Hyperphalangy of the 2nd finger

description: An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy.


Induced vaginal delivery

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

description: Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own.


Abnormal proportion of naive B cells

description: A deviation in the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to the total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.


Increased proportion of naive B cells

description: An elevation above the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.


Decreased proportion of naive B cells

description: A reduction below normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.


Abnormal proportion of memory B cells

description: A deviation of the normal proportion of memory B cells in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).


Decreased proportion of memory B cells

description: A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).


Increased proportion of memory B cells

description: An elevation in the proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).


Abnormal proportion of immature B cells

description: A deviation from normal proportion of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).


name: Increased proportion of immature B cells

description: An elevation in the proportion above normal of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).


name: Decreased proportion of immature B cells

description: A reduction in normal proportion of immature B cells (CD19+/ CD21low)in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).


name: Abnormal proportion of transitional B cells

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


name: Decreased proportion of transitional B cells

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


name: Increased proportion of transitional B cells

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


name: Abnormal proportion of marginal zone B cells

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


name: Decreased proportion of marginal zone B cells

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


name: Increased proportion of marginal zone B cells

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


name: Abnormal proportion of class-switched memory B cells

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


name: Increased proportion of class-switched memory B cells

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


name: Decreased proportion of class-switched memory B cells

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


name: Abnormal circulating thromboxane concentration

description: Any deviation from the normal concentration in the blood circulation of a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels.


name: Reduced circulating leukotriene C4 concentration

description: An abnormally decreased concentration of leukotriene C4 in the blood circulation.


Spoken word recognition deficit

description: Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus.


Abnormal platelet granule secretion

description: Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion.


name: Abnormal platelet dense granule secretion

description: Abnormal release of dense granules from platelets.


name: Abnormal platelet ATP dense granule secretion

description: Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP).


name: Abnormal platelet alpha granule secretion

description: Abnormal release of alpha granule contents from platelets.


Abnormal platelet lysosome secretion

description: Abnormal release of lysosome contents from platelets.


name: Abnormal platelet dense granule ATP/ADP ratio

description: Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets.


Abnormal platelet aggregation

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


Ileal adenocarcinoma

description: A malignant epithelial tumor with a glandular organization that originates in the ileum.


Verrucous cell carcinoma of the tongue

description: A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance.


Sarcomatoid carcinoma of the tongue

description: Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation.


Splenic cyst

description: A closed sac located in the spleen.


Calcified ovarian cyst

description: A cyst of the ovary that exhibits deposition of calcium salts.


Ossifying fibroma of the jaw

description: A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed.


Cutaneous myxoma

description: A myxoma originating in the skin.


Osteochondroma

description: A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone.


Fibrofolliculoma

description: Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation.


Anal margin neoplasm

description: A tumor of the anal margin.


Anal margin melanoma

description: A melanoma that originates in the anal margin.


Therapeutic abortion

description: Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother's life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice.


Mesenteric cyst

description: A closed fluid filled sac originating from the mesentary.


Chylolymphatic mesenteric cyst

description: A type of mesenteric cyst that is lined with a thin endothelium or mesothelium and filled with chylous and lymphatic fluid.


Abnormal electrooculogram

description: The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation.


name: Abnormality of pattern visual evoked potentials


name: Abnormality of pattern onset/offset visual evoked potentials


name: Abnormal amplitude of pattern onset/offset visual evoked potentials


name: Abnormal timing of pattern onset/offset visual evoked potentials


name: Abnormal timing of pattern reversal visual evoked potentials


name: Abnormal timing of flash visual evoked potentials


name: Abnormal amplitude of flash visual evoked potentials


name: Asymmetrical distribution of flash visual evoked potentials


name: Asymmetrical distribution of pattern reversal visual evoked potentials


description: No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells.


Abnormal pattern electroretinogram

description: An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light.


name: Abnormal dark-adapted bright flash electroretinogram


name: Abnormal dark-adapted dim flash electroretinogram


name: Abnormal light-adapted single flash electroretinogram


name: Abnormal light-adapted flicker electroretinogram


name: Abnormal timing of dark-adapted dim flash electroretinogram


name: Abnormal amplitude of dark-adapted dim flash electroretinogram


name: Abnormal timing of dark-adapted bright flash electroretinogram


name: Abnormal amplitude of dark-adapted bright flash electroretinogram


name: Abnormal amplitude of light-adapted flicker electroretinogram


name: Abnormal timing of light-adapted flicker electroretinogram


name: Abnormal amplitude of light-adapted single flash electroretinogram


name: Abnormal timing of light-adapted single flash electroretinogram


name: Reduced amplitude of dark-adapted bright flash electroretinogram a-wave

description: An abnormal reduction in the amplitude of the a-wave.


name: Supernormal dark-adapted bright flash electroretinogram b-wave


name: Abnormal amplitude of pattern electroretinogram


name: Abnormal timing of pattern electroretinogram


name: Abnormal P50/N95 ratio of pattern electroretinogram


name: Abnormal central response of multifocal electroretinogram


name: Abnormal paracentral response of multifocal electroretinogram


Choriocapillaris atrophy

description: Atrophy of the capillary lamina of choroid.


Abnormality of foveal pigmentation

description: An anomaly of the pigmentation in the fovea centralis.


Macular microaneurysm/hemorrhage

description: Small, red dots in the superficial retinal layers (it is difficult to distinguish between small hemorrhages and microaneurysms).


name: Abnormality morphology of the macular vasculature

description: Any structural anomaly of the blood vessels of the macula.


