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

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


Abnormal cerebral vascular morphology

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

description: An anomaly of the cerebral blood vessels.


name: Elevated CSF dihydrouracil concentration

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


Increased serum prostaglandin E2

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


Anti-FGFR3 antibody positivity

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


name: Corticotropin-releasing hormone deficient adrenal insufficiency

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


name: Abnormal morphology of the limbic system

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


name: Fixated interest with abnormal intensity

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


name: Proximal/middle symphalangism of 3rd toe

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


name: Loss of ability to walk in early childhood


Abnormality of prothrombin

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


Abnormal oral frenulum morphology

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


Anti-Zic4 antibody positivity

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


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


Right bundle branch block

description: A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.


Malformation of mandibular premolar

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


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

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


Abnormal S wave

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


name: Enhanced ristocetin cofactor assay activity

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


non-syndromic amelia

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

description: A congenital malformation characterized by the complete absence of all limbs.


Coronary-pulmonary artery fistula

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


Reduced natural killer cell count

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


hypercementosis

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


name: Focal sensory seizure with visual features

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


Neonatal focal clonic seizure

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


Absent sebaceous glands

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


Abnormal Bowman capsule morphology

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


Decreased circulating IgG1 level

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


Microscopic nephrocalcinosis

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


Maternal hyperphenylalaninemia

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


congenital pulmonary veins anomaly

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


Kyphoscoliosis

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


name: Aplasia of the inferior half of the cerebellar vermis


Decreased circulating renin level

description: An decreased level of renin in the blood.


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

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


Cardiac valve calcification

description: Abnormal calcification of a cardiac valve.


Abnormality of blood volume homeostasis

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


name: Reduced reticular lamina anchoring fibril density

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


dens evaginatus

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


name: Stippling of the epiphyses of the 5th finger

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


Multiple joint dislocation

description: Dislocation of many joints.


name: Arcuate artery endoarterial foam cell hypercellularity

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


Acute hepatic steatosis

description: An acute form of hepatic steatosis.


Macroorchidism

description: The presence of abnormally large testes.


Nail psoriasis

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


Anti-H3-H4 antibody positivity

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


Redundant neck skin

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


constrictive pericarditis

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


Reduced sperm motility

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


Diminishment of sexual behavior

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


corpus callosum lipoma

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


Abnormal parathyroid morphology

description: A structural abnormality of the parathyroid gland.


name: Reduced sex -hormone binding protein level

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


Facial nerve compression

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


Amplification of social interactions

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


name: Focal impaired awareness cognitive seizure with forced thinking

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


Hyperosthenuria

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


Hypoplasia of the radius

description: Underdevelopment of the radius.


Irregularly shaped sperm tail

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


Redundant skin

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


Sexsomnia

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


Limb-girdle muscle weakness

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


Glomerular hyaline pseudothrombus

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


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

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


name: Multilamellation of medullary peritubular capillary basement membranes

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


Decreased level of thrombomodulin

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


Elevated urinary xanthurenic acid level

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


Intense psychological distress to cues

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


Intellectual disability, moderate

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


Abnormal manganese concentration

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


Palate mass

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


name: Decreased lymphocyte proliferation in response to mitogen

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


name: Abnormal circulating hormone concentration

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


Glomerular subepithelial deposits

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


Intermittent hyperventilation

description: Episodic hyperventilation.


Intratubular calcium oxalate casts

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


Hypermelanotic macule

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


White streaks/specks on enamel.

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


Spastic monoplegia

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


Slurred speech

description: Abnormal coordination of muscles involved in speech.


Abnormal arachnoid mater morphology

description: An abnormality of the Arachnoid mater.


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

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


name: Aortic smooth muscle cell disorganization

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


Abnormal superficial reflex

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


Abnormal dendritic cell count

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


Abnormal circle of Willis morphology

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


Cutaneous syndactyly of toes

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


name: Increased anti-insect IgE antibody level

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


Abnormal clitoris morphology

description: Any structural abnormality of the clitoris.


name: Increased circulating ceruloplasmin concentration

description: Elevated concentration of ceruloplasmin in the blood circulation.


name: leishmaniasis, tegumentary, susceptibility to

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


Reduced FEV1/FVC ratio

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


name: Sclerosis of the proximal phalanx of the hallux


EEG with parietal sharp slow waves

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


Abnormality of glycolysis

description: An abnormality of glycolysis.


