae

description: Absence of one half of the vertebral body in the cervical spine.


name: Decreased circulating inhibin B concentration

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


Cystic medial necrosis

description: A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells.


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

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


Anetoderma

description: Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis.


name: Increased hepatitis B virus antibody level

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


name: Posterior communicating artery infundibulum

description: A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery.


Highly elevated creatine kinase

description: An increased CPK level between 4X and 50X above the upper normal level.


congenital alveolar dysplasia

description: A congenital alveolar dysplasia characterized anatomically by a defective and hypoplastic development of pulmonary alveoli that is commonly associated with atelectasis and can be responsible for atelectasis.


Increased urinary epithelial cell count

description: An increased number of epithelial cells per high-power field in urinanalysis.


Sclerosis of 4th finger phalanx

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


name: Microvillar PAS-positive secretory granules

description: The presenceaccumulationof periodic acid-Schiff (PAS) granules in the subapical region of small intenstinal microvilli, appearing as different kinds of vesicular/tubular structures.


description: Decreased proportion of immature gamma-delta T cells relative to the total number of T cells.


name: Duplication of the proximal phalanx of the thumb

description: Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Elevated urine pyrophosphate

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


name: Impaired von Willebrand factor collagen binding activity

description: Reduced ability of von Willebrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers.


Agenesis of premolar

description: Agenesis of premolar tooth.


name: Orofacial action-specific dystonia induced by speech


Focal aware myoclonic seizure

description: A type of focal myoclonic seizure during which awareness is fully retained throughout.


name: Intermittent episodes of respiratory insufficiency due to muscle weakness


Chin with horizontal crease

description: Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest.


name: Complete duplication of the middle phalanx of the 4th toe

description: Complete duplication of middle phalanx of fourth toe.


name: Contracture of the distal interphalangeal joint of the 2nd toe

description: The distal interphalangeal joint of the 2nd toe cannot be straightened actively or passively.


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


Stiff interphalangeal joints

description: Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity.


Abnormally folded helix

description: Any structural anomaly of the border of the helix, which usually forms a rolled rim but is highly variable in shape.


name: Shortening of all distal phalanges of the fingers

description: Hypoplasia of all of the distal phalanx of finger.


Agenesis of second permanent molar

description: Agenesis of either mandibular second permanent molar or maxillary second permanent molar.


name: Glomerular PLA2R immune-complex deposition

description: Accumulation of immune deposits, containing auto-antibodies against the podocyte antigen M-type phospholipase A2 receptor (PLA2R) in intraglomerular locations.


name: Patchy sclerosis of the proximal phalanx of the 5th finger

description: Patchy increase in bone density of the proximal phalanx of the 5th finger.


Decreased circulating IgE

description: An abnormally decreased level of immunoglobulin E (IgE) in blood.


cervical intraepithelial neoplasia

description: Squamous or glandular intraepithelial neoplasia that affects the cervical mucosal epithelium. There is no evidence of stromal invasion. According to the degree of cellular atypia and the associated architectural changes, it is classified as low or high grade.


Early cutaneous photosensitivity

description: Photosensitivity of the skin occurring early in life.


gait apraxia

description: Impaired ambulation not attributed to sensory impairment or motor weakness. frontal lobe disorders; basal ganglia diseases (e.g., parkinsonian disorders); dementia, multi-infarct; alzheimer disease; and other conditions may be associated with gait apraxia.


Photosensitive myoclonic seizure

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


name: Elevated circulating deoxyuridine concentration

description: Concentration of 2-deoxyuridine in the blood circulation is above the normal range.


Cotard delusion

description: A false belief that you or your body parts are dead, dying, or do not exist.


Broad palm

description: For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.


Absent crus of helix

description: Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha.


Incomplete cleft hard palate

description: Cleft hard palate in which the cleft does not go through the entire length of the hard palate, ie. the cleft does not go from the incisor foramen to the anterior border of the soft palate.


blood vessel neoplasm

description: A neoplasm arising from arteries or veins.


Homoargininuria

description: An increased amount of homoarginine in the urine. Homoarginine is a nonproteinogenic alpha amino acid.


Increased level of ribose in urine

description: An increase in the level of ribose in the urine.


Ewing sarcoma

description: A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms.


name: Abnormal inferior thyroid vein morphology

description: An abnormality of an inferior thyroid vein.


Archibald's sign

description: Shortening of the fourth and fifth metacarpals when the fist is clenched.


Parathyroid hypoplasia

description: Developmental hypoplasia of the parathyroid gland.


name: Increased level of L-pyroglutamic acid in urine

description: An increase in the level of L-pyroglutamic acid in the urine.


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


Pulmonary lymphangiectasia

description: Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid.


name: Cortical radial artery intraluminal thrombi

description: Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen within the interior space of cortical radial arteries (interlobular arteries) of the kidney.


Fourth heart sound

description: The fourth heart sound (S4) is a low-pitched sound that occurs just before the first heart sound (S1) when the atria contract to force blood into the left ventricle, that is, coincident with late diastolic filling of the ventricle due to atrial contraction.


Myocardial late gadolinium enhancement

description: Areas of high signal intensity in magnetic resonance imaging of the heart appearing 10 to 15 minutes after injection of the intercellular contrast agent gadolinium.


name: Increased circulating very long-chain fatty acid concentration

description: Increased concentation of very long-chain fatty acids in the blood circulation. Very long-chain fatty acids are fatty acids (FAs) with a chain-length of 22 or more carbons.


description: Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina.


Convex contour of sole

description: The contour of the foot in lateral profile has a convex shape.


Urethral atresia, female

description: Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females.


spondylosis, cervical

description: Arthritis of the cervical spine.


name: Abnormal circulating thyroid hormone concentration

description: Any deviation from the normal range of the hormones produced by the thyroid gland.


