Continuous diaphragm sign

description: This sign is seen in pneumomediastinum in which air accumulates between the lower border of the heart and the superior part of the diaphragm, which results in complete visualization of the diaphragm in chest X-ray, hence named continuous diaphragm sign.


Tree-in-bud pattern

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

description: The tree-in-bud pattern represents centrilobular branching structures that resemble a budding tree. The pattern reflects a spectrum of endo- and peribronchiolar disorders, including mucoid impaction, inflammation, and/or fibrosis (See Figure 70 of PMID:18195376).


Signet ring sign

description: This finding is composed of a ring-shaped opacity representing a dilated bronchus in cross section and a smaller adjacent opacity representing its pulmonary artery, with the combination resembling a signet (or pearl) ring. It is the basic sign of bronchiectasis in pulmonary computed tomography imaging.


Apical pulmonary opacity

description: An apical cap is a caplike lesion at the lung apex, usually caused by intrapulmonary and pleural fibrosis pulling down extrapleural fat or possibly by chronic ischemia resulting in hyaline plaque formation on the visceral pleura. The prevalence increases with age. It can also be seen in hematoma resulting from aortic rupture or in other fluid collection associated with infection or tumor, either outside the parietal pleura or loculated within the pleural space.


Parenchymal consolidation

description: Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia).


Flaky paint dermatosis

description: A dermatosis characterized by generalized shiny, enamel-like, hyperpigmented scales in an irregular pattern. The scales may peel or desquamate, rather like old, sun-baked blistered paint, often with areas of underlying hypopigmentation. This has led to the terms peeling paint or flaky paint dermatosis (See the Figure in PMID:24285001).


name: Abnormal circulating globulin concentration

description: An abnormal concentration of globulins in the blood. Albumin makes up more than half of the total protein present in serum. The remaining blood proteins except albumin and fibrinogen (which is not in serum) are referred to as globulins. The globulin fraction includes hundreds of serum proteins including carrier proteins, enzymes, complement, and immunoglobulins. Most of these are synthesized in the liver, although the immunoglobulins are synthesized by plasma cells. Globulins are divided into four groups by electrophoresis. The four fractions are alpha1, alpha2, beta and gamma, depending on their migratory pattern between the anode and the cathode.


name: Abnormal circulating metabolite concentration

description: An abnormal level of an analyte measured in the blood.


name: Anomalous hepatic venous drainage into the left atrium

description: An abnormality of the hepatic veins, which normally drain de-oxygenated blood from the liver into the inferior vena cava, whereby the hepatic veins drain into the left atrium.


Abnormal proportion of memory T cells

description: An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response.


Decreased proportion of memory T cells

description: An abnormally reduced proportion of memory T cells compared to the total number of T cells in the blood.


Increased proportion of memory T cells

description: An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood.


Disseminated molluscum contagiosum

description: The presense of molluscum contagiosum lesions across multiple areas of the body.


Anal intraepithelial neoplasia

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


name: Cellular hypersensitivity to mitomycin C

description: An increased cellular sensitivity to the DNA cross-linking agent, mitomycin C (MMC). In the presence of increased sensitivity, MMC causes increased cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle.


name: Cellular hypersensitivity to diepoxybutane

description: An increased cellular sensitivity to the DNA cross-linking agent, diepoxybutane (DEB). In the presence of increased sensitivity, DEB causes cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle.


Abnormal meniscus morphology

description: Abnormal structure of the meniscus of the knee, two crescent shape fibrocartilaginous pads that disperse the weight of the body and reduce friction of the knee joint during movement.


Torn meniscus

description: A tear in the cartilaginous pad (meniscus) of the knee.


name: Decreased low-density lipoprotein particle size

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


Abnormal S wave

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


Prominent S wave in lead I

description: Increased amplitude (0.1 mV or more) and/or duration (40 ms or more) of the S wave as measured in lead I of the electrocardiogram.


Deep S wave in lead V5

description: Abnormal depth of the S wave in lead V5 of the electrocardiogram.


Decreased prothrombin time

description: Abnormally short time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.


Abnormal prothrombin time

description: Any deviation from the normal amount of time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.


Perivascular fibrosis

description: The presence of thick collagen bundles around blood vessels, often in an onion-skin type whorling pattern.


Rotator cuff tear

description: The term rotator cuff describes the tendons connecting the infraspinatus, supraspinatus, teres minor, and subscapularis muscles to the humeral head.Traumatic tears of the rotator cuff tend to occur at the tendon-bone junction of the supraspinatus and greater tuberosity of the humerus whereas degenerative tears tend to be seen posteriorly at the junction of the supraspinatus and infraspinatu A rotator cuff tear is when one or more of these tendons tears or detaches from the humerus.


Lymphoid nodular hyperplasia

description: Lymphoid nodular hyperplasia (LNH) of the terminal ileum and colon has been considered a mucosal response to nonspecific stimuli, most often infections, and consequently has been regarded as a pathophysiologic phenomenon during infancy and childhood. LNH can be ascertained by colonoscopy, whereby a lymphoid nodule is defined as an extruding follicle with a diameter of not more than 2 mm, and LNH is defined as a cluster of not more than 10 of such extruding lymphoid nodules (see Figure 1 of PMID:17368236).


name: Chronic active Epstein-Barr virus infection

description: Chronic active Epstein-Barr virus (EBV) infection is an uncommon outcome of EBV infection and may present as a waxing and waning or fulminant syndrome. Unlike acute infectious mononucleosis, wherein EBV establishes lifelong infection and survives by maintaining a delicate balance with the host as a latent infection, in chronic active EBV infection the host-virus balance is disturbed.


Increased circulating galectin-3 level

description: An increased circulation of galectin-3 in the blood circulation.


name: Increased urinary type 1 collagen N-terminal telopeptide level

description: An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10 cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours.


name: Abnormal circulating free T3 concentration

description: A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3.


Decreased circulating free T3

description: A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.


Increased urinary epithelial cell count

description: An increased number of epithelial cells per high-power field in urinanalysis.


name: Increased urinary squamous epithelial cell count

description: An increased number of squamous epithelial cells per high-power field in urinanalysis.


name: Increased urinary renal tubular epithelial cell count

description: An increased number of renal tubular epithelial cells per high-power field in urinanalysis.


name: Increased urinary transitional epithelial cell count

description: An increased number of transitional epithelial cells per high-power field in urinanalysis.


Disseminated cutaneous warts

description: Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities.


name: Lymphocytic infiltration of the colorectal mucosa

description: Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy.


Indurated nodule

description: A skin nodule that is unusually hard (indurated).


name: Decreased proportion of CD4-positive T cells

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


name: Increased proportion of CD4-positive T cells

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


Interface hepatitis

description: Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma.


Periportal emperipolesis

description: The engulfing of lymphocytes by hepatocytes, which typically occurs in the interface hepatitis area.


Serrated intestinal polyps

description: The presence of multiple serrated polyps in the intestine. Unlike conventional adenomas, which are uniformly dysplastic, the vast majority of serrated lesions contain no dysplasia. The serrated class includes the hyperplastic polyps, which are not considered precancerous; sessile serrated polyps (also called sessile serrated adenomas); and traditional serrated adenomas. Sessile serrated polyps are larger on average and more often located in the proximal colon. Sessile serrated polyps have a more irregular surface, a pattern to the surface that has been called cloudlike, and indistinct edges compared with hyperplastic polyps. Sessile serrated polyps also have large open pits on the surface (type O pits) when viewed with magnification.


