Decreased circulating IgG1 level

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


Tibial deviation of the 5th toe

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


Microscopic nephrocalcinosis

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


Positive urine cannabinoid test

description: Detection of delta-9-tetrahydrocannabinol (THC) or other cannabinoid metabolites in urine.


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

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

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


Fatty replacement of skeletal muscle

description: Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers


name: Aplasia of the inferior half of the cerebellar vermis


Decreased circulating renin level

description: An decreased level of renin in the blood.


Hyperextensible thumb

description: The ability of the thumb joints to move beyond their normal range of motion.


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: Reduced methylmalonate semialdehyde dehydrogenase activity in cultured fibroblasts

description: The activity of methylmalonate semialdehyde dehydrogenase ( EC 1.2.1.27) in cultured fibroblasts is below the lower limit of normal.


Abnormal triceps skinfold thickness

description: Any deviation from the normal range of the thickness of the triceps skinfold, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers.


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.


name: Positive CSF varicella zoster antibody positivity

description: The presence of antibodies in the cerebrospinal fluid (CSF) that react against a component of varicella zoster virus.


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.


Increased jitter at single fiber EMG

description: The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG).


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.


constrictive pericarditis

description: A heart disorder in which the pericardial sac becomes thickened and fibrotic, tightening the myocardium and impeding the normal myocardial function.


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.


Dysplastic sacrum

description: A developmental defect of the sacrum characterized by partial or disordered development of the sacrum in which portions of the sacrum, which normally is formed by fusion of five sacral vertebrae S1-S5, fail to form or fail to form normally.


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.


Uniparental Heterodisomy

description: A type of uniparental disomy in which the two different chromosomes (or chromosome segments) of the same parent are transmitted.


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.


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.


Abnormal manganese concentration

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


Positive stool infectious agent test

description: Any kind of test for an infectious agent in stool positive.


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.


Slurred speech

description: Abnormal coordination of muscles involved in speech.


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.


Decreased FasL-mediated apoptosis

description: A reduced amount of programmed cell death upon stimulation of the FAS receptor, which normally induces caspase-8 dependent apoptosis.


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.


Abnormal phagocytosis

description: An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation.


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.


Short long bone

description: One or more abnormally short long bone.


Distal tibial bowing

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


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.


Syncope

description: Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.


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.


Clumsiness

description: Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.


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.


Purulent synovial fluid

description: The synovial fluid (also known as synovia, i.e., the fluid found in the cavities of synovial joints) contains increased quantities of white blood cells.


Derealization

description: Depersonalization is a subjective experience in which an individual feels a sense of detachment or estrangement from their surroundings, leading to a distorted perception of the external world. It is characterized by a feeling of unreality or unfamiliarity with one's environment, as if things are dreamlike, artificial, or lacking in significance.


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.


Tessier number 10 facial cleft

description: In a Number 10 Tessier cleft there is an upper central orbital cleft with a cleft of the middle one-third of the upper eyelid, which often results in total ablepharia. The eyebrow is disrupted, being virtually absent medially, whereas the lateral portion angles upward toward the frontal hairline. There may be ocular anomalies, including colobomata of the iris. The skeletal cleft is through the midportion of the supraorbital rim, the adjacent frontal bone, and the orbital roof lateral to the supraorbital nerve. A frontal encephalocele frequently occupies the frontal bony cleft. The palpebral fissure is grossly elongated with an amblyopic eye displaced inferiorly and laterally. There is also a divergent squint of the right eye. The eyebrow is deficient medially and becomes thinned out laterally , where it is contiguous with a broad downward and forward projection of the frontotemporal hairline (this may be seen in both the Number 9 and 10 clefts.) A broad frontal encephalocele bulges forward from the middle one-third of the right forehead, supraorbital ridge, and orbital roof. The bony cleft, through which the frontal encephalocele presents, involves the anterior half of the orbital roof, the supraorbital rim, and two-thirds of the vertical height of the frontal bone lateral to the supraorbital nerve. The bony orbit is inferiorly displaced and widened with the lateral orbital wall shortened and laterally deviated. Similar distortion of the anterior cranial fossa is evident, being broader and more flattened on the affected side. The calvarium above the level of the cleft and the cranial base below is symmetric.


