name: Ivory epiphyses of the distal phalanges of the hand

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


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

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

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


name: Abnormal glomerular mesangial matrix morphology

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


Global proximal tubulopathy

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


name: Parkinsonism with favorable response to dopaminergic medication

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


Short distal phalanx of the 4th finger

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


Molarization of premolar

description: Increased size and molar morphology of premolar tooth.


Short finger

description: Abnormally short finger associated with developmental hypoplasia.


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

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

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.


Aglossia

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


Beta-alaninuria

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


phosphaturic mesenchymal tumor

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


Glomerular basement membrane lucencies

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


cardiac diverticulum

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


Abnormality of renal excretion

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


Inattentiveness illusion

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


Fractured proximal phalanx of digit 5

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


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


Renal vasculitis

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


Duplication of phalanx of toe

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


Abnormality of the midnasal cavity

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


name: Pubertal developmental failure in females


Compression-fractured cervical vertebra

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


Cortical radial artery endotheliosis

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


Semantic dementia

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


Congenital stapes ankylosis

description: A form of stapes ankylosis with congenital onset.


name: Focal impaired awareness sensory seizure with somatosensory features

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


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.


Thymic cyst

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


Anti-Lrp4 antibody positivity

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


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


Cutaneous telangiectasia

description: Dilated blood vessels on the skin.


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


name: 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.


Palmoplantar erythema

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


Absent nail of hallux

description: Absent nail of big toe.


Testicular ischemia

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


Anti-GAD65 antibody

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


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.


anotia

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


name: Abnormal greater sciatic notch morphology

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


name: Elevated prostate-specific antigen level

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


Aplasia/Hypoplasia of the external ear

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


name: Increased circulating chylomicron concentration

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


Increased serum estradiol

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


Abnormal helper T cell proportion

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


choanal atresia, bilateral

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


Mandibular pain

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


Distal lower limb muscle weakness

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


Cleft earlobe

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


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

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


Extreme axis deviation

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


name: Supraventricular tachycardia with a concealed accessory connection

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


Ectopia of the spleen

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


Neonatal epileptic spasm

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


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

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


congenital mesoblastic nephroma

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


Duplication of phalanx of the 3rd toe

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


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.


Mild hearing impairment

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


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.


Mosaic pulmonary attenuation pattern

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


Decreased circulating glycerol level

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


Cleft helix

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


Lower lip pit

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


name: Accumulation of melanosomes in melanocytes


Pregnancy history

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


name: Decreased level of histidine-rich glycoprotein

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


Abnormal sacrum morphology

description: An abnormality of the sacral bone.


fetal lower urinary tract obstruction

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


Abnormal pituitary stalk morphology

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


Unilateral facial palsy

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


Cerebral hamartoma

description: The presence of a hamartoma of the cerebrum.


name: Symphalangism affecting the phalanges of the hallux


name: Abnormal cardiac magnetic resonance imaging finding

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


Abnormality of renin-angiotensin system

description: An abnormality of the renin-angiotensin system.


name: Patchy sclerosis of proximal phalanx of finger

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


name: Focal impaired awareness autonomic seizure with pallor/flushing

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


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

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


name: Aplasia cutis congenita over parietal area

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


Arm dystonia

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


name: Aplasia cutis congenita on trunk or limbs

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


Abnormal palatine bone morphology

description: An abnormality of the palatine bone.


Colon perforation

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


Reduced haptoglobin level

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


Weight loss

description: Reduction of total body weight.