Renal arteriolar intraluminal thrombi

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


familial dermatographia

description: Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment may involve use of antihistamines if symptoms do not go away on their own.


Widened atrophic scar

description: An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility.


Abnormal language feature

description: The presence of any atypical form of expressive language.


Enlarged Eustachian valve

description: An abnormally large Eustachian valve (postnatally). The Eustachian valve is also known as the valve of the inferior vena cava, and is an embryologic remnant of the valve of the inferior vena cava.


acute megakaryoblastic leukemia

description: Acute megakaryoblastic leukemia (AMKL) is a form of acute myeloid leukemia (AML) that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis.


name: Rhomboid or triangular shaped 5th finger middle phalanx

description: Rhomboid or triangular shaped 5th (little) finger middle phalanx.


name: Elevated circulating pipecolic acid concentration

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


name: Elevated urine 2-methylacetoacetic acid level

description: Amount of 2-methylacetoacetic acid in the urine above upper limit of normal.


CSF pleocytosis

description: An increased white blood cell count in the cerebrospinal fluid.


Thickening of glomerular capillary wall

description: Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself.


name: Elevated left ventricular end-diastolic diameter

description: The LV end-diastolic internal diameter was measured from two-dimensional (2D) images in the parasternal long-axis view, timed with mitral valve closure at the level of the mitral valve chordae.


Flexion contracture of the 2nd finger

description: Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected.


congenital coronary artery anomaly

description: Any structural abnormality of the coronary arteries.


name: Triangular epiphysis of the proximal phalanx of the hallux


Lumbar platyspondyly

description: A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the lumbar spine.


name: Eye of the tiger anomaly of globus pallidus

description: The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity of the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. The sign is thought to represent iron accumulation in the globus pallidus.


fallopian tube neoplasm

description: A benign or malignant neoplasm affecting the fallopian tube. Representative examples of benign neoplasms include papilloma, adenofibroma, and leiomyoma. Representative examples of malignant neoplasms include carcinoma, carcinosarcoma, and adenosarcoma.


Triceps weakness

description: A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements.


Penetrating aortic ulcer

description: A focal defect in the elastic lamina of the aortic wall that leads to localized medial disruption and potential rupture.


name: anomalous left coronary artery from the pulmonary artery

description: A congenital coronary vessel anomaly in which the left main coronary artery originates from the pulmonary artery instead of from aorta. The congenital heart defect typically results in coronary artery fistula; left-sided heart failure and mitral valve insufficiency during the first months of life.


Short distal phalanx of the 5th finger

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


Abnormal renal glomerulus morphology

description: A structural anomaly of the glomerulus.


name: Duplication of the distal phalanx of the 3rd finger

description: Partial or complete duplication of the distal phalanx of middle finger.


Hypoplasia of latissimus dorsi muscle

description: Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula.


Disturbed perception with a stimulus

description: A perceptual experience in which an individual's perception of sensory stimuli is altered or disrupted in some way, resulting in abnormal or distorted sensory perceptions despite the presence of actual external stimuli.


Sclerotic vertebral body

description: Increase in bone density of the vertebral body.


Slender finger

description: Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.


name: Fractured middle phalanx of manual digit 3

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


name: Small epiphyses of the distal phalanges of the hand


name: Acute disseminated intravascular coagulation

description: An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed.


Rete ridge flattening

description: Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance.


Sclerosis of 3rd finger phalanx

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


name: Triangular shaped distal phalanx of the 4th finger

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


Motor axonal neuropathy

description: Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg.


name: Increased circulating selenium concentration

description: An increased concentration of selenium in the blood circulation.


Anagen effluvium

description: An abnormal loss of anagen (growth phase) hairs.


name: Focal aware cognitive seizure with anomia

description: A focal cognitive seizure with anomia characterized by retained awareness throughout the seizure.


Transient decreased circulating IgA

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


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


Abnormal mouth floor morphology

description: Any abnormality of the mouth floor.


name: Monoclonal elevation of IgG lambda chain

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


Renal glomerular amyloid deposition

description: Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries.


Abnormal lower motor neuron morphology

description: Any structural anomaly of the lower motor neuron.


name: Paradoxical splitting of the second heart sound

description: Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. With paradoxical splitting, there is a delay in the closure of the aortic valve, so that A2 can follow P2; the individual components can be appreciated at the end of expiration and the interval narrows with inspiration (which is the oposite of the normal pattern).


chromhidrosis

description: A rare condition characterized by the secretion of colored sweat, caused by the deposition of lipofuscin in the sweat glands. Usually chromhidrosis affects the apocrine glands, mainly on the face and underarms.


Mucinous colorectal carcinoma

description: A subtype of colorectal carcinoma with mucin lakes.


Foramen ovale aneurysm

description: Foramen ovale aneurysm (FOA) or atrial septal aneurysm is abnormal redundancy of the atrial septum primum, with bulging of the septum by at least half the width of the atrial chamber, or by at least 10 mm beyond the level of the atrial septum. The abnormal protrusion of the interatrial septum results in decreased left atrial volume. On color Doppler there is reduced left ventricular inflow.


Subperiosteal bone resorption

description: Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone.


Suck reflex

description: A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner's finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched.


name: Transphyseal fracture of the distal humerus

description: A fracture through the distal humeral physis that separates the entire distal humeral epiphysis from the metaphysis.


Inappropriate crying

description: Uncontrolled episodes of crying occur without any apparent motivating stimuli.


Angulated antihelix

description: Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc.


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

description: Partial or complete duplication of middle phalanx of second toe.


name: Renal medullary interstitial inflammation

description: Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells.


Hypoplastic nasal septum

description: Underdevelopment of the nasal septum.


