Cor triatrium sinister

description: A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum.


Triggered by physical trauma

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

description: Applies to a sign or symptom that is provoked or brought about by exposure to a trauma (injury to tissue).


Decreased acrosin in sperm head

description: A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process.


Storage in hepatocytes

description: Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material.


name: Abnormal circulating B-type natriuretic peptide concentration

description: A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP).


Frog-leg posture

description: A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog.


Abnormal liver sonography

description: An abnormal appearance of the liver or any of its components on sonography (ultrasound).


Increased hepatic echogenicity

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


Abnormal hepatic echogenicity

description: Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen).


Decreased hepatic echogenicity

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


Coarsened hepatic echotexture

description: The appearance of the liver in sonographic images is normally uniform. This term applies when there is an irregular or non-uniform appearance of the liver parenchyma in liver sonography.


name: Starry sky appearance on hepatic sonography

description: An abnormal echotexture visible in liver ultrasound manifesting as a diffuse hyperechoic liver echotexture with multiple, small hypoechoic lesions. The appearance is said to resemble a starry sky (multiple white spots on a dark background).


Impaired oral bolus formation

description: An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed.


Vitreomacular adhesion

description: Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions.


Vitreomacular traction

description: Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad.


Full-thickness macular hole

description: Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction.


Membranous vitreous appearance

description: Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane.


Beaded vitreous appearance

description: Vitreous humor of the eye displaying beaded bundles of irregular diameters.


name: Increased Arden ratio of electrooculogram

description: An abnormal increase in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record.


Decreased platelet glycoprotein Ib

description: Decreased platelet cell membrane concentration of glycoprotein Ib.


Carotid cavernous fistula

description: An abnormal connection between a carotid artery and the cavernous sinus.


Widened atrophic scar

description: An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility.


Thinning of Descemet membrane

description: A reduction in the thickness of Descemet's membrane.


Myelokathexis

description: Impaired egress of mature neutrophils from bone marrow causing neutropenia.


Reduced brain glutamate level by MRS

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


Impaired oropharyngeal swallow response

description: Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars.


Low femoral bone density

description: Reduced bone mineral density of the femur.


Growth arrest lines

description: Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone.


Multifocal seizures

description: Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations).


Eyelid myokymia

description: Involuntary, fine, continuous, undulating contractions of the eyelid.


Postterm pregnancy

description: A pregnancy that extends to 42 weeks of gestation or beyond.


Female fetal virilization

description: Fetal masculinization of female external genitalia.


Femoral spur

description: A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck.


Sectoral retinitis pigmentosa

description: A variant of retinitis pigmentosa in which there is a regional distribution of the retinal degeneration.


Tibial spur

description: A bony projection (spur, osteophyte) originating from the tibia.


Double-layered patella

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


Absent cervical vertebra

description: A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine.


Absent thoracic vertebra

description: A developmental defect characterized by agenesis of one or more vertebral bodies of the thoracic spine.


Finger flexor weakness

description: Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion.


Fixed head retroflexion

description: Head is bent in the posterior direction in a permanent fashion.


Nuchal rigidity

description: Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated.


Erythema migrans

description: An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter).


Necrolytic migratory erythema

description: Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution.


name: Increased circulating NT-proBNP concentration

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


name: Abnormal circulating deoxycorticosterone level

description: An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone.


name: Abnormal circulating pregnenolone concentration

description: An abnormality of the concentration of pregnenolone in the blood.


Genital edema

description: A buildup of fluid that causes swelling in the soft tissues of the genital area.


Wrist drop

description: A condition in which the affected individual cannot extend the wrist, which hangs flaccidly.


name: Superficial dermal perivascular inflammatory infiltrate

description: Numerous lymphocytes surrounding blood vessels in the superfical part of the dermis.


name: Deep dermal perivascular inflammatory infiltrate

description: Numerous lymphocytes surrounding blood vessels in the deep part of the dermis.


name: Abnormal morphology of left ventricular trabeculae

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


name: Abnormal morphology of right ventricular trabeculae

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


name: Increased density of left ventricular trabeculae

description: An increased density (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae).


name: Apical hypertrabeculation of the left ventricle

description: An increased number and density of the trabeculae in the apex (tip) of the left ventricle.


Thin myocardium compact layer

description: Reduced thickness of the outer, dense layer of the myocardium.


Cellular urinary casts

description: A type of urinary cast composed of cells incorporated in a protein matrix. The cells can be those found in the urinary sediment (erythrocytes, leuklocytes, renal tubular epithelial cells).


Renal tubular epithelial cell casts

description: A type of cellular urinary cast composed of renal tubular epithelial cells.


Acellular urinary casts

description: A type of urinary cast composed of a proteinaceous matrix without a substantial number of cells.


Hyaline casts

description: A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends.


Granular casts

description: A type of acelluar casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented.


Waxy casts

description: A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts.


Fatty casts

description: A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarized light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses.


Bacterial cell casts

description: A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection.


Reduced lysosomal acid lipase activity

description: Reduction in the activity of lysosomal acid lipase (LAL) in the blood. Lysosomal lipase activity is measured. LAL hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins.


Striatal T2 hyperintensity

description: Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging.


name: Increased pituitary glycoprotein hormone alpha subunit level

description: An increased concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones.


name: Decreased circulating lipoprotein lipase concentration

description: Reduction in the level of lipoprotein lipase in the blood.


name: Abnormal circulating hyaluronic acid concentration

description: A deviation from the normal concentration of hyaluronic acid in the blood.


Elevated cholesterol ester level

description: An elevated concentration of circulating cholesterol esters, which are fatty acid esters of cholesterol and make up about two-thirds of total plasma cholesterol.


name: Elevated circulating 17-hydroxyprogesterone concentration

description: An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase.


name: Decreased circulating dehydroepiandrosterone concentration


name: Decreased circulating dehydroepiandrosterone-sulfate concentration

description: A reduced concentration of dehydroepiandrosterone-sulfate in the blood.


Increased circulating progesterone

description: An elevated concentration of progesterone in the blood.


Hot flashes

description: Sudden feelings of warmth that are generally most pronounced over the face, neck and chest.


Reduced radioactive iodine uptake

description: A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.


Increased radioactive iodine uptake

description: An elevated amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.


name: Abnormal radioactive iodine uptake test result

description: Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.


name: Increased circulating thyroxine-binding globulin level

description: An elevated concentration of thyroxine-binding globulin (TBG) in the blood.