Perifollicular fibroma

description: Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle.


Abnormal sebaceous gland morphology

description: Any structural anomaly of the sebaceous glands.


Sebaceous hyperplasia

description: A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elsewhere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola.


Trichodiscoma

description: A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion.


name: Perinuclear antineutrophil antibody positivity

description: The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils.


name: Cytoplasmic antineutrophil antibody positivity

description: The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils.


Hypochromia

description: A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells.


name: Increased circulating creatine kinase MB isoform

description: An increased concentration of the MB isoform of creatine kinase in the blood circulation.


name: Increased circulating creatine kinase BB isoform

description: An increased concentration of the BB isoform of creatine kinase in the blood circulation.


name: Increased circulating creatine kinase MM isoform

description: An increased concentration of the MM isoform of creatine kinase in the blood circulation.


Anti-La/SS-B antibody positivity

description: The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens.


name: Increased circulating immature neutrophil count

description: An abnormally increased number of immature neutrophils in the peripheral blood circulation.


Increased circulating myelocyte count

description: The number of myelocytes in the peripheral blood circulation is above the upper limit of normal. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and secondary granules, and a nucleus:cytoplasm ratio of 2:1.


name: Increased circulating metamyelocyte count

description: The number of metamyelocytes in the peripheral blood circulation is above the upper limit of normal. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with secondary granules, and a nucleus:cytoplasm ratio of 1.5:1.


Increased circulating band cell count

description: The number of band cells in the peripheral blood circulation is above the upper limit of normal. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small secondary granules, and a nucleus:cytoplasm ratio of 1:2.


Elevated circulating E selectin level

description: An increased concentration of E selectin in the blood circulation.


Cervical neoplasm

description: A tumor (abnormal growth of tissue) of the uterine cervix.


name: Abnormal tissue metabolite concentration

description: Any deviation from the normal concentration of a metabolite in a tissue.


Decreased serum thromboxane B2

description: A reduction in the concentration of thromboxane B2 in the blood circulation.


Abnormal metabolism

description: An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products.


Persistent CMV viremia

description: Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation.


Persistent viremia

description: Persistence of virus in the blood circulation longer than would be normal in an immunocompetent host.


Granuloma

description: A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis.


name: Increased circulating copper concentration

description: An abnormally elevated concentration of copper in the blood circulation. This term refers to the total copper concentration.


Opportunistic fungal infection

description: An infection that is caused by a fungus that would generally not be able to cause an infection in a host with a normal immune system. Such fungi take advantage of the opportunity, so to speak, that is provided by a weakened immune system.


Disseminated histoplasmosis

description: Histoplasmosis infection involving multiple sites of the body. Disseminated histoplasmosis can involve various organs, including reticuloendothelial organs, gastrointestinal tract, adrenal glands, central nervous system, endovascular structures, kidney, and skin. It typically presents with systemic symptoms like fever, generalized fatigue, night sweats, weight loss, and the symptoms related to the specific organ involved. Severe disseminated disease can manifest as septic shock, multi organ failure, and ARDS.


Pulmonary histoplasmosis

description: Infection of the lungs with Histoplasma capsulatum. Symptoms may include fever, headache, weakness, chest pain and dry cough. When imaging is done, chest radiographs may show patchy pneumonia involving one or more lobes with adenopathy of the mediastinum or hilum.


Chronic tinea infection

description: The term tinea means fungal infection, whereas dermatophyte refers to the fungal organisms that cause tinea. This term refers to a tinea infection that is chronic or recalcitrant to treatment and may be reflective of an immune defect.


Opportunistic bacterial infection

description: An infection that is caused by a bacterium that would generally not be able to cause an infection in a host with a normal immune system. Such bacteria take advantage of the opportunity, so to speak, that is provided by a weakened immune system.


name: Nontuberculous mycobacterial pulmonary infection

description: An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease.


Increased blood pressure

description: Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension.


Anti-NMDA receptor antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor.


CSF autoimmune antibody positivity

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


name: CSF anti-NMDA receptor antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor.


Empty delta sign

description: This sign is created by a nonenhancing thrombus in the dural sinus surrounded by triangular enhancing dura as seen on cross-section. The sign, seen on contrast-enhanced CT scan images, suggests dural sinovenous thrombosis. It is best seen on wider window settings. It is a reliable sign of sinus thrombosis but is seen only in 25-30% of these cases.


Dural tail sign

description: This sign represents thickening and enhancement of the dura mater in continuity with a mass, which on MR images, gives the appearance of a tail arising from the mass. The dural tail is thought to represent reactive change; however, it may also be due to tumor invasion. Three criteria need to be met for a positive dural tail sign: the tail should be seen on two successive images through the tumor, it should taper away from the tumor, and it must enhance more than the tumor.


Lemon sign

description: The lemon sign refers to the shape of the fetal skull at ultrasonography (US) when the frontal bones lose their normal convex contour and appear flattened or inwardly scalloped. This gives the skull a shape that is said to resemble a lemon.. The sign is seen on transverse sonograms of the fetal cranium obtained at the level of the ventricles.


Optic nerve tram-track sign

description: A tram-track sign is composed of two enhancing areas of tumor separated from each other by the negative defect of the optic nerve. It is seen on contrast-enhanced CT scan and MRI images, in optic nerve sheath meningioma. The sign helps distinguish between optic nerve sheath meningioma and optic glioma. Optic glioma arises from glial cells within the optic nerve and there is no clear separation between the nerve and the tumor; hence the tram-track sign is not seen in optic gliomas. Calcification may be seen in optic nerve sheath meningiomas in 20-50% of cases and hence the tram-track sign may be seen on nonenhanced CT scan images as a linear calcification around the nerve, but this is less common.


name: Increased circulating N-acetylaspartic acid concentration

description: Concentration of N-acetylaspartic acid in the blood circulation above the upper limit of normal.


name: Increased CSF N-acetylaspartic acid concentration

description: An abnormally increased concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF).


Recurrent shingles

description: Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes.


Prominent subcalcaneal fat pad

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


2-hydroxyglutarate aciduria

description: The concentration of 2-hydroxyglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.


Abnormal base excess

description: Deviation from the normal quantity of base excess, defined as the amount of strong acid (in millimoles per liter) that needs to be added in vitro to 1 liter of fully oxygenated whole blood to return a blood sample to standard conditions (pH of 7.40, Pco2 of 40 mm Hg, and temperature of 37 degrees C).


name: Disseminated nontuberculous mycobacterial infection

description: An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease.


name: Ultra-low vision with retained motion projection

description: Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm).


name: Ultra-low vision with retained light projection

description: Ultra-low vision but with retained ability to perceive the difference between light and dark. Also when light is projected in each of the four quadrants of the visual field, the individual is able to correctly identify the origin of the light stimulus.


name: Ultra-low vision with retained light perception

description: Ultra-low vision but with retained ability to perceive the difference between light and dark.


name: Ultra-low vision with no light perception

description: Ultra-low vision with complete lack of light and form perception.