Inferior vena cava obstruction

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


name: Increased circulating inosine concentration

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


name: Ivory epiphyses of the distal phalanges of the hand

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


Syncope

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


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

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


name: Abnormal glomerular mesangial matrix morphology

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


Global proximal tubulopathy

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


Clumsiness

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


name: Parkinsonism with favorable response to dopaminergic medication

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


Derealization

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


Increased urinary potassium

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


Ventral shortening of foreskin

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


Molarization of premolar

description: Increased size and molar morphology of premolar tooth.


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.


Babinski sign

description: Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.


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.


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.


Automatic atrial tachycardia

description: Chronic supraventricular tachycardia predominantly seen in childhood.


Aglossia

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


Beta-alaninuria

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


phosphaturic mesenchymal tumor

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


Bladder rupture

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


Glomerular basement membrane lucencies

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


cardiac diverticulum

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


Abnormality of renal excretion

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


Inattentiveness illusion

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


Fractured proximal phalanx of digit 5

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


Uraciluria

description: Increased concentration of uracil in the urine.


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.


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.


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.


name: Focal impaired awareness sensory seizure with somatosensory features

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


name: Decreased urine alpha-ketoglutarate concentration

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


Aplasia/Hypoplasia of the colon

description: Congenital absence or underdevelopment of the colon.


Absent specific antibody response

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


pineoblastoma

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


Thymic cyst

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


Anti-Lrp4 antibody positivity

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


Cutaneous telangiectasia

description: Dilated blood vessels on the skin.


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


name: Elevated brain gamma-aminobutyric acid by MRS

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


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.


Decreased CD4:CD8 ratio

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


Palmoplantar erythema

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


Fractured vertebra

description: A partial or complete breakage of the vertebra.


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.


Head titubation

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


Anti-GAD65 antibody

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


Elevated urinary dopamine level

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


Abnormal CSF carnosine concentration

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


name: Antidromic atrioventricular reentrant tachycardia

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


name: Focal impaired awareness automatism seizure

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


name: 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.


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

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


Extreme axis deviation

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


name: Supraventricular tachycardia with a concealed accessory connection

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


Ectopia of the spleen

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


name: Decreased circulating carnitine concentration

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


Neonatal epileptic spasm

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


name: Ph-positive acute lymphoblastic leukemia

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


Increased peripheral blast count

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


Antineutrophil antibody positivity

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


name: Elevated circulating vasoactive intestinal peptide concentration

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


name: Elevated circulating carnitine concentration

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


Abnormal fifth cranial nerve morphology

description: Any structural abnormality of the fifth cranial nerve.


name: Elevated urinary prostaglandin E2 metabolite level

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


Mild hearing impairment

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


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.


Lower lip pit

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


name: Accumulation of melanosomes in melanocytes


Pregnancy history

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


name: Decreased level of histidine-rich glycoprotein

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


Ethylmalonic aciduria

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


Abnormal sacrum morphology

description: An abnormality of the sacral bone.


fetal lower urinary tract obstruction

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


Abnormal pituitary stalk morphology

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


Unilateral facial palsy

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


Cerebral hamartoma

description: The presence of a hamartoma of the cerebrum.


name: Abnormal cardiac magnetic resonance imaging finding

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


Abnormality of renin-angiotensin system

description: An abnormality of the renin-angiotensin system.


name: Patchy sclerosis of proximal phalanx of finger

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


name: Focal impaired awareness autonomic seizure with pallor/flushing

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


Androgen insufficiency

description: Insufficient amount of androgenic activity.


name: 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.


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.


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.


name: Decreased circulating ferritin concentration

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


name: Anti-SUMO-activating enzyme antibody positivity

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


Abnormality of pain sensation

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


name: Elevated circulating beta chorionic gonadotropin concentration

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


name: Elevated circulating CA19-9 concentration

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


name: Abnormal circulating antimullerian hormone concentration

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


name: Ivory epiphyses of the middle phalanges of the hand

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


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.