Anti-histone antibody positivity

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


Abnormality of the pharynx

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


Absent tragus

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


Anticardiolipin IgG antibody positivity

description: The presence of circulating IgG autoantibodies to cardiolipin.


hyperpituitarism

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


Flattened femoral head

description: An abnormally flattened femoral head.


name: Anti-SUMO-activating enzyme antibody positivity

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


Abnormality of pain sensation

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


name: Elevated circulating beta chorionic gonadotropin concentration

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


name: Elevated circulating CA19-9 concentration

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


name: Abnormal circulating antimullerian hormone concentration

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


name: Ivory epiphyses of the middle phalanges of the hand

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


Truncal ataxia

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


Partial duplication of thumb phalanx

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


Anti-HLA-B IgG1 antibody positivity

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


Calcification of the aorta

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


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

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


Anti-integrin antibody positivity

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


Phaeohyphomycosis

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


Prominent superficial veins

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


name: Elevated circulating palmitoleylcarnitine concentration

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


name: Renal arteriole intima/media arteriolosclerosis

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


Focal cognitive seizure with anomia

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


name: Fractured distal phalanx of manual digit 3

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


brachydactyly type A3

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


name: Abnormal inner ear epithelium morphology

description: Any structural anomaly of an inner ear epithelium.


Abnormal pulse pressure

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


name: Abnormal circulating vitamin A concentration

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


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.


Impaired social imitation

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


name: Short proximal phalanx of the 2nd finger

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


Small thumb epiphysis

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


Pectoralis hypoplasia

description: Underdevelopment of the pectoral muscle.


Abnormal liver parenchyma morphology

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


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.


Absent distal phalanx of the 2nd toe

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


name: Abnormal circulating cysteine concentration

description: An abnormality of a cysteine metabolic process.


name: Abnormal bronchoalveolar lavage fluid morphology

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


Scrotal hypospadias

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


Bilineage myelodysplasia

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


Abnormal vestibular function

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


ectodermal dysplasia syndrome

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


Localized hypoplasia of dental enamel

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


Microform unilateral cleft lip

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


Ivory epiphyses of the metacarpals

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


name: Functional abnormality of the middle ear

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


Anti-Hu antibody positivity

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


Anti-desmocollin antibody positivity

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


name: Elevated circulating soluble FASL concentration

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


Lumbosacral hirsutism

description: Abnormally increased hair growth in the lumbosacral region.


Progressive hearing impairment

description: A progressive form of hearing impairment.


name: Focal aware motor seizure with paresis/paralysis

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


Abnormal axial skeleton morphology

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


Common carotid artery dissection

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


Poor head control

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


Severe T-cell immunodeficiency

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


Abnormality of ethmoid sinus

description: An abnormality of an ethmoid sinus.


Abnormal third ventricle morphology

description: An abnormality of the third ventricle.


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


erythromelalgia

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


Perifollicular hyperkeratosis

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


name: EEG with generalized low amplitude activity

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


Supernumerary finger flexion crease

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


Narrow palate

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


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.


Anti-H3 antibody positivity

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


name: Abnormal carbon dioxide level in cord blood

description: Abnormal amount of carbon dioxide in umbilical cord blood


name: Elevated ciculating 5-hydroxymethyluracil concentration

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


name: Abnormal great auricular nerve morphology

description: Any structural anomaly of a great auricular nerve.


Hyperketonemia

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


Abnormal serum bile acid concentration

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


Low-molecular-weight proteinuria

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


Genital blistering

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


name: Increased circulating dehydroepiandrosterone concentration

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


Infantile encephalopathy

description: Encephalopathy with onset in the infantile period.


name: Abnormal cardiomyocyte connexin43 staining

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


Limb dystonia

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


name: Coarctation in the transverse aortic arch

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


Axial dystonia

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


Increased circulating precipitin level

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


name: Triangular shaped proximal phalanges of the toes


name: Elevated circulating tetracosanoic acid concentration

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


Abnormal aryepiglottic fold morphology

description: An abnormality of the aryepiglottic fold.


Gonadal neoplasm

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


bronchogenic cyst

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


Aplastic pubic bone

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


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

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


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


Progressive massive fibrosis

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


Tessier number 7 facial cleft

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


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


Selective tooth agenesis

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


Global mesangial sclerosis

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


Addictive sedative use

description: Misuse and/or abuse of sedative drugs.


dysgerminoma

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


Fetal fifth finger clinodactyly

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


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.