Focal pancreatic islet hyperplasia

description: Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others.


Diffuse pancreatic islet hyperplasia

description: Hyperplasia of the islets of Langerhans with a generalized distribution.


Intrapulmonary shunt

description: Blood flow through a region of the lung in which little or no ventilation takes place, resulting in reduced oxygenation of the blood leaving the lungs.


Perinephric fluid collection

description: An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography.


Abnormal incisura morphology

description: An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus.


Increased incisura length

description: The length of the incisura from the upper to lower border is greater than that observed in the average population.


Decreased incisura length

description: The length of the incisura from the upper to lower border is less than that observed in the average population.


Narrow incisura width

description: Width of the incisura from the anterior to posterior border less than that observed in the average population.


Increased incisura width

description: Breadth of the incisura from the anterior to posterior border greater than that observed in the average population.


Horizontal inferior border of scapula

description: A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape).


Neutrophilic infiltration of the skin

description: A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin).


name: Predominantly epidermal neutrophilic infiltrate

description: Collection of neutrophils in the epidermis.


name: Predominantly dermal neutrophilic infiltrate

description: Collection of neutrophils in the dermis.


name: Internally nucleated skeletal muscle fibers

description: An abnormally increased proportion of nuclei of sarcomeres with an internal localization. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5% of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei.


Necklace skeletal muscle fibers

description: A histological alteration of muscle fibers that resembles a necklace (necklace fibers). A substantial proportion of fibers (4-20% in PMID:19084976) show internalized nuclei aligned in a basophilic ring (necklace) at 3 micrometers beneath the sarcolemma. Ultrastructurally, such necklaces consist of myofibrils of smaller diameter, in oblique orientation, surrounded by mitochondria, sarcoplasmic reticulum and glycogen granules.


description: A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 200 to 1500 micrometers from the center of the fovea.


description: A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 1 to 199 micrometers from the center of the fovea.


Subfoveal choroidal neovascularization

description: A type of choroidal neovascularization in which the area of neovascularization overlaps with the center of the fovea.


name: Decreased circulating chylomicron concentration

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


name: Decreased VLDL cholesterol concentration

description: A reduction in the amount of very-low-density lipoprotein cholesterol in the blood.


Swollen lip

description: Enlargement of the lip typically due to fluid buildup or inflammation.


Productive cough

description: A cough that produces phlegm or mucus.


Nonproductive cough

description: A cough that does not produce phlegm or mucus.


Whooping cough

description: A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air.


Palmar pruritus

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 palm(s) of the hand.


Parageusia

description: A distortion of the sense of taste, often characterized by the sensation of a metallic taste.


Lip fissure

description: A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation.


Abnormal subclavian artery morphology

description: Any anomaly of a subclavian artery.


Dilated left subclavian artery

description: Abnormally increased caliber of the left subclavian artery.


name: Anomalous origin of left subclavian artery

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


Thalamic arteriovenous malformation

description: An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the thalamus.


Hypothalamic arteriovenous malformation

description: An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the hypothalamus.


Optic nerve arteriovenous malformation

description: An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the optic nerve.


name: Arteriovenous malformation of the maxilla

description: An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the maxilla.


Triangular tibia

description: A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle directed laterally.


Bladder polyp

description: An abnormal growth that projects from the mucous membrane of the urinary bladder.


Abnormal renal corpuscle morphology

description: Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule.


Abnormal Bowman capsule morphology

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


name: Abnormal glomerular visceral epithelial cell morphology

description: Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary.


Podocyte foot process effacement

description: An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier.


name: Abnormal CD69 upregulation upon TCR activation

description: Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus.


name: Decreased CD69 upregulation upon TCR activation

description: Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR).


name: Abnormal CD25 upregulation upon TCR activation

description: Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression.


name: Decreased CD25 upregulation upon TCR activation

description: Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR).


Absent ankle pulse

description: The pulsation of the posterior tibial artery behind the internal malleolus, or of the dorsalis pedis artery, cannot be detected on physical examination.


Pulmonary arterial atherosclerosis

description: Accumulation of lipids and inflammatory cells along the inner walls of the pulmonary artery.


Shock

description: The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury.


Hypovolemic shock

description: A state of shock characterized by decreased circulating blood volume in relation to total vascular capacity. This type of shock is characterized by a reduction of diastolic filling pressures.


Distributive shock

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


Obstructive shock

description: A type of shock characterized by inadequate cardiac preload due to obstructed venous return (e.g. pericardial tamponade, tension pneumothorax, abdominal compartment) or obstruction of arterial blood flow (e.g. pulmonary embolism).


Abnormal thoracic duct morphology

description: Any structural anomaly of the thoracic duct.


name: Abnormal response to gonadotropin-releasing hormone stimulation test

description: An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH).


name: Increased LH response to gonadotropin-releasing hormone stimulation test

description: An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormone stimulation test.


Malalignment of the great toenail

description: A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges.


Tufted hairs

description: The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice.


Flushing

description: Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin.


Abnormal perifollicular morphology

description: Any structural anomaly in the areas surrounding the hair follicles.


Perifollicular erythema

description: Redness surrounding the hair follicles.


Cobblestone-like hyperkeratosis

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


White papule

description: A papule with white color.


Tuberous xanthoma

description: A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes.


Ichthyosis follicularis

description: Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed.


Cutaneous abscess

description: A circumscribed area of pus or necrotic debris in the skin.


Digital pitting scar

description: Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe.


Hypoplastic right atrium

description: Underdeveloped, small right heart atrium.


Left atrial enlargement

description: Increase in size of the left atrium.


Atrial septal hypertrophy

description: An abnormal increase in the thickness of the atrial septum.


Unroofed coronary sinus

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


Coronary sinus enlargement

description: Abnormal increase in size of the coronary sinus.


Elevated left atrial pressure

description: An abnormal increase in magnitude of the pressure in the left atrium.


Abnormal circulating properdin level

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


Peripheral arterial calcification

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


name: Lower extremity peripheral arterial calcification

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


Femoral arterial calcification

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


Iliac arterial calcification

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


Tibial arterial calcification

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


Intracranial arterial calcification

description: An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial).