Prominent superficial veins

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


name: Elevated circulating palmitoleylcarnitine concentration

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


name: Renal arteriole intima/media arteriolosclerosis

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


Focal cognitive seizure with anomia

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


name: Decreased compound muscle action potential amplitude

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


name: Fractured distal phalanx of manual digit 3

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


brachydactyly type A3

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


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.


Abnormal liver parenchyma morphology

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


Decreased urinary sulfate

description: Decreased concentration of sulfate in the urine.


Venous stenosis

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


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


Addictive behavior

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


Pontine T2 hypointensity

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


Acrosomal hypoplasia

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


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.


Localized hypoplasia of dental enamel

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


Microform unilateral cleft lip

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


Ivory epiphyses of the metacarpals

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


Narrow penis

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


name: Functional abnormality of the middle ear

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


Anti-Hu antibody positivity

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


Anti-desmocollin antibody positivity

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


name: Elevated circulating soluble FASL concentration

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


Lumbosacral hirsutism

description: Abnormally increased hair growth in the lumbosacral region.


Progressive hearing impairment

description: A progressive form of hearing impairment.


name: Focal aware motor seizure with paresis/paralysis

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


Abnormal axial skeleton morphology

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


Common carotid artery dissection

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


Poor head control

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


Severe T-cell immunodeficiency

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


Abnormal third ventricle morphology

description: An abnormality of the third ventricle.


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).


Narrow palate

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


borderline personality disorder

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


EEG with generalized sharp slow waves

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


Septate vagina

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


Anti-H3 antibody positivity

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


name: Abnormal carbon dioxide level in cord blood

description: Abnormal amount of carbon dioxide in umbilical cord blood


name: Elevated ciculating 5-hydroxymethyluracil concentration

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


name: Abnormal great auricular nerve morphology

description: Any structural anomaly of a great auricular nerve.


Hyperketonemia

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


Abnormal serum bile acid concentration

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


Low-molecular-weight proteinuria

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


Genital blistering

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


name: Increased circulating dehydroepiandrosterone concentration

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


Infantile encephalopathy

description: Encephalopathy with onset in the infantile period.


name: Abnormal cardiomyocyte connexin43 staining

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


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: Elevated circulating tetracosanoic acid concentration

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


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.


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.


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.


Selective tooth agenesis

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


Global mesangial sclerosis

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


Addictive sedative use

description: Misuse and/or abuse of sedative drugs.


dysgerminoma

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


Fetal fifth finger clinodactyly

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


Urinary glycosaminoglycan excretion

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


name: Abnormal peripheral action potential amplitude

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


Lymphoid cholangitis

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


Oxygen desaturation on exertion

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


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

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


Focal active colitis

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


Hyperoxemia in cord blood

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


Abnormality of the cervical spine

description: Any abnormality of the cervical vertebral column.


Ventricular flutter

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


Oocyte arrest at metaphase I

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


name: Impaired renal tubular reabsorption of bicarbonate

description: Decreased renal tubular reabsorption of bicarbonate.


Focal T2 hypointense brainstem lesion

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


name: Loss of glomerular endothelial cell fenestration

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


Abnormality of the lower limb

description: An abnormality of the leg.


Uterine cervix mass

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


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.


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.


adenoid hypertrophy

description: An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing.


Simultanapraxia

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


Abnormal circulating IgD level

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


name: Decreased circulating selenium concentration

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


breast abscess

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


name: Abnormality of central nervous system electrophysiology


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.


Clitoral hypertrophy

description: Hypertrophy of the clitoris.


Spermatocyte maturation arrest

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


name: Right aortic arch with retroesophageal left subclavian artery


upper limb mesomelic dysplasia

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


CSF autoimmune antibody positivity

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


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.


Penile swelling

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


Thymic carcinoid tumor

description: A primary thymic neuroendocrine tumor.


Duplication of pancreatic duct

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


Hyperpigmented genitalia

description: Localized or generalized increased genital pigmentation.