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

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


Focal active colitis

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


Hyperoxemia in cord blood

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


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).


Abnormality of the cervical spine

description: Any abnormality of the cervical vertebral column.


Ventricular flutter

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


name: Multicentric ossification of proximal femoral epiphyses


description: Complete duplication of the first metacarpal bone.


name: Aplasia/Hypoplasia of the capital femoral epiphysis

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


selective IgA deficiency disease

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


name: Impaired renal tubular reabsorption of bicarbonate

description: Decreased renal tubular reabsorption of bicarbonate.


Short umbilical cord

description: Decreased length of the umbilical cord.


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: Right ventricular outlet tract obstruction

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


alveolar soft part sarcoma

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


Paraseptal emphysema

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


Hypoplasia of the femoral head

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.


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.


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.


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.


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.


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.


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).


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.


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.


Short nose

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


Femoral hernia

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


Cutaneous lichen amyloidosis

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.


name: Respiratory insufficiency due to muscle weakness


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.


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.


Abnormal dental enamel morphology

description: An abnormality of the dental enamel.


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.


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.


Intermittent diarrhea

description: Repeated episodes of diarrhea separated by periods without diarrhea.


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.


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).


Perioral erythema

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


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.


Cerebellar vermis atrophy

description: Wasting (atrophy) of the vermis of cerebellum.


Splanchnic vein thrombosis

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


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.


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.


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.


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.


Peritoneal effusion

description: An increase in the amount of fluid present in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).


Anterior radial head dislocation

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


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.


Abnormal central motor function

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


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.


uniparental disomy

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


Wide nasal base

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.


dysautonomia

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


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.


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.


name: Abnormal middle phalanx morphology of the hand

description: An anomaly of middle phalanx of finger.


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.


Hepatic lobular inflammation

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


Hypoplasia of teeth

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.


Peripheral schwannoma

description: The presence of a peripheral schwannoma.


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.


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


Severe viral infection

description: An unusually severe viral infection.


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'.


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.


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.


Knee extension contracture

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


Abnormality of skin physiology

description: Any abnormality of the physiological function of the skin.


Large intestinal polyposis

description: The presence of multiple polyps in the large intestine.


Compression-fractured lumbar vertebra

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


Abnormal hallux morphology

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


Displaced lobar tracheal bronchus

description: Accessory entire right upper lobe bronchial system originating from the trachea with absent anatomically normal upper lobe bronchus.


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

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


Abnormal number of teeth

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


Abnormal drinking behavior

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


Pyle disease

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


Anti-annexin A5 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against annexin A5.


name: Abnormal nasopharyngeal adenoid morphology

description: Any abnormality of nasopharyngeal adenoids.


name: Partial duplication of the middle phalanx of the 5th finger

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


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


Abnormality of iron homeostasis

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


Ventricular preexcitation

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


name: Duplication of the phalanges of the 5th toe

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


name: Partial duplication of the 1st metatarsal

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


name: Bracket epiphyses of the proximal phalanges of the hand

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


name: Chronic rhinitis due to narrow nasal airway


histiocytoma

description: A mesenchymal tumor composed of fibroblastic and histiocytic cells.


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

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


name: Abnormal proportion of marginal zone B cells

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


name: atrial septal defect, ostium primum type

description: Atrioventricular septal defect with communication at the atrial level only.


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

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


Anti-GM1 IgG antibody positivity

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


name: Amyotrophy involving the shoulder musculature


name: Dextrotransposition of the great arteries

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


Clubbing of toes

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


mononeuritis multiplex

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


factor V deficiency

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


name: Fractured epiphysis of second metatarsal bone

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


Absence of epidermal lamellar bodies

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


Abnormal cerebral cortex morphology

description: Any structural abnormality of the cerebral cortex.


name: Anti-beta-2-Glycoprotein I IgG antibody positivity

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


Peripheral dysmyelination

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


motor peripheral neuropathy

description: Inflammation or degeneration of the peripheral motor nerves.


