name: Increased proportion of CD4-positive, alpha-beta memory T cells

description: An abnormally elevated proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.


name: Congenitally corrected transposition of the great arteries with ventricular septal defect

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

description: A congenitally corrected transposition of the great arteries with a ventricular septal defect: a hole between the two bottom chambers (ventricles) of the heart. The ventricular septal defect is centered around the most superior aspect of the ventricular septum.


Absent epiphyses of the 2nd finger

description: Absence of the epiphyses of the 2nd finger.


Thick corpus callosum

description: Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain.


Osseous syndactyly of toes

description: Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".


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

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


name: Orthodromic atrioventricular reentrant tachycardia

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


Renal interstitial deposits

description: Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney.


Abnormal head blood vessel morphology

description: An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head.


name: Increased anti-animal dander IgE antibody level

description: Increased level of IgE antibody against animal dander, tiny scales shed from animal skin or hair, such as from pet dogs or cats.


Abnormal morphology of ulna

description: Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger.


Sleep-related breathing disorders

description: Conditions of abnormal and difficult respiration during sleep, including chronic snoring and sleep apnea.


Mandibular hyperostosis

description: Hyperostosis (bony overgrowth) of the mandible.


Serpiginous cutaneous lesion

description: A skin lesion with a snake- or serpent-like distribution.


Vaginal hydrocele

description: A type of hydrocele testis in which the processus vaginalis remains patent only around the testes, and, as fluid accumulates, it renders the testes impalpable.


neoplasm of jaw

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

description: A neoplasm (disease) that involves the jaw skeleton.


Hip flexor weakness

description: Reduced ability to flex the femur, that is, to pull the knee upward.


name: Abnormal common carotid artery morphology

description: An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery.


name: Esophageal myenteric plexus degeneration

description: Deterioration of the cells of the myenteric plexus (also known as the Auerbach plexus) located between the layers of the muscular propria of the esophagus.


Glomerular basement membrane disruption

description: A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver.


hypersensitivity vasculitis

description: A small vessel vasculitis affecting the skin and/or internal organs. It is characterized by the presence of neutrophils and fibrinoid necrosis in small arteries and venules. It may be idiopathic or the result of drug treatment, infections, food intake, collagen vascular disorders, inflammatory bowel disease, or cancer.


Recurrent vulvovaginal candidiasis

description: Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida.


Arcuate vein medial/intimal necrosis

description: Cell death (necrosis) of the inner or middle layer of the arcuate veins of the kidney.


Dentin dysplasia

description: This is a bundled term as dentin dysplasia is composed of short roots with pointed ends and taurodontism and intrapulpal calcifications.


Gray matter heterotopia

description: Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.


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

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


Clinical course

description: The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual.


Lymph node hypoplasia

description: Underdevelopment of the lymph nodes.


Hallux rigidus

description: Osteoarthritis of the metatarsophalangeal joint of the first toe.


Pretibial hyperpigmentation

description: Darkening of the area of skin that overlies the shin.


Generalized clonic seizure

description: Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups.


Abnormal fibula morphology

description: An anomaly of the calf bone (fibula), one of the two bones of the calf.


name: Bullet-shaped middle phalanx of the 5th toe

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


Enlarged epiphyses of the 5th finger

description: Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms.


Increased hepatic glycogen content

description: An increase in the amount of glycogen stored in hepatocytes compared to normal.


Metacarpophalangeal synostosis

description: Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint.


name: Aplasia involving bones of the upper limbs


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

description: A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.


Decreased CSF amyloid concentration

description: Reduced concentration of amyloid in the cerebrospinal fluid (CSF).


ganglioglioma

description: A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. (Adapted from WHO)


name: Decreased circulating sialic acid concentration

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


name: Prominent nucleoli of renal tubular epithelial cells

description: Tubular epithelium with nucleoli clearly visible at 100-fold magnification.


Abnormality of the abdominal wall

description: The presence of any abnormality affecting the abdominal wall.


name: Reduced circulating NT-proANP concentration

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


Low anterior hairline

description: Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.


Pancreatic islet cell adenoma

description: The presence of an adenoma of the pancreas with origin in a pancreatic B cell.


Abnormal aortic arch morphology

description: An anomaly of the arch of aorta.


name: Abnormality of the epiphyses of the proximal phalanges of the hand


Platypnea

description: A type of dyspnea that occurs when the affected person changes from a recumbent to an upright position.


Ectopic accesory toe-like appendage

description: In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the fibular side of the foot, next top the little toe), preaxial (on the tibial side of the foot, next to the big toe) or mesoaxial (somewhere central, between big and little toe), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200).


name: Bullet-shaped distal phalanx of the 5th finger

description: Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected.


Absent first metatarsal

description: A developmental defect characterized by the absence of the first metatarsal bone.


Diminishment of emotional expression

description: A reduction in the tendency of a person to express emotions that is typically noticed as a change in behavior by family members or peers.


basal ganglia disorder

description: A disease involving the basal ganglia.


name: Complete or near-complete absence of specific antibody response to meningococcus vaccine

description: The inability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination.


Congenital abnormal hair pattern

description: A congenital abnormality of the distribution of hair growth.


Bilateral ulnar hypoplasia

description: Underdevelopment of the ulna on both sides.


Fetal neck anomaly

description: A structural anomaly in the fetal neck region. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.


Limited pronation/supination of forearm

description: A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation).


description: Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome.


Poroma

description: A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273].


Exogenous lipoid pneumonia

description: A type of lipoid pneumonia in which the source of the lipids is external to the body.


name: Decreased circulating carnosine concentration

description: A decreased amount of carnosine in bood.


Decerebrate rigidity

description: A type of rigidity that is manifested by an exaggerated extensor posture of all extremities.


name: Renal tubular epithelial cell simplification

description: Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts.


name: Abnormality of the epiphyses of the 3rd finger

description: Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger.


Upper extremity akinesia

description: Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the upper extremities.


Hypoplastic thumbnail

description: A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail.


Aborted sudden cardiac death

description: Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it.


name: Abnormal renal collecting system morphology

description: An abnormality of the renal collecting system.


Non-acidotic 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 without bicarbonate loss.


Abnormal pulmonary fissure architecture

description: An abnormal form or location of a pulmonary fissure.