Macular exudate

description: Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature.


Macular cotton wool spot

description: Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fiber layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels.


Macular thickening

description: Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging.


Macular drusen

description: Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. This class refers to the presence of Drusen in the macula.


Macular crystals

description: Crystalline deposits in the macula.


name: Grouped congenital hypertrophy of retinal pigment epithelium


Nummular pigmentation of the fundus

description: Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium.


Retinal crystals

description: Crystalline deposits in the retina.


name: Difficulty adjusting to changes in luminance


Moderately reduced visual acuity

description: Moderate reduction of the ability to see. On the 6m visual acuity scale, moderate reduction is defined as less than 6/18 but at least 6/60. On the 20ft visual acuity scale, moderate reduction is defined as less than 20/70 but at least 20/200. On the decimal visual acuity scale, moderate reduction is defined as less than 0.3 but at least 0.1.


name: Mild constriction of peripheral visual field

description: A diminution of the peripheral visual field whereby at least 50 degrees of central field are preserved in all meridians.


name: Moderate constriction of peripheral visual field

description: Peripheral visual field constriction with 20-49 degrees binocular visual field preserved.


name: Severe constriction of peripheral visual field

description: Peripheral visual field constriction with 10-19 degrees central field preserved.


name: Very severe constriction of peripheral visual field

description: Peripheral visual field constriction with <10 degrees central field preserved.


Ring scotoma

description: An annular field defect centered on fixation.


name: Abnormal best corrected visual acuity test


name: Visual acuity light perception with projection


name: Visual acuity light perception without projection


Abnormal visual field test

description: Abnormal result of a test designed to test an individual's central and peripheral vision by determining the ability of the individual to perceive objects at differing locations of the visual field.


name: Abnormal confrontational visual field test


name: Abnormal automated kinetic perimetry test


name: Abnormal static automated perimetry test


name: Abnormal Humphrey SITA 30-2 perimetry test


name: Abnormal Humphrey SITA 24-2 perimetry test


name: Abnormal Humphrey SITA 10-2 perimetry test


Abnormal Esterman grid perimetry test

description: The Esterman grid test assays scores visual acuity. The grid consists of 100 units whose unequal size and distribution reflect the unequal functional value of different parts of the field-in effect a weighted or relative-value scale. Because each unit equals 1 percent, a simple count of units yields the functional score in percent.


name: Abnormal fundus autofluorescence imaging

description: Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Autofluorescent patterns result from the complex interaction of fluorophores such a lipofuscin, which release an autofluorescent signal, and elements such as melanin and rhodopsin, which absorb the excitation beam and attenuate autofluorescence. Other structures such as retinal vessels and the crystalline lens may also influence autofluorescence through blocking and interference.


Abnormal fundus fluorescein angiography

description: An abnormality observed by retinal fluorescein angiography, which involves the intravenous injection of fluorescein dye followed by fluorescent imaging of the fundus immediately after injection and for up to ten minutes thereafter. It can be used to study various retinal abnormalities including especially anomalies of the choroidal and retinal circulation.


name: Increased OCT-measured macular thickness


Photoreceptor layer loss on macular OCT

description: Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography.


name: Photoreceptor outer segment loss on macular OCT


name: Retinal pigment epithelial loss on macular OCT


name: Abnormal retinal morphology on macular OCT


name: Abnormal foveal morphology on macular OCT


name: Foveal photoreceptor layer loss on macular OCT


name: Foveal photoreceptor outer segment loss on macular OCT


name: Foveal retinal pigment epithelial loss on macular OCT


name: Foveal inner retinal layer loss on macular OCT


name: Intraretinal hyporeflective spaces on macular OCT


name: Subretinal hyporeflective spaces on macular OCT


name: Foveal intraretinal hyporeflective spaces on macular OCT


name: Foveal hyporeflective spaces on macular OCT


name: Foveal subretinal hyporeflective spaces on macular OCT


name: Perifoveal ring of hyperautofluorescence


name: Irregular central macular autofluorescence


Hyperautofluorescent macular lesion

description: Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.


Hypoautofluorescent macular lesion

description: Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.


name: Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence


name: Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence


Congenital stationary cone dysfunction

description: Retinal phenotype characterized by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, color vision abnormalities, nystagmus and photophobia.


name: Congenital stationary night blindness with normal fundus


name: Congenital stationary night blindness with abnormal fundus


name: Complete congenital stationary night blindness


name: Incomplete congenital stationary night blindness


Vitreous haze

description: Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation.


Umbilical cord cyst

description: Any cystic lesion associated with the umbilical cord.


Umbilical cord knot

description: An entwining of a segment of umbilical cord, usually without obstructing fetal circulation and commonly result from fetal slippage through a loop of the cord.


Umbilical vein varix

description: Focal dilation of the umbilical vein.


Umbilical cord hematoma

description: Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels.


Marginal umbilical cord insertion

description: Insertion of the umbilical cord within 2 cm from the placental edge.


Velamentous cord insertion

description: Insertion of the umbilical cord into the chorio-amniotic membranes of the placenta.


Furcate cord insertion

description: Branching of the umbilical cord before its insertion into the placenta.


Vitreous snowballs

description: Yellow-white inflammatory aggregates in the vitreous that are found in the midvitreous and inferior periphery.


Vitreous inflammatory cells

description: The presence of inflammatory cells such as lymphocytes and macrophages in the vitreous.


Optically empty vitreous

description: Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity.


Beevor's sign

description: Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibers predominate pulling upwards the umbilicus.


Rubral tremor

description: Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements.


