Increased CSF/serum albumin ratio

description: An increase above normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.


High myoinositol in brain by MRS

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

description: An elevated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS).


Abnormal cell morphology

description: Any anomaly of cell structure.


Abnormality of redox activity

description: An abnormality of the processes that maintain the redox environment of a cell or compartment within a cell, that is, the balance between reduction and oxidation chemical reactions.


name: Increased reactive oxygen species production

description: An accumulation of free radical groups in the body inadequately neutralized by antioxidants, which creates a potentially unstable and damaging cellular environment linked to tissue damage.


name: Abnormal circulating beta globulin level

description: A deviation from the normal concentration of beta globulin. The beta globulins are a group of globular (globe-shaped) proteins in blood.


Beta 2-microglobulinuria

description: Increased level of beta 2-microglobulins in the urine.


Anagen effluvium

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


Congenital panfollicular nevus

description: A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation.


Recurrent plantar mycosis

description: A history of repeated fungal infections located on the sole of the foot, usually manifested by scaling, maceration, and itching.


Hyperpigmented papule

description: A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin.


Erythematous plaque

description: A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation.


Erythematous macule

description: A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation.


Testicular lipomatosis

description: Multiple foci of adipocytes within the testicular interstitium, usually presenting as multiple bilateral ill-defined hyperechoic intratesticular lesions of different sizes but generally with maximum diameter of 4 mm.


Periarticular calcification

description: Calcified deposits in soft tissue structures outside a joint.


Self-neglect

description: Neglecting one's own needs and well-being.


Cervical hemivertebrae

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


Positive perchlorate discharge test

description: An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficient time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate discharge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid.


name: Abnormal circulating thyroglobulin concentration

description: A deviation from the normal concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.


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.


Vaginal adenosis

description: Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life.


Fused labia majora

description: The outer labia are sealed together.


Abnormal bladder morphology

description: Any structural anomaly of the bladder.


Bladder duplication

description: A congenital anomaly characterized by the presence of two bladders.


Myocardial bridging

description: A congenital variant of a coronary artery in which a portion of an epicardial coronary artery (most frequently the middle segment of the left anterior descending artery) takes an intramuscular course.


Venous stenosis

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


Microcoria

description: A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs.


Palmoplantar erythema

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


Coated aorta

description: Regular circumferential periaortic fibrosis involving the whole aorta and leading to a coated aorta appearance on computed tomography scans


Descending aorta hypoplasia

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


Abnormal coronary artery physiology

description: Any anomaly of the function of a coronary artery.


Class I obesity

description: Obesity with a body mass index of 30 to 34.9 kg per square meter.


Class II obesity

description: Obesity with a body mass index of 35 to 39.9 kg per square meter.


Class III obesity

description: Obesity with a body mass index of 40 kg per square meter or higher.


Overweight

description: Increased body weight with a body mass index of 25-29.9 kg per square meter.


name: Anomalous coronary artery arising from the opposite sinus

description: Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva.


name: Anomalous origin of the circumflex artery from the right sinus of Valsalva

description: The circumflex coronary artery originates from the right aortic sinus of Valsalva.


Coronary artery sandwich anomaly

description: Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva, with the additional feature that the artery passes between the two great arteries. This carries a risk of the artery being compressed by these two vessels,


Yellow papule

description: A papule with yellow color.


Gottron's papules

description: Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints.


Piezogenic pedal papules

description: Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum.


Nevus spilus

description: A tan, regularly bordered patch with darker macules within the lesion.


Nevus sebaceus

description: A solitary yellow-orange slightly raised plaque typically on scalp or face. The plaque typically thickens and becomes more verrucous or pebbly during childhood.


Skin-colored papule

description: A papule with the same color as the surrounding skin.


Scleral rupture

description: Breakage of the sclera.


Delayed thelarche

description: Later than normal development of the breasts.


Coronary-pulmonary artery fistula

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


Hypoplastic hippocampus

description: Underdevelopment of the hippocampus.


Visual gaze preference

description: An abnormality of gaze that can be observed following an acute supranuclear cerebral lesion (e.g., stroke) that is characterized by an acute inability to direct gaze contralateral to the side of the lesion and is accompanied by a tendency for tonic deviation of the eyes toward the side of the lesion.


Multiple biliary hamartomas

description: Multiple biliary hamartomas are a rare clinicopathologic entity, consisting of small (less than 1.5cm), usually multiple and nodular cystic lesions in the liver.


Calcinosis cutis

description: Deposition of calcium in the skin.


Increased body fat percentage

description: The percentage of fat as a part of total body weight above the norm, usually defined as 32% for females and 25% for males.


name: Elongated chordae tendinae of the mitral valve

description: Abnormal increased in length of the chordae tendinae of the mitral valve.


name: Abnormal morphology of the chordae tendinae of the mitral valve

description: A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve.


Palmoplantar scaling skin

description: Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot.


Scaling skin on fingertip

description: Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips.


Psoriasiform lesion

description: A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus.


Serpiginous cutaneous lesion

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


Annular cutaneous lesion

description: A lesion of the skin with a ring-like distribution.


Hyperpigmented nodule

description: A nodule of the skin that exhibits an increased amount of pigmentation.


Xanthomas of the palmar creases

description: The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.


Harlequin phenomenon

description: The Harlequin phenomenon consists of a sudden change in skin color, resulting in two different body colors, one on each half of the body.


Positive pathergy test

description: With the pathergy test, a small, sterile needle is inserted into the skin of the forearm. The site of injectionis circuled and observed after one and two days. If a small red bump or pustule at the site of needle insertion occurs, the pathergy test is considered to have a positive (abnormal) result.


Peau d'orange

description: Swelling and dimpling of the surface of the skin, which is typically associated with carcinoma of the breast.


Ocular melanocytosis

description: A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared.


Shawl sign

description: Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back.


V-sign

description: Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest.


Plantar edema

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


Palmar edema

description: An abnormal accumulation of fluid beneath the skin on the palm of the hand.


Abnormal T cell subset distribution

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


name: Abnormal mean corpuscular hemoglobin concentration

description: A deviation from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.


name: Decreased mean corpuscular hemoglobin concentration

description: A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.


name: Increased mean corpuscular hemoglobin concentration

description: An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell).


Eccentric visual fixation

description: A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees.


name: Elevated circulating ribitol concentration

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


Optic nerve misrouting

description: Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp).