Polyclonal elevation of circulating IgG

description: An increase in polyclonal immunoglobulins resulting from many different plasma cells. On serum electrophoresis, a polyclonal gammopathy is characterized by a broad diffuse band with one or more heavy chains and kappa and lambda light chains.


name: Oligoclonal elevation of circulating IgG

description: An increase in circulating immunoglobulins characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.


Monoclonal elevation of IgG

description: An increase in circulating immunoglobulins characterized by a single band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.


Monoclonal elevation of intact IgG

description: A type of monoclonal elevation of IgG in which the involved immunoglobulin has a normal structure with a light and heavy chain.


Monoclonal elevation of IgG light chain

description: A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a light chain but not a heavy chain.


Monoclonal elevation of IgG heavy chain

description: A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a heavy chain but not a light chain.


Monoclonal elevation of IgG kappa chain

description: A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a kappa light chain but not a heavy chain.


name: Monoclonal elevation of IgG lambda chain

description: A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a lambda light chain but not a heavy chain.


Increased circulating IgG subclass

description: An elevation of circulating IgG level predominantly related to an elevation of one of the four IgG subclasses.


Increased circulating IgG3 level

description: An abnormally increased concentration of the IgG3 subtype in the blood circulation.


Increased circulating IgG1 level

description: An abnormally increased concentration of the IgG1 subtype in the blood circulation.


Increased circulating IgG2 level

description: An abnormally increased concentration of the IgG2 subtype in the blood circulation.


Increased circulating IgG4 level

description: An abnormally increased concentration of the IgG4 subtype in the blood circulation.


Kappa Bence Jones proteinuria

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


Lambda Bence Jones proteinuria

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


name: Abnormal circulating mannose-binding protein concentration

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


name: Decreased circulating mannose-binding protein concentration

description: Concentration of mannose-binding protein in the blood circulation below the lower limit of normal.


name: Increased circulating mannose-binding protein concentration

description: Concentration of mannose-binding protein in the blood circulation above the upper limit of normal.


name: Increased circulating procalcitonin concentration

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


Abnormal granulocyte count

description: Any deviation from the normal cell count per volume of granulocytes in the blood circulation.


Granulocytosis

description: An increased count of granulocytes in the peripheral blood circulation.


Increased circulating globulin level

description: An abnormally elevated concentration of globulins in the blood.


Decreased circulating globulin level

description: An abnormally reduced concentration of globulins in the blood.


Frontotemporal hypertrichosis

description: Excessive, increased hair growth located in the region of the forehead and temple.


Abnormal areolar morphology

description: An abnormal appearance or structure of the ring of pigmented skin that surrounds the nipple.


Areolar fullness

description: The areola (ring of pigmented skin surrounding the nipple) is filled out so as to produce a rounded shape.


Family history

description: Information about close relatives of an individual who is the proband of a study or who is being investigated with the goal of identifying a medical diagnosis. Usually, the family history includes information from three generations of relatives, including children, brothers and sisters, parents, aunts and uncles, nieces and nephews, grandparents, and cousins.


Family history of cancer

description: A close blood relative had cancer.


Family history of heart disease

description: A close blood relative had heart disease.


Periodic fever

description: Episodic fever that recurs at regular intervals.


Non-periodic recurrent fever

description: Episodic fever that recurs at irregular intervals.


Lacunar stroke

description: A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain.


name: Methicillin-resistant Staphylococcus aureus infection

description: Infection with staphylococcus aureus resistant to the antibiotic methicillin (MRSA). MRSA can infect any individual but is more common among hospitalized patients, and can also occur as an opportunistic infection.


Interhemispheric cyst

description: Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system.


Temporomandibular joint adhesion

description: Formation of one or more fibrous bands within the temporomandibular joint (TMJ) with resulting limitation of movement of the TMJ. Adhesions may be seen in degenerative processes that involve the TMJ.


name: Increased urinary 11-deoxycortisol level

description: An abnormally elevated concentration of 11-deoxycortisol in the urine.


name: Increased urinary 11-deoxycorticosterone level

description: An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine.


name: Increased urinary 11-deoxytetrahydrocorticosterone level

description: An abnormally elevated concentration or amount of 11-deoxytetrahydrocorticosterone the urine.


name: Oligoclonal elevation of circulating IgM

description: An increase in circulating IgM characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase.


Polyclonal elevation of circulating IgA

description: A heterogeneous increase in IgA mmunoglobulins characterized by a diffuse band on serum electrophoresis.


name: Oligoclonal elevation of circulating IgA

description: An increase in circulating IgA characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.


Monoclonal elevation of circulating IgA

description: An increase in circulating IgA characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.


name: Increased circulating specific IgE antibody


Monoclonal elevation of circulating IgE

description: An increase in circulating IgE characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.


name: Oligoclonal elevation of circulating IgE

description: An increase in circulating IgE characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.


Polyclonal elevation of circulating IgE

description: A heterogeneous increase in IgE mmunoglobulins characterized by a diffuse band on serum electrophoresis.


Reduced forced vital capacity

description: An abnormal reduction in the amount of air a person can expel following maximal inspiration.


name: Reduced forced expiratory volume in one second

description: An abnormal reduction in the amount of air a person can forcefully expel in one second.


Upslanting toenail

description: Upturned concavity of toenails.


Elevated cancer Ag 19-9 level

description: An abnormal increased in the amount of the carbohydrate antigen 19-9, a recognizable sialo-ganglioside in the blood circulation.


Cutaneous lichen amyloidosis

description: Lichen amyloidosis presents with multiple localized or rarely generalized, hyperpigmented grouped papules with a predilection for the shins, calves, ankles, and dorsa of the feet and thighs.


Cutaneous macular amyloidosis

description: A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance.


Serinuria

description: A increased concentration of serine in the urine.


Sulfocysteinuria

description: A increased concentration of sulfocysteine in the urine.


Phenylalaninuria

description: Increased level of phenylalanine in urine.


Methioninuria

description: Level of methionine in urine above the upper limit of normal.


Leucinuria

description: Increased level of leucine in urine.


Decreased peak expiratory flow

description: A reduction in the maximum expiratory flow per minute, which can be used to measure how fast a subject can exhale as well as to judge the strength of the expiratory muscles and the condition of the large airways.


name: Decreased pre-bronchodilator forced vital capacity

description: An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed before the administration of a bronchodilating medication.


name: Decreased post-bronchodilator forced vital capacity

description: An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed after the administration of a bronchodilating medication.


name: Decreased post-bronchodilator forced expiratory volume in one second

description: An abnormal reduction in the amount of air a person can forcefully expel in one second, with the test being performed after the administration of a bronchodilating medication.


Decreased forced expiratory flow 25-75%

description: A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled.


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

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


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

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


name: Increased circulating corticosterone level

description: An abnormally elevated concentration of corticosterone in the blood.


name: Decreased circulating corticosterone level

description: An abnormally reduced concentration of corticosterone in the blood.


Exacerbated by aspirin exposure

description: Applied to a sign or symptom that is worsened by ingestion of aspirin.


Positive direct antiglobulin test

description: A positive result of the direct antiglobulin test (DAT), a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction.


Abnormal growth hormone level

description: Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful.


Acidemia

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


Alkalemia

description: An abnormally high blood pH (usually defined as 7.41 or above).