Retinal neovascularization

description: In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment.


Peripheral retinal neovascularization

description: A type of retinal neovascularization that affects the periphery of the retina.


Periorbital dermoid cyst

description: A cyst that is localized in the region of the orbit and exhibits an epithelial lining with a keratin-filled lumen. Hair follicles are one of the adnexal structures that are commonly found in walls of dermoid cysts.


Abnormal ocular adnexa morphology

description: A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.


Hamartoma of the orbital region

description: A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region.


name: Abnormal common tendinous ring morphology

description: Any anomaly of the ring of fibrous tissue that surrounds the optic nerve at its entrance at the apex of the orbit. The common tendinous ring, also known as the annulus of Zinn or annular tendon, is the origin for five of the seven extraocular muscles.


Asteroid hyalosis

description: The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits.


Antenatal onset

description: Onset prior to birth.


name: Contracture of proximal interphalangeal joints of 2nd-5th fingers

description: Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd, 3rd, 4th, and 5th fingers due to structural changes in non-bony tissue.


Satyr ear

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


Mozart ear

description: A congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus.


Ash-leaf spot

description: A hypopigmented spot in the shape of a leaf from the mountain ash tree.


name: Abnormal cardiovascular system morphology

description: Any structural anomaly of the heart and blood vessels.


name: Abnormal morphology of myocardial trabeculae

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


Abnormal adiponectin level

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


Decreased adiponectin level

description: A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.


Increased adiponectin level

description: An elevated circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.


Abnormal glucagon level

description: A deviation from the normal concentration of glucagon in the blood circulation.


Increased glucagon level

description: An elevated concentration of glucagon in the blood circulation.


Decreased glucagon level

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


Gingival cleft

description: A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla.


Divergence nystagmus

description: A condition in which both eyes beat outward simultaneously.


Myeloschisis

description: The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane.


Lipomeningocele

description: A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life.


Hydrocolpos

description: Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction.


Subchorionic thrombohematoma

description: A large maternal clot that separates the chorionic plate from the villous chorion.


Bronchial atresia

description: A developmental anomaly characterized by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis.


Meconium peritonitis

description: Peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications.


Right atrial enlargement

description: Increase in size of the right atrium.


Unguarded tricuspid valve

description: A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue.


Subchorionic septal cyst

description: Cyst on the surface of the placenta consisting of amnion and chorion.


Tetraphocomelia

description: Phocomelia involving all four extremities.


Ectopic liver

description: Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter.


Congenital megalourethra

description: Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa.


Neurenteric cyst

description: The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium.


Spinal neurenteric cyst

description: A neurenteric cyst located in the spine.


Intracranial neurenteric cyst

description: A neurenteric cyst located within the skull.


Meromelia

description: Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot.


Frontoethmoidal meningocele

description: A herniation of meninges through a congenital bone defect in the skull at the junction of the frontal and ethmoidal bones.


Parietal meningocele

description: A herniation of meninges through a congenital bone defect in the skull in the parietal region.


Dysplastic tricuspid valve

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


Vesicoallantoic abdominal wall defect

description: An abdominal wall defected related to a developmental anomaly of the allantois, which is an embryonic structure that develops as a diverticulum off the yolk sac at about 16 days post fertilization. During further development, the allantois becomes incorporated into the body of the embryo, connecting the ventral aspect of the urogenital sinus (which will develop into the upper pole of the urinary bladder) to the external portion of the umbilicus. Upon further development, the lumen of the allantois becomes obliterated and forms a thick fibrous cord called the urachus, which connects the apex of the bladder to the umbilicus. In adults, the urachus is known as the median umbilical ligament. Failure of the allantoic cavity to obliterate can result of one of four conditions: 1) congenital patent urachus (a completely open connection between bladder and umbilicus); 2) vesicourachal diverticulum (a diverticulum off the bladder but not communicating with the umbilicus); umbilical cyst and sinus (not communicating with the bladder); and 4) alternating urachal sinus. An abdominal wall defect can be associated with a urachal cyst.


Ureterovesical junction obstruction

description: Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle.


Altman type I sacrococcygeal teratoma

description: A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks.


Altman type II sacrococcygeal teratoma

description: A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component.


Altman type III sacrococcygeal teratoma

description: A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass.


name: Anomalous muscle bundle of the right ventricle

description: An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract.


Glial remnants posterior to lens

description: This anomaly, also known as Mittendorf dot, is a benign, nonprogressive recognizable lesion that does not cause visual impairment. However, it can resemble a pathological congenital or acquired cataract lesion which may enlarge and cause visual impairment. The dot appears as a black speck that ranges in size from the dot made by a sharp pencil point to the size of a poppy seed. It is usually well defined, although occasionally there may be irregular, fine lines radiating outward from the dot.


name: Glial remnants anterior to the optic disc

description: Persistence of a posterior remnant of the hyaloid artery located at the optic disc.


name: Hyaloid vascular remnant and retrolental mass

description: A type of persistence of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract.


Dilatation of the ductus arteriosus

description: Ductus arteriosus aneurysm (DAA) is a saccular dilatation of the ductus arteriosus. DAA can be either congenital or acquired (e.g. as a complication of surgical closure of a patent ductus arteriosus). Although the majority of patients with congenital DAA are asymptomatic and have a benign course, severe complications, such as rupture or thromboembolism, can occur. DAA is likely to emerge in the third trimester from the aortic junction of the DA, extending towards its pulmonary end.