Renal hamartoma

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


Abnormal cerebellar vermis morphology

description: An anomaly of the vermis of cerebellum.


Delayed ability to stand

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


name: Abnormal interlobular vein lumen morphology

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


name: Delayed brainstem auditory evoked response conduction time

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


epiphysiolysis of the hip

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


Hypochloriduria

description: An decreased concentration of chloride in the urine.


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.


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

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


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.


name: Focal motor seizure with paresis/paralysis

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


Premature eruption of permanent teeth

description: Premature tooth eruption of the permanent dentition.


name: Abnormality of circulating glucocorticoid level

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


Motor conduction block

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


name: Respiratory insufficiency due to muscle weakness


Mesangial fibril deposition

description: Extracellular mesangial accumulation of slender proteinaceous fibers.


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.


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.


Abnormal sudomotor regulation

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


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.


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: Focal cognitive seizure with dysgraphia/agraphia

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


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.


Oral mucosal blisters

description: Blisters arising in the mouth.


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: 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.


Hypouricemia

description: An abnormally low level of uric acid in the blood.


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.


Abnormal blood ion concentration

description: Abnormality of the homeostasis (concentration) of a monoatomic ion.


name: Abnormal circulating mannose-binding protein concentration

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


Spermatogonial maturation arrest

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


name: Cortical radial artery intima/media coagulative necrosis

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


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

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


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

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


Sudden episodic apnea

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


Hypoplasia of the frontal lobes

description: Underdevelopment of the frontal lobe of the cerebrum.


Decreased urine creatinine level

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


Abnormal central motor function

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


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.


Fractured shoulder

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


Grade IV vesicoureteral reflux

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


2-oxoadipic aciduria

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


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.


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.


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.


Uterine rupture

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


Inferior cerebellar vermis hypoplasia

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


Duplication of phalanx of 3rd finger

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


Poor gross motor coordination

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


Angulation of penis

description: Abnormally increased curvature of the penis.


name: Aplasia/Hypoplasia involving the corticospinal tracts


IgM heavy chain paraproteinemia

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


Abnormality of the bladder

description: An abnormality of the urinary bladder.


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.


keratosis pilaris

description: A form of dry skin characterized by hair follicles plugged by scale.


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


Renal cortical adenoma

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


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


Elevated urine fumaric acid level

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


name: Abnormal posterior pituitary morphogenesis

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


Abnormal choroid plexus morphology

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


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.


Distributive shock

description: A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage


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.


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.


Tendon pain

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


Abnormal drinking behavior

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


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: 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.


Rest dyspnea

description: A perception of shortness of breath that occurs independently of exertion.


name: Chronic rhinitis due to narrow nasal airway


Thalamic hemorrhage

description: Bleeding in the thalamus.


mutism

description: The inability to generate oral-verbal expression, despite normal comprehension of speech. This may be associated with brain diseases or mental disorders. Organic mutism may be associated with damage to the frontal lobe; brain stem; thalamus; and cerebellum. Selective mutism is a psychological condition that usually affects children characterized by continuous refusal to speak in social situations by a child who is able and willing to speak to selected persons. Kussmal aphasia refers to mutism in psychosis.


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: 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.


Increased urinary copper concentration

description: An increased concentration of copper in the urine.


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.


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.


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.


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.


Scaling skin

description: Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.


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


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.


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.


adrenogenital syndrome

description: Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children.


Increased CSF methionine concentration

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


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.


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.


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.


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


Abnormality of chromosome stability

description: A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration.


Seminal vesicle cyst

description: A cyst (sac-like mass that may contain serous liquid or semisolid material) caused by distention of the seminal vesicle due to atresia of the ejaculatory duct.


Sensory seeking

description: Unusual interest in sensory aspects of the environment.


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.


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.


Elevated urinary dihydrouracil level

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


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.


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.


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).


Elevated urine aconitic acid level

description: An abnormally increased level of aconitic acid in the urine.


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.


Laryngeal edema

description: An abnormal accumulation of fluid and swelling in the tissues of the larynx.


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.


Anti-MAP1B antibody

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


Abnormal carotid artery morphology

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


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


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.