Internal carotid artery calcification

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


Vertebral artery calcification

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


Cerebral artery calcification

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


Basilar artery calcification

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


Middle cerebral artery calcification

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


Abdominal aortic calcification

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


Carotid artery calcification

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


External carotid artery calcification

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


name: Abnormal ventricular myocardium morphology

description: A structural anomaly of the muscle layer of the heart wall of a cardiac ventricle.


name: Fatty replacement of ventricular myocardial tissue

description: Presence of an increased amount of fat tissue within a cardiac ventricle with corresponding reduction of muscle tissue.


Myofiber disarray

description: A nonparallel arrangement of cardiac myocytes.


Cardiomyocyte hypertrophy

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


description: An abnormal increase in the number of mitochondria per cardiac myocyte.


Myocardial immune cell infiltration

description: An increase in the number of immune cells in myocardial tissue (which can be assumed to have migrated into the myocardium).


Myocardial lymphocytic infiltration

description: An increase in the number of lymphocytes in myocardial tissue.


Myocardial eosinophilic infiltration

description: An increase in the number of eosinophils in myocardial tissue.


Myocardial multinucleated giant cells

description: The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin.


Myocardial granulomatous infiltrates

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


name: Monoclonal light chain cardiac amyloidosis

description: A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry.


Transthyretin cardiac amyloidosis

description: A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining.


Perivascular cardiac fibrosis

description: A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces.


Interstitial cardiac fibrosis

description: A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces.


name: Perivascular myocardial immune cell infiltration

description: An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels.


Abnormal cardiomyocyte morphology

description: Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue.


Cardiomyocyte degeneration

description: Deterioration of cardiomyocyte characterized by abnormal features such as loss of myofilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris.


Myocardial sarcomeric disarray

description: A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and actin that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes.


Cardiomyocyte inclusion bodies

description: Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes.


name: Abnormal cardiomyocyte mitochondrial morphology

description: An anomaly of the structure of mitochondria within cardiomyocytes.


Intranuclear cardiomyocyte mitochondria

description: Abnormal localization of mitochondria within the nuclei of cardiomyocytes.


name: Abnormal cardiomyocyte connexin43 staining

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


name: Abnormal cardiomyocyte plakoglobin staining

description: Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes.


name: Abnormal cardiomyocyte dystrophin staining

description: Anomalous staining of dystrophin in cardiomyocytes.


Abnormal lysosomal morphology

description: A structural anomaly of lysosomes, membrane-enclosed organelles that contain an array of enzymes capable of catabolizing proteins, nucleic acids, carbohydrates, and lipids.


Gastric arteriovenous malformation

description: An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the stomach.


Duodenal arteriovenous malformation

description: An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the duodenum.


Jejunal arteriovenous malformation

description: An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the jejunum.


Pelvic arteriovenous malformation

description: An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the pelvis.


Colonic arteriovenous malformation

description: An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the colon.


Rectal arteriovenous malformation

description: An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the rectum.


Uterine arteriovenous malformation

description: An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the uterus.


name: Dextrotransposition of the great arteries

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


Levotransposition of the great arteries

description: A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the left of the pulmonary artery.


Calcified amorphous tumor of the heart

description: A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue.


Chest tightness

description: An unpleasant sensation of tightness or pressure in the chest.


Otitis media with effusion

description: Otitis media characterized by thick or sticky fluid behind the tympanic membrane.


Sleep onset insomnia

description: Difficulty initiating sleep, that is, increased sleep onset latency, refers to the condition where it takes 30 minutes or more to fall asleep.


Maintenance insomnia

description: Individuals affected by abnormal difficulty in staying asleep tend to wake up at night and struggle to return to sleep. This condition typically involves spending more than 30 minutes awake during the night.


Terminal insomnia

description: A type of insomnia characterized by waking up too early in the morning is known as early morning awakening. The termination of sleep must occur at least 30 minutes before the desired time.


Vegetative state

description: The absence of wakefulness and consciousness, but in contrast to a coma, there is involuntary opening of the eyes and movements such as teeth grinding, yawning, or thrashing of the extremities.


Cutaneous sclerotic plaque

description: A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter that is characterized by hardening (sclerosis) of the affected skin area (related to collagen thickening).


Yellow skin plaque

description: A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter and that has a yellow color.


Zebra bodies

description: Intralysosomal, osmiophilic, lamellated and sometimes concentric cytoplasmic inclusions comprised of broad transversely-stacked myelinoid membranes and said to resemble a zebra in electron microscopic images.


Palpable purpura

description: A type of purpura in which the lesions are raised (and can therefore be appreciated upon palpation).


Ecchymosis

description: A purpuric lesion that is larger than 1 cm in diameter.


Macular purpura

description: Purpura that is flat (non-palpable, not raised).


Metaphyseal striations

description: Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis).


Colon perforation

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


Small intestinal perforation

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


Rectal perforation

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


Cold paresis

description: Increased muscle weakness upon exposure to cold temperatures.


Stiff tongue

description: Increased rigidity and reduced mobility of the tongue.


Ankle weakness

description: Reduced strength of the muscles that lift or otherwise move the foot at the ankle.


Abnormal cell proliferation

description: Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population.


Abnormal lymphocyte proliferation

description: Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population.


Abnormal T cell proliferation

description: Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population.


Abnormal B cell proliferation

description: Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population.


name: Decreased lymphocyte proliferation in response to mitogen

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


name: Decreased lymphocyte proliferation in response to anti-CD3

description: A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3.


name: Abnormal lymphocyte surface marker expression

description: Abnormal amount of a protein that is normally present on the cell surface of lymphocytes.


Reduced T cell CD40 expression

description: A deficiency in the expression of the CD40 ligand on the surface of activated T-lymphocytes.


Megakaryocyte nucleus hypolobulation

description: The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus.


Increased micromegakaryocyte count

description: The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter.


name: Increased multinucleated megakaryocyte count

description: The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow.


Megakaryocyte nucleus hyperlobulation

description: The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus.


Abnormal MHC II surface expression

description: A deviation from the normal level of major histocompatibility complex class II molecules expressed at the cell surface.


Reduced MHC II surface expression

description: A reduction from the normal level of major histocompatibility complex class II molecules expressed at the cell surface.


Elevated MHC II surface expression

description: An increase above the normal level of major histocompatibility complex class II molecules expressed at the cell surface.


name: Abnormal proportion of CD4-positive T cells

description: Any abnormality in the proportion of CD4-positive T cells relative to the total number of T cells.


name: Abnormal proportion of CD8-positive T cells

description: Any abnormality in the proportion of CD8 T cells relative to the total number of T cells.


Abnormal CD4:CD8 ratio

description: Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes.