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.


Vaginal fish odor

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


name: Fingerprint intracellular accumulation of autofluorescent lipopigment storage material

description: An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern.


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.


name: Muscle fiber actin filament accumulation

description: Accumulation in muscle cells of filaments composed of actin.


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.


Increased Z-disc width

description: Abnormally increased width of the Z-disk of the sarcomere, resulting from splitting or opening of the Z-disc (c.f., Figure 2 of PMID:28732005).


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.


Reduced consciousness

description: Abnormally diminished level of attention, responsiveness, or wakefulness.


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


name: Abnormal amniotic fluid protein concentration

description: Any deviation of the concentration of a protein in the amniotic fluid from normal limits


Posterior rib gap

description: Radiolucent focal defect of the posterior portion of a rib shaft. The 'gaps' may lead to flail chest.


Elevated fecal sodium

description: An elevated concentration of sodium in feces.


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


Tonic seizure

description: A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.


name: Abnormal iduronate sulfatase concentration


Systemic autoinflammation

description: Dysregulation of the innate immune system characterized by systemic pathobiology, i.e., with symptoms that can affect the entire body.


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.


Abnormal mitochondrial shape

description: An anomaly in the surface contour of mitochondria.


Semantic dementia

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


Tessier number 11 facial cleft

description: An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal.


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.


Calcific stippling

description: An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs).


Nemaline bodies

description: Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces.


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


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.


Fractured vertebra

description: A partial or complete breakage of the vertebra.


Absent nail of hallux

description: Absent nail of big toe.


Head titubation

description: A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction.


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.


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.


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.


High forehead

description: An abnormally increased height of the forehead.


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.


Duplication of phalanx of the 3rd toe

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


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.


Peripheral cyanosis

description: Bluish discoloration of the distal extremities (hands, fingertips, toes), and can sometimes involve circumoral and periorbital areas. Mucous membranes are generally not involved.


name: anogenital human papillomavirus infection

description: A sexually transmitted papillary growth caused by the human papillomavirus. It usually arises in the skin and mucous membranes of the perianal region and external genitalia.


Mosaic pulmonary attenuation pattern

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


name: Reduced circulating pyrimidine 5-prime-nucleotidase activity

description: The activity of concentration of pyrimidine 5-prime-nucleotidase (EC 3.1.3.5) in the blood circulation is below the lower limit of normal.


Decreased circulating glycerol level

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


name: Reduced leukocyte beta-glucuronidase activity

description: Concentration or activity of an beta-glucuronidase as measured in leukocytes is below the limits of normal.


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.


Dysharmonic accelerated bone age

description: A type of dysharmonic skeletal maturation in which there is an acceleration in skeletal maturation whose degree differs markedly in different bones.


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.


Femur fracture

description: A break or crush injury of the thigh bone (femur).


name: Formation of multiple pronuclei during fertilization

description: Pronuclei formation is a critical process during fertilization. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilization. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilization with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI.


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.


Round face

description: The facial appearance is more circular than usual as viewed from the front.


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.


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.


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.


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: Decreased circulating ferritin concentration

description: Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood.


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.


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.


Bloodstream Malaria parasite

description: Presence of malaria parasites in the peripheral blood.


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.


Reduced muscle fiber dysferlin

description: Immunohistochemistry reveals reduced dysferlin protein in the muscle biopsy.


name: Abnormal inner ear epithelium morphology

description: Any structural anomaly of an inner ear epithelium.


Cortically dense long tubular bones

description: Increased density of the compact bone of long bone.


Abnormal pulse pressure

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


name: Abnormal circulating vitamin A concentration

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


Abnormality of risorius muscle

description: An abnormality of a risorius muscle.


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.


name: Elevated circulating aldolase concentration

description: Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation above the upper limit of normal.


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


name: Increased adipose tissue around the neck

description: An increased amount of subcutaneous fat tissue around the neck.


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.


Positive skin infectious agent test

description: Any kind of test for an infectious agent in skin positive.