Isoleucinuria

description: An increased concentration of isoleucine in the urine.


Increased peripheral blast count

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


Duffy blood group

description: The Duffy blood group system is based on the presence of a glycoprotein termed Fy that is on the surface of erythrocytes and some other cells. There are two Duffy antigens named Fya and Fyb, and thus there are four Duffy phenotypes: a+b+, a+b-, a-b+,a-b-.


Duffy Fya positivity

description: Presence of the Duffy Fya antigen.


Duffy Fyb positivity

description: Presence of the Duffy Fyb antigen.


name: Anti-beta 2 glycoprotein I antibody positivity

description: Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS).


Increased urinary orosomucoid

description: An increased concentration in the urine of alpha-1-acid glycoprotein (AGP), also known as orosomucoid (ORM). AGP is a 41-43-kDa glycoprotein with a pI of 2.8-3.8. AGP is an acute-phase protein that has many activities including, but not limited to, acting as an acute-phase reactant and disease marker, modulating immunity, binding and carrying drugs, maintaining the barrier function of capillary, and mediating the sphingolipid metabolism.


name: Immediate-type hypersensitivity drug reaction

description: Hypersensitivity that is observed within 1 hr of exposures. A variety of adverse reactions can occur within minutes to hours of exposure to a drug. Some can be related to the pharmacological action of the drug (WHO Adverse Reaction Terminology type A for augmented) and usually have a low mortality. Others are not readily predictable based on the structure and pharmacological action of the drug and have a relatively high mortality risk (Type B for bizarre). The most serious form of immediate onset drug hypersensitivity reaction, anaphylaxis. Other reactions including itching, dizziness/light-headedness, nausea, chest discomfort but without any objective skin features, physical signs or physiological compromise. Skin only reactions include generalized erythema, urticaria or angioedema without any sentinel features (see below) of other organ involvement.


name: Abnormal circulating transferrin concentration

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


name: Elevated circulating transferrin concentration

description: An abnormally increased concentration of transferrin in the blood circulation.


name: Reduced circulating transferrin concentration

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


Periventricular laminar heterotopia

description: A large mass of heterotopia in a laminar configuration along the ventricular walls. Usually bilateral.


Periventricular ribbonlike heterotopia

description: Heterotopia that forms a continuous wavy line along the ventricular wall.


Subcortical heterotopia

description: A form of heterotopia were the mislocalized gray matter is located deep within the white matter.


name: Nodular subcortical heterotopia in peritrigonal regions

description: Solid nodular heterotopia situated in the region of the peritrigonal optic pathway posterior to the deep gray nuclei.


name: Diffuse ribbon-like subcortical heterotopia

description: Subcortical heterotopia consisting of a bilateral and symmetric single continuous, undulating ribbon-like layer of gray matter located in the frontal, parietal and occipital lobes. It has no visible connection to the overlying cortex.


name: Mesial parasagittal subcortical heterotopia

description: Subcortical heterotopia extending along the mesial aspect of the lateral ventricles, with direct connection to mesial polymicrogyria-like cortex at the anterior and posterior limits of the heterotopia.


Curvilinear subcortical heterotopia

description: Large subcortical heterotopia of variable morphology wiht streaks and swirls. These always connect to the overlying cortex in at least one, but usually in multiple, locations. Spaces with the signal intensity of CSF are usually seen within the heterotopia.


Transmantle columnar heterotopia

description: Linear heterotopia spanning from the cerebral mantle from the pia to the ependyma.


Citrullinuria

description: An increased concentration of citrulline in the urine.


Dysgyria

description: An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation.


Dysgyria with normal cortical thickness

description: An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation but with a normal thickness of the cortex.


Dysgyria with thickened cortex

description: An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation and a thickened cortex intermediate between pachygyria and polymicrogyria.


Aspartic aciduria

description: A increased concentration of aspartic acid in the urine.


Asparaginuria

description: An increased concentration of asparagine in the urine.


Testicular mass

description: An abnormal bulge or lump in a testis. A testicular mass has a long differential diagnosis including testicular torsion, epididymitis, acute orchitis, strangulated hernia and testicular cancer.


Increased urinary phosphoserine level

description: An increased level of phosphoserine in the urine.


Unilateral perisylvian polymicrogyria

description: A type of perisylvian polymicrogyria that largely affects one side of the brain.


Breast mass

description: A breast lump is any discrete mass in a breast noticed by the patient, significant other, or physician.


name: Posterior predominant subcortical band heterotopia

description: Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the occipital cortex.


name: Anterior predominant subcortical band heterotopia

description: Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible in the frontal and temporal lobes.


Diffuse subcortical band heterotopia

description: Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the whole brain.


description: Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex.


Periglomerular fibrosis

description: Circumferential fibrosis in the interstitium surrounding Bowman's capsule


Abnormal HDL subfraction concentration

description: An abnormal concentration of an HDL subfraction, which can be determined by methods such as electrophoresis followed by densitometric determination of the areas under the peaks. Large HDL subfractions are defined as HDL1 (greater than 12 nm), HDL2b (9.7-12 nm), and HDL2a (8.8-9.69 nm). Small HDL subfractions are defined as HDL3a (8.2-8.79 nm), HDL3b (7.8-8.19 nm), and HDL3c (7.20-7.79 nm).


Abnormal HDL2a concentration

description: Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2a particle is defined as an HDL particle with a size of 8.80-9.69 nm.


Increased HDL2a concentration

description: An elevation above the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2a particle is defined as an HDL particle with a size of 8.80-9.69 nm.


Decreased HDL2a concentration

description: A reduction below the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2a particle is defined as an HDL particle with a size of 8.80-9.69 nm.


Abnormal HDL2b concentration

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


Decreased HDL2b concentration

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


Increased HDL2b concentration

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


Abnormal HDL3a concentration

description: Any deviation from the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.


Abnormal HDL3b concentration

description: Any deviation from the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.


Abnormal HDL3c concentration

description: Any deviation from the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.


Increased HDL3a concentration

description: An elevation above the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.


Decreased HDL3a concentration

description: A reduction below the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.


Increased HDL3b concentration

description: An elevation above the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.


Decreased HDL3b concentration

description: A reduction below the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.


Increased HDL3c concentration

description: An elevation above the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.


Decreased HDL3c concentration

description: A reduction below the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.


Delayed umbilical cord separation

description: Separation of the umbilical cord occurs at an abnormally late timepoint.


name: Abnormal circulating C-reactive protein concentration

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


name: Reduced circulating C-reactive protein concecntration

description: An abnormal decrease of the C-reactive protein level in serum.


Platelet anisocytosis

description: Abnormally increased variability in the size of platelets.


Airborn particle hypersensitivity

description: An abnormally increased sensitivity to airborn particles. This can be diagnosed on the basis of the medical history, taking into account seasonality or a relationship to the concentration of airborn particles in the environment of the affected individual. Aerosol challenge is a gold standard of establishment of the symptom. There exist particle hypersensitivity (diesel exhaust, metals, inorganic material) vs. allergen (including pollen dander, etc) hypersensitivity. The responses are usually different and testing for allergen hypersensitivity is done in concert with serum IgE and or skin testing to the suspected allergen.