Excessive dental attrition

description: A higher than expected amount of attrition of teeth, as menifested by loss of tooth characteristics including rounding or sharpening of incisal edges, loss of cusps, and fracturing of teeth, to an extent that is deemed more than would be expected at a given age.


nasopharyngeal neoplasm

description: A benign or malignant neoplasm affecting the nasopharynx. Representative examples of benign neoplasms include angiofibroma and squamous papilloma. Representative examples of malignant neoplasms include keratinizing squamous cell carcinoma and nonkeratinizing carcinoma.


name: Contracture of the metatarsophalangeal joint of the 5th toe

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


Perioral hyperpigmentation

description: Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips.


Fractured maxilla

description: A partial or complete breakage of the maxilla.


gamma-heavy chain disease

description: Gamma-heavy chain disease (gamma-HCD) is a type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases.


Triceps hyperreflexia

description: Increased intensity of the triceps reflex.


Brachioradialis hyporeflexia

description: Reduced intensity of the brachioradialis tendon reflex.


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

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


Suicide behaviors

description: Suicide attempts or preparations


name: Snowstorm pattern of uterus on ultrasound

description: A sonographic snowstorm pattern of the uterusresults from the presence of a complex vesicular intrauterine mass containing many grape-like cysts.


High insertion of columella

description: Insertion of the posterior columella superior to the nasal base.


kleptomania

description: A disorder characterized by the recurrent failure to resist the impulse to steal items of little intrinsic value; the individual experiences a rising subjective sense of tension before the theft and a sense of gratification or relief during the theft.


Trichodysplasia

description: Developmental dysplasia of the hair.


Enlarged gastric folds

description: Giant gastric folds are recognized at endoscopy as an increase in the size of the gastric rugae and a lack of flattening.


name: Abnormal circulating glutamate concentration

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


name: Type 3 congenital pulmonary airway malformation

description: A type of congenital pulmonary airway malformation that is characterized by a bulky firm mass with an adenomatoid appearance.


Abnormal nasopharynx morphology

description: A structural anomaly of the nasopharynx.


Impaired tactile sensation

description: A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.


Increased myocardial glycogen content

description: Elevated amount of glycogen in the myocardium.


Quadricuspid aortic valve

description: The presence of an aortic valve with four instead of the normal three cusps (flaps).


Multidrug-resistant nephrotic syndrome

description: A form of nephrotic syndrome that does not respond to any immunosuppresive treatment.


name: Recurrent acute respiratory tract infection

description: A history of repeated acute infections of the upper or lower respiratory tract.


name: Focal aware emotional seizure with anger

description: Focal emotional seizure with anger in which awareness is retained throughout.


Brown pigment gallstones

description: A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones.


name: Elevated circulating fumarate concentration

description: An increased concentration of fumarate, an intermediate in the citric acid cycle, in the blood circulation.


name: Small epiphyses of the phalanges of the hand

description: Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.


Temporal hypotrichosis

description: Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull).


Bullet-shaped proximal toe phalanx

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


name: Abnormality of the epiphyses of the 4th toe


platelet aggregation, spontaneous

description: Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation.


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

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


Abnormality of secondary sexual hair

description: Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair.


Interlobular septal thickening

description: Presence of thickening of the interlobular septa of the lungs as seen on a CT scan.


name: Impaired cortisol response to glucagon stimulation test

description: Failure of cortisol levels to respond adequately (by increasing) to the glucagon stimulation test.


Recurrent thromboembolism

description: Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream.


Severe infection

description: A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection.


name: Reduced epidermal extracellular matrix protein 1 protein expression

description: Lower than normal amount of extracellular matrix protein 1 (ECM1) in the epidermis.


Focal impaired awareness motor seizure

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


name: Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes


Hypoplastic sweat glands

description: Underdevelopment of the sweat glands.


Lower limb dysmetria

description: A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg.


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

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


Agenesis of maxillary central incisor

description: Agenesis of upper secondary incisor or of upper central primary incisor.


Pulmonary situs inversus

description: Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus.


Abnormal lingual nerve morphology

description: Any structural anomaly of a lingual nerve.


name: Deep cerebral white matter hyperintensities

description: Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system.


Glomerular deposits

description: An abnormal accumulation of protein in the glomerulus.


Reduced natural killer cell activity

description: Reduced ability of the natural killer cell to function in the adaptive immune response.


Bloody mucoid diarrhea

description: Passage of many stools containing blood and mucus.


Ureteral duplication

description: A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.


Dilatation of the tricuspid annulus

description: An increase in the diameter of the ring (annulus) of the tricuspid valve.


Aplasia of metacarpal bones

description: Developmental defect associated with absence of one or more metacarpal bones.


Localized skin lesion

description: A lesion of the skin that is located in a specific region rather than being generalized.


Unroofed coronary sinus

description: Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion.


name: Apical muscular ventricular septal defect

description: A muscular ventricular septal defect located at the apex of the heart.


Type 1 schizencephaly

description: A type of Schizencephaly in which there is a trans-mantle column of abnormal gray matter but no evidence of a CSF-containing cleft on MR imaging.


name: Reduced circulating prekallikrein concentration

description: Reduced concentration of prekallikrein (PK; also known as Fletcher factor) in the blood circulation. PK is the precursor of plasma kallikrein, a serine protease that activates kinins. PK is cleaved to produce kallikrein by activated Factor XII.


Brachioradialis areflexia

description: Inability to elicit brachioradialis tendon reflex.


Fractured clavicle bone

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


Gowers sign

description: A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.


Abnormal retinol-binding protein level

description: A deviation from normal blood concentration of retinol-binding protein (RBP). The most commonly used indicator of vitamin A status is the serum retinol concentration (retinol is one of the several compounds known as vitamin A). The serum RBP concentration is used as a surrogate measure for serum retinol.


Abnormal large intestine morphology

description: Any abnormality of the large intestine.


communicating hydrocephalus

description: An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations.


name: Anti-Zinc transporter 8 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against zinc transporter 8.


Abnormal cochlea morphology

description: An abnormality of the cochlea.


name: Glycogen accumulation in pulmonary interstitial cells

description: Accumulation of immature interstitial cells containing abundant cytoplasmic glycogen defined by periodic acid-Schiff (PAS) positive cells.


Abnormal circulating glycerol level

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


Pseudoepiphysis of the 1st metacarpal

description: The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal.


Sacral meningocele

description: A congenital abnormality in the sacral region of the spine, in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface.


name: Glomerular basement membrane amyloid spicule

description: Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains.


Triangular epiphyses of the metacarpals

description: A triangular appearance of the epiphyses of the metacarpals. Thess epiphyses are located at the distal end of the metacarpals.