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.


name: Abnormal circulating interleukin 9 concentration

description: Any deviation from the normal range of the concentration of interleukin 9 in the blood circulation.


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.


name: Anti-lymphocytic choriomeningitis antibody positivity

description: The presence of antibodies in the blood circulation that react against a component of lymphocytic choriomeningitis virus (LCMV).


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.


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.


Bulging epiphyses

description: A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant).


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.


EMG: neuropathic changes

description: The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).


Narrow palate

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


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.


Prominent supraorbital ridges

description: Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.


Abnormal serum bile acid concentration

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


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.


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.


name: Coarctation in the transverse aortic arch

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


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


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.


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.


Hyperoxemia in cord blood

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


renal agenesis

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


Superiorly positioned umbilicus

description: The position of the umbilicus (belly button) is abnormally high (superior).


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.


Reduced muscle fiber beta sarcoglycan

description: Immunohistochemistry reveals reduced beta sarcoglycan protein in the muscle biopsy.


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.


Short umbilical cord

description: Decreased length of the umbilical cord.


name: Increased variability in muscle fiber diameter

description: An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.


name: Decreased circulating vitamin B8 concentration

description: The concentration of vitamin B8 in the blood circulation is below the lower limit of normal.


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.


Impaired executive functioning

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


name: Decreased circulating beta-carotene concentration

description: The concentration of beta-carotene in the blood circulation is below the lower limit of normal.


name: Reduced tissue thymidine phosphorylase activity

description: Activity of thymidine phosphorylase (EC 2.4.2.4) in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes.


name: Right ventricular outlet tract obstruction

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


Simultanapraxia

description: A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue.


Hypoplasia of the femoral head

description: Underdevelopment of the femoral head.


Abnormal circulating IgD level

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


name: Decreased circulating selenium concentration

description: An abnormally reduced concentration of selenium in the blood circulation.


breast abscess

description: A breast disease characterized by a collection of pus in the breast.


name: Abnormality of central nervous system electrophysiology


Wind-swept deformity of the knees

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


Redundant skin on fingers

description: Loose and sagging skin of the fingers.


Dysplastic distal radial epiphyses

description: Abnormally developed (dysplastic) distal epiphysis of the radius.


Abnormal scrotum morphology

description: Any structural abnormality of the scrotum, i.e., the sac that contains the testes, epididymis, and the lower part of the spermatic cord.


Spermatocyte maturation arrest

description: A type of spermatogenesis maturation arrest in which the block of developmental occurs in the spermatocyte stage. Testicular histology shows seminiferous tubules with Sertoli cells, spermatogonial cells and spermatocytes but no further differentiated cells like round spermatids.


name: Right aortic arch with retroesophageal left subclavian artery


upper limb mesomelic dysplasia

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


CSF autoimmune antibody positivity

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


Abnormal ossification of the sacrum

description: Abnormal bone tissue formation (ossification) affecting the sacrum.


name: Abnormality of lipoprotein cholesterol concentration

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


Recurrent hand flapping

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


Lithoptysis

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


Penile swelling

description: Abormal enlargement of the penis owing to accumulation of fluid.


Thymic carcinoid tumor

description: A primary thymic neuroendocrine tumor.


Duplication of pancreatic duct

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


Hyperpigmented genitalia

description: Localized or generalized increased genital pigmentation.


Renal hamartoma

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


Abnormal cerebellar vermis morphology

description: An anomaly of the vermis of cerebellum.


Delayed ability to stand

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


name: Abnormal interlobular vein lumen morphology

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


name: Delayed brainstem auditory evoked response conduction time

description: An abnormal increase (delay) in the conduction time of the brainstem auditory-evoked response.


epiphysiolysis of the hip

description: Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee).


urethral stricture

description: Narrowing of any part of the urethra. It is characterized by decreased urinary stream and often other obstructive voiding symptoms.


Hypochloriduria

description: An decreased concentration of chloride in the urine.


Bone-in-a-bone appearance of forearm

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


name: Anti-tissue transglutaminase antibody positivity

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


Spinal arachnoid cyst

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


Decreased CSF albumin concentration

description: CSF albumin level is below the lower limit of normal.