Alveolar bone loss around teeth

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


Anti-desmoplakin I antibody positivity

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


Darwin notch of helix

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


Silver-gray hair

description: Hypopigmented hair that appears silver-gray.


name: Abnormal circulating sex hormone concentration

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


name: Irregular epiphyses of the distal phalanges of the hand


High serum calcifediol

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


Microform bilateral cleft lip

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


name: Decreased CSF phenylalanine concentration

description: Abnormally decreased levels of phenylalanine in cerebrospinal fluid.


Vertebral hyperostosis

description: Excessive growth of the bones of the vertebral bodies.


Cardiomyocyte hypertrophy

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


Lipid-laden lymph node macrophages

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


Intraventricular arachnoid cyst

description: An arachnoid cyst located within the ventricular system.


Cervical hypoplasia

description: Underdevelopment of the uterine cervix.


Curved proximal phalanx of the hallux

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


Decreased intestinal transit time

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


Upper limb amyotrophy

description: Muscular atrophy involving the muscles of the upper limbs.


name: Patent ductus arteriosus after birth at term

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


name: Decreased circulating creatine kinase concentration

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


Cervical aortic arch

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


Increased CSF methionine concentration

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


Impaired nasal mucociliary clearance

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


Notched P wave

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


Bifid nail

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


name: Anti-angiotensin-converting enzyme 2 antibody positivity

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


Ectopic thymus tissue

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


Persistent cloaca

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


Synotia

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


Progressive distal muscular atrophy

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


Differential cyanosis

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


malignant pericardial mesothelioma

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


Increased urinary 1-methylhistidine

description: Increased concentration of 1-methylhistidine in the urine.


Cardiac conduction abnormality

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


Recurrent coughing spasms

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


Dysgenesis of the hypothalamus

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


EEG with occipital focal spike waves

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


Anti-factor X antibody positivity

description: The presence of an antibody in the blood circulation that is directed against factor X.


Hypoplasia of proximal radius

description: Proximal radial shortening owing to a congenital defect of development.


Abnormal endometrium morphology

description: An anomaly of the inner mucous membrane of the uterus.


name: Anomalous branches of internal carotid artery


Abnormality of the upper urinary tract

description: An abnormality of the upper urinary tract.


Maternal fever in pregnancy

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


Increased spinal bone density

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


Descending aorta hypoplasia

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


Low femoral bone density

description: Reduced bone mineral density of the femur.


name: Complete duplication of the phalanges of the 2nd toe

description: Complete duplication of a phalanx of second toe.


Increased circulating IgD level

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


Dysplastic pulmonary valve

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


3-5 finger syndactyly

description: Syndactyly with fusion of fingers three to five.


Global cerebellar dysplasia

description: A type of cerebellar dysplasia that affects the entire cerebellum.


name: Anti-thyroid-stimulating hormone receptor antibody positivity

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


Shoulder girdle muscle atrophy

description: Amyotrophy affecting the muscles of the shoulder girdle.


name: Abnormality of the musculature of the upper limbs


Anterior bowing of long bones

description: An abnormal anterior curvature of a long bone.


Sensory seeking

description: Unusual interest in sensory aspects of the environment.


Calf muscle hypoplasia

description: Underdevelopment of the muscuklature of the calf.


name: Bullet-shaped distal phalanx of the 2nd finger

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


Aplasia of the olfactory tract

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


testicular gonadoblastoma

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


ureter neoplasm

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


name: Arcuate artery endoarterial neutrophil hypercellularity

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


Emotional hypersensitivity

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


Insect bite allergy

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


Uterine cervix myxoma

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


Permanent atrial fibrillation

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


name: Anti-phospholipase A2 receptor antibody positivity

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


Oral cavity bleeding

description: Recurrent or excessive bleeding from the mouth.


name: Elevated circulating thymine concentration

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


name: Increased proportion of transitional B cells

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


J wave

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


Distal clavicular thinning

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


Focal aware hemifacial clonic seizure

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


name: Polymorphic focal epileptiform discharges

description: Focal epileptiform discharges of different shapes and frequencies.