Past medical history

description: In a medical encounter, the physician generally will interview the patient about his or her current problem, and may perform additional testing. The past medical history (PMH) in contrast records information about the patient's medical, personal and family history that might be relevant to the presenting illness or to provide optimal clinical management. The PMH generally includes (if relevant) other major illnesses, hospitalizations, surgeries, injuries, allergies, gynecologic and obstetric history, family history, personal history including occupational history, alcohol and drug use, etc.


Status post organ transplantation

description: The affected individual has received an organ transplant previous to the current medical encounter.


Pulmonary cyst

description: A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid.


Pulmonary bulla

description: Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema.


Pulmonary bleb

description: A bleb is a small gas-containing space within the visceral pleura or in the subpleural lung, not larger than 1 cm in diameter. CT findings show a bleb as a thin-walled cystic air space contiguous with the pleura.


name: Abnormal dermoepidermal hemidesmosome morphology

description: An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane.


Positive blood arsenic test

description: Detection of arsenic in the blood circulation.


Oral melanotic macule

description: Flat, distinct, discolored area of oral mucosal membrane less than 1 cm wide not associated with a change in the thickness or texture of the affected mucosal membrane. The lesions are small, solitary, well-circumscribed and often uniformly pigmented.


Oral melanoacanthoma

description: Oral melanoacanthoma usually presents as an asymptomatic, ill-defined, rapidly enlarging, macular pigmentation. Although most lesions are heavily pigmented, the coloration may or may not be uniform. Any mucosal site may be affected, but buccal mucosal involvement is most common. Although typically solitary, rare patients may present with multifocal lesions.


Abnormal lip pigmentation

description: Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal.


Labial melanotic macule

description: Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture.


Reduced granulocyte CD18 level

description: Reduced level of CD18 on the granulocyte surface. This feature can be assessed by flow cytometry.


Unlayered lissencephaly

description: A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and gray matter.


2-3-layered lissencephaly

description: Pachygyria-agyria spectrum whereby at neuropathological examination the cortical plate consists of a two-three layered organization made up of a molecular layer, a relatively thin wavy layer with a higher cellular density and a third layer with lower cellularity.


Narrowing of medullary canal

description: A reduction in diameter and volume of the central cavity of bone where red or yellow bone marrow is located.


name: Abnormal phosphoribosylpyrophosphate synthetase level

description: Any deviation from the normal level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.


name: Decreased phosphoribosylpyrophosphate synthetase level

description: Abnormally reduced level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.


Increased circulating palmitate level

description: An elevation beyond the normal concentration of palmitate (palmitic acid) in the blood circulation.


Reduced circulating fibronectin level

description: A reduction below the normal concentration of fibronectin the the blood circulation.


Ureteral hypoplasia

description: Underdevelopment of the ureter.


Bladder trabeculation

description: Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface.


Aplasia of the olfactory bulb

description: Lack of formation (congenital absence) of the olfactory bulb.


Past obstetric history

description: Information about past pregnancies including gravidity (number of times a woman has been pregnant, regardless of the outcome), parity (total number of births), gestational age of births, and medical conditions related to past pregnancies.


History of stillbirth

description: One or more previous pregnancies resulted in stillbirth, defined as death of a fetus in the later stages of pregnancy (definitions in the literature vary, with cut-offs ranging from 20 to 28 weeks gestation).


name: Anti-asialoglycoprotein receptor antibody positivity

description: Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation.


Focal polymicrogyria

description: Polymicrogyria affecting one or multiple small areas of the cerebral cortex.


Abnormal urine urobilinogen level

description: An abnormal concentration of urobilinogen in the urine.


Decreased urine urobilinogen

description: An abnormally reduced concentration of urobilinogen in the urine.


name: Abnormal circulating vitamin B6 concentration

description: An abnormal concentration of vitamin B6 in the blood circulation.


name: Elevated circulating vitamin B6 concentration

description: An abnormally increased concentration of vitamin B6 in the blood circulation.


Lateral spinal meningocele

description: Protrusion of the arachnoid and dura through spinal foramina.


Preimplantation lethality

description: It is estimated that about 40-70 percent of human embryos produced in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are viable embryos, whereas others arrest at different early stages of development. The phenotype of preimplantation lethality is inferred if IVF and ICSI cycles fail because all of an individual's embryos are arrested at early stages of development.


name: Abnormal pituitary glycoprotein hormone alpha subunit level

description: Any deviation from the normal concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081).


name: Decreased pituitary glycoprotein hormone alpha subunit level

description: An reduced concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081).


Elevated fecal sodium

description: An elevated concentration of sodium in feces.


Abnormal fecal osmolality

description: Abnormal concentration of feces as assessed by the total number of solute particles per kilogram.


Elevated fecal osmolality

description: Abnormally high concentration of feces as assessed by the total number of solute particles per kilogram.


Reduced fecal osmolality

description: Abnormally low concentration of feces as assessed by the total number of solute particles per kilogram.


Abnormal fecal pH

description: Any deviation from the normal pH of feces. The pH reflects the acidity or alkalinity of a solution on a logarithmic scale on which 7 is neutral, whereby lower values are more acid and higher values more alkaline.


Elevated fecal pH

description: Abnormally high fecal pH, i.e., abnormal alkalinity of feces.


Decreased fecal pH

description: Abnormally low fecal pH, i.e., abnormal acidity of feces.


name: Increased circulating argininosuccinic acid

description: An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation.


name: Anti-myelin oligodendrocyte glycoprotein antibody positivity

description: Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein.


Increased circulating trypsinogen

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


Abnormal terminal:vellus ratio

description: A deviation from the normal proportion of terminal to vellus hairs.


Elevated terminal:vellus ratio

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


Reduced terminal:vellus ratio

description: A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia.


Giant neutrophil granules

description: The presence of abnormally large granules in neutrophils. This finding can be appreciated on a peripheral blood smear. The finding is characteristic of Chediak Higashi syndrome. The giant granules are derived from azurophil granules, whereas peroxidase-negative granules are not involved in their formation.


Exacerbated by tobacco use

description: Applied to a sign or symptom that is worsened by smoking tobacco products.


name: Exacerbated by contraceptive medication exposure

description: Applied to a sign or symptom that is worsened by taking contraceptive medication.


Exacerbated by barbiturate exposure

description: Applied to a sign or symptom that is worsened by taking barbituates.


Lhermitte's sign

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


Hydrophobia

description: The word hydrophobia has been used to describe the avoidance of drinking in the presence of hydrophobic spasms that can be observed in human rabies (described as a blockage in the throat with worsening of dyspnea). However, rarely, the same word has been used to describe panic reactions observed in a patient when offered a glass of water. This term does not refer to the latter meaning.


Alien limb phenomenon

description: Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb.


Labiomental fasciculations

description: Fasciculations affecting the tongue muscle and the musculature of the chin.


Polyembolokoilamania

description: Habitual insertion of foreign bodies into bodily orifices.


Onychotillomania

description: Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails.


Tendon pain

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


Superiorly positioned umbilicus

description: The position of the umbilicus (belly button) is abnormally high (superior).


Four-vessel umbilical cord

description: Four-vessel umbilical cord containing two arteries and two veins.


Supernumerary lacrimal punctum

description: A congenital developmental anomaly characterized by the presence of an additional lacrimal punctum in an eyelid.