Pulmonary cylindroma

description: A cylindroma located in the lung. Cylindromas are well-circumscribed, smooth, pale pink nodular tumors, often with arborizing vessels visible. The tumors are slow growing and vary in size from a few millimeters to over 5 mm.


Fusiform cerebral aneurysm

description: A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery.


congenital pulmonary sequestration

description: A rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation.


Abnormal size of pituitary gland

description: A deviation from the normal size of the pituitary gland.


vagus nerve paraganglioma

description: A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia.


Insulin-resistant diabetes mellitus

description: A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels.


Anal intraepithelial neoplasia

description: Anal intraepithelial neoplasia (AIN) is a premalignant lesion of the anal mucosa that is a precursor to anal cancer.


Paroxysmal lethargy

description: Repeated episodes of sudden-onset and transient lethargy.


name: Erlenmeyer flask deformity of the femurs

description: Flaring of distal femur.


Increased alpha-globulin

description: An abnormally increased level of circulating alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant.


Anti-Ma1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma1.


Plantar edema

description: An abnormal accumulation of fluid beneath the skin on sole of the foot.


Closed neural tube defect

description: A type of neural tube defect that is covered by skin.


Foot polydactyly

description: A kind of polydactyly characterized by the presence of a supernumerary toe or toes.


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


Obstructive azoospermia

description: Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.


name: histidinuria due to a renal tubular defect

description: An increased concentration of histidine in the urine.


Inferior crossed fused renal ectopia

description: A type of cross fused renal ectopia characterized by fusion between the upper pole of the cross-fused ectopic kidney (located more inferiorly relative to the other kidney) and the lower pole of the other orthotopic kidney (located in a more superior position).


Beaded septum sign

description: Irregular and nodular thickening of interlobular septa reminiscent of a row of beads.


Abnormal lateral ventricle morphology

description: A morphological anomaly of the lateral ventricle.


name: Atrophy/Degeneration affecting the cerebrum

description: The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain.


Microtia, first degree

description: Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean.


name: Abnormal cortical radial artery morphology

description: Any structural anomaly of the radial arteries that branch off at right angles from the arcuate artery and carry blood toward the cortex of the kidney.


name: Focal aware motor seizure with dysarthria/anarthria

description: A focal motor seizure with dysarthria / anarthria characterized by retained awareness throughout the seizure.


Cerebral artery atherosclerosis

description: The formation of the formation of fibrofatty lesions in the wall of an artery located in the brain.


name: Abnormal aggressive, impulsive or violent behavior


Anomaly of the upper limb diaphyses

description: A structural abnormality of a diaphysis of the arm.


Pulmonary arterial plexiform lesion

description: Focal proliferation of pulmonary artery endothelial cells, leading to the formation of complex capillary-like channels.


Febrile status epilepticus

description: A seizure lasting 30 minutes without fully regaining consciousness, provoked by fever (temperature greater than 38.0 degrees Celcius) at the time of seizure-onset, without a prior history of afebrile seizure and with no evidence of an acute central nervous system infection or insult.


Non-periodic recurrent fever

description: Episodic fever that recurs at irregular intervals.


Superior mediastinal mass

description: A type of mediastinal mass that is located above the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4).


Abnormal rapid eye movement sleep

description: Abnormality of REM Sleep are phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tone except for the eye and middle-ear muscles. There are also phases of rapid eye movements.


C3 nephritic factor positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb).


Retroperitoneal paraganglioma

description: A paraganglioma (previously refered to as chemodectoma) located in the retroperitoneal space. Paragangliomas (also known as extra-adrenal pheochromocytomas) are rare tumors that arise from extra-adrenal chromaffin cells. Paragangliomas are characterized by secretions of excessive catecholamines, including epinephrine, norepinephrine and dopamine, which may lead to clinical symptoms, including episodic hypertension, tachycardia and diaphoresis. However, between 40 and 50% of paragangliomas are non-functional.


Aplasia of the left hemidiaphragm

description: Congenital absence of the left half of the diaphragm.


Abnormal neuron morphology

description: A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions.


Satyr ear

description: Sharp pointed superior portion of the ear, with variable overfolding of the helix.


Appendicitis

description: Appendicitis is inflammation of the vermiform appendix. Appendix a hollow organ located at the tip of the cecum, usually in the right lower quadrant of the abdomen.


Abnormal reproductive system morphology

description: A structural or developmental anomaly of any of the tissues involved in the genital system.


2-4 finger syndactyly

description: Syndactyly with fusion of the fingers two to four.


name: Elevated right ventricular systolic pressure

description: Elevation of right ventricular systolic pressure (RVSP) above normal limits. In adults, RVSP is normally 20-30 mmHg.


Small hand

description: Disproportionately small hand.


Epileptic aura

description: An epileptic aura is a purely subjective clinical manifestation of an epileptic seizure. If an epileptic aura is not followed by loss of awareness or propagation to a bilateral tonic-clonic seizure then it is a type of focal aware non-motor seizure.


Paroxysmal dyspnea

description: A sudden attack of dyspnea that occurs while the affected person is at rest.


Postaxial foot polydactyly

description: Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.


name: Abnormal CSF carboxylic acid concentration

description: Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid.


hyperalphalipoproteinemia

description: An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease.


name: Focal impaired awareness manual automatism seizure

description: A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by manual automatisms at onset.


name: Osteolytic defects of the proximal phalanges of the hand


Fractures, Open

description: A traumatic break to the bone in which the continuity of the bone has broken through the skin.


Focal aware non-motor seizure

description: A focal non-motor seizure in which awareness is retained throughout the seizure.


Fractured phalanx of pes

description: A partial or complete breakage of the phalanx of pes.


malignant ear neoplasm

description: A malignant neoplasm that affects the ear. Representative examples include ceruminous adenocarcinoma and squamous cell carcinoma of the external ear and adenocarcinoma of the middle ear.


Increased urine glutamate level

description: An increased concentration of glutamate in the urine.


name: Nodular-perilymphatic pattern on pulmonary HRCT

description: A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution.


Narrow greater sciatic notch

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


precocious puberty in female

description: A precocious puberty that involves the female organism.


Abnormal urinary acylglycine profile

description: An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution.


Scanning speech

description: An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly.


Prominent stem of antihelix

description: Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix.