Periorbital purpura

description: Multiple red/purple spots on the skin that surrounds the eyes that do not blanch (whiten) upon pressure. Purpura is caused by subcutaneous bleeding.


name: Periorbital ecchymosis with tarsal plate sparing

description: Subcutaneous bleeding with a diameter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate.


Yellow nodule

description: A type of skin nodule (a lesions that is greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat) with a yellowish coloration (that reflects a high lipid content of the lesion).


Periungual teleangiectasia

description: Telangiectasia (small dilated blood vessels) located near to the fingernails or toenails.


Lamellar cataract with riders

description: Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens.


Coronary cataract

description: A type of cataract characterized by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown.


Anterior chamber cells

description: Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.


Anterior chamber cells grade 1+

description: Anterior chamber cells with 6-15 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.


Anterior chamber cells grade 0.5+

description: Anterior chamber cells with 1-5 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.


Anterior chamber cells grade 0

description: Anterior chamber cells with less than one cell in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.


Anterior chamber cells grade 2+

description: Anterior chamber cells with 16-25 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.


Anterior chamber cells grade 3+

description: Anterior chamber cells with 26-50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.


Anterior chamber cells grade 4+

description: Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.


name: Abnormal morphology of the choroidal vasculature


Polypoidal choroidal vasculopathy

description: The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization.


Choroidal vascular hyperpermeability

description: Increased tendency of choiroidal blood vessels to allow fluids to leak characterized by multifocal choroidal hyperfluorescence on indocyanine green angiography (ICGA).


Christmas tree cataract

description: A type of cataract that shows a spectacular display of multiple colors that glitters with the change of incident light like an illuminated Christmas tree.


Mild myopia

description: A mild form of myopia with up to -3.00 diopters.


Macular hemorrhage

description: Bleeding occurring within the macula lutea of the retina.


Abnormal superior vena cava morphology

description: Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart.


Abnormal inferior vena cava morphology

description: Any structural anomaly of the principal vein draining blood from the lower portion of the body.


Abnormal left atrium morphology

description: Any structural abnormality of the left atrium.


Abnormal right atrium morphology

description: Any structural abnormality of the right atrium.


Foveal hemorrhage

description: Bleeding occurring within the fovea.


Submacular hemorrhage

description: Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation.


Tapetal-like fundal reflex

description: Golden, scintillating, particulate reflection noted on fundus examination (typically in the macula and sparing the fovea). The term tapetal is used to describe this 'metallic' sheen appearance as it is thought to be similar to the 'tapetal' reflex seen in the eyes of certain animals.


Hyperphoria

description: Tendency for the visual axis of one eye to be higher than that of the other.


Hyperdeviation

description: A type of strabismus in which the visual axis of one eye is higher than that of the other.


Hypodeviation

description: A type of strabismus in which the visual axis of one eye is lower than that of the other.


Cyclodeviation

description: Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes.


Abnormal extraocular muscle physiology

description: A functional anomaly of the muscles of the eye.


name: Abnormal superior oblique muscle physiology

description: A functional anomaly of the superior oblique muscle, a fusiform muscle that originates in the upper, medial side of the orbit. The superior oblique muscle abducts, depresses and internally rotates the eye, and is the only extraocular muscle innervated by the fourth cranial nerve.


Superior oblique muscle weakness

description: Decreased strength of the superior oblique muscle.


Superior oblique muscle restriction

description: Mechanical limitation of the range of movement of the superior oblique muscle.


Superior oblique muscle overaction

description: An ocular motility abnormality characterized by an overacting superior oblique muscle resulting to vertical incomitance of the eyes in lateral gaze. On examination, this is commonly seen as a downshoot of the adducting eye occuring when gaze is directed into the field of action of the inferior oblique muscle, producing a greater downward excursion of the adducted eye than of the abducted eye.


Superior oblique muscle underaction

description: Reduced ocular movement of the superior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy.


name: Abnormal inferior oblique muscle physiology

description: A functional anomaly of the inferior oblique muscle, an extraocular muscle that has its origin on the maxillary bone just posterior to the inferior medial orbital rim and lateral to the nasolacrimal canal and that is innervated by the inferior branch of the oculomotor nerve.


Inferior oblique muscle restriction

description: Mechanical limitation of the range of movement of the inferior oblique muscle.


Inferior oblique muscle weakness

description: Decreased strength of the inferior oblique muscle.


Inferior oblique muscle overaction

description: A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye.


name: Abnormal inferior rectus muscle physiology

description: A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye.


Inferior rectus muscle weakness

description: Decreased strength of the inferior rectus muscle.


Inferior rectus muscle restriction

description: Mechanical limitation of the range of movement of the inferior rectus muscle.


name: Abnormal superior rectus muscle physiology

description: A functional anomaly of the superior rectus muscle, an extraocular muscle that is innervated by the superior division of the oculomotor nerve, and whose primary function is the elevation of the globe.


Orbital schwannoma

description: A schwannoma (benign, usually encapsulated slow growing tumor composed of Schwann cells) located in the orbit.


Lid lag on downgaze

description: Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign.


name: Abnormal medial rectus muscle physiology

description: A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball.


Upper eyelid entropion

description: An inward turning (inversion) of the margin of the upper eyelid.


Anterior blepharitis

description: A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles.


Posterior blepharitis

description: A type of blepharitis that affects the meibomian glands and meibomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia.


Epicanthus superciliaris

description: A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye).


Corneal astigmatism

description: A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea.


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.


Sterile abscess

description: An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms.


Abnormal plasma cell count

description: An abnormal number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.


Reduced plasma cell count

description: An abnormally low number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.


Elevated plasma cell count

description: An abnormally high number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.


name: Abnormal proportion of CD4+ central memory cells

description: An abnormal proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype.


name: Abnormal proportion of CD4+ effector memory cells

description: An abnormal proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.


name: Reduced proportion of CD4+ effector memory T cells

description: An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.


name: Elevated proportion of CD4+ effector memory T cells

description: An abnormally increased proportion of effector memory CD4+ T cells. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype.


Increased circulating oleate level

description: An abnormally high concentration of oleic acid (oleate) in the blood circulation.


name: Increased circulating octadecanoate level

description: An abnormally high concentration of octadecanoate in the blood circulation. Octadecanoate is a fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid).


name: Increased circulating myristoleate level

description: An abnormally high concentration of myristoleate in the blood circulation.


name: Anti-myelin-associated glycoprotein antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG).