Abnormal proportion of naive T cells

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


Decreased proportion of naive T cells

description: An abnormally decreased proportion of naive T cells relative to the total number of T cells.


Increased proportion of naive T cells

description: An abnormally increased proportion of naive T cells relative to the total number of T cells.


name: Abnormal proportion of double-negative alpha-beta regulatory T cell

description: An abnormal proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.


name: Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells

description: An abnormally decreased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.


name: Reduced antigen-specific T cell proliferation

description: Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus.


name: Impaired pathogen-specific CD8 cytoxicity

description: Impaired response of CD8 T cells to pathogens. CD8 T cells direct the killing of a target cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors.


Impaired antigen-specific response

description: An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).


Poroma

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


Abnormal cytokine signaling

description: Any abnormality in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription.


Impaired cytokine signaling

description: A defect or impairment in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription.


name: Increased proportion of CD25+ mast cells

description: An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain).


Abnormal lymphocyte physiology

description: Any anomaly of lymphocyte function.


name: Abnormal distribution of CD56 bright/dim natural killer cells

description: An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56, an adhesion molecule mediating homotypic adhesion, is used as a functional marker for NK cells.


Abnormal chromosome morphology

description: Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order.


Short telomere length

description: An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur.


High serum calcifediol

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


High serum calcitriol

description: An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.


Abnormal nasal mucus secretion

description: Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose.


Rhinorrhea

description: Increased discharge of mucus from the nose.


Increased body mass index

description: Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of overweight compared to averages.


name: Reduced sex -hormone binding protein level

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


name: Small yellow foveal lesion with surrounding gray zone

description: A lesion that is observed following light damage to the macula. Damage to the retinal by exposure to intense visible light, usually the sun. Intense light exposure such as staring at the sun causes fine structural anomalies in the outer segments of the photoreceptors and the retinal pigment epithelium (RPE) cells of the macula. Symptoms usually develop within 1 to 4 h after exposure and include decreased vision, metamorphopsia, micropsia, and central or paracentral scotomas. Fundus examination typically shows a small yellow spot with a surrounding gray zone in the foveolar or parafoveolar area. Spontaneous evolution leads to the improvement of visual acuity.


Small superior frontal cortex

description: Reduced size of the superior frontal portion of the cerebral cortex.


Abnormal cerebellar cortex morphology

description: Any structural anomaly of the cortex of the cerebellum.


Small cerebellar cortex

description: Reduced size of the cerebellar cortex.


name: Abnormal circulating beta-C-terminal telopeptide concentration

description: A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover.


name: Increased circulating beta-C-terminal telopeptide concentration

description: A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation.


name: Decreased circulating beta-C-terminal telopeptide concentration

description: A reduction from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation.


Abnormal circulating osteocalcin level

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


Increased circulating osteocalcin level

description: An elevated level of osteocalcin in the blood.


Decreased circulating osteocalcin level

description: A reduced level of osteocalcin in the blood.


Oligoclonal T cell expansion

description: The presence of a population of T cells with a restricted T cell receptor (TCR) repertoire derived from a limited number of TCR clones.


Persistent repetition of sounds

description: Repetition of sounds with no meaning.


name: Restricted or repetitive behaviors or interests

description: A broad range of compulsive behaviors are repeated, including simple motor stereotypies and tics, as well as more complex repetitive movements or compulsions.


Alexithymia

description: A deficit in emotional awareness is characterized by difficulties in recognizing and expressing feelings and emotions. This deficit manifests as a limited ability to respond to facial cues or other signs of emotions in others, often accompanied by detached connections to others.


Abnormal prosody

description: Abnormalities in the patterns of rhythm, stress, or intonation of speech or vocalization.


Monotonic speech

description: A speech pattern characterized by an abnormal lack of tone in the voice.


Singsong Intonation

description: A speech pattern characterized by abnormal fluctuations in the pitch of the voice.


name: Abnormal sex hormone-binding globulin level

description: A deviation from the normal concentration in the circulation of sex hormone-binding globulin, a circulating glycoprotein that transports testosterone and other steroids in the blood.


Abnormal angiostatin level

description: A deviation from the normal concentration in the circulation of angiostatin, an endogenous angiogenesis inhibitor, which blocks the growth of new blood vessels.


name: Abnormal tricuspid valve annulus morphology

description: Any structural anomaly of the annulus of the tricuspid valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.


name: Abnormal tricuspid chordae tendinae morphology

description: Any structural anomaly of the chordae tendinae of the tricuspid valve. The chordae tendineae connect the papillary muscles to the tricuspid valve.


name: Abnormal tricuspid valve leaflet morphology

description: Any structural anomaly of the leaflets (also known as cusps) of the tricuspid valve.


Dilatation of the tricuspid annulus

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


Oral mucosa nodule

description: A palpable, solid lesion greater than 5mm in diameter. that is located in the mucosa of the mouth.


Erosion of oral mucosa

description: Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion.


Penile freckling

description: Multiple pigmented macules located on the skin of the penis.


Herpetiform vesicles

description: Multiple vesicles distributed in multiple distinct groups consisting of multiple adjacent vesicles.


Perineal hemangioma

description: Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals.


name: Lower extremity subcutanous fat hypertrophy

description: An abnormal increase in the amount of subcutaneous fat in the legs.


Lichenoid skin lesion

description: Mutliple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple), shiny, isolated, flat-topped papules and plaques.


Oral lichenoid lesion

description: Mutliple lesions of the oral mucosa resembling those characteristic of the disease lichen planus. These are symmetric reticular lesions that resemble a white, lacelike network, as well as by papules, plaques, erythematous lesions, and erosions.


Apocrine hidrocystoma

description: A cystic lesions that forms a benign tumor of an apocrine sweat gland.


Presacral ganglioneuroma

description: A gangioleneuroma originating from sympathetic ganglion cells in the abdomen.


Pulmonary opacity

description: Opacity refers to any area that preferentially attenuates the x-ray beam and therefore appears more opaque than the surrounding area. It is a nonspecific term that does not indicate the size or pathologic nature of the abnormality.


Intramuscular Myxoma

description: A benign tumor that is usually solitary, painless, palpable mass that is firm in consistency and slightly movable and often fluctuant. It can occur in any location, but tends to involve the muscles of the thighs, buttocks, and shoulders. On microscopic examination, there is abundant mucoid material and relative hypo cellularity and loose reticulin fibers. Vascular structures are sparse. The cells have a stellate shape with small hyper chromatic pyknotic nuclei and scanty cytoplasm. Some myxomas may show focal areas of hyper cellularity. However absence of nuclear atypia, mitotic figures or necrosis helps to rule out malignancy.