Ventricular septal aneurysm

description: A bowing (bulging to one side) of the interventricular septum of more than 15 mm on either side in adults and 5 mm in children during normal cardiac motion.


Intermittent hypothermia

description: Episodes of reduced body termperature.


name: Elevated circulating follicle stimulating hormone level

description: An elevated concentration of follicle-stimulating hormone in the blood.


name: Reduced circulating alpha-1-antitrypsin concentration

description: A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesized and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs.


Absent proximal phalanx of thumb

description: Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


name: Stippling of the epiphysis of the distal phalanx of the 2nd toe

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd toe.


Scalloped appearance of liver surface

description: A lesion associated with pseudomyxoma peritonei whosetypical CT appearance is scalloping of the surface of the liver and spleen caused by loculated accumulations of mucin, which distinguishes mucin from fluid ascites. The mucinous material is similar in density to water. There are also islands of higher attenuation due to scattered solid elements and calcification within mucinous material.


Delayed ossification of carpal bones

description: Ossification of carpal bones occurs later than age-adjusted norms.


Anti-GD1b IgG antibody positivity

description: The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside.


name: Anti-platelet antigen antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against antigens present on the surface of thrombocytes such as the glycoproteins GPIIb/IIIa, GPIb/IX, and GPIa/IIa.


Subependymal nodules

description: Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis.


Partially duplicated kidney

description: The presence of a partially duplicated kidney.


Abnormality of the skeletal system

description: An abnormality of the skeletal system.


Shoulder contracture

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


distal arthrogryposis

description: A muscle tissue disease characterized by congenital joint contractures of hand and feet.


Abnormal thalamic MRI signal intensity

description: A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus.


Self-cutting

description: Deliberate harm to one's body, in the form of cutting that results in tissue damage, without a conscious intent to die.


Oral aversion

description: Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing).


Stiff finger

description: A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity.


renal hypoplasia, bilateral

description: Bilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present.


name: Increased circulating NT-proBNP concentration

description: An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP).


Positive regitine blocking test

description: A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension.


Increased CSF tyrosine concentration

description: Abnormally increased levels of tyrosine in cerebrospinal fluid.


name: Elevated circulating glutarylcarnitine concentration

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


Right coronary artery ostial atresia

description: Absence of the normal opening of the coronary ostium from which the right main coronary artery originates.


name: Increased proportion of class-switched memory B cells

description: An increase in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.


Partial absence of cerebellar vermis

description: Congenital absence of a part of the vermis of cerebellum.


name: Small epiphyses of the middle phalanges of the hand


Glomerular fibronectin deposits

description: Accumulation of fibronectin in the glomerulus.


Ivory epiphyses of the 5th toe

description: Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


Muscle spasm

description: Sudden and involuntary contractions of one or more muscles.


name: Reduced circulating octadecenoylcarnitine concentration

description: Concentration of octadecenoylcarnitine (C18:1 acylcarnitine) in the blood circulation below the lower limit of normal.


name: Decreased low-density lipoprotein particle size

description: An abnormal decrease in the average size of low-density lipoprotein particle size in the blood circulation.


name: Elevated circulating lipoprotein X concentration

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


name: Duplication of the proximal phalanx of the 2nd finger

description: Partial or complete duplication of the second proximal phalanx of hand.


name: Partial duplication of the proximal phalanx of the hallux

description: Partial duplication of the proximal phalanx of big toe.


Prominent antihelix

description: The presence of an abnormally prominent antihelix.


Irregular respiration

description: Uneven rhythm of breathing.


name: Elevated circulating 5-oxoproline concentration

description: Concentration of L-pyroglutamic acid in the blood is above the upper limit of normal.


Reflex seizure

description: Seizures precipitated by exogenous stimuli.


Increased serum estriol

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


Delayed femoral head ossification

description: Delayed ossification of the femoral head.


Long proximal phalanx of finger

description: Increased length of the proximal phalanx of finger.


Tongue thrusting

description: Pressing forward of the tongue in the mouth, a retained motoric habit from infantile swallowing patterns


Aminoglycoside-induced hearing loss

description: Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics.


Increased CSF histidine concentration

description: Abnormally increased levels of histidine in cerebrospinal fluid.


Misalignment of the pulmonary veins

description: The term is commonly used to describe a putative abnormal location of pulmonary vein branches adjacent to pulmonary arteries within the same adventitial sheath. However, evidence has been provided that the vessels in question are not pulmonary veins, however represent dilated bronchial veins.


Pruritis on abdomen

description: Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the abdomen.


Dysplastic megalencephaly

description: A congenital brain malformation characterized by marked overgrowth and dysplasia affecting one or both cerebral hemispheres, and, in some cases, subcortical brain regions as well. The presence of dysplasia in dysplastic megalencephaly distinguishes it from other forms of generalized megalencephaly.


Broad toe

description: Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.


Glomerular capillary collapse

description: Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs).


Affective epileptic aura

description: Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.


Mandibular cyst

description: A closed sac that has developed in the lower jaw bone (mandibula) and contains fluid or semi-solid material.


Absence of memory B cells

description: Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin.


Single transverse palmar crease

description: The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.


Thoracocervical ectopia cordis

description: A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum.


Large vessel vasculitis

description: A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta.


Perioral radial furrowing

description: The presence of radial grooves in the skin surrounding the mouth (see Figure 4 of PMID:27833976).


name: Failure to increase oxygen saturation on hyperoxia test

description: Hyperoxia test is the initial method to distinguish critical congenital heart disease (CCHD) from pulmonary disease. The test consists in measuring an arterial blood gas at room air and 100% inspired oxygen after 10 minutes. Neonates with congenital heart disease are usually not able to increase PaO2 above 100 mm Hg during 100% oxygen administration. In patients with pulmonary disease, PaO2 generally increased greater than or equal to 100 mm Hg with 100% oxygen as ventilation-perfusion discrepancies are overcome. A positive result indicates the cardiac origin and further cardiac workup is indicated to rule out CCHD.


Failure of eruption of permanent teeth

description: Lack of tooth eruption of the secondary dentition.


Popliteal pterygium

description: A pterygium (or pterygia) occurring in the popliteal region (the back of the knee).


Sacral lipoma

description: Presence of a lipoma in the region of the sacrum.


name: Abnormal circulating organic compound concentration

description: Any deviation of the concentration of an orrganic compound from the normal range. An organic compound is defined as any compound that contains a carbon atom.


name: Elevated CSF 4-hydroxybutyric acid concentration

description: Abnormally increased level of 4-hydroxybutyric acid in the cerebrospinal fluid (CSF).