Alpha-aminobutyric aciduria

description: Increased amount of alpha-aminobutyric acid in the urine.


name: Reduced reactive oxygen species production in neutrophils

description: An abnormal reduction in the amount of reactive oxygen produced by neutrophils in the respiratory burst.


Abnormal ureter morphology

description: A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.


Abnormal ureter physiology

description: A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.


Vasospasm

description: Narrowing of an artery due to constriction of the blood vessels.


Elevated urinary N-butyrylglycine

description: An increased level of N-butyrylglycine in the urine.


Increased urinary zinc level

description: An abnormally elevated amount of zinc in the urine, typically as assessed by a 24 hour urine collection.


Abnormal urinary mineral level

description: An abnormal concentration or amount of a mineral in the urine. Medically relevant minerals include calcium, phosphorus, potassium, sodium, chloride, magnesium, iron, zinc, iodine, chromium, copper, fluoride, molybdenum, manganese, and selenium.


name: Elevated circulating glycolate concentration

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


Fixation-off epileptiform discharges

description: Fixation off sensitivity (FOS) is characterized by posterior or generalized epileptiform discharges that consistently occur with conditions that eliminate central vision, such as closed eyes, complete darkness, modified Ganzfeld stimulation (using a large white surface without visual cues), and Frenzel lenses. The FOS electroencephalogram (EEG) pattern usually consists of spikes/polyspikes and waves localized in occipital regions (bilateral or unilateral) or generalized discharges. It is usually inhibited by fixation of gaze, observing patterns, or intermittent photic stimulation (e.g., flashing light or patterns used as stimuli during the recording of the EEG).


name: Steroid-sensitive nephrotic syndrome with infrequent relapses

description: A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period.


name: Steroid-sensitive nephrotic syndrome with frequent relapses

description: A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period.


Steroid-dependent nephrotic syndrome

description: A type of nephrotic syndrome in which two consecutive relapses (albumin urine dipstick at least 3+ or proteinuria greater than 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) occur during corticosteroid therapy, or within 14 days of ceasing therapy.


name: Abnormal placental adhesion into the uterine wall

description: Abnormal placental adhesion is characterized by an anomalous adherence of the placenta to the uterine wall. Based on the degree of adhesion, placental invasion can be classified into accreta, increta, or percreta.


Placenta percreta

description: Placenta percreta is a rare form of morbidly adherent placenta with penetration through the myometrium reaching serosa and even adjacent pelvic organs.


Placenta increta

description: Abnormal placental pentration into but not beyond the uterine wall.


Prenatal double bubble sign

description: Sonographic detection of a double bubble sign in the upper abdomen is strongly indicative of duodenal obstruction. One bubble represents fetal stomach, and the other is attributed to a dilated proximal part of the duodenum; continuity between both bubbles is required for the sign.


name: Abnormal umbilical blood flow measurement


name: Decreased circulating creatine kinase concentration

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


Abnormal fetal skeletal morphology

description: An anomalous structural finding of the fetal skeleton. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other terms from the skeletal hierarchy can also be used to describe fetal phenotypes.


Reduced fetal femur/foot length ratio

description: This ratio relates the length of the fetal femur to that of the fetal foot. The ratio is approximately 1 throughout the age range of 14 to 40 weeks of gestation. A substantial reduction in the raio can help differentiate fetuses that have dysplastic limb reduction from those whose limbs are short because of constitutional factors or IUGR. It can reduce the problem of an unknown gestational age and help to distinguish between fetal skeletal dysplasia and intrauterine growth retardation caused by other factors.


Moderate to late preterm birth

description: Birth at 32 to 36 completed weeks of gestation.


Extremely preterm birth

description: Birth before 28 completed weeks of gestation (up to and including 27 weeks and 6 days of gestation).


Very preterm birth

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


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.


Abnormal neck morphology

description: Any structural anomaly of the neck region.


Abnormal neck physiology

description: Any functional anomaly of the neck region.


Syntelencephaly

description: Syntelencephaly is a rare malformation that consists of an abnormal midline connection of the cerebral hemispheres in the posterior frontal and parietal regions, with interhemispheric separation of the basal forebrain, anterior frontal lobes, and occipital regions.


Fetal pericardial effusion

description: An abnormal accumulation of fluid in which the heart is partially or completely surrounded by fluid that is seen in all views and the thickness of the fluid as observed by prenatal ultrasound is above age-dependent norms.


Fetal skin edema

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


Loculated ascites

description: A type of ascites (peritoneal fluid collection) that is divided into loculi (compartments) by septa (fibrous walls). Ascites fluid can become loculated when confined by adhesions, malignancy or infection.


Meconium pseudocyst

description: A meconium-containing cyst in the peritoneal space . Meconium pseudocysts form in the presence of meconium peritonitis, which is defined as a sterile peritonitis caused by escape of meconium from the intestinal tract into the general peritoneal cavity during the fetal or perinatal period. When the extruded meconium becomes walled off, it can form a rim-calcified mass representing the meconium pseudocyst.


name: Premature closure of the ductus arteriosus

description: A prenatal partial or complete closure of the ductus arteriosus (i.e., prior to delivery).


Fetal pleural effusion

description: Fetal pleural effusion is the accumulation of excess fluid in the layers of tissue (pleura) lining the lungs and wall of the chest. It may be primary, also termed hydrothorax, occurring as an isolated finding or it may be secondary, most commonly resulting from non-immune hydrops.


Fetal chylothorax

description: The presence of chyle (a type of lipid-rich lymph) in the pleural space (the space surrounding the lung) as observed in a fetus.


Fetal hydrothorax

description: Accumulation of lymphatic fluid in the pleural space. This finding is usually observed by prenatal sonography. Once neonatal feeding is established and the lymphatic fluid contains chyle, transformation to chylothorax may be observed.


Diskitis

description: Inflammation of an intervertebral disk or disk space.


name: Compound muscle action potential amplitude facilitation

description: Compound muscle action potential amplitude (CMAP) facilitation denotes an increase in tendon reflexes, strength, or CMAP amplitude after 10 seconds of maximal voluntary contraction.