Musculotendinous retraction

description: Abnormal reduction in length of a tendon which tends to pull (retract) the attached muscle tissue with shortening of the muscle fibers often accompanied by atrophy and fatty degeneration of the affected muscle tissue.


Genital blistering

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


Abnormal vasa vasorum morphology

description: A structural anomaly of vasa vasorum, which are defined as small blood vessels that supply or drain the walls of larger arteries and veins, delivering nutrients and oxygen as well as removing systemic waste products.


Impairment in personality functioning

description: A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning.


Negative affectivity

description: A tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states.


Separation insecurity

description: Fears of rejection by and/or separation from significant others are associated with fears of excessive dependency and complete loss of autonomy.


Low self-esteem

description: Low self-confidence and excessively critical feelings about oneself characterize a negative opinion about oneself.


Risky behavior

description: Engaging in dangerous, risky, and potentially self-damaging activities, without considering the consequences, is a sign of recklessness. It involves a disregard for one's limitations and a denial of personal danger.


Hostility

description: Persistent or frequent feelings of anger; anger or irritability in response to minor slights and insults.


Pulmonary chondroma

description: A benign cartilaginous tumors of the lung.


name: Status epilepticus without prominent motor symptoms

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


Abnormal buccal mucosa cell morphology

description: Any structural anomaly of the cells of the mucosa of the oral cavity in the region of the cheek (buccal mucosa cells).


name: Abnormal mitral valve annulus morphology

description: Any structural anomaly of the annulus of the mitral valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.


Dilatation of the mitral annulus

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


name: Abnormal mitral valve leaflet morphology

description: Any structural anomaly of the leaflets (also known as cusps) of the mitral valve.


Abnormal mitral valve physiology

description: Any functional anomaly of the mitral valve.


name: Abnormal regional left ventricular contraction

description: A wall motion abnormality observed upon left ventricular contraction that affects a specific region of the left ventricle.


name: Reduced contraction of the left ventricular apex

description: Reduced wall motion (contraction) of the apex of the left ventricle. This manifestation can be observed on echocardiography.


Cold-induced hemolysis

description: A form of hemolytic anemia that can be triggered by cold temperatures.


Subperiosteal bone formation

description: The formation of new bone along the cortex and underneath the periosteum of a bone.


Vascular malformation of the lip

description: An anomaly of blood vessels located in the lip.


Capillary malformation of the lip

description: A vascular malformation located in the lip that is characterized by ectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis.


Arteriovenous malformation of the lip

description: A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus.


Venous malformation of the lip

description: A vascular malformation located in the lip that is related to abnormal vascular morphogenesis.


Hemangioma of the lip

description: A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia.


name: Mucinous cystic neoplasm of the pancreas

description: Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma.


Mucinous colorectal carcinoma

description: A subtype of colorectal carcinoma with mucin lakes.


Mucinous gastric carcinoma

description: A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor.


Appendiceal mucinous neoplasm

description: An epithelial neoplasm originating in the appendix and often associated with cystic dilation of the appendix due to accumulation of gelatinous material, morphologically referred to as mucoceles.


Abdominal mass

description: An abnormal enlargement or swelling in the abdomen.


Pelvic mass

description: An abnormal enlargement or swelling in the pelvic region.


Night gasping

description: Waking up at night gasping for breath.


Foamy urine

description: Urine has an increased amount of frothy fine bubbles.


Abnormal circulating T4 concentration

description: A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).


Increased circulating T4 concentration

description: An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).


Decreased circulating T4 concentration

description: A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).


name: Abnormal circulating thyroid hormone concentration

description: Any deviation from the normal range of the hormones produced by the thyroid gland.


Dry nipple

description: Abnormally dry skin in the area of the nipple of the breast.


Linear earlobe crease

description: A transverse linear fissure (crease) in the lobule of the ear.


Diagonal earlobe crease

description: Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees.


name: Abnormal cutaneous collagen fibril morphology


Luse bodies

description: Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands.


name: Increased proportion of exhausted T cells

description: An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells.


Abnormal meiosis

description: Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells.


Oocyte arrest at metaphase I

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


Absent posterior alpha rhythm

description: Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above.


name: Cauliflower deformity of dermal collagen fibrils

description: An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electron microscopy.


Groin pain

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


Vaginal clear cell adenocarcinoma

description: A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm.


Salivary gland oncocytoma

description: A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria)


Subretinal fluid

description: Edema/fluid accumulating between the retinal pigment epithelium and Bruch's membrane.


Intraretinal fluid

description: Edema/fluid accumulating within the retinal layers.


Subretinal deposits

description: Deposits accumulating between the outer retina and the retinal pigment epithelium.


Focal subretinal deposits

description: Deposits accumulating between the outer retina and the retinal pigment epithelium and that have a focal distribution.


Multifocal subretinal deposits

description: Deposits accumulating between the outer retina and the retinal pigment epithelium and that are distributed with multiple foci.


Sub-RPE deposits

description: Deposits accumulating between the retinal pigment epithelium and Bruch's membrane.


Focal sub-RPE deposits

description: Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in a single focus.


Multifocal sub-RPE deposits

description: Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in multiple foci.


name: Passive dorsiflexion of the 5th finger more than 90 degrees

description: An abnormally increased ability to bend (dorsiflex) one's fifth finger. To assess this feature, the examiner requests to proband to extend the elbows,to bend the wrist back so that it forms a ninety degree angle to the forearm, and to extend the fingers. Then, the proband is requested to bend the fifth finger back as far as is possible without discomfort. If the angle of the fifth finger exceeds 90 degrees, this is considered to be abnormal.


name: Increased theta frequency activity in EEG

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


name: Separate origin of the left anterior descending and left circumflex artery

description: Anomalous coronary origin whereby the left anterior descending (LAD) and the left circumflex artery (LCX) arise separately. Normally, these arteries arise from a common stem, the left main coronary artery (LMCA).


name: Anomalous origin of the left circumflex artery from the right coronary artery

description: An abnormal origin of the left circumflex artery (LCX) from the right coronary artery. Normally, the left anterior descending (LAD) and the LCX arise from a common stem, the left main coronary artery (LMCA).


name: Abnormal dermoepidermal junction morphology

description: Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments.


name: Linear IgA deposits along the epidermal basement membrane zone

description: Presence of IgA antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.


name: Linear IgG deposits along the epidermal basement membrane zone

description: Presence of IgG antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.


name: Linear C3 deposits along the epidermal basement membrane zone

description: Presence of complement C3 in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.


Myelin-like whorls in vacuolated fibers

description: Muscle fibers contain one or more vacuoles (membrane-bound cavity) associated with collections of membranes arranged in a whorl-like (spiral or circular) manner.


name: Elevated circulating palmitoleylcarnitine concentration

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


name: Abnormally low T cell receptor excision circle level

description: Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells.


Cardiac conduction abnormality

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


Abnormal QT interval

description: Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).


Abnormal flow cytometry test result

description: Any abnormal result of flow cytometry, a method that suspends cells in a stream of fluid and passes them through an electronic detection apparatus in order to assess cell count or measure biomarkers or surface molecules.


Reduced cell surface marker level

description: Reduced level of a protein that is normally present on the cell surface as assessed by flow cytometry.


Reduced fibroblast surface marker level

description: Reduced level of a protein that is normally present on the fibroblast surface as assessed by flow cytometry.


name: Reduced granulocyte surface marker level

description: Reduced level of a protein that is normally present on the granulocyte surface as assessed by flow cytometry.


Reduced granulocyte CD55 level

description: Reduced level of CD55 on the granulocyte surface as assessed by flow cytometry.


Reduced granulocyte CD59 level

description: Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry.


Reduced granulocyte CD16 level

description: Reduced level of CD16 on the granulocyte surface as assessed by flow cytometry.


Reduced fibroblast CD55 level

description: Reduced level of CD55 on the fibroblast surface as assessed by flow cytometry.


Reduced fibroblast CD59 level

description: Reduced level of CD59 on the fibroblast surface as assessed by flow cytometry.


Reduced fibroblast CD16 level

description: Reduced level of CD16 on the fibroblast surface as assessed by flow cytometry.


Coronary cameral fistula

description: An abnormal communication between coronary artery and a cardiac chamber.


name: Coronary cameral fistula to right ventricle

description: An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle.


Balanced double aortic arch

description: A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch.


Coronary arteriovenous fistula

description: An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation.


Bronchial isomerism

description: An anomalous mirror-imaged arrangement of some bronchial structures. Right isomerism is defined as a subset of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures (vice versa for left isomerism).


Abdominal situs ambiguus

description: An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements.


name: Abnormal pulmonary valve cusp morphology

description: Any structural anomaly of the pulmonary valve leaflets.


Abnormal aortic valve cusp morphology

description: Any structural anomaly of the aortic valve leaflets.


Thickened aortic valve cusp

description: An abnormally increased thickness of a leaflet of the aortic valve.


Absent aortic valve cusps

description: A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva.


Tessier number 0 facial cleft

description: A Number 0 Tessier cleft is a true median cleft lip with a broad columella and bifid nasal tip. The alveolar cleft is between the central incisors. The nasal septum may be thickened, duplicated, or absent. The nasal bridge is usually broad with associated orbital hypertelorism. The midline soft tissue anomaly may range from a mild broadening of the philtrum or there may be a true median cleft lip. The columella and nasal tip are typically bifid and broadened with a midline depression. The alae nasi are intact but laterally displaced. The nose appears shortened in the vertical dimension.


Paramedian facial cleft

description: A type of facial cleft located near to but not directly on the midline of the face.


Tessier number 1 facial cleft

description: As seen in a typical cleft lip, a cleft of the lip is found in the region of the cupid's bow. The nostril is cleft through the alar dome and extends above onto the nasal dorsum. It passes medial to a normal, but dys- topic, medial canthus. There is an alveolar cleft between the central and lateral incisors that extends above through the pyriform margin lateral to the anterior nasal spine; the nasal septum is not involved. The bony cleft extends through the nasal bone or between the junction of the nasal bone and frontal process of the maxilla. Above the cleft lip, the clefting of the alar dome is associated with deviation to the opposite side of the shortened and broadened columella and nasal tip. Extension of the soft tissue cleft onto the nasal dorsum can be manifest as a series of vertical soft tissue furrows and ridges. Vertical inner canthal dysto- pia and severe telecanthus mark the superior aspect of the Number 1 facial cleft. A cranial soft tissue extension characterized by a tongue-like projection of the frontal hairline delineates the number 13 cleft. Skeletal clefting of the maxilla may extend posteriorly to form a complete cleft of the hard and soft palate. The maxilla is hypoplastic in all three dimensions. There is a keel-shaped alveolus and anterior open bite. Normal septation is preserved between the nasal cavity and the hypoplastic maxillary antrum on the affected side. Distortion of the nasal skeleton produces gross flattening of the nasal dorsum. There is asymmetry of the pterygoid plates, of the greater and lesser wings of the sphenoid, and of the floor of the anterior cranial fossa. The distortion of the cranial base may result in a mild plagiocephaly.


Tessier number 2 facial cleft

description: As is typically seen in isolated cleft cases, a cleft of the lip is present. There is hypoplasia, but not true notching of the ala nasi with flattening of the lateral part of the nose. The nasal root is broadened, with lateral displacement of the inner canthus. The palpebral fissure and lacrimal drainage system are not disturbed. The alveolar cleft is through the lateral incisor area and extends to the pyriform aperture. There is normal septation between the nasal cavity and maxillary sinus. Notching at the junction between the nasal bone is present, as is a broad, flat frontal process of the maxilla. Transverse ethmoid enlargement produces orbital hypertelorism. Above the cleft of the lip and palate is a true broad cleft of the nostril that is medial to the intact, but laterally displaced, tail of the alar cartilage. A shallow soft tissue groove extends superiorly to the asymmetrically widened nasal root. The lacrimal system, palpebral fissures, and eyebrows remain intact. The alveolar cleft extends posteriorly as a complete unilateral cleft of the hard and soft palate. The nasal septum is intact but deviated to the opposite side. The nasal cavity remains separated from the normally pneumatized, although hypoplastic, maxilla on the cleft side. Above the nasomaxillary notching, the ethmoid sinus is less well developed, and there is no pneumatization of the frontal sinus on this side. Anterior rotation of the greater and lesser wings of the sphenoid occurs on the cleft side in relation to the narrower orbit and smaller ethmoid sinus. There is mild asymmetry of the anterior cranial fossa, which is narrower on the cleft side. The cranium is brachycephalic with marked occipital flattening.


Orbital cleft

description: A facial cleft characterized by involvement of the orbit.


Tessier number 3 facial cleft

description: As in the Number 1 and Number 2 clefts, this cleft extends through the lip in the region of the typical cleft lip; however, it does not extend through the base. The cleft continues superiorly to involve the inner canthus and lower eyelid medial to the inferior lacrimal punctum, thereby disrupting the nasolacrimal system. Microphthalmia may be present. The alveolar cleft is between the lateral incisor and the canine. Absent septation between the nasal cavity and maxillary antrum, together with the distortion of the frontal process of the maxilla and lacrimal fossa, produces direct communication between the orbit, maxillary sinus, and nose. There is hypoplasia of the soft tissue margins of the cleft in the vertical dimension. This produces extreme soft tissue deficiency between the alar base and the cleft of the medial aspect of the lower eyelid. The inferior lacrimal punctum is evident at the lateral margin of the lower eyelid cleft. The lacrimal drainage system ends as an opening directly onto the cheek without communication into the nasal cavity. The globe is normal in size, but it is displaced inferiorly and laterally. The nasal septum shows the characteristic distortion seen in typical cleft lip and palate. There is absence of septation between the nasal cavity on the cleft side and the maxilla. The maxilla is hypoplastic in three dimensions, with a marked reduction in pneumatization. Superior extension of the skeletal clefting into the medial portion of the orbital floor and into the inferior orbital rim in the region of the frontal process of the maxilla allows direct communication between the orbit above and the nasomaxillary region below. There is mild narrowing of the ethmoid sinus and of the body of the sphenoid on the cleft side. The pterygoid process appears anatomically normal, but less displaced from the midline compared with that of the noncleft side. Both the orbit and the floor of the anterior cranial fossa are inferiorly displaced.


Tessier number 4 facial cleft

description: The cleft lip is midway between the philtral ridge and the commissure of the mouth. The cleft is lateral to the normally shaped and placed nasal ala and passes onto the cheek. The cleft extends through the lower eyelid lateral to the punctum. The lacrimal system and inner canthus are normal. Microphthalmia may be present. The alveolar cleft passes between the lateral incisor and canine, as in the Number 3 cleft. The cleft passes around the pyriform aperture and continues through the portion of the maxillary sinus medial to the infraorbital foramen. The cleft terminates at the medial end of the inferior orbital rim. There is severe vertical soft tissue deficiency in a Number 4 cleft, with the medial margins of the cleft lip extending directly into the medially placed cleft of the lower eyelid. Within the medial segment of the right-sided cleft lip, muscle elements are apparently absent. Muscle bunching is noted in the ipsilateral lateral lip segment, as is seen in a typical unilateral cleft lip. The anatomically normal nasal ala is superiorly displaced in association with a severe deficiency in the overall nasal length. Marked dystopia of the right globe results in its inferior displacement into the medially deficient orbital floor and inferior rim. Both globes are otherwise normal. The complete palatal cleft passes through the maxilla medial to the infraorbital foramen and extends to the medial portion of the inferior orbital rim without evidence of an intact maxillary sinus. Bony septation persists medially, thereby separating the nasal cavity from the orbit, maxillary sinus, and mouth, which are contiguous. Marked midfacial hypoplasia is present. The cleft is manifest as asymmetry of the body of the sphenoid; it is smaller on the right, with asymmetric placement of the pterygoid plates relative to the midline. The orbital floor cleft has no communication with the inferior orbital fissure. The cleft does not extend to the skull base, but there is marked facial asymmetry associated with plagiocephaly.


Tessier number 5 facial cleft

description: The cleft of the lip is just medial to the oral commissure and extends across the cheek as a furrow. It ends as a cleft at the junction of the middle and lateral third of the lower eyelid. Microphthalmia is frequently present. The alveolar cleft is through the premolar region and extends superiorly through the orbit at the inferolateral part of the rim and floor. There is a vertical soft tissue deficiency between the lateral portion of the lip and the lower eyelid cleft. The left side of the nose shows vertical shortening, and the left alar base is displaced superiorly. Facial asymmetry secondary to the skeletal abnormality is reflected by a vertical orbital dystopia. However, bothglobes are normal, and there is no abnormality of the upper eyelids, eyebrow, forehead, or frontal hairline. The skeletal clefts vary, ranging from a narrow skeletal furrow that traverses the anterior maxillary wall as on the rightto a broad cleft of the maxilla lateral to the infraorbital foramen and maxillary sinus. This latter cleft enters the inferolateral orbital rim and floor without posterior communication with the inferior orbital fissure on the left side. Medial collapse of the lateral maxillary segments is present bilaterally, with reduction in the transverse dimensions of the maxillary arch. Manifestations of the skeletal disturbance in the sphenoid include a shortening and thickening of the lateral orbital walls in the region of the greater wing and mild asymmetric placement of the pterygoid plates relative to the midline. The right-sided pterygoid plates are smaller and closer to the midline. There is minimal asymmetry of the cranial base and calvarium.


Tessier number 6 facial cleft

description: A facial cleft extending from the zygomatic arch to the eye. This zygomaticomaxillary cleft is similar to that typically found in Treacher Collins syndrome. The overlying tissue shows a vertical sclerodermic furrow radiating from the labial commissure or the angle of the mandible across the cheek to a coloboma of the lower eyelid between the middle and lateral one-third. Microphthalmia is not observed. The skeletal cleft is between the maxilla and zygoma; it passes through the inferolateral orbital rim to enter the inferior orbital fissure. No alveolar cleft is present. The zygomatic arch is intact. The soft tissue furrow, which is more apparent on the right, radiates from the oral commissure toward the lateral two-thirds of the lower eyelid. The antimongoloid obliquity of the palpebral fissures is associated with laterally placed lower eyelid clefts and some ectropion. A left-sided anophthalmia is accompanied by adjacent soft tissue hypoplasia and is reflected in a short palpebral fissure, enophthalmos, and minor ptosis of the eyebrow. No abnormality is present in the alveolar arch except for some tilting of the occlusal plane secondary to hypoplasia of the left side of the maxilla. There is a vertical bony groove in the region of the zygomaticomaxillary suture that ends in the inferolateral portion of a small bony orbit. More laterally, the remainder of the zygomatic body and arch is normal in both shape and dimension. The lateral orbital floor is downslanting but intact, and it lacks direct communication with the temporal or infratemporal fossae. The hypoplasia of the left side of the maxilla and orbit is associated with a reduction in the transverse and anteroposterior dimensions of the anterior cranial fossa; mild asymmetry of the middle cranial fossa and calvarium is present. No significant asymmetry of size, shape, or position is present in the sphenoid.


Tessier number 7 facial cleft

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


Tessier number 8 facial cleft

description: The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ''Goldenhar syndrome''. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae.


Tessier number 9 facial cleft

description: This is an upper lateral orbital cleft. The soft tissue deformity is in the lateral one-third of the upper eyelid, and the bony cleft is through the superolateral orbital angle. Microphthalmia is present. The superolateral bony deficiency of the orbits allows a lateral displacement of the globes. The lateral one-third of the upper eyelid and the outer canthus are distorted, thus preventing apposition to the globe. The upper eyelid does not have a true cleft. A soft tissue furrow radiates superiorly and posterisphenoid is symmetric and normal. Mild cranial base asymmetry is reflected in the pterygoid plates. The left pair is more laterally displaced from the midline. Skull vault plagiocephaly is evident with an apparent reduction in the anteroposterior dimension of the anterior cranial fossa.


Tessier number 10 facial cleft

description: In a Number 10 Tessier cleft there is an upper central orbital cleft with a cleft of the middle one-third of the upper eyelid, which often results in total ablepharia. The eyebrow is disrupted, being virtually absent medially, whereas the lateral portion angles upward toward the frontal hairline. There may be ocular anomalies, including colobomata of the iris. The skeletal cleft is through the midportion of the supraorbital rim, the adjacent frontal bone, and the orbital roof lateral to the supraorbital nerve. A frontal encephalocele frequently occupies the frontal bony cleft. The palpebral fissure is grossly elongated with an amblyopic eye displaced inferiorly and laterally. There is also a divergent squint of the right eye. The eyebrow is deficient medially and becomes thinned out laterally , where it is contiguous with a broad downward and forward projection of the frontotemporal hairline (this may be seen in both the Number 9 and 10 clefts.) A broad frontal encephalocele bulges forward from the middle one-third of the right forehead, supraorbital ridge, and orbital roof. The bony cleft, through which the frontal encephalocele presents, involves the anterior half of the orbital roof, the supraorbital rim, and two-thirds of the vertical height of the frontal bone lateral to the supraorbital nerve. The bony orbit is inferiorly displaced and widened with the lateral orbital wall shortened and laterally deviated. Similar distortion of the anterior cranial fossa is evident, being broader and more flattened on the affected side. The calvarium above the level of the cleft and the cranial base below is symmetric.


Tessier number 11 facial cleft

description: An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal.


Tessier number 12 facial cleft

description: There is a soft tissue cleft medial to the inner canthus with a cleft of the root of the eyebrow. The frontal process of the maxilla is flat and broadened, and the ethmoid labyrinth is increased in tranverse dimension, thereby producing orbital hypertelorism. The cribriform plate is of normal width. The frontal sinus is enlarged. Even though the frontal bone is flattened, bony clefts with encephalocele have not been observed. There is a lateral displacement of the inner canthus with a mild thinning, aplasia, or irregularity of the medial end of the eyebrow. There are no eyelid clefts. The soft tissue contour of the forehead is normal, with only a short downward prolongation of the paramedian frontal hairline to mark the superior extent of the soft tissue cleft. Flattening of the frontal process of the maxilla, an increase in the transverse dimension of the ethmoid sinus, and a laterally convex bowing of the medial orbital wall produce orbital hypertelorism. Superiorly there is a minor flattening of the frontal bone medially, and the nasofrontal angle is somewhat obtuse. The extensive pneumatization of the sinuses on the cleft side extends backward through the frontal and ethmoid sinuses and into the sphenoid sinus. The anatomy of the sphenoid, including the pterygoid processes, is otherwise normal. The anterior and middle cranial fossae floors are both broadened on the cleft side with minor widening of the cribriform plate.


Tessier number 13 facial cleft

description: There is a paramedian frontal encephalocele and a soft tissue cleft that passes medial to an intact eyebrow. The frontal bone shows a paramedian bony cleft with an associated encephalocele. The olfactory groove, cribriform plate, and ethmoid sinus are all increased in transverse diameter, resulting in hypertelorism. The cleft extends medially to the undisturbed eyebrow to end in a short paramedian frontal widow's peak. The bony cleft begins in the region of the nasal bone and extends superiorly through the full height of the frontal bone. Posteriorly, the cleft extends through the cribriform plate and ethmoid sinus as far as the lesser wing and body of the sphenoid. The pterygoid processes are anatomically normal, but they are displaced laterally from the midline on the cleft side. There is orbital hypertelorism below and asymmetry of the floor of the anterior cranial fossa above.


Tessier number 14 facial cleft

description: This midline cranial cleft usually occurs with a midline facial cleft that completes a median craniofacial dysraphia. A broad nasal root and bifid nose are associated with orbital hypertelorism and a median frontal encephalocele. The frontal bone abnormality varies from a minor flattening to a large midline defect. There is an increased distance between the olfactory grooves. The crista galli is widened, duplicated, or in some cases absent. Marked inferior prolapse of the enlarged ethmoid bone occurs with orbital hypertelorism. The severe orbital hypertelorism is associated with a broad flattening of the glabella and extreme lateral displacement of the inner canthi. The periorbita, including the eyelids and eyebrows, are otherwise normal. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft. The median frontal defect delineates the region through which the frontal encephalocele herniates. The lateral segments of the frontal bone sweep upward from the region of the intact glabella and are flattened laterally. No pneumatization of the frontal sinus is evident. The crista galli and the perpendicular plate of the ethmoid are bifid. Just as the ethmoid, including the cribriform plate, is widened and caudally displaced, the sphenoid sinus is broadened and extensively, but symmetrically pneumatized. The lateral rotation of the greater and lesser wings of the sphenoid results in a relative shortening of the anteroposterior dimension of the middle cranial fossa. The floor of the anterior cranial fossa is upslanting from its medial aspect to its lateral aspect, with a harlequin appearance on the coronal scan.


Tessier number 30 facial cleft

description: A lower midline facial cleft, also known as the median mandibular cleft. It is a rare anomaly, which may be limited to a defect in the soft tissue of the lower lip. However, in the more severe form, it may extend into the bony mandibular symphysis.