Overlapping toe

description: Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent.


name: Aplasia of the pyramids of the medulla oblongata

description: Congenital absence of the pyramids, that is, of the paired structures located at the medial aspect of the ventral medulla that flank the anterior median fissure.


Impaired heel-walking ability

description: Difficulty or reduced ability to walk on heels. Heel-walking can be tested as a part of the neurological examination. Foot dorsal extention weakness leads to difficulties in walking on heels.


Asymmetric abdominal aortic aneurysm

description: An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric).


Abnormal papillary muscle morphology

description: Any structural anomaly of the papillary muscles of the left ventricle.


rhabdoid tumor

description: An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor.


Triceps hypoplasia

description: Hypoplasia of the triceps muscle.


name: Decreased proportion of effector memory CD8-positive, alpha-beta T cells

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


name: Partial duplication of the middle phalanx of the 3rd toe

description: Partial duplication of middle phalanx of third toe.


Abnormal cerebral vascular morphology

description: An anomaly of the cerebral blood vessels.


Gastric varix

description: Extreme dilation of the submucusoal veins in the stomach.


name: Elevated CSF dihydrouracil concentration

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


Increased serum prostaglandin E2

description: An increased concentration of prostaglandin E2 in the blood.


Anti-FGFR3 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against FGFR3.


name: Corticotropin-releasing hormone deficient adrenal insufficiency

description: Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production.


name: Abnormal morphology of the limbic system

description: Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex].


name: Abnormality of the distal phalanx of the 3rd finger


name: Fixated interest with abnormal intensity

description: An abnormally intense interest in a topic or object that is not atypical for the social context of the affected person.


name: Proximal/middle symphalangism of 3rd toe

description: Bony fusion of the middle and proximal phalanges of the 3rd toe.


name: Loss of ability to walk in early childhood


Abnormality of prothrombin

description: An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade.


neurodegenerative disease

description: A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function.


Abnormal oral frenulum morphology

description: An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity.


Anti-Zic4 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Zic family member 4 (ZIC4).


name: Enlarged epiphysis of the proximal phalanx of the hallux


Delayed ossification of the hand bones

description: Ossification of hand bones is less advanced than would be expected according to age-adjusted norms.


name: Right aortic arch with left descending aorta and left ductus arteriosus


Hypoplasia of serratus anterior muscle

description: Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula.


Malformation of mandibular premolar

description: An abnormality of the morphology of secondary premolar tooth.


name: Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration

description: The concentration of 2-trans,4-cis-decadienoylcarnitine in the blood circulation is above the upper limit of normal.


Abnormal S wave

description: Any anomaly of the S wave, which is the third component of the QRS wave complex. The S wave signifies the final depolarization of the ventricles at the base of the heart.


name: Enhanced ristocetin cofactor assay activity

description: Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma.


Coronary-pulmonary artery fistula

description: A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery.


Reduced natural killer cell count

description: Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor.


hypercementosis

description: A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)


name: Focal sensory seizure with visual features

description: A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation.


Neonatal focal clonic seizure

description: Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is unilateral regularly repeating jerking involving the same muscle groups.


name: Childhood onset short-limb short stature


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

description: Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger.


Signet ring sign

description: This finding is composed of a ring-shaped opacity representing a dilated bronchus in cross section and a smaller adjacent opacity representing its pulmonary artery, with the combination resembling a signet (or pearl) ring. It is the basic sign of bronchiectasis in pulmonary computed tomography imaging.


Absent sebaceous glands

description: Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.


Abnormal Bowman capsule morphology

description: A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule.


hyperprolinemia

description: Hyperprolinemia is when there isan excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern.


Decreased circulating IgG1 level

description: A reduction in immunoglobulin levels of the IgG1 subclass in the blood circulation.


Microscopic nephrocalcinosis

description: The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma.


Maternal hyperphenylalaninemia

description: A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy.


congenital pulmonary veins anomaly

description: Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium.


Kyphoscoliosis

description: An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.


name: Aplasia of the inferior half of the cerebellar vermis


Decreased circulating renin level

description: An decreased level of renin in the blood.


name: Focal impaired awareness cognitive seizure with deja vu/jamais vu

description: A focal cognitive seizure with deja vu / jamais vu characterized by impairment of awareness at some point during the seizure.


name: Abnormal upper limb epiphysis morphology


Cardiac valve calcification

description: Abnormal calcification of a cardiac valve.


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


Metaphyseal rarefaction

description: Reduction in density of metaphyseal bony tissue.


Overfolding of the superior helices

description: A condition in which the superior portion of the helix is folded over to a greater degree than normal.


Abnormality of blood volume homeostasis

description: An abnormality in the amount of volume occupied by intravascular blood.


name: Reduced reticular lamina anchoring fibril density

description: Diminished amount of the anchoring fibrils in the basement membrane zone that normally attach the epithelium to the basement membrane.


dens evaginatus

description: Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown).


name: Stippling of the epiphyses of the 5th finger

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


Multiple joint dislocation

description: Dislocation of many joints.


name: Arcuate artery endoarterial foam cell hypercellularity

description: A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen.


Acute hepatic steatosis

description: An acute form of hepatic steatosis.


Macroorchidism

description: The presence of abnormally large testes.


Nail psoriasis

description: Psoriatic nail abnormality characterized by the presence of neutrophils in the nail bed epithelium, hyperkeratosis with parakeratosis, presence of exudates on the corneal epithelium, focal hypogranulosis and psoriasiform hyperplasia of the nail bed.


Flared distal fibular metaphysis

description: The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula.


Amelia involving the upper limbs

description: Amelia of one or both upper limbs.


Anti-H3-H4 antibody positivity

description: The presence of autoantibodies in the blood circulation that react against the H3-H4 histone dimer.