Distal clavicular thinning

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


Crouch gait

description: A gait disturbance that is characterized by excessive ankle dorsiflexion, knee and hip flexion during the stance phase.


name: Abnormal amyloid beta 42 peptide CSF concentration

description: Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta42, which is 42 amino acids in length, is the longer form.


name: Decreased amyloid beta 42 peptide CSF concentration

description: A reduction from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF).


name: Increased amyloid beta 42 peptide CSF concentration

description: An elevation above the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF).


name: Abnormal amyloid beta 40 peptide CSF concentration

description: Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta40, which is 40 amino acids in length, is the shorter form.


name: Increased amyloid beta 40 peptide CSF concentration

description: An elevation above the normal concentration of amyloid beta 40 peptide in the cerebrospinal fluid (CSF).


name: Abnormal amyloid beta peptide CSF concentration

description: Any anomaly in the concentration of a cleaved APP amyloid beta protein fragment in the cerebrospinal fluid.


Extra-abdominal umbilical vein varix

description: Focal dilatation of the extra-abdominal portion of the umbilical vein. An extra-abdominal umbilical varix is difficult to diagnose prenatally as it can appear like a cyst on ultrasound prior to birth.


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.


Impaired fasting glucose

description: Impaired fasting glucose (IFG) is indicated by a fasting plasma glucose above normal but below the diabetic range. Levels between 110 mg/dl (6.1 mmol/l) to 125 mg/dl (6.9 mmol/l) are diagnostic of IFG.


Pituitary macroadenoma

description: A pituitary gland adenoma that is larger than 10mm.


Pituitary microadenoma

description: A pituitary adenoma that is less than 10 mm in diameter.


Mucus plug

description: Mucus that is abnormally thick in consistency (ie, inspissated) and plugs the airway is known as a mucus plug. Mucus plugs consist of mucins and cells and can partially or completely obstruct one or more airways and cause serious consequences, including atelectasis and recurrent infection.


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.


Fibrin casts

description: A type of airway casts that consist of plasma components and inflammatory cells.


Mucin casts

description: A type of airway casts that consist of impacted mucus.


Perisylvian FDG hypermetabolism

description: 18F-fluorodeoxyglucose (FDG) positron emission tomography and computed tomography (FDG-PET/CT) evaluates the glucose metabolism of the brain. FDG uptake is interpreted to represent glycolysis. This term therefore represents an abnormally increased FDG uptake (increased glucose metabolism) in the region of the brain that surrounds the Sylvian fissure.


Anhydramnios

description: A complete or near-complete lack of amniotic fluid surrounding a fetus. This finding can be observed sonographically in the third trimesters if the deepest pocket of amniotic fluid is less than or equal to 2 cm.


Distended jugular lymphatic sacs

description: The jugular lymphatic sacs (JLS) are a physiological and temporary part of fetal lymphatic development. They are formed from small buds of lymphatic endothelial cells arising from the internal jugular veins. By 14 weeks gestation they have developed into lymphatic nodes which drain into the systemic circulation. Visibility of JLS on ultrasound past 14 weeks of gestation implies distension and this may be associated with raised nuchal translucency.


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.


Type 2 schizencephaly

description: A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal gray matter that are opposed to each other.


Type 3 schizencephaly

description: A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal gray matter.


Abnormal fetal nasal bone visualization

description: Abnormal appearance or non-visualization (apparent absence) of the nasal bone of a fetus in first trimester sonographic screening. Assessment of the fetal nasal bone is generally performed at 11-14 weeks gestational age.


Absent fetal nasal bone

description: The nasal bone is considered absent when it is not visualized on a midsagittal view of the profile. In the second trimester, a true midsagittal view of the fetal profile is obtained and magnified to fill the majority of the image space. The nasal bone appears as an echogenic linear structure below the skin edge. The optimal angle of insonation is 45 degrees to the longitudinal axis of the fetal nasal bone. If the angle of insonation is 0 or 180 degrees, the nasal bone may appear artificially absent. The presence or absence of the nasal bone may be determined at the time of the 11- to 14-week ultrasound examination and used as part of the risk assessment for aneuploidy.


Hypoplastic nasal bone

description: Length of the nasal bone below a predetermined cut-off as seen on antenatal ultrasound using standard imaging techniques.


Early young adult onset

description: Onset of disease at an age of greater than or equal to 16 to under 19 years.


Intermediate young adult onset

description: Onset of disease at an age of greater than or equal to 19 to under 25 years.


Late young adult onset

description: Onset of disease at an age of greater than or equal to 25 to under 40 years.


Convergence-retraction nystagmus

description: Convergence-retraction nystagmus is an irregular, jerky nystagmus in which both eyeballs rhythmically converge and retract into the orbit, particularly on attempting an upward gaze.


Spontaneous chorioamniotic separation

description: Persistence separation of the chorionic and amnionic membranes after the 16th week of gestation (not as a result of a procedure such as amniocentesis).


Neurite dystrophy

description: Dystrophic neurites are abnormal neuronal processes characterized microscopically by aberrant sprouting, dystrophic expansion, and accumulation of various cellular organelles and cytoskeletal/signaling proteins.


Cerebral cortical microinfarct

description: An infarct located on the outer layer of the cerebrum that can only be observed microscopically. Cerebral microinfarcts are typically defined as sharply delimited microscopic regions of cellular death or tissue necrosis, sometimes with cavitation (that is, a central fluid-filled cavity). The term microscopic denotes that these lesions are not visible by gross inspection of the brain but seen by light microscopy. The term infarct is most commonly used for ischemia-related tissue loss, and indeed the pathologic appearance of microinfarcts is consistent with that of known ischemic infarctions.


name: Abnormal umbilical artery doppler waveform during pregnancy

description: Abnormal waveforms the Doppler sonographic examination of bloodflow in the umbilical artery. vUmbilical arterial Doppler assessment is used in surveillance of fetal health in the third trimester.


Fetal anemia

description: Low hemoglobin/hematocrit in a fetus as evidenced by percutaneous umbilical cord sampling and Doppler ultrasonographic assessment of the peak velocity of systolic blood flow in the middle cerebral artery.


name: Skeletal muscle autophagosome accumulation

description: Abnormal accumulation of autophagosomes in skeletal muscle tissue.