Invasive dermatophyte infection

description: Infection that extends deeply into the dermis by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails.


Disseminated dermatophytosis

description: A type of invasive dermatophyte infection characterized by vascular involvement and dissemination to other organs.


Increased Burr cell count

description: Burr cells, also known as echinocytes, have a speculated border over the entire cell surface. Burr cells are commonly found in both end-stage renal disease and liver disease. Small numbers of Burr cells are commonly found in healthy individuals.


Masseter muscular weakness

description: Reduced strength of the masseter muscle, whose primary function is to elevate the mandible and thereby raise the mandible towards the maxilla, closing the jaw.


Self hugging

description: Involuntary, tic-like movements consisted of crossing both arms across the chest and tensing the body or clasping the hands and squeezing the arms to the sides. The movements last a few seconds and may occur in series or flurries, generally accompanied by facial grimacing and occasional grunting.


Tendon thickening

description: An abnormal increase in the thickness (diameter) of a tendon.


Long thumb

description: Length of the thumb is greater than normal.


name: Exacerbated by acetylcholinesterase inhibitor exposure

description: Applied to a sign or symptom that is worsened by treatment with an acetylcholinesterase inhibitor such as tensilon (edrophonium) or pyridostigmine (Mestinon).


Inferiorly positioned umbilicus

description: The position of the umbilicus (belly button) is abnormally low (inferior).


Elevated urinary 4-hydroxybutyric acid

description: An increased amount of 4-hydroxybutyric acid in the urine.


name: Decreased tissue succinic semialdehyde dehydrogenase activity

description: Reduced level of succinic semialdehyde dehydrogenase (SSADH).


name: Elevated CSF gamma-aminobutyric acid concentration


name: Elevated CSF 4-hydroxybutyric acid concentration

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


name: Elevated circulating acetone concentration

description: An increased level of acetone in the blood circulation. Acetone is one of the predominant ketone bodies.


Exacerbated by methylxanthine ingestion

description: Applied to a sign or symptom that is worsened by ingestion of food containing a methylxanthine compound (for instance, coffee, caffeine, chocolate).


Increased number of lymph nodes

description: An abnormally elevated number of lymph nodes in an anatomical region.


Delayed fracture healing

description: A delay in healing of a fracture past the expected duration.


Pretibial dimple

description: A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lengthen as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg.


Exacerbated by pregnancy

description: Applied to a sign or symptom that is worsened by being pregnant.


Lithoptysis

description: Expectoration (coughing up) of a broncholith. Broncholithiasis is defined as the presence of calculi in the tracheobronchial tree. It is a rare disease but can be characterized by clinical and radiological findings of a calcified lymph node eroding bronchial wall and opening into the bronchial lumen.


Abdominal rigidity

description: Involuntary tightening of the abdominal musculature that occurs in response to touching the abdomen to avoid pain. Rigidity can occur in the presence of abdominal inflammation and usually involves only the inflamed area.


Abdominal guarding

description: A voluntary contraction of the abdominal wall musculature to avoid pain.


Increased placental thickness

description: Abnormally elevated placental thickness.


name: Persistent asymmetrical tonic neck reflex

description: Persistence beyond the normal age (roughly the first half of the first year of life) of the asymmetric tonic neck reflex (ATNR), which is an easily elicited primitive reflex in the immediate newborn period. The ATNR refers to the phenomenon whereby when the face of an infant is turned to one side, the ipsilateral arm and leg extend and the contralateral arm and leg flex. This posture has been compared to a typical posture of fencers.


Howell-Jolly bodies

description: Howell-Jolly bodies are small, intra-erythrocytic remnants of erythrocyte nuclei. These inclusions are solitary in each erythrocyte and strongly basophilic. These are often confused with overlying platelets, but can be distinguished by the presence of a halo around overlying platelets.


Abnormal pulse

description: An anomaly of the rhythmic throbbing of an artery that reflects the widening of the artery as blood flows through it and is caused by successive contractions of the heart.


Weak pulse

description: A diminution in the amplitude (strength) of the pulse such that the examiner has difficulty feeling the pulse.


Absent pulse

description: The pulsation of an artery where the pulse is taken (e.g. the radial artery at the wrist) cannot be detected on physical examination.


Bounding pulse

description: Increased amplitude (strength) of the pulse.


Circumoral cyanosis

description: Persistent blue color of the skin that surrounds the mouth.


History of bone marrow transplant

description: A past medical history of hematopoietic stem cell transplantation involving myeloablative chemoradiotherapy followed by stem cell rescue with autologous or human leukocyte antigen (HLA)-matched stem cells derived from a donor.


Absent sperm flagella

description: Sperm cells lacking flagella.


Short sperm flagella

description: Sperm cells with abnormally short flagella.


Coiled sperm flagella

description: Sperm cells whose flagella are twisted (coiled).


Microcephalic sperm head

description: Decreased size of the head of sperm.


Tapered sperm head

description: Sperm with cigar-shaped heads that gradually dimish in diameter (taper).


Dacryocytosis

description: Presence of teardrop-shaped red blood cells.


Oval macrocytosis

description: Enlarged, oval-shaped erythrocytes (red blood cells).


Lipiduria

description: An increased lipid content in the urine.


Urinary mulberry cells

description: Distal tubular epithelial cells in which globotriaosylceramide (Gb3) has accumulated. they are the characteristic feature of Fabry disease. Urinary mulberry bodies are a component of mulberry cells that can be distinguished easily from fat particles by their inner lamellar appearance.


Temporal bossing

description: Prominence (bulging) in the temple region, which is the part of the skull where the frontal, parietal, temporal, and sphenoid bones join on the side of the head.


Pontine ischemic lacunes

description: Lacunes are infarcts less than 15 mm in diameter in the cortical white matter or in the corona radiata, internal capsule, centrum semiovale, thalamus, basal ganglia, or pons.


Increased oocyte death

description: An increase in death of oocytes, the female germ cell (egg cell), which can be observed clinically in the setting of in vitro fertilization.


name: Abnormal urinary nucleobase concentration

description: A deviation from the normal level of a nucleobase in the urine. Nucleobases are nitrogen-containing biological compounds that form nucleosides: adenine (A), cytosine (C), guanine (G), thymine (T), and uracil (U).


Elevated urinary cytidine

description: Increased levels of urinary cytidine, a pyrimidine nucleoside in which cytosine is attached to ribofuranose via a beta-N1 glycosidic bond.


Elevated urinary uridine level

description: Increased levels of urinary uridine, a ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N1 glycosidic bond.


Decreased circulating 12-HETE

description: A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid.


name: Intracellular accumulation of Dol-PP-GlcNAc2Man5

description: Intracellular accumulation of the lipid-linked oligosaccharide intermediate Man5GlcNAc2-PP-dolichol.


Clonal T cell receptor rearrangement

description: Presence of a predominant T cell clone. In PCR-based assays, this finding is inferred on the basis of one or two prominent bands within a valid size range. In NGS-based assays, this finding is inferred on the basis of a high number of reads that map to a single T cell receptor clone.


Vascular hamartoma

description: A benign focal growth composed of vascular tissue.


Abnormal bulbus cordis morphology

description: Abnormal structure of the bulbus cordis, which is the single outflow tract of the heart during early embryogenesis.