Short hallux

description: Underdevelopment (hypoplasia) of the big toe.


double outlet left ventricle

description: Double-outlet left ventricle (DOLV) is an extremely rare congenital cardiac malformation in which both the aorta and the pulmonary artery arise, either exclusively or predominantly, from the morphologic left ventricle.


name: Curved proximal phalanx of the 3rd finger

description: Curved appearance of the proximal phalanx of the 3rd finger.


name: Orthostatic hypotension due to autonomic dysfunction


Recurrent bacterial infections

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


Abnormal residual volume

description: Any deviation from normal values of the residual volume, which is defined as the volume of air left in the lungs at the end of maximal expiration (ie. the volume of air which you cannot voluntarily exhale from your lungs).


Epiphyseal stippling of the metacarpals

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


Venous malformation

description: A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region.


Abnormal penis morphology

description: Abnormality of the male external sex organ.


Hyperfibrinolysis

description: Increased degradation of fibrin, associated with clot instability and bleeding


Delayed elbow epiphyseal ossification

description: A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow.


name: Elevated circulating erythritol concentration

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


Palmoplantar hyperkeratosis

description: Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.


Increased CSF valine concentration

description: Any increased amount from normal of valine in the cerebrospinal fluid.


name: Elevated fetal middle cerebral artery peak systolic velocity

description: Increased peak systolic velocity of the fetal middle cerebral artery (MCA) as evaluated by Doppler ultrasound.


name: Conus terminalis arteriovenous malformation


Abnormal femoral torsion

description: Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range.


porokeratosis

description: A clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella.


Acidemia

description: An abnormally low blood pH (usually defined as less than 7.35).


Dystonic gait

description: Dystonic gait disorders frequently appear bizarre, particularly because activity increases dystonic tonus and posture. The abnormal posture of the foot in dystonic gait typically involves inversion, plantar flexion and tonic extension of the big toe. In many patients complex types of walking, such as walking backwards and running are paradoxically less impaired than walking forward and may seem completely unaffected. Sensory tricks, for instance, if the affected individual rests a hand on his or her neck, may improve or even normalize dystonic gait in some patients.


Cortical radial artery medial atrophy

description: Atrophy (wasting, decreased thickness) of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.


Abnormal hepatic glycogen storage

description: Change in normal glycogen storage content.


name: Elevated circulating D-dimer concentration

description: An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation.


Absent dermal elastic fibers

description: Elastic fibers not demonstrable in skin biopsy.


name: Abnormal circulating erythropoietin concentration

description: Any deviation from the normal 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.


fissured tongue

description: Accentuation of the grooves on the dorsal surface of the tongue.


Macrocephaly at birth

description: The presence of an abnormally large skull with onset at birth.


Generalized limb muscle atrophy

description: Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations.


Splinter hemorrhages

description: Thin, red to reddish-brown lines of blood (hemorrhages) under the nails. Splinter hemorrhages run vertically under the nails.


Onion bulb formation

description: Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.


Broad uvula

description: Increased width of the uvula (subjective finding).


name: Symphalangism affecting the proximal phalanx of the hallux


name: Reduced plasminogen activator inhibitor 1 activity

description: Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator.


Short phalanx of the thumb

description: Hypoplastic (short) thumb phalanx.


Double-layered patella

description: An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood.


Abnormality of upper lip vermillion

description: An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin.


name: Nonocclusive coronary artery atherosclerosis

description: Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries.


Preaxial polydactyly

description: A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe.


Abnormal judgment

description: Beliefs that deviate from what is considered rational or within the range of normal human judgment and belief formation.


Abnormal descending aorta morphology

description: A structural abnormality of the part of the aorta that begins at the aortic arch and then descends through the chest and abdomen.


Gingival hyperkeratosis

description: Hyperkeratosis of the gingiva.


Hypoplastic fifth toenail

description: Underdeveloped nails of the fifth toes.


Absent palmar crease

description: The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease).


Abnormal forebrain morphology

description: An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle.


Dilatation of renal calices

description: An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine.


name: Hyperintensity of cerebral white matter on MRI

description: A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter.


cervix erosion

description: Loss or destruction of the epithelial lining of the uterine cervix.


Unhappy demeanor

description: A noticeably unhappy disposition is characterized by negative assumptions, self-defeating talk, fear of failure, and negative rumination about past events.


Broad hallux

description: Visible increase in width of the hallux without an increase in the dorso-ventral dimension.


name: Duplication of the distal phalanx of the 2nd finger

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


Abnormal second toe morphology

description: An anomaly of the second toe.


Curved middle phalanx of the 5th toe

description: A deviation from the normal straight form of the middle phalanx of the fifth toe.


Pancreatic aplasia

description: Aplasia of the pancreas.


Swiss cheese atrial septal defect

description: Multiple defects in the atrial septum.


larynx atresia

description: A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation.


name: Increased theta frequency activity in EEG

description: Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution.


Abnormal HDL2b concentration

description: Any deviation from the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.


name: Recurrent bacterial upper respiratory tract infections

description: An increased susceptibility to bacterial upper respiratory tract infections as manifested by a history of recurrent bacterial upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).


name: Decreased post-bronchodilator forced expiratory flow 25-75%

description: A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed after the administration of a bronchodilating medication.


name: Pancreatic intraductal papillary mucinous neoplasm

description: Intraductal papillary mucinous neoplasm (IPMN) is an exocrine neoplasm of the pancreas consisting of epithelial cells growing within the pancreatic ducts (main pancreatic duct or its major branches) and producing mucin. IPMN is a mucin-producing pancreatic cystic tumor. IPMN contains epithelial cells that can create papillary projections.


Boerhaave syndrome

description: A syndrome characterized by spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part.


name: Patchy sclerosis of the proximal phalanx of the 4th toe

description: Uneven increase in bone density of the proximal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.


Abnormal communication

description: Presence of any form of communication (e.g., verbal or non-verbal) that does not align with cultural expectations or developmental level.


Curved middle phalanx of the 2nd toe

description: A deviation from the normal straight form of the middle phalanx of the 2nd toe.


name: Complete duplication of the proximal phalanx of the 3rd toe

description: Complete duplication of proximal phalanx of third toe.


name: Irregular ossification of humeral metaphyses


Increased hepatic echogenicity

description: Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device.


name: Anomalous origin of left subclavian artery

description: Origin of the left subclavian artery from an anomalous anatomical location.