Abnormal incisura morphology

description: An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus.


Redundant neck skin

description: Excess skin around the neck, often lying in horizontal folds.


Reduced sperm motility

description: An abnormal reduction in the mobility of ejaculated sperm.


Diminishment of sexual behavior

description: A reduction of libido (sexual desire), typically accompanied by a reduction in the frequency of sexual activity , and/or activity compared to the affected individual's previous state.


corpus callosum lipoma

description: A rare benign adipose tissue neoplasm of the corpus callosum.


Abnormal parathyroid morphology

description: A structural abnormality of the parathyroid gland.


name: Premature epimetaphyseal fusion in tibia

description: Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the tibia, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.


name: Reduced sex -hormone binding protein level

description: A decreased concentration of sex-hormone binding protein in the circulation.


Knee contracture

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


Facial nerve compression

description: Impingement of another object such as a blood vessel upon the facial nerve, causing it to lose volume in the compressed region.


Amplification of social interactions

description: A increase in the tendency of a person to seek or maintain social connections or interactions with others compared to previous norms for an individual.


name: Focal impaired awareness cognitive seizure with forced thinking

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


Hyperosthenuria

description: An abnormally high urinary specific gravity, i.e., increased concentration of solutes in the urine.


Hypoplasia of the radius

description: Underdevelopment of the radius.


Irregularly shaped sperm tail

description: Irregular or changing caliber (diameter) along the tail of the sperm.


Redundant skin

description: Loose and sagging skin often associated with loss of skin elasticity.


Jaw swelling

description: Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible).


Pleural rub

description: An abnormal breath sound that is nonmusical, short and explosive. It is grating, rubbing, creaky, or leathery in character and present in both phases of respiration. Typically the expiratory component mirrors the inspiratory component. It occurs due to inflamed pleural surface rubbing each other during breathing. Clinically, it is important to differentiate it from crackles


Sexsomnia

description: Unintentional sexual behavior during sleep, such as masturbation, initiation of sex, or making sexual noises, is known as sexsomnia. Sexsomnia predominantly occurs during NREM sleep.


Limb-girdle muscle weakness

description: Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis.


Glomerular hyaline pseudothrombus

description: Intracapillary amorphous, eosinophilic material consisting of immune deposits.


name: Osteolytic defects of the distal phalanx of the 2nd finger

description: Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger.


name: Cone-shaped epiphysis of the proximal phalanx of the 3rd toe


name: Multilamellation of medullary peritubular capillary basement membranes

description: Duplicated basement membranes of the peritubular capillaries located in the medulla of the kidney and arranged in multiple concentric layers.


Decreased level of thrombomodulin

description: Thrombomodulin is a cofactor in the thrombin induced activation of Protein C. In the case of deficiency there will be less Protein C and tendency to clot


Traction bronchiectasis

description: Distortion of the bronchial airways due to mechanical traction on the bronchi resulting from fibrosis of the surrounding lung parenchyma. CT findings represent irregular bronchial dilatation caused by surrounding retractile pulmonary fibrosis. Dilated airways are usually identifiable as such but may be seen as cysts.


Abnormal sputum

description: Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin.


Elevated urinary xanthurenic acid level

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


Intense psychological distress to cues

description: Intense or prolonged psychological distress occurs when individuals are exposed to internal or external cues that symbolize or resemble an aspect of the traumatic event or events.


Intellectual disability, moderate

description: Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.


Abnormal manganese concentration

description: A deviation from the normal range of manganese in the blood circulation.


primary ciliary dyskinesia

description: A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).


Palate mass

description: A lump in the region of the palate. A mass is any lump in the body that can be caused by the abnormal growth of cells, a cyst, hormonal changes or an immune reaction. Typically a mass is an initial finding that will lead to additional workup.


name: Decreased lymphocyte proliferation in response to mitogen

description: A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA).


name: Abnormal circulating hormone concentration

description: Concentration of a hormone in the blood circulation outside of normal limits.


Glomerular subepithelial deposits

description: Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).


Intermittent hyperventilation

description: Episodic hyperventilation.


Intratubular calcium oxalate casts

description: Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney.


Hypermelanotic macule

description: A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.


White streaks/specks on enamel.

description: Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks.


Spastic monoplegia

description: Spastic weakness found in only one upper or lower extremity.


pilocytic astrocytoma

description: Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but occurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported.


Ulnar metaphyseal irregularity

description: Irregularity of the normally smooth surface of the metaphysis of the ulna.


capillary malformation

description: A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules).


Abnormal arachnoid mater morphology

description: An abnormality of the Arachnoid mater.


name: Pulmonary arterial hypertension with positive acute response to NO challenge

description: A form of pulmonary arterial hypertension in which there is a reduction of mean pulmonary artery pressure (mPAP) at leasy 10 mmHg to reach an absolute value of mPAP not more than 40 mmHg with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm.


name: Aortic smooth muscle cell disorganization

description: Nonparallel arrangement/disarray of smooth muscle cells of the aortic media creating focal/multifocal disarray or sometimes nodular aggregates of smooth muscle cells.


Abnormal superficial reflex

description: An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons.


name: Bullet-shaped middle phalanges of the hand

description: Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Abnormal dendritic cell count

description: A deviation from the normal count of dendritic cells in the peripheral blood circulation. Dendritic cells are of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative).


Carpal synostosis

description: Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).


Abnormal metatarsal ossification

description: Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years.


Recurrent enteroviral infections

description: Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection.


Angel-shaped phalanx

description: A phalangeal malformation that is termed angel-shaped phalanx (ASP), because of its resemblance to the angels used for decoration of Christmas trees. The various components of an angel-shaped phalanx are: diaphyseal cuff (wings), surrounding a meta-diaphyseal core (body), which may appear empty or structured with a cone-shaped epiphysis (skirt) and pseudoepiphysis (head).