Intraventricular hemorrhage

description: Bleeding into the ventricles of the brain.


Preterm intraventricular hemorrhage

description: Intraventricular hemorrhage that occurs in a premature infant.


name: Grade I preterm intraventricular hemorrhage

description: Intraventricular hemorrhage that occurs in a preterm infant and that is restricted to subependymal region/germline matrix which is seen in the caudothalamic groove.


name: Grade II preterm intraventricular hemorrhage

description: Intraventricular hemorrhage that occurs in a preterm infant and that has extension into normal-sized ventricles and typically fills less than 50% of the volume of the ventricle.


name: Grade III preterm intraventricular hemorrhage

description: Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles.


name: Grade IV preterm intraventricular hemorrhage

description: Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension.


name: Intrauterine fetal demise of one twin after midgestation

description: Loss of one twin occurring after midgestation (17 weeks gestation).


Allantoic cyst

description: A swelling formed at the base of umbilicus associated with a patent urachus which results from an allantoic remnant. The urachus is a fibrous remnant of the allantois which communicates from the apex of the urinary bladder to the umbilicus. Failed obliteration of the urachus can lead to various abnormalities: urachal cyst, urachal diverticulum, sinus or patent urachus - the most common type. Allantoic cysts in infants with patent urachus can be formed due to the drainage of urine into the umbilical cord, or in uncommon situations, after leakage of hypo-osmotic urine into the Wharton's jelly.


Craniofacial teratoma

description: A teratoma located in the craniofacial region.


Erythrodontia

description: Reddish, brown opalescent discoloration of teeth in normal light.


Periapical tooth abscess

description: A tooth abscess that occurs at the tip of the root (apex) of a tooth.


Adipocyte hypertrophy

description: An increase in mean adipocyte cell size. This feature can be measured by determining the average cell diameter of adipocytes microscopically using abdominal subcutaneous adipose tissue obtained by biopsy.


Mesangiolysis

description: Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain.


Amniotic Sheet

description: A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion.


Sleep terror

description: Episodes of intense fear, screaming, and flailing occur even though the affected individuals are still asleep.


Ear pain

description: Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia).


Exencephaly

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


Mallet finger

description: Mallet finger refers to a condition in which the end joint of a finger bends but will not straighten by itself. In this situation, the joint can be pushed straight but will not hold that position on its own.


Proximal femoral focal deficiency

description: Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb.


Mitochondrial swelling

description: The mitochondrial matrix refers to the substance occupying the space enclosed by the inner membrane of a mitochondrion, which contains enzymes, DNA, granules, and inclusions of protein crystals, glycogen, and lipid. Mitochondrial swelling refers to an increase in size of the mitochondrial matrix. This phenomenon is thought to be related to a permeabilized inner membrane that originates a large swelling in the mitochondrial matrix. Mitochondrial swelling may distend the outer membrane until it ruptures.


Modic type vertebral endplate changes

description: An abnormal magnetic resonance tomography signal from a vertebral endplate according to a widely used classification published by Dr. Michael Modic.


Modic type I vertebral endplate changes

description: An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1-weighted sequences and high signal on T2-weighted sequences. Modic type I changes are thought to represent bone marrow edema and inflammation.


name: Modic type II vertebral endplate changes

description: An abnormal magnetic resonance tomography signal from a vertebral endplate with a high signal on T1-weighted sequences and high- or isointense signal on T2 sequences. Modic type II signals are thought to indicate fatty replacement in the bone marrow.


name: Modic type III vertebral endplate changes

description: An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1 and T2-weighted sequences. Modic type III signals are thought to correspond to subchondral sclerosis seen on plain radiographs.


Ethmocephaly

description: Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears.


name: Abnormality of the protein C anticoagulant pathway

description: An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC.


name: Increased circulating free fatty acid level

description: A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues.


name: Increased circulating interleukin 6 concentration

description: The concentration of interleukin-6 in the blood circulation is above the upper limit of normal.


Mediastinal cystic lymphangioma

description: A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors.


Photopsia

description: Perceived flashes of light.


Cerumen abnormality

description: Any anomaly of the cerumen (ear wax), the yellowish waxy substance secreted in the ear canal.


Impacted cerumen

description: Blockage of the external auditory canal by a buildup of earwax.


Excessive cerumen

description: An increased quantity of earwax.


Abnormal cerumen color

description: An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color.


Abnormal jaw morphology

description: A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla.


Jaw swelling

description: Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible).


name: Abnormal circulating C-peptide concentration

description: An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion.


Reduced C-peptide level

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


Increased C-peptide level

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


name: Reduced volume of central subdivision of bed nucleus of stria terminalis

description: A diminished volume of the central part of the bed nucleus of the stria terminalis.


name: Abnormality of the bed nucleus of stria terminalis

description: The stria terminalis is a slender, compact fiber bundle that connects the amygdala (amygdaloid body) with the hypothalamus and other basal forebrain regions. The bed nucleus of the stria terminalis is a limbic forebrain structure that receives heavy projections from, among other areas, the basolateral amygdala, and projects in turn to hypothalamic and brainstem target areas that mediate many of the autonomic and behavioral responses to aversive or threatening stimuli. This term refers to an anomaly of the bed nucleus.


Scaphocephaly

description: Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis.


Abnormal visual accommodation

description: An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power.


Reduced visual accommodation

description: A decreased ability of the eye to adjust and thereby enable sharp vision of objects at different distances.


Lower eyelid retraction

description: Inferior malposition of the lower eyelid margin without eyelid eversion.


Platonychia

description: Abnormal flat nail.