Abnormal renal insterstitial morphology

description: Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid.


Renal interstitial foam cells

description: Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles.


name: Renal interstitial neutrophil infiltration

description: Increased numbers of neutrophils in the interstitial tissues of the kidney.


name: Renal interstitial eosinophil infiltration

description: Increased numbers of eosinophils in the interstitial tissues of the kidney.


name: Renal interstitial plasma cell infiltration

description: Increased numbers of plasma cells in the interstitial tissues of the kidney.


Renal interstitial calcium oxalate

description: The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney.


Hand apraxia

description: Inability to perform purposeful (learned) movements with the hand upon command, even though the command is understood and there is a willingness to perform the movement. Hand apraxia includes the inability to grasp, pick up, and hold large and small objects.


Renal lymphocytic tubulitis

description: Infiltration of the renal tubular epithelium by lymphocytes.


Renal neutrophilic tubulitis

description: Infiltration of the renal tubular epithelium by neutrophils.


Renal interstitial hemosiderin

description: Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney.


Aplasia of the right hemidiaphragm

description: Congenital absence of the right-sided diaphragm.


Myoglobin casts

description: A type of acelluar casts with positive myoglobin staining A 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.


name: Renal tubular basement membrane denudation

description: Naked basement membranes without tubular epithelium.


name: Renal tubular epithelial cell detachment

description: Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved.


name: Renal tubular epithelial cell cytoplasmic vacuolization

description: Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size.


Renal tubular epithelial cell sloughing

description: At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast.


name: Blebbing of apical cytoplasm of renal tubular epithelial cells

description: Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule.


name: Abnormal renal tubular epithelial morphology

description: Any structural anomaly of the renal tubular epithelial cells (RTEC), a layer of cells in the outer layer of the renal tubule. These cells play a role in the absorption of substances such as glucose and amino from the primary urine.


name: Renal tubular epithelial cell hyaline droplets

description: Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell.


name: Multinucleation of renal tubular epithelial cells

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


name: Prominent nucleoli of renal tubular epithelial cells

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


name: Renal tubular epithelial cell simplification

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


Renal tubular epithelial cell mitosis

description: Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration.


name: High renal tubular epithelial cell N/C ratio

description: At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei.


Renal tubular epithelial lipofuscin

description: Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules.


Renal tubular epithelial cell swelling

description: Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen.


Thyroidization-type tubular atrophy

description: A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts.


Endocrine-type tubular atrophy

description: A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes.


description: Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation.


name: Renal tubular epithelial cell hemosiderin

description: Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment.


Triphalangeal hallux

description: A hallux (big toe) with three phalanges in a single, proximo-distal axis.


Renal interstitial amyloid deposits

description: Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation.


Renal glomerular amyloid deposition

description: Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries.


name: Abnormal diffusion weighted cerebral MRI morphology

description: A diffusion abnormality observed in diffusion-weighted magnetic resonance imaging (MRI) of the brain. Molecular diffusion refers to the notion that any type of molecule in a fluid (eg, water) is randomly displaced as the molecule is agitated by thermal energy. Restricted diffusion of water appears bright on diffusion-weighted images.


name: Renal interstitial immunoglobulin deposits

description: Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining).


Renal interstitial hemorrhage

description: A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core.


Renal necrosis

description: Cell death (necrosis) affecting one or more parts of the kidney.


Perinephric abscess

description: A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney).


Intrarenal abscess

description: An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis.


name: Hyperchromasia of renal tubular epithelial cells

description: At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes.


Tubular luminal dilatation

description: Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen.


Renal intratubular casts

description: Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. This term refers to casts located within the tubuli of the kidney. More precisely, casts are defined as a material that completely fills and expands the tubular lumen with simplification of surrounding tubular epithelium. Casts are classified as either nuclear debris/granular brown material, red blood cell, white blood cell, myeloma, or myoglobin cast.


Intratubular bilirubin casts

description: A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On H&E (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green).


Intratubular erythrocyte cast

description: Casts that contain red blood cells and are located within the tubuli of the kidney.


Intratubular vancomycin casts

description: Intratubular casts composed of vancomycin aggregates and uromodulin.


Intratubular leukocyte casts

description: Casts that contain white blood cells and are located within the tubuli of the kidney.


Intratubular dihydroxyadenuria crystals

description: Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver.


Intratubular light-chain casts

description: The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules.


Intratubular hemoglobin casts

description: A type of acelluar intratubular 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. On H&E (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A.


Intratubular hyaline casts

description: A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a 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.


Intratubular myoglobin cast

description: Casts located within the tubuli of the kidney and that contain myoglobin. Myoglobin casts are composed of round granules that may line up in chains or aggregate in clusters. Their color ranges from pink to red-brown with hematoxylin and eosin stain, light brown to black with Jones methenamine silver stain, pink to bright magenta with periodic acid-Schiff stain, and bright red with trichrome stain. Immunoperoxidase staining with antibody to myoglobin is stronglypositive in the casts.Electron microscopy shows globular casts with an electron-dense core and a somewhat less-intense periphery. Substructure is absent. This feature may be accompanied by acute tubular injury with variable flattening of tubular epithelial cells, loss of brush borders, and intratubular sloughed epithelial cells.


description: Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain.


Tubulointerstitial viral infiltration

description: Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry.


Renal interstitial edema

description: Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density.


Elevated urine mevalonic acid level

description: An abnormally increased amount of mevanolate in the urine. Mevanolate is that hydroxy monocarboxylic acid anion that is the conjugate base of mevalonic acid.


Elevated leukocyte cystine

description: An increased concentration of cystine within white blood cells.


Elevated circulating CCL18 level

description: An increased concentration of C-C motif chemokine ligand 18 in the blood circulation.


Renal interstitial granulomas

description: Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present.


name: Renal interstitial necrotizing granulomas

description: An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation.


name: Renal interstitial non-necrotizing granulomas

description: Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis.


Renal interstitial deposits

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


name: Renal interstitial mononuclear cell infiltration

description: Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei).


name: Renal interstitial xanthogranulomatous inflammation

description: Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells.


Renal tubular epithelial cell apoptosis

description: Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris.


Tubularization of Bowman capsule

description: The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus.


Skewfoot

description: A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occur under the metatarsal heads and the head of the plantar-flexed talus.


name: Elevated CSF glial fibrillary acidic protein concentration

description: Increased concentration of glial fibrillary acidic protein in cerebrospinal fluid.


name: Elevated CSF chitinase-3-like protein 1 concentration

description: Increased concentration of chitinase-3-like protein 1 in cerebrospinal fluid.


name: Elevated CSF chitotriosidase 1 concentration

description: Increased concentration of chitotriosidase 1 in cerebrospinal fluid.


Elevated lactate:pyruvate ratio

description: An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation.


name: Decreased adipose tissue tocopherol level

description: A reduced concentration of tocopherol in fat tissue.


Febrile status epilepticus

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


name: Elevated circulating lyso-globotriaosylsphingosine concentration

description: An abnormal increase in the level of globotriaosylsphingosine (Lyso-Gb3) in the blood circulation.


name: Status epilepticus with prominent motor symptoms

description: Status epilepticus with prominent motor signs during the prolonged seizure.


name: Non-convulsive status epilepticus with coma

description: A type of status epilepticus without prominent motor symptoms and in the presence of coma.