Abnormal circle of Willis morphology

description: An anomaly of the circle of Willis, also known as the cerebral arterial circle.


Cutaneous syndactyly of toes

description: A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria.


name: Increased anti-insect IgE antibody level

description: Increased level of IgE antibody against antigens from insects such as moths, mosquitos, or cockroaches.


Abnormal clitoris morphology

description: Any structural abnormality of the clitoris.


name: Increased circulating ceruloplasmin concentration

description: Elevated concentration of ceruloplasmin in the blood circulation.


Distal tibial bowing

description: A bending or abnormal curvature of the distal portion of the tibia.


Osteochondroma

description: A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone.


name: leishmaniasis, tegumentary, susceptibility to

description: Increased susceptibility to infection by the protozan parasite of the genus Leishmania.


Reduced FEV1/FVC ratio

description: Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity).


name: Sclerosis of the proximal phalanx of the hallux


Premature epimetaphyseal fusion in hand

description: Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the hand, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.


EEG with parietal sharp slow waves

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


Abnormality of glycolysis

description: An abnormality of glycolysis.


Inferior vena cava obstruction

description: Physical invasion or compression of the inferior vena cava by a pathological process or by thrombosis within the vein itself.


name: Increased circulating inosine concentration

description: An increased concentration of inosine in the blood circulation.


name: Ivory epiphyses of the distal phalanges of the hand

description: Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


name: Abnormal TSH response to thyrotrophin-releasing hormone stimulation test

description: Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesized by, stored within, and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal response in the TRH stimulation test.


name: Abnormal glomerular mesangial matrix morphology

description: Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix.


Global proximal tubulopathy

description: A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis.


name: Parkinsonism with favorable response to dopaminergic medication

description: Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication.


Short distal phalanx of the 4th finger

description: Hypoplastic/small distal phalanx of the fourth finger.


Increased urinary potassium

description: An increased concentration of potassium(1+) in the urine.


Ventral shortening of foreskin

description: Reduction in length of the ventral (lower) skin of prepuce of penis.


Molarization of premolar

description: Increased size and molar morphology of premolar tooth.


Large foramen magnum

description: An abnormal increase in the size of the foramen magnum.


Short finger

description: Abnormally short finger associated with developmental hypoplasia.


name: autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius

description: Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum.


Aplasia/Hypoplasia of toe

description: Absence or hypoplasia of toes.


name: Bilateral asymmetric neonatal sequential seizure

description: Asymmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting asymmetrically with a variety of clinical and electrographic signs, often changing lateralization within or between seizures.


name: Triangular shaped middle phalanges of the hand


name: Aplasia/hypoplasia involving bones of the hand

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


Midline direction of ventricular apex

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


Short 2nd finger

description: Hypoplasia of the second finger, also known as the index finger.


name: Cerebellar dentate nucleus calcification

description: Pathological deposition of calcium salts in the dentate nucleus of the cerebellum.


name: Focal cognitive seizure with receptive dysphasia/aphasia

description: A focal cognitive seizure characterized by receptive dysphasia / aphasia as the initial semiological manifestation.


Mesomelia

description: Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.


Automatic atrial tachycardia

description: Chronic supraventricular tachycardia predominantly seen in childhood.


Aglossia

description: Absence of the tongue owing to a developmental abnormality.


Beta-alaninuria

description: An increased level of beta-alanine in the urine.


phosphaturic mesenchymal tumor

description: An extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues or bones. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor.


Vaginal fish odor

description: A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA).


Bladder rupture

description: A perforation in the wall of the urinary bladder. Bladder rupture, a relatively rare condition, is most commonly due to abdominal or pelvic trauma but may be spontaneous or iatrogenic in association with surgical or endoscopic procedures. In most cases, patients with bladder rupture have gross hematuria. Other symptoms of bladder rupture include pelvic pain, lower abdominal pain, and difficulty voiding.


Glomerular basement membrane lucencies

description: Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits.


Lumbar interpedicular narrowing

description: Narrowing (becoming gradually narrower) of the distance between lumbar vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column.


cardiac diverticulum

description: Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse.


Abnormality of renal excretion

description: An altered ability of the kidneys to void urine and/or specific substances.


Inattentiveness illusion

description: Instances in which individuals fail to perceive or notice salient or significant stimuli in their visual field due to a lack of attention.


Fractured proximal phalanx of digit 5

description: A partial or complete breakage of the proximal phalanx of digit 5.


Uraciluria

description: Increased concentration of uracil in the urine.


Cranial asymmetry

description: Asymmetry of the bones of the skull.


Portal vein hypoplasia

description: A developmental defect characterized by underdevelopment of hte portal vein.


Decreased pineal volume

description: An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland.


name: Triangular shaped phalanges of the 4th toe


Renal vasculitis

description: Vasculitis (inflammation of blood vessels) in the kidney. Renal vasculitis can be observed with numerous disorders and presents clinically as rapidly progressive glomerulonephritis (RPGN) which is characterized by acute kidney injury (AKI), haematuria and proteinuria. Histological examination of the kidney reveals severe inflammation in the form of crescent formation, glomerular necrosis and vasculitis of small and medium sized vessels within the kidney.


Duplication of phalanx of toe

description: Partial/complete duplication of one or more phalanx of toe.


Abnormality of the midnasal cavity

description: Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae.


name: Pubertal developmental failure in females


Compression-fractured cervical vertebra

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


Cortical radial artery endotheliosis

description: Enlargement of endothelial cells of the cortical radial arteries (also known as the interlobular arteries) of the kidney because of cytoplasmic swelling.


Semantic dementia

description: A progressive loss of the ability to remember the meaning of words, faces and objects.