Skeletal muscle hyperechogenicity

description: An increased echo intensity of muscle tissue on sonography, defined as an increased amount of returning echoes per square area of muscle tissue. On cross-section, normal muscle appears as a relatively anechoic structure with hyperechoic speckles within the tissue representing perimysial septa, giving it a starry night appearance. The boundaries of each muscle are delineated by the presence of hyperechoic fascia. In muscle disorders, one of the hallmark findings is replacement of healthy muscle with fat and fibrosis, manifested by an increase in echogenicity from higher sound transitions in the muscle. This increase in echogenicity is most distinct in conditions that lead to chronic pathology, such as long-standing muscle inflammation, dystrophy, or denervation.


Maternal vascular malperfusion

description: Gross findings of maternal vascular malperfusion include placental hypoplasia, placental infarction, and retroplacental hemorrhage. If information is available, it is preferable to annotate using the HPO terms that corresponding to the specific abnormalities.


Limited horizontal extraocular movement

description: Limited mobility of the eye to move from side to side (horizontally) within its socket.


Limited vertical extraocular movement

description: Limited mobility of the eye to move up and down (vertically) within its socket.


Abnormal fetal skin morphology

description: Any structural anomaly of the skin of the fetus or newborn. 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.


Caseous vernix-like desquamation

description: Vernix caseosa is a physiological, viscous biofilm that is produced by desquamated fetal skin and sebaceous glands covering the fetus at the third trimester in-utero. The substance's gross morphology in post-partum is described by the etymology, as vernix means varnish, and caseosa means cheesy-like matter. This finding refers to an abnormally thick and greasy vernix caseosa-like scale present at birth.


name: Type 1 congenital pulmonary airway malformation

description: A type of congenital pulmonary airway malformation that is characterized by multiple large cysts or a single dominant cyst.


name: Type 2 congenital pulmonary airway malformation

description: A type of congenital pulmonary airway malformation that is characterized by multiple evenly spaced cysts (sponge-like appearance).


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.


Periventricular pseudocyst

description: Pseudocysts that lack an epithelial lining, PVPCs are frequently observed in the caudothalamic groove or in the infero-lateral aspect of the frontal horns of the lateral ventricles, but may also be located elsewhere along the periventricular germinal matrix, as in the temporal or occipital horns.


Fetal vascular malperfusion

description: The term fetal vascular malperfusion (FVM) is used to describe placental pathology that is throught to result from an obstruction in fetal blood flow that could result from a number of conditions (eg, umbilical cord lesions, hypercoagulability, complications of fetal cardiac dysfunction, such as hypoxia, etc.).


Foramen ovale aneurysm

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


name: EMG: repetitive nerve stimulation abnormality

description: Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz.


Nocturnal lagophthalmos

description: The inability to close the eyelids during sleep.


Single fiber EMG abnormality

description: Abnormality in single fiber EMG recording, a technique that allows identification of action potentials (APs) from individual muscle fibers.


EMG: positive sharp waves

description: These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform.


Cervical agenesis

description: Congenital absence of the uterine cervix.


Hydrometrocolpos

description: Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina.


name: Abnormal female reproductive system physiology


Female sexual dysfunction

description: A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity


Decreased female libido

description: Diminished sexual desire in female.


Increased female libido

description: Elevated sexual desire in female


Auricular tag

description: Small protrusion within the pinna.


Question mark ear

description: Cleft between the helix and the lobe.


Quelprud nodule

description: Small cartilaginous prominence on the posterior concha.


Pretragal ectopia

description: Variably shaped, cartilage-containing tissue anterior to the external auditory meatus.


Auricular pit

description: Small indentation in the lower part of the ascending helix, concha, or in the crus helix.


Squared superior portion of helix

description: Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual.


Abnormal nasal cartilage morphology

description: A morphological anomaly of the nasal cartilage.


Absent nasal cartilage

description: Lack of a palpable nasal cartilage.


Splayed fingers

description: Divergence of digits along the A/P axis (in the plane of the palm).


Absent ray

description: The absence of all phalanges of a digit and the associated metacarpal /metatarsal.


Small toe

description: Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual.


Partial absence of foot

description: An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals.


Small finger

description: Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual.


name: Glomerular basement membrane lamellation

description: Presence of abnormal additional layers of the basement membrane of the glomerulus.


Struvite nephrolithiasis

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


Isothenuria

description: Inability of the kidneys to produce either concentrated or dilute urine.


Bifid ureter

description: Incomplete duplication of the ureter.


Fused thoracic vertebrae

description: A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another.


Fused lumbar vertebrae

description: A congenital anomaly characterized by a joining (fusion) of two or more lumbar vertebral bodies with one another.


Schmorl's node

description: A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra.


Incomplete ossification of pubis

description: Failure to complete ossification (maturation and calcification) of the pubic bone.


Hip subluxation

description: A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket.


Flexion contracture of digit

description: A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.


Serpentine fibula

description: Elongated curved (S-shaped) fibulae.


Hypoglycosylation of alpha-dystroglycan

description: A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue.


Abnormal lateral ventricle morphology

description: A morphological anomaly of the lateral ventricle.


Brain abscess

description: A collection of pus, immune cells, and other material in the brain.


Tip-toe gait

description: An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.


Inguinal freckling

description: The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.


Stiff skin

description: An induration (hardening) of the skin


Perifollicular fibrosis

description: Presence of excess fibrous connective tissue surrounding hair follicules.


Hyperconvex toenail

description: When viewed on end (with the tip of the toe pointing toward the examiner's eye) the curve of the toenail forms a tighter curve of convexity.


Uncombable hair

description: Hair that is disorderly, stands out from the scalp, and cannot be combed flat.


Autoimmune antibody positivity

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


Sickled erythrocytes

description: An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains).


Mitochondrial depletion

description: An abnormal reduction in mitochondrial DNA content of cells.


Nervous tissue neoplasm

description: A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system).


name: Punctate periventricular T2 hyperintense foci

description: Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter.


Abnormal drinking behavior

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


Salt craving

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


Clinodactyly

description: An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).


Abnormal CSF lactate concentration

description: Abnormal concentration of lactate in the cerebrospinal fluid.


Reduced CSF lactate

description: Decreased concentration of lactate in the cerebrospinal fluid.


name: Abnormal circulating testosterone concentration

description: An anomalous concentration of testosterone in the blood.


Increased serum testosterone level

description: An elevated circulating testosterone level in the blood.


name: Abnormal muscle fiber protein expression

description: An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue.


name: Abnormal muscle fiber merosin expression

description: An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve.


Absent muscle fiber merosin

description: Lack of merosin protein in the muscle biopsy.