Discordant atrioventricular connection

description: Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart.


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

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


Calcium phosphate crystalluria

description: The presence of calcium phosphate crystals in the urine.


name: Fractured distal phalanx of pedal digit 3

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


Thyroid nodule

description: A nodular lesion that develops in the thyroid gland. The term "thyroid nodule" refers to any abnormal growth that forms a lump in the thyroid gland.


Abnormal patella morphology

description: Abnormality of the patella (knee cap).


description: Fetal intra-abdominal umbilical vein varix (FIUVV) is defined by the focal dilatation of the fetal umbilical vein between its entry in the abdomen and its ending in the portal system. The dilatation can be defined using one of the following criteria: a portion of intra-abdominal umbilical vein that is at least 50% wider than the non-dilated portion; a dilatation of 9 mm or more, or a dilatation greater than 2 SD above the mean value for gestational age.


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


rhabdoid tumor of the kidney

description: A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor.


Avulsion fractured tibia

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


Unusual virus reactivation

description: Reactivation is the mechanism whereby a latent virus that has infected a host cell switches to a lytic stage, undergoing productive viral replication and allowing the virus to spread. This term refers to reactivation regarded as unusual because of frequency, intensity, location, or nature of the virus, in the sense that the reactivation would not be observed in an immunocompetent host.


Abnormal speech volume

description: Speech that is abnormally loud or quiet for the social context in which it is spoken.


Reduced amygdala volume

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


gonadal dysgenesis

description: A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics.


name: Abnormality of the epiphysis of the distal phalanx of the 4th toe


Decreased pulmonary fissure count

description: Lack of one or more of the normal pulmonary fissures.


name: Exaggerated rugosity of the labia majora

description: Marked rugae formation of the skin of the labia majora.


Anorectal abscess

description: An abscess located at the junction of the anal canal and the rectum.


Reduced C-peptide level

description: A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion.


name: Increased circulating thyroglobulin concentration

description: An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.


Temporal cortical atrophy

description: Atrophy of the temporal cortex.


Phenylalaninuria

description: Increased level of phenylalanine in urine.


name: Bullet-shaped middle phalanx of the 5th finger

description: Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected.


urethral obstruction

description: Blockage of the normal flow of urine in the urethra.


Visceral hallucination

description: A type of hallucination that involves the perception of internal bodily sensations or processes that do not actually exist.


Aplasia of the 3rd metacarpal

description: Absence of the third long bone of the hand.


Curved thumb phalanx

description: A deviation from the normal straight shape of a thumb phalanx.


name: Decreased circulating parathyroid hormone level

description: An abnormally decreased concentration of parathyroid hormone.


Vertebral artery calcification

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


Enlarged tectum

description: Increasaed size of the tectum, which is the region of the midbrain posterior to the cerebral aqueduct of Sylvius. The midbrain is the most superior portion of the brainstem.


Pulmonary valve defects

description: Any defect in the valve connecting the heart and the pulmonary artery.


Cardiac teratoma

description: A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumor size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone.


Triplomyelia

description: Triplication of the spinal cord - extremely rare.


name: Impaired collagen-induced platelet aggregation

description: Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics.


Follicular hyperkeratosis

description: A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.


Abnormal adiponectin level

description: A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism.


name: Fibrillar glomerular subepithelial deposits

description: Fibrillar 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 is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate).


Aplasia cutis congenita of scalp

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


Inability to walk

description: Incapability to ambulate.


name: Focal aware emotional seizure with crying

description: Focal emotional seizure with crying (dacrystic)in which awareness is retained throughout.


Fractured sternoclavicular joint

description: A partial or complete breakage of the sternoclavicular joint.


Everted antitragus

description: Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear).


Ovarian torsion

description: Ovarian torsion is a twisting of the ligaments that support the adnexa, cutting off the blood flow to the ovary.


name: Left aortic arch with isolated subclavian artery

description: The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis.


name: Aplasia/Hypoplasia of the distal phalanx of the thumb


name: Abnormal circulating C-reactive protein concentration

description: Any deviation from the normal concentration of C-reactive protein in the blood circulation.


Shoulder muscle hypoplasia

description: Underdevelopment of muscles of the shoulder.


Temporal lobe calcification

description: The presence of calcium deposition within the temporal lobe of the brain.


name: Decreased circulating dihydrotestosterone concentration

description: A reduced concentration of dihydrotestosterone in the blood circulation.


congestive splenomegaly

description: A chronic congestive enlargement of the spleen leading to the destruction of blood cells resulting in pancytopenia.


name: Multinucleation of renal tubular epithelial cells

description: Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view.


Stiff knee

description: A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity.


name: Cone-shaped epiphysis of the middle phalanx of the 3rd finger

description: A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.


name: Sclerosis of the middle phalanx of the 5th toe


Bronchomegaly

description: Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection.


name: Elevated circulating hydroxyphenlyllactic acid concentration

description: An increased concentration of 4-hydroxyphenlyllactic acid in the blood circulation.


Increased serum zinc

description: An increased consentration of zinc in the blood.


Aplasia of the sweat glands

description: Absence of the sweat glands.


Ileal atresia

description: An abnormal closure, or atresia of the tubular structure of the ileum.


name: Elevated circulating C6 acylcarnitine concentration

description: Concentration of C6 acylcarnitines in the blood circulation above the upper limit of normal. C6 acylcarnitines have a six-carbon acyl chain.


Arterial occlusion

description: Blockage of blood flow through an artery.


Abnormal platelet aggregation

description: An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.


Distal humeral metaphyseal irregularity

description: Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow).


Thinking-induced seizure

description: Seizures induced by thinking and decision-making.


Absence of acoustic reflex

description: Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli.


Glomerular capillary wire loop deposits

description: Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop.


Tragal bridge of crus of helix

description: The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix.


Increased overbite

description: Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm.


name: Elevated CSF guanidinoacetic acid concentration

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


Vaginal bleeding during sex

description: Bleeding during sex.


brachydactyly type D

description: A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has material basis in mutation in the HOXD13 gene on chromosome 2q31.1.


Abnormality of the urinary system

description: An abnormality of the urinary system.


Absent humeral epiphyseal ossification

description: Lack of formation of bone in the epiphysis of the humerus.