Trachyonychia

description: Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix.


Absent lunula

description: Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail.


Fast-growing nails

description: Nails whose growth is quicker than normal.


Abnormal nail growth

description: Nail whose growth pattern or speed deviates from normal.


Ragged cuticle

description: The cuticle (properly known as the eponychium, or the medial nail fold or the proximal nail fold), is the thickened layer of skin surrounding fingernails and toenails. Its function is to protect the area between the nail and epidermis from exposure to bacteria. This term refers to the presence of and irregular edge or outline of the cuticle.


Abnormal tongue morphology

description: Any structural anomaly of the tongue.


Abnormal tongue physiology

description: Any functional anomaly of the tongue.


Enlarged tonsils

description: Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat.


Absent tonsils

description: Lack of observable tonsillar tissue.


Orange discolored tonsils

description: A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903.


Lipoma of the tongue

description: A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue.


Beaked nails

description: Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit.


Central nail canal

description: The presence of a depressed line ("canal") in the center of the nail.


Ski jump nail

description: Nails that slope upward at the free edge.


Hooded eyelid

description: Eyelid partly covered by skin when eyes are open.


Hooded lower eyelid

description: Lower eyelid partly covered by skin when eyes are open.


Hooded upper eyelid

description: Upper eyelid partly covered by skin when eyes are open.


Scleral thickening

description: Increased dimension of the sclera in the anterior-posterior axis.


Mizuo phenomenon

description: Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14].


Absent foveal reflex

description: Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.


Eyelid fasciculation

description: Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching.


Wheezing

description: A high-pitched whistling sound associated with labored breathing.


Abnormal breath sound

description: An anomalous (adventitious) sound produced by the breathing process.


Crackles

description: Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position.


Rhonchi

description: Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds.


Vitreous strands

description: Fiber- or rope-like opacities located within the vitreous humor.


Neck pain

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


Shoulder pain

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


Elbow pain

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


Wrist pain

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


Finger pain

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


Hip pain

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


Knee pain

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


Ankle pain

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


Toe pain

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


Choking episodes

description: Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing.


Cardiac amyloidosis

description: Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.


Undetectable pattern electroretinogram

description: Absent response to a pattern electroretinogram (PERG).


Heliotrope rash of eyelid

description: Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema.


Abnormality of venous physiology

description: An anomaly of venous function.


Abnormal jugular venous pressure

description: An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure.


Elevated jugular venous pressure

description: Increased jugular venous pressure.


Hepatojugular reflux

description: The examiner applies firm but persistent pressure over the liver for 10 seconds while observing the mean jugular venous pressure. Normally there is either no rise or only a transient (i.e., 2 to 3 sec) rise in mean jugular venous pressure. A sustained increase in the mean venous pressure until abdominal compression is released is abnormal and indicates impaired right heart function. This abnormal response is called hepatojugular reflux.


Abnormal pulse pressure

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


Low pulse pressure

description: Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).


High pulse pressure

description: Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).


Scleral staphyloma

description: A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.


Anterior staphyloma

description: A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.


Eye movement-induced pain

description: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding.


Addictive behavior

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


name: Anti-topoisomerase I antibody positivity

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


Abnormal CSF amyloid concentration

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


Decreased CSF amyloid concentration

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


Elevated CSF amyloid concentration

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


Nasal flaring

description: Widening of the nostrils upon inhalation as a manifestation of respiratory distress.


Intercostal retractions

description: A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress.


Large elbow

description: Abnormal increased size of the elbow joint.


Large knee

description: Abnormally increased size of the knee joint.


Vertical orbital dystopia

description: The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other.


Monorchism

description: Having only one testis in the scrotum.


Abnormality of spinal facet joint

description: An anomaly of the small joints located between and behind adjacent vertebrae.


Facet joint arthrosis

description: Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray.


Abnormal cardiac ventricular function

description: An abnormality of the cardiac ventricular function.


Anti-centromere antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components.


Oxygen desaturation on exertion

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


Abnormality of pulmonary circulation

description: A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart.


name: Increased pulmonary capillary wedge pressure

description: Pulmonary capillary wedge pressure (PCWP) above 15mmHg.


Reduced FEV1/FVC ratio

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


name: Abnormality on pulmonary function testing

description: Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography.


Interlobular septal thickening

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


Femoroacetabular impingement

description: Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis.


Gastrojejunal tube feeding in infancy

description: Feeding problem necessitating gastrojejunal tube feeding.


Recurrent parasitic infections

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


Abnormal lymphocyte apoptosis

description: A anomaly in the rate of programmed cell death (apoptosis) in lymphocytes.


Increased lymphocyte apoptosis

description: A elevation in the rate of apoptosis in lymphocytes.


C3 nephritic factor positivity

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


Congenital shortened small intestine

description: Substantially shortened length of the small intestine as a result of a developmental defect.


name: Hyperintensity of cerebral white matter on MRI

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


name: Periventricular white matter hyperintensities

description: Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.


name: Deep cerebral white matter hyperintensities

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


name: Abnormal response to short acting pulmonary vasodilator

description: Pulmonary vasodilator testing is performed during right-heart catheterization and involves a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. The current definition of a normal (positive) response is a drop in mean pulmonary artery pressure of at least 10 mm Hg (or 20 percent) to below 40 mm Hg.


name: Insufficient response to short acting pulmonary vasodilator

description: No fall in mean pulmonary arterial pressure (mPAP) falls by at least 10 mmHg to an absolute value less than 40 mmHg without a degradation in cardiac output (CO) in response to a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide.