Reduced muscle fiber merosin

description: A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue.


Abnormal muscle fiber laminin beta 1

description: A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1.


Reduced muscle fiber laminin beta 1

description: A reduced amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1.


Reduced muscle collagen VI

description: A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle.


name: Abnormal muscle fiber dystrophin expression

description: A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina.


Absent muscle dystrophin expression

description: Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy.


Reduced muscle dystrophin expression

description: A decreased amount of dystrophin in muscle fiber tissue.


Reduced muscle fiber alpha dystroglycan

description: Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly.


Abnormal muscle fiber alpha sarcoglycan

description: Deviation from normal in the amount of alpha sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.


Absent muscle fiber alpha sarcoglycan

description: Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy.


Reduced muscle fiber alpha sarcoglycan

description: A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy.


Abnormal muscle fiber beta sarcoglycan

description: Deviation from normal in the amount of beta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.


Abnormal muscle fiber gamma sarcoglycan

description: Deviation from normal in the amount of gamma sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.


Abnormal muscle fiber delta sarcoglycan

description: Deviation from normal in the amount of delta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.


Absent muscle fiber beta sarcoglycan

description: Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy.


Reduced muscle fiber beta sarcoglycan

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


Reduced muscle fiber gamma sarcoglycan

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


Absent muscle fiber gamma sarcoglycan

description: Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy.


Absent muscle fiber delta sarcoglycan

description: Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy.


Reduced muscle fiber delta sarcoglycan

description: Abnormally reduced amount of delta sarcoglycan in muscle.


name: Abnormal muscle fiber alpha dystroglycan

description: A deviation from normal of muscle alpha-dystroglcan expression. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly.


Abnormal muscle fiber dysferlin

description: A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-kDa transmembrane protein involved in calcium-mediated sarcolemma resealing.


Absent muscle fiber dysferlin

description: Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy.


Reduced muscle fiber dysferlin

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


Abnormal muscle fiber emerin

description: A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue.


Absent muscle fiber emerin

description: Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy.


Reduced muscle fiber emerin

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


Abnormal muscle fiber calpain-3

description: A deviation from normal in the amount of calpain-3 in muscle tissue. Calpains are intracellular nonlysosomal cysteine proteases modulated by calcium ions. A typical calpain is a heterodimer composed of two distinct subunits, one large (over 80 kDa) and the other small (30 kDa). While only one gene encoding the small subunit has been demonstrated, there are many genes for the large one. CAPN3 is similar to ubiquitous Calpain 1 and 2 (m-calpain and micro-calpain), but contains specific insertion sequences (NS, IS1 and IS2). Calpains cleave target proteins to modify their properties, rather than breaking down the substrates.


Absent muscle fiber calpain-3

description: Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue.


Reduced muscle fiber calpain-3

description: Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue.


Reduced muscle fiber perlecan

description: Immunohistochemistry reveals reduced perlecan protein in the muscle biopsy. Perlecan is a basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) also known as heparan sulfate proteoglycan 2 (HSPG2).


Abnormal muscle fiber lamin A/C

description: A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation.


Reduced muscle fiber lamin A/C

description: A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry or Western blotting of muscle tissue.


name: Sacralization of the fifth lumbar vertebra

description: A congenital anomaly, in which the transverse process of the last lumbar vertebra (L5) fuses to the sacrum on one side or both, or to ilium, or both.


Abnormal endometrium morphology

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


name: Impaired ristocetin cofactor assay activity

description: Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma.


name: Impaired von Willebrand factor collagen binding activity

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


name: Abnormal von Willebrand factor multimer distribution

description: Deviation from the normal von Willebrand factor multimer pattern.


name: Absence of large von Willebrand factor multimers

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


name: Abnormal presence of ultra-large von Willebrand factor multimers

description: Detection of abnormal ultra-large von Willebrand factor multimers.


name: Total absence von Willebrand factor multimers

description: Complete absence of all von Willebrand factor multimers.


name: Absence of intermediate von Willebrand factor multimers

description: Lack of intermediate von Willebrand Factor multimers on gel electrophoresis.


name: Enhanced ristocetin cofactor assay activity

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


name: Prolonged bleeding following circumcision

description: Bleeding that persists for a longer than usual time following circumcision.


name: Excessive bleeding from superficial cuts

description: An abnormally increased degree of bleeding following a superfical injury to the surface of the skin.


Excessive bleeding after a venipuncture

description: An abnormal high amount of bleeding following the procedure of taking a blood sample.


Oral cavity bleeding

description: Recurrent or excessive bleeding from the mouth.


Abnormality of the posterior hairline

description: An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair.


Abnormal bowel sounds

description: An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis.


Hyperactive bowel sounds

description: Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines.


Hypoactive bowel sounds

description: An decreased amount of bowel sounds.


Lack of bowel sounds

description: Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope.


Abnormal liver parenchyma morphology

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


Truncal titubation

description: Tremor of the trunk in an anterior-posterior plane at 3-4 Hz.


Heart murmur

description: An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart.


Plasmacytosis

description: An abnormally increased number of plasma cells in tissues, exudates, or blood


Gallbladder perforation

description: Rupture of the wall of the gallbladder.


Scrotal pain

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


Bence Jones Proteinuria

description: The presence of free monoclonal immunoglobulin light chains in the urine.


Flank pain

description: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank.


Vaginal pruritus

description: A sensation of itching in the vagina.


Glomerulomegaly

description: Abnormally large size of glomeruli.


Abnormal vascular physiology

description: Abnormality of vascular function.


Jaw claudication

description: Pain in the jaw or ear induced by chewing or otherwise moving the jaw.


Temporal artery tortuosity

description: The presence of an increased number of twists and turns of the temporal artery.


Night sweats

description: Occurrence of excessive sweating during sleep.


Antimitochondrial antibody positivity

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


Dilated superficial abdominal veins

description: Increase in diameter of the veins located underneath the skin of the abdomen.


Gastric varix

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


Cystic artery pseudoaneurysm

description: Presence of a pseudoaneurysm in the artery that supplies the gallbladder and cystic duct with blood. A pseudoaneurysm, also known as a false aneurysm, forms when blood leaks through a breach of the arterial wall but is contained by the adventitia or surrounding perivascular soft tissue.


Perirenal hematoma

description: A collection of clotted blood surrounding the kidney.


Peripheral amyelination

description: Congenital absence of the myelin sheath on a nerve.


Peripheral hypermyelination

description: Increased amount of peripheral myelination.


Increased peripheral myelin thickness

description: Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion.


Myelin tomacula

description: The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage).


Asymmetric peripheral demyelination

description: Loss of myelin from peripheral nerves in a pattern that differs between right and left.


name: Abnormality of peripheral nervous system electrophysiology

description: An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles.


name: Abnormality of central nervous system electrophysiology


name: Abnormal peripheral action potential amplitude

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


Oppenheim reflex

description: Dorsiflexion of the big toe, sometimes accompanied by fanning of the other toes, elicited by stroking along the medial side of the tibia (the normal response would be no movement of the big toe).


Gordon reflex

description: Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe).


Tetraplegia/tetraparesis

description: Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength.


name: Impaired visually enhanced vestibulo-ocular reflex

description: The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR).


Isometric tremor

description: An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist).


Titubation

description: Nodding movement of the head or body.


Tremor by anatomical site

description: Tremor classified by the affected body part.


Oral motor hypotonia

description: Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior.


name: Abnormal peripheral nervous system synaptic transmission

description: An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system.


Fatigable weakness of bulbar muscles

description: A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.


Fatigable weakness of chewing muscles

description: A type of weakness of the muscles involved in chewing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.


Fatigable weakness of speech muscles

description: A type of weakness of the muscles involved in speech that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.


name: Fatigable weakness of swallowing muscles

description: A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.


name: Fatigable weakness of respiratory muscles

description: A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.


Fatigable weakness of skeletal muscles

description: A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.


name: Fatigable weakness of distal limb muscles

description: A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.


Fatigable weakness of neck muscles

description: A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.


name: Fatiguable weakness of proximal limb muscles

description: A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.


name: Response to drugs acting on neuromuscular transmission

description: Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis.


name: Favorable response of weakness to acetylcholine esterase inhibitors

description: Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.


name: Unfavorable response of muscle weakness to acetylcholine esterase inhibitors

description: Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.


Increased jitter at single fiber EMG

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


name: EMG: incremental response of compound muscle action potential to repetitive nerve stimulation

description: A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to an abnormal increase in the amplitude during the course of the investigation.


Paradoxical respiration

description: Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing.


name: Anti-acetylcholine receptor antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury.


Calcium channel antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels.


name: Anti-muscle-specific tyrosine kinase antibody

description: The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab).


Slow pupillary light response

description: Reduced velocity and acceleration in the pupillary light response.


Collectionism

description: Excessive or pathological tendency to save and collect possessions.


Emotional blunting

description: Inability to feel positive or negative emotions, feelings of detachment, or reduced emotional responsiveness.


Hypersexuality

description: Pathological persistent sexual disinhibiting behavior, directed towards oneself or others.


Inappropriate crying

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


Inertia

description: Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example).


Limb apraxia

description: Difficulty in performing the correct execution of limbs movements in absence of motor impairment.


Punding

description: Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects.


Semantic dementia

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


Socially inappropriate behavior

description: Behavior that is not in line with social norms.


Sweet craving

description: Excessive desire to eat sweet foods.


Perseverative thought

description: Manifestations of perseverative thoughts are behaviors that do not meet the demands of the situation, are not the product of deliberation, and may unfold despite counter intention.


Abnormal muscle fiber desmin

description: A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-kDa protein.


Accumulation of muscle fiber desmin

description: Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy.


Abnormal muscle fiber myotilin

description: A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kDa cytoskeletal protein.


Accumulation of muscle fiber myotilin

description: Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy.


name: Abnormal muscle fiber valosin-containing protein

description: A deviation from normal in the expression of valosin-containing protein in muscle tissue. Valosin-containing protein is an ubiquitously expressed multifunctional 100-kD protein that is a member of the AAA+ (ATPase associated with various activities) protein family.


name: Accumulation of muscle fiber valosin-containing protein

description: Immunohistochemistry shows accumulation of valosin-containing protein in the muscle biopsy.


Central core regions in muscle fibers

description: The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric.


name: Glycogen accumulation in muscle fiber lysosomes

description: An increased amount of glycogen in muscle tissue found specifically in lysosomes.


Increased sarcoplasmic glycogen

description: Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers.


Bethlem sign

description: Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures.


Highly elevated creatine kinase

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


Extremely elevated creatine kinase

description: An increased creatine kinase level more than 50X above the upper normal level.


Abnormality of muscle size

description: Abnormalities of the overall muscle bulk based on clinical observation.


Hand muscle weakness

description: Reduced strength of the musculature of the hand.


Hypoplasia of the upper arm musculature

description: Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis.


Hypoplasia of deltoid muscle

description: Underdevelopment of the deltoid muscle.


Maternal fever in pregnancy

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


Intrapartum fever

description: The occurence of maternal fever during labor.


Maternal first trimester fever

description: The occurence of fever in a mother during the first trimester of pregnancy.


Splanchnic vein thrombosis

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


Mesenteric venous thrombosis

description: A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine).


Enanthema

description: A sudden eruption (rash) of the surface of a mucous membrane of the mouth or pharynx.


Pulmonary granulomatosis

description: The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the lung.


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.


Absent circulating B cells

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


Defective T cell proliferation

description: A reduced ability of a T cell population to expand by cell division following T cell activation.


Nail bed hemorrhage

description: Small areas of bleeding (hemorrhage) under the fingernail or toenail.


Large intestinal polyposis

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


Small intestinal polyposis

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


Freckled genitalia

description: One or more brown punctate macules on the skin of the genitalia.


Hyperpigmented genitalia

description: Localized or generalized increased genital pigmentation.


Hypopigmented genitalia

description: Localized or generalized decreased genital pigmentation.


Microphallus

description: Length of penis more than 2 SD below the mean for age accompanied by hypospadias.


Narrow penis

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


Torsion of the penis

description: Rotated position of the glans, with or without the penile shaft, of 30 degrees or more.


Webbed penis

description: Ventral skinfold extending from penis to scrotum.


Wide penis

description: Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age.


name: Calcification of the interosseus membrane of the forearm

description: Deposition of calcium salts in the fibrous sheet that connects the radius and the ulna.


Hyperplastic callus formation

description: Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing.


name: Increased circulating insulin-like growth factor 1 concentration

description: An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation.


name: Elevated red cell adenosine deaminase activity

description: Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.


name: Reduced erythrocyte 2,3-diphosphoglycerate concentration

description: This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation.


name: Abnormal erythrocyte enzyme concentration or activity

description: An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme.


name: Reduced red cell adenosine deaminase level

description: Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.


Accessory scrotum

description: Additional scrotum, or part of a scrotum in an abnormal location.


Ectopic scrotum

description: Scrotum in a position other than the usual position inferior to the base of the penis.


Abnormal vertebral pedicle morphology

description: Abnormal morphology of a vertebral pedical.


Hypoplastic vertebral pedicle

description: Underdeveloped vertebral pedicle.


Hypoplastic L5 vertebral pedicle

description: Underdeveloped pedicle of the fifth lumbar vertebra.


Rib gap

description: Radiolucent focal defect of a rib shaft.


Cervical C3/C4 vertebral fusion

description: Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development.


Posterior rib gap

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


name: Partial absence of the septum pellucidum

description: Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain.


Triangular tongue

description: A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle.


Splayed superior cerebellar peduncle

description: Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle.


Atrophic superior cerebellar peduncle

description: Atrophy of the superior cerebellar peduncle.


Flattened femoral epiphysis

description: An abnormal flattening of an epiphysis of femur.


Unossified sacrum

description: Lack of ossification of the sacrum.


Lower-limb metaphyseal irregularity

description: Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg.


Tibial metaphyseal irregularity

description: Irregularity of the normally smooth surface of a metaphysis of a tibia.


Fibular metaphyseal irregularity

description: Irregularity of the normally smooth surface of a metaphysis of a fibula.


name: Abnormal distal femoral metaphysis morphology

description: An anomaly of the metaphysis of the distal femur (close to the knee).


10 pairs of ribs

description: Presence of only 10 (instead of the usual 12) pairs of ribs.


Abnormality of the anterior commissure

description: An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts.


Agenesis of the anterior commissure

description: Absence of the anterior commissure.


Hypoplastic anterior commissure

description: Underdevelopment of the anterior commissure.


Abnormal number of vertebrae

description: A deviation from the normal number of vertebrae in the spinal column.


11 thoracic vertebrae

description: The presence of 11 instead of the normal 12 thoracic vertebrae.


Flared lower limb metaphysis

description: The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg.


Flared distal tibial metaphysis

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


Flared distal fibular metaphysis

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


Upper extremity joint dislocation

description: Displacement or malalignment of one or more joints in the upper extremity (arm).


Lower extremity joint dislocation

description: Displacement or malalignment of one or more joints in the lower extremity (leg).


Obliteration of the calvarial diploe

description: Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe).


Abnormal periosteum morphology

description: An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones.


Periostosis

description: Abnormal deposition of periosteal bone.


Angular cheilitis

description: A type of inflammation of the lips involving one or both of the corners of the mouth.


Weakness of facial musculature

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


Increased intervertebral space

description: An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disk space.


Abnormal vertebral artery morphology

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


Vertebral artery hypoplasia

description: Underdevelopment of the vertebral artery.


Unilateral vertebral artery hypoplasia

description: Underdevelopment of the vertebral artery on one side.


Bilateral vertebral artery hypoplasia

description: Underdevelopment of the vertebral artery on both sides.


Cervicomedullary schisis

description: Fissure within the spinal cord of the neck.


Abnormal macrophage count

description: An anomaly in the number of macrophages.


Abnormal osteoclast count

description: An anomaly in the number of osteoclasts in bone tissue, bone-resorbing cells that develop from macrophages. This finding can be observed by histological examination of bone tissue.


Decreased osteoclast count

description: Decreased number of osteoclasts in bone tissue.


Retinal thinning

description: Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT).


name: Multinucleated giant chondrocytes in epiphyseal cartilage

description: The presence of cartilage cells (chondrocytes) that are substantially increased in size and contain more than one nucleus and are located within the resting zone of the epiphyseal cartilage.


name: Impaired stimulus-induced skin wrinkling

description: A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth).


Abnormal alpha-beta T cell morphology

description: A structuraly anomaly of T cells that express an alpha-beta T cell receptor.


name: Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology

description: A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells.


name: Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count

description: A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells.


name: Absence of CD4-positive, CD25-positive regulatory T cells

description: Lack of CD4+CD25+ T regulatory cells.


name: Elevated CD4-positive, CD25-positive regulatory T cell count

description: An increased number of CD4-positive, CD25-positive regulatory T cells.


name: Abnormal circulating gonadotropin concentration

description: An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).


name: Decreased circulating gonadotropin concentration

description: A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).


name: Decreased circulating follicle stimulating hormone concentration

description: A reduction of the circulating level of follicle-stimulating hormone (FSH).


name: Decreased circulating luteinizing hormone level

description: A reduction in the circulating level of luteinizing hormone (LH).


name: Abnormal circulating luteinizing hormone concentration

description: An anomaly of the circulating level of luteinizing hormone (LH).


name: Abnormal circulating follicle-stimulating hormone concentration

description: An anomaly of the circulating level of follicle-stimulating hormone (FSH).


Abnormal circulating androgen level

description: An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.


name: Increased circulating androgen concentration

description: An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.


name: Decreased circulating androgen concentration

description: A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.


Erythematous papule

description: A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color.


Urticarial plaque

description: A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter.


name: Abnormal serum insulin-like growth factor 1 level

description: An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation.


name: Decreased serum insulin-like growth factor 1

description: A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation.


name: Abnormal circulating interferon-gamma concentration

description: Abnormal levels of interferon gamma measured in the blood circulation.


name: Increased circulating interferon-gamma concentration

description: An elevation in the concentration of interferon gamma measured in the blood circulation.


name: Abnormal circulating eicosanoid concentration

description: Any deviation from the normal concentration in the blood circulation of an icosanoid (also known as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid).


Reduced muscle carnitine level

description: A reduction in the level of carnitine in muscle tissue.


Primary Caesarian section

description: Delivery by Caesarian section representing the first time the mother has delivered by Caesarian section.


Secondary Caesarian section

description: Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth.


Vaginal birth after Caesarian

description: Vaginal birth after Caesarian (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally.


Delivery by Odon device

description: The Odon device is an instrument for assisted vaginal deliveries that is applied on the head of the baby and used to apply traction to assist the birth process.


Finger hyperphalangy

description: Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a digit. That is, there is an accessory phalanx that is arranged linearly with the other phalanges.