Congenital stapes ankylosis

description: A form of stapes ankylosis with congenital onset.


name: Focal impaired awareness sensory seizure with somatosensory features

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


name: Decreased urine alpha-ketoglutarate concentration

description: A lower than normal concentration of 2-oxoglutaric acid in the urine.


Aplasia/Hypoplasia of the colon

description: Congenital absence or underdevelopment of the colon.


Absent specific antibody response

description: Absence of specific immunoglobulins directed against a specific antigen or microorganism.


pineoblastoma

description: Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis.


Thymic cyst

description: A closed sac of tissue (cyst) located in the thymus. Thymic cysts are a rare, benign anomaly, are usually asymptomatic, and mostly occur in the anterior mediastinum .


Anti-Lrp4 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against low-density lipoprotein receptor (Lrp4).


name: Symphalangism affecting the distal phalanx of the 3rd toe


Cutaneous telangiectasia

description: Dilated blood vessels on the skin.


description: Neonatal bilateral asymmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs asymmetrically at both sides of the body.


name: Elevated brain gamma-aminobutyric acid by MRS

description: An increase in the level of gamma-aminobutyric acid (GABA) in the brain identified by magnetic resonance spectroscopy (MRS).


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

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


Ivory epiphysis of the 1st metacarpal

description: The epiphysis of the 1st metacarpal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs.


name: Symphalangism affecting the proximal phalanx of the 2nd finger

description: Fusion of the proximal phalanx of the 2nd finger with another bone.


Decreased CD4:CD8 ratio

description: An abnormal reduction of the relative proportion of CD4+ to CD8+ T cells.


Palmoplantar erythema

description: Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin.


Absent nail of hallux

description: Absent nail of big toe.


Testicular ischemia

description: Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the tissue. Clinical manifestations may include pain and swelling of the affected testis.


Anti-GAD65 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamic acid decarboxylase 65 (GAD65).


Elevated urinary dopamine level

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


Abnormal CSF carnosine concentration

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


primary central nervous system lymphoma

description: A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis.


name: Antidromic atrioventricular reentrant tachycardia

description: A type of atrioventricular reentrant tachycardia (AVRT) where the accessory pathway is used for anterograde conduction and the atrioventricular node for retrograde conduction.


name: Focal impaired awareness automatism seizure

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


anotia

description: A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development.


name: Abnormal greater sciatic notch morphology

description: An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.


name: Elevated prostate-specific antigen level

description: An increased concentration of prostate specific antigen (PSA) in the circulation.


Aplasia/Hypoplasia of the external ear

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


name: Increased circulating chylomicron concentration

description: Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.


Increased serum estradiol

description: An elevation above normal limits of the concentration of estradiol in the circulation.


Abnormal helper T cell proportion

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


choanal atresia, bilateral

description: Bilateral choanal atresia is a congenital anomaly that is usually sporadic (but some familial cases have been reported), is more commonly seen in females than in males (2:1), and where the nose is blocked on both sides by bony or soft tissue formed during embryological development. It is characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth.


Mandibular pain

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


Distal lower limb muscle weakness

description: Reduced strength of the distal musculature of the legs.


Cleft earlobe

description: Discontinuity in the convexity of the inferior margin of the lobe.


name: Patchy sclerosis of the middle phalanx of the 2nd finger

description: Uneven (irregular) increase in bone density of the middle phalanx of the second finger.


Extreme axis deviation

description: A kind of abnormal ventricular axis in the EKG whereby the QRS axis fall sbetween -90 degrees and 180 degrees. In this case, the ventricular vector is directed upward and to the right.


name: Supraventricular tachycardia with a concealed accessory connection

description: Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed becasue it is not seen on the ECG during sinus rhythm.


Ectopia of the spleen

description: An abnormal (non-anatomic) location of the spleen.


name: Decreased circulating carnitine concentration

description: Concentration of carnitine in the blood circulation below the lower limit of normal.


Neonatal epileptic spasm

description: A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: grimacing, head nodding, or subtle eye movements. May occur in clusters.


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

description: Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger.


congenital mesoblastic nephroma

description: A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis.


Duplication of phalanx of the 3rd toe

description: Partial or complete duplication of phalanx of third toe.


name: Ph-positive acute lymphoblastic leukemia

description: A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity.


Increased peripheral blast count

description: An increased count in the peripheral blood of cells that are precursors to mature circulating blood cells such as neutrophiles, monocytes, lymphocutes, and erythrocytes. Blasts are not usually found in significant numbers in the peripheral blood circulation, but can be observed in hematopoietic neoplasms such as leukemia, severe infections, and as a result of certain medications.


Antineutrophil antibody positivity

description: The presence of autoantibodies in the serum that react against neutrophils.


Short third metatarsal

description: Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone.


name: Elevated circulating vasoactive intestinal peptide concentration

description: The concentration of vasoactive intestinal peptide (VIP) in the blood circulation is above the upper limit of normal.


name: Elevated circulating carnitine concentration

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


Abnormal fifth cranial nerve morphology

description: Any structural abnormality of the fifth cranial nerve.


name: Elevated urinary prostaglandin E2 metabolite level

description: An increased amount of prostaglandin E2 metabolite (PGE-M) in the urine.


Mild hearing impairment

description: The presence of a mild form of hearing impairment.


Mosaic pulmonary attenuation pattern

description: Mosaic attenuation refers to heterogeneous areas of differing pulmonary attenuation on CT imaging.


Decreased circulating glycerol level

description: A decrease below the normal concentration of glycerol in the blood.


Cleft helix

description: A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length.


Lower lip pit

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


name: Accumulation of melanosomes in melanocytes


Pregnancy history

description: Medical history of maternal diseases, exposures, or other relevant findings during the pregnancy of which the index person was the product.


name: Decreased level of histidine-rich glycoprotein

description: Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation


Ethylmalonic aciduria

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


Abnormal sacrum morphology

description: An abnormality of the sacral bone.


fetal lower urinary tract obstruction

description: An obstruction in the ureter leading to bladder outlet obstruction. Special criteria are used for lower urinary tract obstruction (LUTO) in the fetus. Prenatal LUTO has classically been suspected on the basis of three ultrasonographic findings: megacystis, dilated posterior urethra (known as the keyhole sign) and hydronephrosis.


Abnormal pituitary stalk morphology

description: A structural anomaly of the pituitary stalk, also known as the infundibulum or infundibular stalk, is the connection between the hypothalamus and the pituitary gland.


Unilateral facial palsy

description: One-sided weakness of the muscles of facial expression and eye closure.


Cerebral hamartoma

description: The presence of a hamartoma of the cerebrum.


name: Symphalangism affecting the phalanges of the hallux


name: Abnormal cardiac magnetic resonance imaging finding

description: Abnormal finding by magnetic resonance imaging (MRI), which uses non-ionizing radiation via a strong magnetic field and radio frequency energy to generate three dimensional images. This term comprises findings that are specific to MRI. Findings such as ventricular spetum defect that can be detected by multiple modalities should be coded separately.


Abnormality of renin-angiotensin system

description: An abnormality of the renin-angiotensin system.


name: Patchy sclerosis of proximal phalanx of finger

description: Uneven increase in bone density of the proximal phalanges of the hand.


name: Focal impaired awareness autonomic seizure with pallor/flushing

description: A focal autonomic seizure with pallor / flushing characterized by impaired awareness at some point during the seizure.


Androgen insufficiency

description: Insufficient amount of androgenic activity.


name: Cone-shaped epiphysis of the distal phalanx of the 5th finger

description: A cone-shaped appearance of the epiphysis of the distal phalanx of the little 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: Aplasia cutis congenita over parietal area

description: A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area.


Arm dystonia

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


name: Aplasia cutis congenita on trunk or limbs

description: A developmental defect resulting in the congenital absence of skin on the trunk or the limbs.


Abnormal palatine bone morphology

description: An abnormality of the palatine bone.


Colon perforation

description: A hole (perforation) in the wall of the colon.


Reduced haptoglobin level

description: An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state.


Weight loss

description: Reduction of total body weight.


Anti-histone antibody positivity

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


Abnormality of the pharynx

description: An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.


Absent tragus

description: Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix.


Anticardiolipin IgG antibody positivity

description: The presence of circulating IgG autoantibodies to cardiolipin.


hyperpituitarism

description: Disease of the glandular, anterior portion of the pituitary (pituitary gland, anterior) resulting in hypersecretion of adenohypophyseal hormones such as growth hormone; prolactin; thyrotropin; luteinizing hormone; follicle stimulating hormone ; and adrenocorticotropic hormone. Hyperpituitarism usually is caused by a functional adenoma.


Flattened femoral head

description: An abnormally flattened femoral head.


name: Anti-SUMO-activating enzyme antibody positivity

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


Abnormality of pain sensation

description: Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain.


name: Elevated circulating beta chorionic gonadotropin concentration

description: The concentration of beta chorionic gonadotropin in the blood circulation is above the upper limit of normal.


name: Elevated circulating CA19-9 concentration

description: Concentration of CA19-9 above the upper limit of normal.


name: Abnormal circulating antimullerian hormone concentration

description: Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases.


name: Ivory epiphyses of the middle phalanges of the hand

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


Truncal ataxia

description: Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.


Partial duplication of thumb phalanx

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


Anti-HLA-B IgG1 antibody positivity

description: The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B).


Calcification of the aorta

description: Calcification, that is, pathological deposition of calcium salts in the aorta.


name: Elevated CSF 5-amino-4-imidazolecarboxyamide concentration

description: The concentration of 5-amino-4-imidazolecarboxyamide in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Anti-integrin antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against an integrin. Integrins are a family of cell adhesion molecules with 24 known integrin heterodimers. Integrins transduce mechanical and biochemical signals from fibrotic extracellular matrix into the cell, activate latent TGFbeta, and subsequently modulate fibroblast adhesion, migration, and growth.


Phaeohyphomycosis

description: Phaeohyphomycosis refers to infections due to a large group of heterogenous organisms called dematiaceous or melanized fungi. These fungi are distinguished by the predominance of melanin in their cell walls, which likely acts as a virulence factor. Virtually, everyone is exposed to dematiaceous fungi through inhalation, as they are ubiquitous in the environment, although the development of infection is extremely uncommon.


Prominent superficial veins

description: A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal.


name: Elevated circulating palmitoleylcarnitine concentration

description: An elevated level of propionylcarnitine in the circulation. Propionylcarnitine is present in high abundance in the urine of patients with Methylmalonyl-CoA mutase (MUT) deficiency.


name: Renal arteriole intima/media arteriolosclerosis

description: Thickening of the intima of renal arterioles with fibrosis and/or duplication of the elastic lamina.


Focal cognitive seizure with anomia

description: A focal cognitive seizure characterized by anomia as the initial semiological manifestation.


name: Decreased compound muscle action potential amplitude

description: Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve.


name: Fractured distal phalanx of manual digit 3

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


brachydactyly type A3

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


name: Abnormal inner ear epithelium morphology

description: Any structural anomaly of an inner ear epithelium.


Abnormal pulse pressure

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


Neonatal hyperbilirubinemia

description: A type of hyperbilirubinemia with neonatal onset.


name: Persistent preoccupation with parts of objects

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


Absent circulating B cells

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


Small fontanelle

description: A fontanelle that is small for age.


Impaired social imitation

description: Reduced use of imitation of tasks or movements of others in play or learning.


name: Short proximal phalanx of the 2nd finger

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


Small thumb epiphysis

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


Pectoralis hypoplasia

description: Underdevelopment of the pectoral muscle.


Abnormal liver parenchyma morphology

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


Decreased urinary sulfate

description: Decreased concentration of sulfate in the urine.


Venous stenosis

description: Narrowing of a vein due to intimal hyperplasia and fibrosis.


name: Patchy sclerosis of the middle phalanx of the 2nd toe


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


Addictive behavior

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


Pontine T2 hypointensity

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


Acrosomal hypoplasia

description: Reduction in the size of the acrosome of the head of spermatozoa.


Absent distal phalanx of the 2nd toe

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


name: Abnormal circulating cysteine concentration

description: An abnormality of a cysteine metabolic process.


name: Abnormal bronchoalveolar lavage fluid morphology

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


Scrotal hypospadias

description: Hypospadias with location of the urethral meatus in the scrotum.


Bilineage myelodysplasia

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


Abnormal vestibular function

description: An abnormality of the functioning of the vestibular apparatus.


ectodermal dysplasia syndrome

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


Localized hypoplasia of dental enamel

description: A localized form of developmental hypoplasia of the dental enamel.


Microform unilateral cleft lip

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


Ivory epiphyses of the metacarpals

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


Narrow penis

description: Penile width more than 2 standard deviations (SD) below the mean for age. Alternatively circumference of the flaccid penis more than 2 SD below the mean for age. Alternatively, apparently decreased penile width for age.


name: Functional abnormality of the middle ear

description: An abnormality of the function of the middle ear.


Anti-Hu antibody positivity

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


Anti-desmocollin antibody positivity

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


name: Elevated circulating soluble FASL concentration

description: The concentration of soluble FASL in the blood circulation is above the upper limit of normal. The first apoptosis signal receptor (FAS) pathway regulates apoptosis and is critical for proper development and functioning of the immune system. FAS ligand (FASL) can bind to FAS receptors.


Lumbosacral hirsutism

description: Abnormally increased hair growth in the lumbosacral region.


Progressive hearing impairment

description: A progressive form of hearing impairment.


name: Focal aware motor seizure with paresis/paralysis

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


Abnormal axial skeleton morphology

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


Common carotid artery dissection

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


Poor head control

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


Severe T-cell immunodeficiency

description: A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms.


Abnormality of ethmoid sinus

description: An abnormality of an ethmoid sinus.


Abnormal third ventricle morphology

description: An abnormality of the third ventricle.


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


Perifollicular hyperkeratosis

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


name: EEG with generalized low amplitude activity

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


Supernumerary finger flexion crease

description: The presence of an extra digital crease in and individual with normal joint anatomy.


Narrow palate

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


borderline personality disorder

description: A disorder characterized by an enduring pattern of unstable self-image and mood together with volatile interpersonal relationships, self-damaging impulsivity, recurrent suicidal threats or gestures and/or self-mutilating behavior.


EEG with generalized sharp slow waves

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


Septate vagina

description: The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases.


Anti-H3 antibody positivity

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


name: Abnormal carbon dioxide level in cord blood

description: Abnormal amount of carbon dioxide in umbilical cord blood


name: Elevated ciculating 5-hydroxymethyluracil concentration

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


name: Abnormal great auricular nerve morphology

description: Any structural anomaly of a great auricular nerve.


Hyperketonemia

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


Abnormal serum bile acid concentration

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


Low-molecular-weight proteinuria

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


Genital blistering

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


name: Increased circulating dehydroepiandrosterone concentration

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


Infantile encephalopathy

description: Encephalopathy with onset in the infantile period.


name: Abnormal cardiomyocyte connexin43 staining

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


Limb dystonia

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


name: Coarctation in the transverse aortic arch

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


Axial dystonia

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


Increased circulating precipitin level

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


name: Triangular shaped proximal phalanges of the toes


name: Elevated circulating tetracosanoic acid concentration

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


Abnormal aryepiglottic fold morphology

description: An abnormality of the aryepiglottic fold.


Gonadal neoplasm

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


bronchogenic cyst

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


Aplastic pubic bone

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


name: Sclerosis of the proximal phalanx of the 3rd toe

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


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


Progressive massive fibrosis

description: This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and in the upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis.


Tessier number 7 facial cleft

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


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


Selective tooth agenesis

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


Global mesangial sclerosis

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


Addictive sedative use

description: Misuse and/or abuse of sedative drugs.


dysgerminoma

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


Fetal fifth finger clinodactyly

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


Urinary glycosaminoglycan excretion

description: Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit.


name: Abnormal peripheral action potential amplitude

description: An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve.


Lymphoid cholangitis

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


Oxygen desaturation on exertion

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


Anterior wedging of T12

description: An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front).


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

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


Focal active colitis

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


Hyperoxemia in cord blood

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


Abnormality of the cervical spine

description: Any abnormality of the cervical vertebral column.


Ventricular flutter

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


name: Multicentric ossification of proximal femoral epiphyses


description: Complete duplication of the first metacarpal bone.


name: Aplasia/Hypoplasia of the capital femoral epiphysis

description: Absence or underdevelopment of the proximal epiphysis of the femur.


Sclerotic vertebral endplates

description: Sclerosis (increased density) affecting vertebral end plates.


selective IgA deficiency disease

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


Oocyte arrest at metaphase I

description: Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage.


name: Impaired renal tubular reabsorption of bicarbonate

description: Decreased renal tubular reabsorption of bicarbonate.


Focal T2 hypointense brainstem lesion

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


name: Loss of glomerular endothelial cell fenestration

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


Abnormality of the lower limb

description: An abnormality of the leg.


Uterine cervix mass

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