Abnormal gastrointestinal motility

description: An anomaly of the muscular contractions that propel food though the gastrointestinal tract.


Abnormal gastrointestinal transit time

description: A deviation from the normal amount of time required for food to pass through the intestines.


Decreased intestinal transit time

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


Pruritis on abdomen

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


Pruritis on hand

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


Pruritus on foot

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


Pruritis on breast

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


Palmomental reflex

description: A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm.


Grasp reflex

description: A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395].


Glabellar reflex

description: A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign.


Snout reflex

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


Suck reflex

description: A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner's finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched.


Thunderclap headache

description: Severe head pain with sudden onset, reaching its maximum intensity in less than one minute and lasting from one hour to ten days.


name: Liver kidney microsome type 1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against P450 2D6, a cytochrome P450 mono-oxygenase. Anti-LKM-1 antibodies are considered to be a diagnostic marker of autoimmune hepatitis type 2 (AIH2).


name: Anti-liver cytosolic antigen type 1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction.


Bifid clitoris

description: Two clitorides located side by side.


Duplicated clitoris

description: Supernumerary clitoris.


name: Exaggerated rugosity of the labia majora

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


Abnormal peristalsis

description: An anomaly of the wave-like muscle contractions of the digestive tract.


Cerebellar edema

description: Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum.


Low APGAR score

description: An Apgar score less than seven.


Oral erythroplakia

description: A velvety red but not ulcerated lesion of the oral mucosa. The texture may be roughened or normal, and the lesion is neither raised nor depressed.


name: Abnormal intestinal smooth muscle morphology

description: A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine.


Abnormal layering of muscularis propria

description: Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer.


Fibrotic muscularis propria

description: The presence of excessive fibrous connective tissue in the muscularis propria of the intestine. Fibrosis is a reparative or reactive process.


name: Enteric intraneuronal nuclear inclusion bodies

description: Aggregates of stainable substances (proteins) in the nuclei of enteric neurons.


Palpebral thickening

description: An increased thickness of the eyelid not related to acute inflammation.


Conjunctival papillae

description: Raised tissue masses located on the palpebral conjunctiva with a central vessel. Papillae are created by a focal infiltration of inflammatory cells.


Conjunctival follicles

description: Small, dome-shaped nodules without a prominent central vessel located on the conjunctiva. The lymphoid follicles are located in the subendothelial region of the conjunctiva. They consist of a germinal center that contains immature, proliferating lymphocytes, as well as a corona that contains mature lymphocytes and plasma cells.


description: Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.


Glomerular deposits

description: An abnormal accumulation of protein in the glomerulus.


Pulmonary venous hypertension

description: An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension.


Skeletal muscle fibrosis

description: Excessive formation of fibrous bands of scar tissue in between muscle fibers.


Conjunctival hyperemia

description: Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera.


name: Abnormality of cardiovascular system electrophysiology

description: An anomaly of the electrical conduction physiology of the heart.


Ventricular septal aneurysm

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


Membranous ventricular septal aneurysm

description: Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle).


Muscular ventricular septal aneurysm

description: Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle).


Microspherophakia

description: Lens of the eye is smaller than normal and spherically shaped.


name: Abnormal morphology of the great vessels

description: A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta.


Aortic stiffness

description: The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension.


Abnormal pulmonary artery morphology

description: An abnormality of the structure of the pulmonary artery.


Abnormal pulmonary artery physiology

description: An abnormality of the function of the pulmonary artery.


Abnormal pulmonary vein morphology

description: An abnormality of the structure of the pulmonary veins.


Abnormal pulmonary vein physiology

description: An abnormality of the function of the pulmonary veins.


Abnormal vena cava physiology

description: An abnormality of the function of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava.


Abnormal systemic blood pressure

description: A chronic deviation from normal pressure in the systemic arterial system.


Postexertional symptom exacerbation

description: Post-exertional symptom exacerbation (PESE), also referred to as post-exertional malaise (PEM), is defined as the worsening of symptoms that can follow minimal cognitive, physical, emotional, or social activity, or activity that could previously be tolerated. Symptoms typically worsen 12 to 72 hours after activity and can last for days or even weeks, sometimes leading to a relapse.


Cryptozoospermia

description: A type of oligozoospermia in which spermatozoa can be detected in an ejaculate only after centrifugation and inspection of the pellet.


Pontine tegmental cap

description: An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle.


Abnormal factor VIII activity

description: A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.


Increased factor VIII activity

description: Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.


Decreased CSF/serum albumin ratio

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


Dilatation of large choroidal vessels

description: Enlargement of the large blood vessels in the choroid.


Reduced brain glutamine level by MRS

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


Abnormal CSF/serum albumin ratio

description: A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF.


Abnormal serum bile acid concentration

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


Decreased serum bile acid concentration

description: A reduction in the concentration of bile acid in the blood.


Biliary epithelial hyperplasia

description: Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen.


Granulomatous cholangitis

description: Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts.


Lymphoid cholangitis

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


Pleomorphic cholangitis

description: Cholangitis associated with mixed inflammatory infiltrates and the presence of fibrosis or sclerosis of the biliary tree.


Abnormal pancreatic duct morphology

description: Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum.


Duplication of pancreatic duct

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


Pancreas divisum

description: A congenital anomaly of the pancreas that results from failed fusion of the dorsal and ventral ducts during embyological development. Three variants have been described: type 1 or classical divisum in which there is total failure of fusion; type 2 in which dorsal drainage is dominant in the absence of the duct of Wirsung; and type 3 or incomplete divisum where a small communicating branch is present.