Precordial pain

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


name: Increased level of hippuric acid in blood

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


Deep longitudinal plantar crease

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


Abnormal vertebral artery morphology

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


Onychotillomania

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


Antimitochondrial antibody positivity

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


Dumbbell-shaped humerus

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


stutter disorder

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


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

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


name: Aplasia/Hypoplasia of the 2nd metacarpal

description: Aplasia or Hypoplasia affecting the 2nd metacarpal.


name: Abnormal circulating apolipoprotein concentration

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


name: Reticulonodular pattern on pulmonary HRCT

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


Anti-NMDA receptor antibody positivity

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


Pericardial friction rub

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


Recurrent encephalopathy

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


Abnormal renal medulla morphology

description: Any structural abnormality of the medulla of the kidney.


name: Functional abnormality of male internal genitalia


Decreased CSF/serum albumin ratio

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


Struvite nephrolithiasis

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


Thick hair

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


Glossoptosis

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


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


Midline liver

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


name: Abnormal CSF phenylalanine concentration

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


Hyperorality

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


Increased CSF glutamine concentration

description: Abnormally increased levels of glutamine in cerebrospinal fluid.


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


Anti-MAP1B antibody

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


name: Aplasia of the proximal phalanx of the 2nd toe


Abnormal vocal cord morphology

description: An abnormality of the vocal cord.


Abnormal carotid artery morphology

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


Short middle phalanx of the 5th toe

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


name: Ivory epiphyses of the phalanges of the hand

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


name: Stippling of the epiphysis of the 1st metatarsal


name: Osteolysis involving bones of the lower limbs


Toe extensor amyotrophy

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


Strawberry tongue

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


Tryptophanuria

description: An increased concentration of tryptophan in the urine.


Cobblestone-like hyperkeratosis

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


Decreased CSF threonine concentration

description: Abnormally decreased levels of threonine in cerebrospinal fluid.


Abnormal cervical curvature

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


Moderate hearing impairment

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


Invasive parasitic infection

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


popliteal cyst

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


Anti-envoplakin antibody positivity

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


proximal spinal muscular atrophy

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


Abnormal proportion of naive T cells

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


name: Partial duplication of the phalanges of the 3rd finger

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


Abnormal aortic valve cusp morphology

description: Any structural anomaly of the aortic valve leaflets.


name: Elevated circulating glutaric acid concentration

description: An increased concentration of glutaric acid in the blood.


name: Elevated circulating calprotectin concentration

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


Hypoplasia of the vagina

description: Developmental hypoplasia of the vagina.


name: Abnormality of the distal tibial epiphysis


name: Abnormal medullary peritubular capillary morphology

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


Ambiguous genitalia, male

description: Ambiguous genitalia in an individual with XY genetic gender.


name: Right aortic arch with mirror image branching

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


Abnormal hepatic artery morphology

description: Any structural anomaly of the hepatic artery or its branches.


Abnormal dentin morphology

description: Any abnormality of dentin.


name: Partial duplication of the distal phalanx of the 2nd toe

description: Partial duplication of the distal phalanx of second toe.


Horizontal crus of helix

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


name: Pseudoepiphysis of the proximal phalanx of the thumb

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


Pelvic kidney

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


Fractured proximal phalanx of digit 4

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


Neonatal multifocal clonic seizure

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


Trigeminal anesthesia

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


name: Anti-histidyl tRNA synthetase antibody positivity

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


Hyperextensibility of the knee

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


Subaortic ventricular septal bulge

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


Reduced CSF creatine concentration

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


Snout reflex

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


Increased circulating ACTH level

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


Anterior neck swelling

description: Abormal enlargement of the front part of the neck owing to accumulation of fluid.


Fractured carpal bone

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


Hypoplasia of the pharynx

description: Underdevelopment of the pharynx.


Clinodactyly of the 5th toe

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


Thyroid dysgenesis

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