Convulsive status epilepticus

description: A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between.


name: Generalized convulsive status epilepticus

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


name: Focal-onset seizure evolving into bilateral convulsive status epilepticus

description: A type of bilateral convulsive seizure of focal onset (which could be with awareness or impaired awareness, either motor or non- motor) that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus.


Focal motor status epilepticus

description: Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.


Adversive status epilepticus

description: A type of focal motor status epilepticus characterized by continuous neck or body rotation and conjugate gaze deviation in a direction contralateral to the responsible epileptic focus. This includes some forms of tonic status epilepticus.


Repeated focal motor seizures

description: A type of focal motor status epilepticus characterized by repeated motor, typically clonic events repeatedly affecting the same segments of the body with spread of clonic movements through contiguous body parts unilaterally, and repeating over a sufficiently prolonged period to reach a diagnosis of status epilepticus.


Hyperkinetic status epilepticus

description: Status epilepticus characterized by continuous hyperkinetic proximal limb or axial muscles producing irregular sequential ballistic movements such as pedaling pelvic thrusting, thrashing, or rocking movements.


Myoclonic status epilepticus

description: A type of motor status epilepticus with repeating bilateral sudden brief (less than 100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography.


name: Myoclonic status epilepticus without coma

description: A type of myoclonic status epilepticus in the absence of coma.


Myoclonic status epilepticus with coma

description: A type of myoclonic status epilepticus in the presence of coma.


Tonic status epilepticus

description: Tonic status epilepticus is a type of status epilepticus characterized by focal or bilateral limb stiffening or elevation, which may be electrographically generalized or focal.


name: Non-convulsive status epilepticus without coma

description: A type of status epilepticus without prominent motor symptoms in the absence of coma.


Autonomic status epilepticus

description: Autonomic status epilepticus is a type of non-convulsive status epilepticus without coma with prominent autonomic features regardless of whether it is electrographically generalized or focal.


description: Focal non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically focal. It is a prolonged focal non-motor seizure.


Cutaneous wound

description: A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occurs owing to an injury of the skin. Wound healing is a dynamic, interactive process involving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time.


Acute cutaneous wound

description: A cutaneous wound that is proceeding through an orderly and timely reparative process that results in sustained restoration of the anatomic and functional integrity of the skin.


Chronic cutaneous wound

description: A cutaneous wound that has failed to proceed through the orderly and timely process to produce an atomic and functional integrity, or proceeded through the repair process without establishing a sustained anatomic and functional result.


Generalized-onset motor seizure

description: A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.


Eyelid myoclonia seizure

description: An eyelid myoclonia seizure is a type of generalized myoclonic seizure which may or may not be associated with loss of awareness.


Focal non-motor seizure

description: A type of focal-onset seizure characterized by non-motor signs or symptoms (or behavior arrest) as its initial semiological manifestation.


Focal cognitive seizure

description: A focal cognitive seizure involves an alteration in a cognitive function (which can be a deficit or a positive phenomenon such as forced thought), which occurs at seizure onset. To be classified as a focal cognitive seizure, the change in cognitive function should be specific and out of proportion to other relatively unimpaired aspects of cognition, because all cognition is impaired in a focal impaired awareness seizure.


Focal aware cognitive seizure

description: A focal aware cognitive seizure during which awareness is retained throughout the seizure.


Focal aware non-motor seizure

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


name: Focal aware cognitive seizure with auditory agnosia

description: A focal cognitive seizure with auditory agnosia characterized by retained awareness throughout the seizure.


name: Focal cognitive seizure with auditory agnosia

description: A focal cognitive seizure characterized by auditory agnosia as the initial semiological manifestation. For example a person may hear a ringing sound, but may not connect this with the concept that the sound is from a telephone ringing.


name: Focal aware cognitive seizure with memory impairment

description: A focal cognitive seizure with memory impairment characterized by retained awareness throughout the seizure.


name: Focal cognitive seizure with memory impairment

description: A focal cognitive seizure characterized by transient memory impairment as the initial semiological manifestation whilst other cognitive functions and awareness are preserved at seizure onset. The memory impairment may be an inability to recall events occurring prior to the seizure (retrograde amnesia), or failure to encode new memories for events occurring during the seizure (anterograde amnesia).


name: Focal aware cognitive seizure with dissociation

description: A focal cognitive seizure with dissociation characterized by retained awareness throughout the seizure.


name: Focal cognitive seizure with dissociation

description: A focal cognitive seizure characterized by an experience of being disconnected from, though aware of, self or environment as the initial semiological manifestation.


name: Focal aware cognitive seizure with dyscalculia/acalculia

description: A focal cognitive seizure with dyscalculia and or acalculia characterized by retained awareness throughout the seizure.


name: Focal cognitive seizure with dyscalculia/acalculia

description: A focal cognitive seizure characterized by dyscalculia / acalculia as the initial semiological manifestation.


name: Focal cognitive seizure with forced thinking

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


Focal cognitive seizure with neglect

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


name: Focal cognitive seizure with dyslexia/alexia

description: A focal cognitive seizure characterized by dyslexia / alexia as the initial semiological manifestation.


name: Focal cognitive seizure with receptive dysphasia/aphasia

description: A focal cognitive seizure characterized by receptive dysphasia / aphasia as the initial semiological manifestation.


name: Focal cognitive seizure with conduction dysphasia/aphasia

description: A focal cognitive seizure characterized by conduction dysphasia / aphasia as the initial semiological manifestation.


name: Focal cognitive seizure with dysgraphia/agraphia

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


name: Focal cognitive seizure with left-right confusion

description: A focal cognitive seizure characterized by left-right confusion as the initial semiological manifestation.


Focal cognitive seizure with anomia

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


name: Focal cognitive seizure with expressive dysphasia/aphasia

description: A focal cognitive seizure characterized by expressive dysphasia / aphasia as the initial semiological manifestation.


name: Focal aware cognitive seizure with illusion

description: A focal cognitive seizure with illusion characterized by retained awareness throughout the seizure.


name: Focal aware cognitive seizure with forced thinking

description: A focal cognitive seizure with forced thinking characterized by retained awareness throughout the seizure.


name: Focal aware cognitive seizure with left-right confusion

description: A focal cognitive seizure with left-right confusion characterized by retained awareness throughout the seizure.


name: Focal aware cognitive seizure with dyslexia/alexia

description: A focal cognitive seizure with dyslexia / alexia characterized by retained awareness throughout the seizure.


name: Focal aware cognitive seizure with anomia

description: A focal cognitive seizure with anomia characterized by retained awareness throughout the seizure.


name: Focal aware cognitive seizure with dysgraphia/agraphia

description: A focal cognitive seizure with dysgraphia / agraphia characterized by retained awareness throughout the seizure.


name: Focal aware cognitive seizure with receptive dysphasia/aphasia

description: A focal cognitive seizure with receptive dysphasia / aphasia characterized by retained awareness throughout the seizure.


Focal aware clonic seizure

description: A type of focal clonic seizure during which awareness is fully retained throughout.


Focal impaired awareness motor seizure

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


name: Focal impaired awareness motor seizure with version

description: A focal motor seizure with version characterized by impaired awareness at some point during the seizure.