Peritoneal effusion

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


Megaduodenum

description: Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum.


Atretic vas deferens

description: Abnormal closure or blockage of the vas deferens.


Abnormal vestibular saccule morphology

description: Any structural anomaly of the saccule of the vestibule. The saccule is the otolith organ that senses motions in the sagittal plane (i.e., up-down movement).


Vestibular saccular degeneration

description: Deterioration or loss of the tissues of the saccule of the vestibule.


Minifascicle formation

description: A nerve fascicle or fasciculus is a small bundle of axons, enclosed by the perineurium. A minifascule refers to a group of thinly myelinated and unmyelinated axons surrounded by a delicate perineurium, and with a smaller diameter than a normal nerve fascicle.


Hemiareflexia

description: Areflexia that is limited to one side of the body.


Acroparesthesia

description: A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes.


name: Orofacial action-specific dystonia induced by speech


Lingual dystonia

description: Involuntary protrusions, movements, spams and contortions of the tongue.


Hyperphalangy of the 3rd finger

description: An accessory phalanx of the third (middle) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint.


Fatty streak

description: Yellow-colored streaks, patches, or spots on the intimal surface of arteries. Fatty streaks stain red with Sudan III or Sudan IV.


Thin-cap fibroatheroma

description: Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring less than 65 micrometers and typically containing numerous macrophages, and is considered to be the precursor lesion of plaque rupture which is the most common cause of coronary thrombosis.


Arteria lusoria

description: Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria.


name: Alternating radiolucent and radiodense metaphyseal lines

description: Areas of radio-opaque sclerotic bands alternating with those of normal lucency give rise to stripes akin to a zebra.


Swiss cheese atrial septal defect

description: Multiple defects in the atrial septum.


Pyknotic bone marrow neutrophils

description: Nuclear lobes of neutrophils in the bone marrow are thickened and condensed, and individual lobes are connected by unusually long chromatin filaments.


Bone marrow hypercellularity

description: A larger than normal amount or percentage of hematopoietic cells relative to marrow fat.


Oropharyngeal squamous papilloma

description: A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium [NCI thesaurus].


Internal notch of the femoral head

description: A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546.


Lactescent serum

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


name: Elevated circulating carcinoembryonic antigen concentration

description: Concentration of the carcinoembryonic antigen (CEA) in the blood circulation above the upper limit of normal. CEA is a member of the immunoglobulin supergene family. The human CEA gene family is clustered on chromosome 19q and comprises 29 genes. CEA is highly expressed in embryonic tissue and in some cancers, and is a widely used tumor marker.


Elevated carcinoma antigen 125 level

description: An increased blood concentration of carcinoma antigen 125 (CA-125). CA-125, also known as mucin 16, can exhibit increased blood levels in certain types of cancer.


Abnormal retinol-binding protein level

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


Decreased retinol-binding protein level

description: A reduced blood concentration of retinol-binding protein. This finding predicts vitamin A deficiency with high sensitivity and specificity.


Impaired urinary acidification

description: The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect.


name: Abnormal insulin like growth factor binding protein acid labile subunit level

description: A deviation from the normal blood concentration of the insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483). The acid-labile subunit (IGFALS) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier.


Chronic infection

description: Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection.


name: Reduced growth-hormone binding protein level

description: A decreased blood concentration of growth hormone binding protein.


Reduced insulin-like factor 3 level

description: Blood concentration of insulin-like factor 3 (ILF3) is below normal limits.


Spermatogenesis maturation arrest

description: Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa.


Spermatocyte maturation arrest

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


Round spermatid arrest

description: A failure of spermatogenesis to progress beyond the round spermatid stage. The round spermatid is the first haploid cells produced during spermatogenesis and normally further develop into mature spermatozoa. This abnormality can be visualized with testicular biopsy and is characterized seminiferous tubules with increased numbers of round spermatids with few or no mature spermatozoa.


Strawberry tongue

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


Acral blistering

description: Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet).


Absent soft palate

description: A developmental defect characterized by lack of a soft palate.


Light-chain paraproteinemia

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


Heavy-chain paraproteinemia

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


Whole-immunoglobulin paraproteinemia

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


Tarsal sclerosis

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


name: Elevated vascular endothelial growth factor level

description: Increased blood concentration of vascular endothelial growth factor (VEGF).


name: Coarctation in the transverse aortic arch

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


Long segment coarctation of the aorta

description: Coarctation of the aorta is a narrowing or constriction of a long segment of the arch of the aorta.


name: Abnormal branching pattern of left aortic arch

description: A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries, whereby the aortic arch descends on the left as normal (as opposed to right aortic arch).


Fusiform cerebral aneurysm

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


Skin fissure

description: A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis.


name: Impairment of activities of daily living

description: Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure.


Impaired ability to bathe oneself

description: This term applies to an individual who requires help to bathe more than one part of the body, get in or out of the tub or shower, or who requires total bathing.


Impaired ability to dress oneself

description: This applies to an individual who needs help with dressing or needs to be completely dressed.


Impaired toileting ability

description: This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode.


Impaired transferring ability

description: Applies to an individual who needs help in moving from bed to chair or requires a complete transfer.


Impaired feeding ability

description: Applies to an individual who needs partial or total help with feeding or requires parenteral feeding.


Impaired continence

description: Partial or total incontinence of bowel or bladder.


Abnormal ovarian physiology

description: Any anomaly of ovarian function.