Sclerosis of 2nd finger phalanx

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


Pulmonary imaging sign

description: An abnormal pulmonary imaging finding defined by eponym or reference to signs, symbols, or naturalistic images.


Potter facies

description: A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose.


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

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


Femoral hernia

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


Reduced granulocyte CD18 level

description: Reduced level of CD18 on the granulocyte surface. This feature can be assessed by flow cytometry.


Cutaneous lichen amyloidosis

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


name: Hypersegmentation of proximal phalanx of second finger

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


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

description: Complete duplication of the middle phalanx of ring finger.


Absent earlobe

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


Agenesis of pulmonary vessels

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


Abnormal pulmonary valve morphology

description: Any structural abnormality of the pulmonary valve.


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


Aplasia/Hypoplasia of the ulna

description: Absence or underdevelopment of the ulna.


name: Fragmentation of the epiphysis of the proximal phalanx of the thumb

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


Complete duplication of thumb phalanx

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


name: Focal motor seizure with paresis/paralysis

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


Premature eruption of permanent teeth

description: Premature tooth eruption of the permanent dentition.


name: Abnormality of circulating glucocorticoid level

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


Motor conduction block

description: Blockade of impulses at a focal site along the course of a motor axon.


Mesangial fibril deposition

description: Extracellular mesangial accumulation of slender proteinaceous fibers.


Flat acetabular roof

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


Flaring of rib cage

description: The presence of wide, concave anterior rib ends.


name: Triangular epiphysis of the proximal phalanx of the 4th toe


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

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


Champagne cork sign

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


Hypoplastic umbilicus

description: Underdevelopment of the umbilicus.


Enlarged semicircular canal

description: Increased size of the semicircular canal.


Prolonged bleeding following procedure

description: Prolonged or protracted bleeding following an invasive procedure or intervention.


Aphasic status epilepticus

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


name: Thinning and bulging of the posterior fossa bones


Abnormal sudomotor regulation

description: An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration.


Thin long bone diaphyses

description: Decreased width of the diaphysis of long bones.


Slender build

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


Acral overgrowth

description: Excessive growth of hands and feet (predominantly due to soft tissue swelling). Typical manifestations include shoe size increase, foot enlargment, glove tightness, and hand enlargement.


Anti-LABD97 antibody positivity

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


Narrow iliac wing

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


name: Absent ossification of capital femoral epiphysis

description: Lack of ossification of the proximal epiphysis of the femur.


name: Focal cognitive seizure with dysgraphia/agraphia

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


Prominent superior crus of antihelix

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


Stiff tongue

description: Increased rigidity and reduced mobility of the tongue.


Endocrine-type tubular atrophy

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


Reduced attention regulation

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


name: Impaired thrombin-induced platelet aggregation

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


Right axis deviation

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


Short philtrum

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


name: Clumping of elastic fibers in the dermis

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


name: Bilateral multifocal epileptiform discharges

description: Epileptiform discharges being identified at multiple locations in both hemispheres.


Oral mucosal blisters

description: Blisters arising in the mouth.


Curved distal phalanx of the 4th toe

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


Focal aware motor seizure with dystonia

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


name: Predominantly epidermal neutrophilic infiltrate

description: Collection of neutrophils in the epidermis.


Jaw hyperreflexia

description: Increased intensity of muscle tendon reflexes in jaw.


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

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


name: Abnormal proportion of transitional B cells

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


Abnormal cardiac atrium morphology

description: Any structural abnormality of a cardiac atrium.


High-pitched cry

description: A type of crying in an abnormally high-pitched voice.


Microform cleft of the upper lip

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


Abnormality of the pulmonary artery

description: An abnormality of the pulmonary artery.


Abnormal oocyte morphology

description: An abnormal structure of the female germ cell (egg cell).


name: Abnormal circulating mannose-binding protein concentration

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


Crimped helix

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


Enlarged cisterna magna

description: Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata.


Abnormal anus physiology

description: A functional anomaly of the anus.


Spermatogonial maturation arrest

description: A type of spermatogenesis maturation arrest in which the block of developmental occurs in the spermatogonial stage. Testicular histology shows seminiferous tubules with Sertoli cells and spermatogonial cells but no further differentiated cells like spermatocytes or round spermatids.


Anterior radial head dislocation

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


EMG: axonal abnormality

description: Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials.


Wide proximal femoral metaphysis

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


name: Cortical radial artery intima/media coagulative necrosis

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


name: Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio

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


name: Anti-soluble liver antigen/liver pancreas antibody positivity

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


Sudden episodic apnea

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


Hypoplasia of the frontal lobes

description: Underdevelopment of the frontal lobe of the cerebrum.


Decreased urine creatinine level

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


Abnormal central motor function

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


Reduced intrathoracic adipose tissue

description: An abnormally reduced amount of adipose tissue in the thoracic cavity.


name: Contracture of the metacarpophalangeal joint of the 5th finger

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


name: Ventricular preexcitation with multiple accessory pathways

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


Decreased RV/TLC ratio

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


Fractured shoulder

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


Grade IV vesicoureteral reflux

description: Vesicoureteral reflux with more-extensive dilation with blunting of the calyces and tortuosity of the ureter.


2-oxoadipic aciduria

description: The amount of 2-oxoadipic acid in the urine, normaliyed for urine concentration, is above the upper limit of normal.


Abnormality of the cell cycle

description: An abnormality of the cell cycle.


Wide nasal base

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


name: Progressive extrapyramidal muscular rigidity

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


Reduced fetal long bone echogenicity

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


Breast mass

description: A breast lump is any discrete mass in a breast noticed by the patient, significant other, or physician.


name: Aplasia/Hypoplasia of the cerebellar vermis

description: Absence or underdevelopment of the vermis of cerebellum.


Fetal skin edema

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


Type II atherosclerotic lesion

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


Occipital horn

description: Downward pointing exostoses of the occipital bone situated in the tendinous insertions of the sternocleidomastoid and trapezius muscles.


Uterine rupture

description: The complete, nonsurgical disruption of all layers of the uterus.


Inferior cerebellar vermis hypoplasia

description: Underdevelopment of the inferior portion of the vermis of cerebellum.


Duplication of phalanx of 3rd finger

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


Poor gross motor coordination

description: An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts.


name: Abnormal middle phalanx morphology of the hand

description: An anomaly of middle phalanx of finger.


Angulation of penis

description: Abnormally increased curvature of the penis.


name: Aplasia/Hypoplasia involving the corticospinal tracts


IgM heavy chain paraproteinemia

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


Abnormality of the bladder

description: An abnormality of the urinary bladder.


name: Increased circulating interleukin 1beta concentration

description: An increased concentration of interleukin-1beta in the blood circulation.


Hypoplasia of teeth

description: Developmental hypoplasia of teeth.


Ureteral hamartoma

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


Hypercystinemia

description: An increased amount of cystine in the blood.


Dry hair

description: Hair that lacks the luster (shine or gleam) of normal hair.


name: Ivory epiphyses of the proximal phalanges of the hand

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


Focal T1 hyperintense brainstem lesion

description: A lighter than expected T1 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem.


Deficit in phonologic short-term memory

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


Pneumocystis jirovecii pneumonia

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


Renal cortical adenoma

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


Hypoplasia of facial musculature

description: Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve).


Oligodontia

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


Myelin-dependent gliosis

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


testicular agenesis

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


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

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


name: Elevated circulating apolipoprotein C-III concentration

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


Abnormal epidermal morphology

description: An abnormality of the morphology of the epidermis.


name: Osteolytic defects of the distal phalanx of the 3rd toe


Focal emotional seizure with laughing

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


Posterior wedging of vertebral bodies

description: An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back).


Elevated urine fumaric acid level

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


name: Abnormal posterior pituitary morphogenesis

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


Abnormal choroid plexus morphology

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


Loose body in joint

description: Small fragments of articular cartilage that break off in a joint as a result of a injury, degeneration, or other processes.


name: Reduced circulating erythropoietin concentration

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


name: Small epiphysis of the distal phalanx of the 5th finger

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