Non-necrotizing granuloma

description: A granuloma which is not associated with necrotic changes.


name: Cone-shaped epiphysis of the middle phalanx of the 4th finger

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


Narrow nasal tip

description: Decrease in width of the nasal tip.


name: Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio

description: The relative concentration of tetrahydrocortisol plus 5-alpha-tetrahydrocortisol relative to that of tetrahydrocortisone is below the lower limit of normal.


Fetal trigonocephaly

description: A fetal ultrasound finding defined by flattening of the occiput with pointing of the frontal bones and brachycephaly with an increased cephalic index. It is characterized by keel shaped deformity of forehead with midline ridge, bilateral fronto temporal constriction with compensatory biparietal expansion, supra orbital and lateral orbital retrusion and hypotelorism. This finding is said to resemble a strawberry.


Bracket epiphysis of the 1st metacarpal

description: An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate.


Prominent median palatal raphe

description: Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate.


Cutaneous amyloidosis

description: The presence of amyloid deposition in the superficial dermis.


lobar holoprosencephaly

description: Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally.


Aplastic colon

description: Congenital absence of the colon


Abnormal cerebrospinal fluid morphology

description: An abnormality of the cerebrospinal fluid (CSF).


name: Partial duplication of the proximal phalanx of the 3rd finger

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


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

description: A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.


description: Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, and in association with other features.


Aortic valve leaflet calcification

description: Deposition of calcium salts in the leaflets (cusps) of the aortic valve.


Mid-frequency hearing loss

description: A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz).


name: Abnormality of the shoulder girdle musculature


Frontal venous angioma

description: A venous angioma of the frontal lobe of the brain.


name: Aplasia/Hypoplasia of the phalanges of the 4th finger


name: Ivory epiphysis of the proximal phalanx of the 2nd toe


Abnormality of the pineal gland

description: An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin.


name: Lack of gonadotropin-releasing hormone pulsatility

description: Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion.


name: Postlingual sensorineural hearing impairment

description: A form of sensorineural hearing impairment with onset after the acquisition of speech.


Telangiectasia of the oral mucosa

description: Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa.


Hyperglutaminemia

description: An increased concentration of glutamine in the blood.


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


Abnormal biliary tract morphology

description: A structural abnormality of the biliary tree.


name: Multilamellation of cortical peritubular capillary basement membranes

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


Autoimmune antibody positivity

description: The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.


name: Dilatation of Inferior mesenteric artery

description: Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery .


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


name: Elevated urinary isovalerylglycine level

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


Decorticate rigidity

description: A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus.


Hemiatrophy of upper limb

description: Unilateral atrophy (reduction in size) of an arm.


Open neural tube defect

description: A type of neural tube defect that is not covered by skin.


Abnormal T-wave

description: An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles.


Atrial situs inversus

description: Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side.


name: Focal aware orofacial automatism seizure

description: A type of focal automatism seizure characterized by orofacial automatisms at onset and during which awareness is fully retained throughout.


name: Elevated circulating C18 acylcarnitine concentration

description: Concentration of C18 acylcarnitines in the blood circulation above the upper limit of normal. C18 acylcarnitines have a eighteen-carbon acyl chain.


Typical absence status epilepticus

description: Typical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged typical absence seizure.


Elevated residual volume

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


Type IV truncus arteriosus

description: Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present.


name: Abnormal circulating valine concentration

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


name: Enlarged epiphysis of the 1st metatarsal


Dependency on parenteral nutrition

description: Inability to ingest sufficient quantities of nutrition by mouth or by tube-feeding with the corresponding requirement for intravenous administration of nutrition.


Arcuate vein intimal mucoid edema

description: Accumulation of edematous extracellular matrix in the inner layer (intima) of arcuate veins of the kidney. The material resembles mucus and appears pale blue on hematoxylin and eosin staining.


name: Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity


Abnormal tarsal bone mineral density

description: This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone.


congenital laryngeal cyst

description: Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia.


Nut food product allergy

description: Hypersensitivity in form of an adverse immune reaction against nut food products.


Nevus flammeus nuchae

description: Naevus flammeus localized in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns.


Dysplasia of the femoral head

description: The presence of developmental dysplasia of the femoral head.


Very preterm birth

description: Birth before 32 completed weeks of gestation (28 up to but not including 32 weeks).


name: Dysfunction of lateral corticospinal tracts


Phenotypic abnormality

description: A phenotypic abnormality.


Absent axillary hair

description: Absence of axillary hair.


Abnormal renal pelvis morphology

description: An abnormality of the renal pelvis.


Aplasia/Hypoplasia of fingers

description: Small/hypoplastic or absent/aplastic fingers.


Dislocated radial head

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


Abnormal odontoid tissue morphology

description: An abnormality of an odontoid tissue.


Feeding difficulties

description: Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.


Absent malleus

description: Aplasia of the malleus.


name: Patchy sclerosis of the middle phalanx of the 3rd finger

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


Rest limb pain

description: Rest pain is a continuous unrelenting pain due to ischemia of the lower leg, beginning with or being aggravated by elevation and being relieved by sitting with legs in a dependent position or by standing.


Unilocular ovarian cyst

description: An ovarian cyst without septa and a solid component.


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

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


Anomalous pulmonary venous return

description: A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood.


name: Abnormal CSF branched chain amino acid concentration

description: Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid.


name: Anti-transcription intermediary factor-1gamma antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transcription intermediary factor-1gamma.


name: Abnormality of circulating beta-2-microglobulin level

description: A deviation from the normal concentration of beta-2-microglobulin in the blood.


Abnormal atrioventricular connection

description: An abnormality of the circulatory connection between atria and ventricles.


Lactescent serum

description: Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level.


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

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


Triceps aplasia

description: Absence of the triceps muscle.


name: Absence of large von Willebrand factor multimers

description: Absence of large von Willebrand Factor multimers on gel electrophoresis.


Pruritus vulvae

description: A sensation of itching in the vulvar region.


Cupped ear

description: Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).


Salt craving

description: Hypersalivation, also known as salt craving, refers to an excessive desire to consume salt (sodium chloride) or salty foods.


Proximal fibular overgrowth

description: Overgrowth of the proximal part of the fibula.


Light-chain paraproteinemia

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


Airway casts

description: A replicate of airways from accumulated and condensed mucous and cellular material. These semisolid occlusions take the shape of the airway within they are formed, leading to obstruction of the tracheobronchial tree with consecutive respiratory insufficiency. Based on their principal composition, one can differentiate fibrin casts and mucin casts. Plastic bronchitis is the name of the condition characterized by the formation of airway casts.


name: Expanded metacarpals with widened medullary cavities


name: Generalized convulsive status epilepticus

description: A type of bilateral convulsive seizure of generalized onset that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus.


name: Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe


name: Aplasia/Hypoplasia involving the musculature of the upper arm

description: Absence or underdevelopment of the muscles of the upper arm.


AV nodal tachycardia

description: A type of supraventricular tachycardia that originates in the atrioventricular node.


Impaired clot retraction

description: Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration.


name: Irregular epiphysis of the proximal phalanx of the thumb

description: Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


name: Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis

description: A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


Anti-CV2/CRMP5 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CV2/CRMP5. Anti-CV2/CRMP5 autoantibody is the most commonly detected anti-neuronal autoantibody. Patients with typical paraneoplastic chorea show fully developed chorea in the course of weeks to months with acute inflammation in the striatum.


name: Absent pigmentation of the ventral chest

description: Lack of skin pigmentation (coloring) of the anterior chest.


name: Abnormal circulating amylase concentration

description: A deviation from the normal concentration of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.


Abnormal seventh cranial physiology

description: Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve.


Pulmonary necrosis

description: Cellular death affecting one or more parts of the lung. Necrosis is caused by diverse external and internal factors which result in the unregulated digestion of cell components.


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

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


Elevated terminal:vellus ratio

description: An increased proportion of terminal hairs compared to vellus hairs.


Retrocollis

description: A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.


name: Abnormality of reproductive system physiology

description: An abnormal functionality of the genital system.


Low-grade fever

description: Mild fever that does not exceed 38.5 degrees centigrade.


Anti-GFAP antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glial fibrillary acidic protein (GFAP).


Anti-Ro52/TRIM21 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro52/TRIM21.


name: Shortening of all middle phalanges of the fingers

description: Short, hypoplastic middle phalanx of finger, affecting all fingers.


name: Abnormal peripheral nervous system ganglion morphology

description: An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system.


Nodular pattern on pulmonary HRCT

description: A nodular pattern is characterized on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter.


name: Decreased level of tissue plasminogen activator

description: The tPA protein catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis


Hypoplasia of the small intestine

description: Underdevelopment of the small intestine.


Delusion of control

description: A false belief that another person, group of people, or external force controls one's general thoughts, feelings, impulses, or behaviors.


cutaneous leiomyosarcoma

description: An aggressive malignant smooth muscle neoplasm, arising from the skin. It is characterized by a proliferation of neoplastic spindle cells.


Exencephaly

description: A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium.


Impaired distal vibration sensation

description: A decrease in the ability to perceive vibration in the distal portions of the limbs.


Aortic elastic fiber thinning

description: A thinning out of elastic fibers of the media of the aorta that creates widening of intralamellar spaces, as identified on a stain for elastic fibers.


Cone-shaped metacarpal epiphyses

description: A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones.


Aplasia/Hypoplasia of the clavicles

description: Absence or underdevelopment of the clavicles (collar bones).


EEG with spike-wave complexes (<2.5 Hz)

description: The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG).


name: rosette-forming glioneuronal tumor of fourth ventricule

description: A central nervous system neoplasm mostly occurring in the fourth ventricle region. It is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. Cytologic atypia is minimal.


Wide cavum septum pellucidum

description: Width of the cavum septum pellucidum above the upper limit of normal, which is defined as a separation of greater than one cm of the leaves of the cavum septum pellucidum.


Tongue fasciculations

description: Fasciculations or fibrillation affecting the tongue muscle.


Posterolateral diaphragmatic hernia

description: A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity.


Motor deterioration

description: Loss of previously present motor (i.e., movement) abilities.


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


name: Abnormal circulating arginine concentration

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


Decreased serum estradiol

description: A reduction below normal concentration of estradiol in the circulation.


name: Duplication of the proximal phalanx of the 4th toe

description: Partial or complete duplication of the proximal phalanx of fourth toe.


Focal emotional seizure

description: Seizures presenting with an emotion or the appearance of having an emotion as an early prominent feature, such as fear, spontaneous joy or euphoria, laughing (gelastic), or crying, (dacrystic). These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer.


name: Disseminated infection with live vaccine virus

description: A dissemination viral infection caused by a live attenuated vaccine virus.


Broad 4th toe

description: A broad appearance of the fourth toe.


name: Low-frequency sensorineural hearing impairment

description: A form of sensorineural hearing impairment that affects primarily the lower frequencies.


name: Decreased immunoglobulin level in body fluid

description: An reduction from normal levels of immunoglobulins in body fluids, such as mucous.


Craniofacial osteosclerosis

description: Abnormally increased density of craniofacial bone tissue.


Abnormality of mesenteric lymph nodes

description: A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery.


name: Status epilepticus without prominent motor symptoms

description: There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma.


Shoulder external rotation contracture

description: A type of shoulder contracture characterized by decreased internal rotation of shoulder, that is, by a chronic reduction in active and passive ability to internally rotate the humerus at the shoulder joint (if the arm is flexed at the elbow, Internal rotation of the shoulder rotates the forearm towards the center of the body).


Lhermitte's sign

description: An electric shock-like sensation that occurs on flexion of the neck. This sensation radiates down the spine, often into the legs, arms, and sometimes to the trunk.


Inferior pubic ramus hypoplasia

description: Underdevelopment of the lower branch of the pubis bone (inferior pubic ramus).


Broad humeral epiphyseal plate

description: Increased width of the humeral epiphyseal growth plate.


name: Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis

description: A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


name: Abnormal morphology of right ventricular trabeculae

description: Any structural anomaly of the muscular columns which project from the inner surface of the right ventricle of the heart (cardiac trabeculae, trabeculae carneae).


name: Impairment of the reflex of the tensor tympani muscle


Bile duct polyp

description: An elevated growth from the the mucosa of the bile duct.


Focal T2 hypointense thalamic lesion

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


Increased female libido

description: Elevated sexual desire in female


Prominent subcalcaneal fat pad

description: Abnormally increased prominence of the fat pad underneath the heal. This feature can be appreciated in figure 1 of PMID:26769062.


name: Elevated circulating parathyroid hormone level

description: An abnormal increased concentration of parathyroid hormone.


name: Decreased specific pneumococcal antibody level

description: The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci.


Chondritis of pinna

description: Inflammation of the cartilage of the external ear.


Iliac crest serration

description: Irregularities of the iliac crest that produce the appearance of a lace border around it.