Empty ovarian follicle

description: A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization.


Abnormal femoral torsion

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


Abnormal endocrine morphology

description: Any anomaly of the structure of an organ ofthe endocrine system.


Abnormal endocrine physiology

description: Any anomaly of the function of the endocrine system.


name: Abnormal response to endocrine stimulation test

description: An anomalous response to a test that is designed to probe the function of the endocrine system.


name: Abnormal response to ACTH stimulation test

description: An anomolous response to stimulation by adminstration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline.


name: Abnormal response to insulin tolerance test

description: An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measured at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level.


name: Impaired cortisol response to insulin stimulation test

description: Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT).


name: Abnormal response to corticotropin releasing hormone stimulation test

description: An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals.


name: Impaired cortisol response to corticotropin releasing hormone stimulation test

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


name: Impaired growth-hormone response to insulin stimulation test

description: Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT).


name: Abnormal response to glucagon stimulation test

description: An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH).


name: Impaired cortisol response to glucagon stimulation test

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


name: Impaired growth-hormone response to glucagon stimulation test

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


name: Abnormal response to human chorionic gonadotrophin stimulation test

description: An anomalous response to intravenous stimulation by human chorionic gonadotrophin. Stimulation with hCG stimulates testicular Leydig cells to secrete androgens via the Leydig hormone receptors.


name: Excessive insulin response to glucagon test

description: An abnormally high increase in insulin levels following a glucagon stimulation test.


name: Decreased circulating prealbumin concentration

description: Concentration of prealbumin in the blood circulation below the lower limit of normal. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status.


Ectopic ovary

description: Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels.


Absent pubertal growth spurt

description: The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur.


Vaginal dryness

description: Persistent vaginal dryness.


Palatal edema

description: Swelling related to fluid accumulation within the palate.


Finger dactylitis

description: Fingers appear swollen and plump owing to inflammation of the complete finger.


Toe dactylitis

description: Toes appear swollen and plump owing to inflammation of the complete toe.


Spindle-shaped finger

description: Swelling of the hand at the knuckles, that gives the fingers a spindle shape (i.e., a round stick with tapered end and a broader base).


Abnormal breast morphology

description: Any anomaly of the structure of the breast.


Abnormal breast physiology

description: Any anomaly of the function of the breast.


Abnormal humerus morphology

description: Any anomaly of the structure of the humerus.


Delayed vertebral ossification

description: A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age.


name: Abnormal thyroid-stimulating hormone level

description: Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.


name: Decreased thyroid-stimulating hormone level

description: Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.


Abnormal circulating inhibin level

description: Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone.


name: Decreased circulating inhibin B concentration

description: The concentration of inhibin B in the blood circulation is below the lower limit of normal.


name: Abnormal circulating antimullerian hormone concentration

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


name: Increased circulating antimullerian hormone concentration

description: An elevation above the normal range of the antimullerian hormone in the circulation.


name: Decreased cirrculating antimullerian hormone circulation

description: A reduction below the normal range of the antimullerian hormone in the circulation.


Insulin receptor antibody positivity

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


Abnormal uterus morphology

description: Any anomaly of the structure of the uterus


T-shaped uterus

description: An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging.


Decreased fibular diameter

description: Reduced width of the cross sectional diameter of the fibula.


Triceps weakness

description: A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements.


Agalactia

description: Failure of secretion of milk following childbirth associated with an inability to breastfeed an infant.


Cutaneous hamartoma

description: A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin.


Purely bicuspid aortic valve

description: A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis.


Single raphe bicuspid aortic valve

description: A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size.


name: Bicuspid aortic valve with right-left cusp fusion

description: A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure.


name: Bicuspid aortic valve with right-noncoronary cusp fusion

description: A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and noncoronary cusps (RN fusion pattern). This results in two leaflets with right-left leaflet orientation (also called the atypical pattern). There is thus one completely developed left cusp, two completely developed commissures, and one raphe between the underdeveloped right and noncoronary coronary cusps extending to the corresponding malformed commissure.


name: Bicuspid aortic valve with left-noncoronary cusp fusion

description: A type of bicuspid aortic valve (BAV) characterized by a single raphe between the left and noncoronary cusps (LN fusion pattern). There is thus one completely developed right cusp, two completely developed commissures, and one raphe between the underdeveloped left and noncoronary coronary cusps extending to the corresponding malformed commissure.


Two-raphe bicuspid aortic valve

description: A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis.


Recurrent gastroenteritis

description: Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis.


name: Decreased platelet thromboxane A2 receptor

description: Decreased cell membrane concentration of thromboxane A2 receptor that is stimulated by thromboxane A2 (TBXA2).


name: Decreased platelet alpha-2A-adrenergic receptor

description: Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine.


Impaired clot retraction

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


name: Impaired convulxin-induced platelet aggregation

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


name: Impaired collagen-related peptide-induced platelet aggregation

description: Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP.


name: Impaired phorbol myristate acetate-induced platelet aggregation

description: Abnormal response to phorbol myristate acetate (PMA) as manifested by reduced or lacking aggregation of platelets upon addition of PMA.


name: Impaired calcium ionophore-induced platelet aggregation

description: Abnormal response to calcium Ionophore (such as A23187) as manifested by reduced or lacking aggregation of platelets upon addition of the ionophore.


name: Abnormal platelet phosphatidylserine exposure

description: An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement.


name: Impaired annexin V binding to platelet phosphatidylserine

description: Reduced binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry.


name: Increased annexin V binding to platelet phosphatidylserine

description: Elevated binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry.