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Acute Disease definition: Disease having a short and relatively severe course.
acute disease/disorder definition: disease or disorder which has a short and relatively severe course; post coordinate with specific disease or disorder if appropriate.
Addison's disease definition: disease characterized by hypotension, weight loss, anorexia, weakness, and sometimes a bronze-like melanotic hyperpigmentation of the skin; due to tuberculosis or autoimmune induced disease (hypofunction) of the adrenal glands that results in deficiency of aldosterone and cortisol.
Addison Disease definition: An adrenal disease characterized by the progressive destruction of the ADRENAL CORTEX, resulting in insufficient production of ALDOSTERONE and HYDROCORTISONE. Clinical symptoms include ANOREXIA; NAUSEA; WEIGHT LOSS; MUSCLE WEAKNESS; and HYPERPIGMENTATION of the SKIN due to increase in circulating levels of ACTH precursor hormone which stimulates MELANOCYTES.
Addison's Disease definition: A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary.
Adnexal Diseases definition: Diseases of the uterine appendages (ADNEXA UTERI) including diseases involving the OVARY, the FALLOPIAN TUBES, and ligaments of the uterus (BROAD LIGAMENT; ROUND LIGAMENT).
Adrenal Gland Diseases definition: Pathological processes of the ADRENAL GLANDS.
adrenal disorder definition: pathologic condition or abnormal functioning of either or both of the paired glands situated in the retroperitoneal tissues at the superior pole of the kidneys or adrenal glands.
Altitude Sickness definition: A morbid condition of ANOXIA caused by the reduced available oxygen at high altitudes.
Alzheimer Disease definition: A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)
Alzheimer's disease definition: neurodegenerative disorder of the CNS resulting in progressive loss of memory and intellectual functions; begins in the middle or later years; characterized by brain lesions such as neurofibrillary tangles and neuritic plaques.
Alzheimer syndrome definition: A disabling degenerative disease of the nervous system occurring in middle-aged or older persons and characterized by dementia and failure of memory for recent events, followed by total incapacitation and death. Types of the Alzheimer syndrome are differentiated by the age of onset and genetic characteristics. The early onset form (the mean age of the onset of symptoms between the ages of 40 and 60 years) and the late onset form (the onset of symptoms after the age of 60 years). Three forms are identified: AD-1, AD-2, AD-3. Some of the clinical characteristics of the Alzheimer syndrome are similar to those of the Pick syndrome.
Alzheimer's Disease definition: A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.
Amyloidosis definition: A group of sporadic, familial and/or inherited, degenerative, and infectious disease processes, linked by the common theme of abnormal protein folding and deposition of AMYLOID. As the amyloid deposits enlarge they displace normal tissue structures, causing disruption of function. Various signs and symptoms depend on the location and size of the deposits.
amyloidosis definition: any disease manifested by the pathogenic accumulation of amyloid in organs and tissues.
amyloidosis definition: A group of diseases in which protein is deposited in specific organs (localized amyloidosis) or throughout the body (systemic amyloidosis). Amyloidosis may be either primary (plasma cell neoplasm) or secondary (caused by a long standing infection or another disease or some types of cancer). Generally, primary amyloidosis affects the nerves, skin, tongue, joints, heart, and liver; secondary amyloidosis often affects the spleen, kidneys, liver, and adrenal glands.
Fabry Disease definition: An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.
Fabry's disease definition: x-linked lysosomal storage disease of glycosphingolipid catabolism, resulting from a deficiency of alpha-galactosidase A and leading to accumulation of ceramide trihexoside in the cardiovascular and renal systems.
Anthrax definition: An acute infection caused by the spore-forming bacteria BACILLUS ANTHRACIS. It commonly affects hoofed animals such as sheep and goats. Infection in humans often involves the skin (cutaneous anthrax), the lungs (inhalation anthrax), or the gastrointestinal tract. Anthrax is not contagious and can be treated with antibiotics.
anthrax definition: infectious bacterial zoonotic disease usually acquired by ingestion of Bacillus anthracis; marked by hemorrhage and serous effusions in the organs and cavities and symptoms of extreme prostration.
Aortic Diseases definition: Pathological processes involving any part of the AORTA.
aorta disorder definition: condition in which there is a deviation from or interruption of the normal structure or function of the aorta, which is the main trunk of the systemic arteries.
Arteriosclerosis definition: Thickening and loss of elasticity of the walls of ARTERIES of all sizes. There are many forms classified by the types of lesions and arteries involved, such as ATHEROSCLEROSIS with fatty lesions in the ARTERIAL INTIMA of medium and large muscular arteries.
arteriosclerosis definition: thickening and loss of elasticity of arterial walls; atherosclerosis is the most common form of arteriosclerosis and involves lipid deposition and thickening of the intimal cell layers within arteries; additional forms of arteriosclerosis involve calcification of the media of muscular arteries (Monkeberg medial calcific sclerosis) and thickening of the walls of small arteries or arterioles due to cell proliferation or hyaline deposition (arteriolosclerosis).
Border Disease definition: Congenital disorder of lambs caused by a virus closely related to or identical with certain strains of bovine viral diarrhea virus.
Borna Disease definition: An encephalomyelitis of horses, sheep and cattle caused by BORNA DISEASE VIRUS.
Bowen's Disease definition: A persistent progressive non-elevated red scaly or crusted plaque which is due to an intradermal carcinoma and is potentially malignant. Atypical squamous cells proliferate through the whole thickness of the epidermis. The lesions may occur anywhere on the skin surface or on mucosal surfaces. The cause most frequently found is trivalent arsenic compounds. Freezing, cauterization or diathermy coagulation is often effective. (From Rook et al., Textbook of Dermatology, 4th ed, pp2428-9)
Bowen's disease definition: (BO-uns disease) A skin disease marked by scaly or thickened patches on the skin and often caused by prolonged exposure to arsenic. The patches often occur on sun-exposed areas of the skin and in older, white men. These patches may become malignant (cancerous). Also called precancerous dermatosis or precancerous dermatitis.
Bowen Disease of the Skin definition: A form of squamous cell carcinoma in situ. It is a distinct clinicopathological entity and arises from the skin or the mucocutaneous junction. It affects predominantly white males in their 6-8th decades of life. Exposed and non-exposed skin sites are equally affected. UV damage and ingestion of inorganic arsenic may play a role in the development of the disease. On the skin surface, it presents as a single or multiple erythematous, scaly, keratotic patches or plaques. The clinical entity of erythroplasia of Queyrat is regarded as Bowen disease of the penis and it presents as an asymptomatic, red, circumscribed plaque. Morphologically, Bowen disease is characterized by the presence of hyperkeratosis, parakeratosis, dyskeratosis, and acanthosis. The keratotic squamous cells are atypical and display hyperchromatism and abnormal mitotic figures. The dermoepidermal basement membrane is intact. Complete surgical removal of the lesion may be curative.
Celiac Disease definition: A malabsorption syndrome that is precipitated by the ingestion of GLUTEN-containing foods, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION.
celiac disease definition: disease occurring in children and adults characterized by sensitivity to gluten, with chronic inflammation and atrophy of the mucosa of the upper small intestine; manifestations include diarrhea, malabsorption, steatorrhea, and nutritional and vitamin deficiencies.
Chronic Disease definition: Diseases which have one or more of the following characteristics: they are permanent, leave residual disability, are caused by nonreversible pathological alteration, require special training of the patient for rehabilitation, or may be expected to require a long period of supervision, observation, or care. (Dictionary of Health Services Management, 2d ed)
chronic disease/disorder definition: disease or disorder which has persisted over a long period of time; post coordinate with specific disease or disorder if appropriate.
Conjunctivitis, Acute Hemorrhagic definition: A highly contagious disease characterized by subconjunctival hemorrhage, sudden swelling of the eyelids and congestion, redness, and pain in the eye. Epidemic conjunctivitis caused by Enterovirus 70 (EV-70) was first described in Africa in 1969. It is caused also by Coxsackievirus A24 variant (CA24v). Epidemics by this organism have appeared most frequently in Asia.
Coronary Disease definition: An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels.
coronary disorder definition: imbalance between myocardial functional requirements and the capacity of the coronary vessels to supply sufficient blood flow.
Coronary Disease definition: Narrowing of the coronary arteries due to fatty deposits inside the arterial walls.
Crohn Disease definition: A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients.
Crohn's disease definition: gastrointestinal disorder characterized by chronic inflammatory infiltrates, fibrosis affecting all layers of the serosa, and development of noncaseating granulomas; most common site of involvement is the terminal ileum with the colon as the second most common.
Crohn's disease definition: Chronic inflammation of the gastrointestinal tract, most commonly the bowel. Crohn's disease increases the risk for colon cancer.
Crohn Disease definition: A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement. --2004
Disease definition: A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown.
Disease or Disorder definition: Any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person. The term is often used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function.
disease/disorder definition: top term heading for all specific disorders and diseases; a disease is a deviation from or interruption of the normal structure or function of any part, organ or system (or combination thereof) of the body that is manifested by a characteristic set of symptoms and signs; a disorder is a derangement or abnormality of function.
Disease Susceptibility definition: A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases.
disease/disorder proneness/risk definition: factors that affect the probability or predisposition of an individual to the development of a disease(s) or disorder(s).
Gaucher Disease definition: An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.
Gaucher's disease definition: autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase featuring the pathological storage of glycosylceramide in mononuclear phagocytes; the most common subtype is the non-neuronopathic form, a slowly progressive condition characterized by hepatosplenomegaly and skeletal deformities; the neuronopathic forms are divided into infantile and juvenile forms; the infantile form presents at 4-5 months of age with anemia, loss of cognitive gains, neck retraction, dysphagia, and hepatosplenomegaly; the juvenile form features a slowly progressive loss of intellect, hepatosplenomegaly, ataxia, myoclonic seizures, and spasticity; the neuronopathic forms are characterized by neuronal loss with neuronophagia, and accumulation of glucocerebroside in neurons.
Gilbert Disease definition: A benign familial disorder, transmitted as an autosomal dominant trait. It is characterized by low-grade chronic hyperbilirubinemia with considerable daily fluctuations of the bilirubin level.
Glycogen Storage Disease Type IV definition: An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.
glycogen storage disease type IV definition: autosomal recessive metabolic disorder due to a deficiency in expression of branching enzyme (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal glycogen with long outer branches; clinical features are muscle hypotonia and cirrhosis; death from liver disease usually occurs before age 2.
Graves' Disease definition: Hyperthyroidism associated with diffuse hyperplasia of the thyroid gland (goiter), resulting from production of antibodies that are directed against the thyrotropin receptor complex of the follicular epithelial cells. As a result, the thyroid gland enlarges and secrets increased amounts of thyroid hormones. --2004
Graves disease definition: exophthalmos occurring in association with goiter; hyperthyroidism with protrusion of the eyeballs.
Graves Disease definition: A common form of hyperthyroidism with a diffuse hyperplastic GOITER. It is an autoimmune disorder that produces antibodies against the THYROID STIMULATING HORMONE RECEPTOR. These autoantibodies activate the TSH receptor, thereby stimulating the THYROID GLAND and hypersecretion of THYROID HORMONES. These autoantibodies can also affect the eyes (GRAVES OPHTHALMOPATHY) and the skin (Graves dermopathy).
Hartnup Disease definition: An autosomal recessive disorder due to defective absorption of NEUTRAL AMINO ACIDS by both the intestine and the PROXIMAL RENAL TUBULES. The abnormal urinary loss of TRYPTOPHAN, a precursor of NIACIN, leads to a NICOTINAMIDE deficiency, PELLAGRA-like light-sensitive rash, CEREBELLAR ATAXIA, emotional instability, and aminoaciduria. Mutations involve the neurotransmitter transporter gene SLC6A19.
Hartnup disease definition: disorder of amino acid transport characterized by the childhood (or rarely adult) onset of photosensitive dermatitis and intermittent neurologic symptoms; ataxia, personality changes, migraine headaches, and photophobia may occur periodically; results from impaired sodium-dependent transport of neutral amino acids across the brush border membrane of the small intestine and renal tubular epithelium.
Heartwater Disease definition: A tick-borne septicemic disease of domestic and wild ruminants caused by EHRLICHIA RUMINANTIUM.
Hirschsprung Disease definition: Congenital MEGACOLON resulting from the absence of ganglion cells (aganglionosis) in a distal segment of the LARGE INTESTINE. The aganglionic segment is permanently contracted thus causing dilatation proximal to it. In most cases, the aganglionic segment is within the RECTUM and SIGMOID COLON.
congenital megacolon definition: abnormally large or dilated colon due to congenital absence of myenteric ganglion cells in a distal segment of the large bowel; resultant loss of motor function in this segment causes massive hypertrophic dilatation of the normal proximal colon; condition appears soon after birth; called also Hirschsprung's disease, aganglionic megacolon and pelvirectal achalasia.
Hodgkin Disease definition: A malignant disease characterized by progressive enlargement of the lymph nodes, spleen, and general lymphoid tissue. In the classical variant, giant usually multinucleate Hodgkin's and REED-STERNBERG CELLS are present; in the nodular lymphocyte predominant variant, lymphocytic and histiocytic cells are seen.
Hodgkin's disease definition: malignant disease characterized by progressive enlargement of the lymph nodes, spleen, and general lymphoid tissue, and the presence of large, usually multinucleate, cells (Reed-Sternberg cells) of unknown origin.
Hodgkin's disease definition: A malignant disease of the lymphatic system that is characterized by painless enlargement of lymph nodes, the spleen, or other lymphatic tissue. It is sometimes accompanied by symptoms such as fever, weight loss, fatigue, and night sweats.
Hodgkin Lymphoma definition: A lymphoma, previously known as Hodgkin's disease, characterized by the presence of Reed-Sternberg cells. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma has a bimodal age distribution, and involves primarily lymph nodes. Current therapy for Hodgkin lymphoma has resulted in an excellent outcome and cure for the majority of patients.
Huntington Disease definition: A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4)
Huntington's disease definition: chronic progressive chorea and mental deterioration terminating in dementia; the age of onset usually is in the fourth decade of life.
Iatrogenic Disease definition: Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by the patient during the course of treatment.
iatrogenic disease definition: adverse conditions occurring as the result of treatment by a health professional; especially infections acquired during the course of treatment.
Legionnaires' Disease definition: An acute, sometimes fatal, pneumonia-like bacterial infection characterized by high fever, malaise, muscle aches, respiratory disorders and headache. It is named for an outbreak at the 1976 Philadelphia convention of the American Legion.
Leigh Disease definition: A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).
Whipple Disease definition: A chronic systemic infection by a gram-positive bacterium, Tropheryma whippelii, mainly affecting the SMALL INTESTINE but also the JOINTS; CARDIOVASCULAR SYSTEM; and the CENTRAL NERVOUS SYSTEM. The disease is characterized by fat deposits in the INTESTINAL MUCOSA and LYMPH NODES, malabsorption, DIARRHEA with fatty stools, MALNUTRITION, and ARTHRITIS.
Lyme Disease definition: An infectious disease caused by a spirochete, BORRELIA BURGDORFERI, which is transmitted chiefly by Ixodes dammini (see IXODES) and pacificus ticks in the United States and Ixodes ricinis (see IXODES) in Europe. It is a disease with early and late cutaneous manifestations plus involvement of the nervous system, heart, eye, and joints in variable combinations. The disease was formerly known as Lyme arthritis and first discovered at Old Lyme, Connecticut.
Lyme disease definition: recurrent multisystemic infectious disease caused by a spirochete, Borrelia burgdorferi, which is transmitted chiefly by Ixodes ticks; it is a disease with early and late cutaneous manifestations plus involvement of the nervous system, heart, eye, and joints in variable combinations.
Borrelia Burgdorferi Infection definition: An infectious disease caused by the spirochete Borrelia burgdorferi. Early manifestations of infection may include fever, headache, fatigue, depression, and a characteristic skin rash called erythema migrans. Left untreated, late manifestations involving the joints, heart, and nervous system can occur.
Marek Disease definition: A transmissible viral disease of birds caused by avian herpesvirus 2 (HERPESVIRUS 2, GALLID) and other MARDIVIRUS. There is lymphoid cell infiltration or lymphomatous tumor formation in the peripheral nerves and gonads, but may also involve visceral organs, skin, muscle, and the eye.
Marek's disease definition: highly contagious virus disease of poultry that is characterized especially by proliferation of lymphoid cells and is caused by a herpesvirus having several serotypes.
Meniere's disease definition: fluctuating hearing loss, tinnitus, and vertigo resulting from nonsuppurative disease of the labyrinth; swelling of the endolymph-containing structures is the main pathologic finding.
Meniere Disease definition: A disease of the inner ear (LABYRINTH) that is characterized by fluctuating SENSORINEURAL HEARING LOSS; TINNITUS; episodic VERTIGO; and aural fullness. It is the most common form of endolymphatic hydrops.
Mikulicz' Disease definition: A chronic, benign, and usually painless inflammatory swelling of the lacrimal and salivary glands. It is considered by some to include the glandular enlargement associated with other diseases, such as Sjogren's syndrome, sarcoidosis, lupus erythematosus, etc.
Moyamoya Disease definition: A noninflammatory, progressive occlusion of the intracranial CAROTID ARTERIES and the formation of netlike collateral arteries arising from the CIRCLE OF WILLIS. Cerebral angiogram shows the puff-of-smoke (moyamoya) collaterals at the base of the brain. It is characterized by endothelial HYPERPLASIA and FIBROSIS with thickening of arterial walls. This disease primarily affects children but can also occur in adults.
Newcastle Disease definition: An acute febrile, contagious, viral disease of birds caused by an AVULAVIRUS called NEWCASTLE DISEASE VIRUS. It is characterized by respiratory and nervous symptoms in fowl and is transmissible to man causing a severe, but transient conjunctivitis.
Parkinson Disease definition: A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75)
Parkinson's disease definition: progressive, degenerative disorder of the nervous system characterized by tremors, rigidity, bradykinesia, postural instability, and gait abnormalities; caused by a loss of neurons and a decrease of dopamine in the basal ganglia.
Parkinson's disease definition: A progressive disorder of the nervous system marked by muscle tremors, muscle rigidity, decreased mobility, stooped posture, slow voluntary movements, and a mask-like facial expression.
Familial Mediterranean Fever definition: A group of HEREDITARY AUTOINFLAMMATION DISEASES, characterized by recurrent fever, abdominal pain, headache, rash, PLEURISY; and ARTHRITIS. ORCHITIS; benign MENINGITIS; and AMYLOIDOSIS may also occur. Homozygous or compound heterozygous mutations in marenostrin gene result in autosomal recessive transmission; simple heterozygous, autosomal dominant form of the disease.
Raynaud's disease definition: intermittent attacks of ischemia in the fingers, toes, ears, or nose, accompanied by pain, pallor, and prickling; phenomenon applies to secondary symptoms, disease when cause is unknown.
Raynaud Disease definition: An idiopathic vascular disorder characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or CYANOSIS in response to cold exposure or stress.
Refsum Disease definition: An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES.
Refsum disease definition: autosomal recessive disorder of lipid metabolism in which deficiency of phytanic acid alpha-hydroxylase results in accumulation of phytanic acid; manifested chiefly by chronic polyneuritis, retinitis pigmentosa, cerebellar ataxia and elevation of protein in cerebrospinal fluid.
Reiter's syndrome definition: triad of nongonococcal urethritis followed by conjunctivitis and arthritis.
Reiter Syndrome definition: Historically characterized by a triad of inflammation involving the eye (CONJUNCTIVITIS), the bone (POST-INFECTIOUS ARTHRITIS), and the urethra (URETHRITIS), it is now thought to be nearly synonymous with reactive arthritis.
Sandhoff Disease definition: An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE.
Sandhoff disease definition: autosomal inherited disease caused by deficiency of the enzymes hexosaminidase A and B which leads to an accumulation of GM2 ganglioside and the sphingolipid globoside in neurons and other organs; clinical manifestations resemble Tay-Sachs disease.
Scheuermann Disease definition: A type of juvenile osteochondrosis affecting the fibrocartilaginous disc (INTERVERTEBRAL DISK) in the thoracic or thoracolumbar region of the SPINE. It is characterized by a forward concave SPINAL CURVATURE or KYPHOSIS.
Tangier Disease definition: An autosomal recessively inherited disorder caused by mutation of ATP-BINDING CASSETTE TRANSPORTERS involved in cellular cholesterol removal (reverse-cholesterol transport). It is characterized by near absence of ALPHA-LIPOPROTEINS (high-density lipoproteins) in blood. The massive tissue deposition of cholesterol esters results in HEPATOMEGALY; SPLENOMEGALY; RETINITIS PIGMENTOSA; large orange tonsils; and often sensory POLYNEUROPATHY. The disorder was first found among inhabitants of Tangier Island in the Chesapeake Bay, MD.
Tangier disease definition: autosomal recessive disorder of lipoprotein and lipid metabolism characterized by absence in plasma of normal high-density lipoprotein, deficiency of apolipoproteins AI and AII, low to normal low-density lipoproteins, high triglycerides and accumulation in body tissues of cholesteryl esters.
Chagas Disease definition: Infection with the protozoan parasite TRYPANOSOMA CRUZI, a form of TRYPANOSOMIASIS endemic in Central and South America. It is named after the Brazilian physician Carlos Chagas, who discovered the parasite. Infection by the parasite (positive serologic result only) is distinguished from the clinical manifestations that develop years later, such as destruction of PARASYMPATHETIC GANGLIA; CHAGAS CARDIOMYOPATHY; and dysfunction of the ESOPHAGUS or COLON.
Weil Disease definition: A severe form of LEPTOSPIROSIS, usually caused by LEPTOSPIRA INTERROGANS SEROVAR ICTEROHAEMORRHAGIAE and occasionally other serovars. It is transmitted to humans by the rat and is characterized by hemorrhagic and renal symptoms with accompanying JAUNDICE.
Wolman Disease definition: The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE.
Wolman's disease definition: severe infantile form of inherited lysosomal lipid storage disease due to deficiency of acid lipase; results in accumulation of neutral lipids, particularly cholesterol esters, within cells.
Adrenoleukodystrophy definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS).
adrenoleukodystrophy definition: childhood genetic disease, transmitted as an X-linked recessive trait, characterized by diffuse abnormality of cerebral white matter and adrenal atrophy; mental deterioration progresses to dementia, aphasia, apraxia, dysarthria, and loss of vision.
Addison-Schilder syndrome definition: A syndrome combining the characteristics of adrenocortical insufficiency (Addison disease) with those of cerebral sclerosis (Schilder disease). Skin bronzing and sclerosis of the brain and demyelination are the principal manifestations.
Caroli Disease definition: Congenital cystic dilatation of the intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC). It consists of 2 types: simple Caroli disease is characterized by bile duct dilatation (ectasia) alone; and complex Caroli disease is characterized by bile duct dilatation with extensive hepatic fibrosis and portal hypertension (HYPERTENSION, PORTAL). Benign renal tubular ectasia is associated with both types of Caroli disease.
Canavan Disease definition: A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)
Ape Diseases definition: Diseases of chimpanzees, gorillas, and orangutans.
Disease Progression definition: The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.
Disease Progression definition: The worsening of a disease over time.
Alexander syndrome definition: A degenerative brain disease. Infantile type is characterized by a rapidly progressive course, seizures, psychomotor retardation, and hydrocephalus. Juvenile type is marked by a protracted course, bulbar palsy, ataxia, and sometimes mental retardation.
Alexander Disease definition: A rare inherited disorder of myelin formation. Alexander disease is a progressive leukoencephalopathy whose hallmark is the widespread accumulation of cytoplasmic inclusions called Rosenthal fibers. The fibers contain GLIAL FIBRILLARY ACIDIC PROTEIN in association with ALPHA-CRYSTALLIN B CHAIN. Rosenthal fibers are found predominantly in ASTROCYTES located in the subependymal, subpial, and periventricular areas of the BRAIN.
Goodpasture's syndrome definition: combination of pulmonary hemorrhage and glomerulonephritis; known also as the lung purpura glomerulonephritis complex; considered by some to be a form of hypersensitivity reaction.
Anti-Glomerular Basement Membrane Disease definition: An autoimmune disease of the KIDNEY and the LUNG. It is characterized by the presence of circulating autoantibodies targeting the epitopes in the non-collagenous domains of COLLAGEN TYPE IV in the basement membranes of kidney glomeruli (KIDNEY GLOMERULUS) and lung alveoli (PULMONARY ALVEOLI), and the subsequent destruction of these basement membranes. Clinical features include pulmonary alveolar hemorrhage and glomerulonephritis.
lymphomatous thyroiditis definition: progressive enlargement of the thyroid gland, often associated with hypothyroidism.
Hashimoto Disease definition: Chronic autoimmune thyroiditis, characterized by the presence of high serum thyroid AUTOANTIBODIES; GOITER; and HYPOTHYROIDISM.
Lafora Disease definition: A form of stimulus sensitive myoclonic epilepsy inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110)
Disease Attributes definition: Clinical characteristics of disease or illness.
Anderson syndrome definition: Intestinal fat transport defect with hypobetalipoproteinemia and accumulation of apolipoprotein B-like protein in intestinal cells, deficient blood apolipoproteins, and avitaminosis E manifested by malnutrition, steatorrhea, and growth and mental retardation. Some clinical (but not biochemical) manifestations may disappear later in life.
Arterial Disorder definition: An impairment of the structure or function of the blood vessels which carry blood away from the heart.
Glycogen Storage Disease Type IIb definition: An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and MENTAL RETARDATION. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2.
Autonomic Nervous System Diseases definition: Diseases of the parasympathetic or sympathetic divisions of the AUTONOMIC NERVOUS SYSTEM; which has components located in the CENTRAL NERVOUS SYSTEM and PERIPHERAL NERVOUS SYSTEM. Autonomic dysfunction may be associated with HYPOTHALAMIC DISEASES; BRAIN STEM disorders; SPINAL CORD DISEASES; and PERIPHERAL NERVOUS SYSTEM DISEASES. Manifestations include impairments of vegetative functions including the maintenance of BLOOD PRESSURE; HEART RATE; pupil function; SWEATING; REPRODUCTIVE AND URINARY PHYSIOLOGY; and DIGESTION.
autonomic disorder definition: condition in which there is a deviation from or interruption of the normal structure or function of the parasympathetic or sympathetic divisions of the autonomic nervous system; autonomic dysfunction may be associated with hypothalamic diseases, brain stem disorders, spinal cord diseases, and peripheral nervous system diseases; manifestations include impairments of vegetative functions including the maintenance of blood pressure, heart rate, pupil function, sweating, reproductive and urinary physiology, and digestion.
Disease_Has_Associated_Disease definition: Disease_Has_Associated_Disease is a non-defining role used to relate the concept of the disease to another disease or disorder, but without specification or limitation of the relationship (causality or timing for example). The domain and range of the disease concept is the Findings_and_Disorders_Kind. The value domain consists of the Diseases and Disorders subset within the Findings_and_Disorders_Kind.
disease definition: [1] die Krankheit
disease definition: Maladie, infirmité.
illness definition: Maladie.
illness definition: Perception personnelle d'un mauvais état de santé.
Krankheit definition: [1] die Störung oder Einschränkung der normalen körperlichen und/oder seelischen Funktionen [2] das Kranksein
Erkrankung definition: [1] eine Störung der körperlichen, kognitiven, sozialen und/oder seelischen Funktionen, die die Leistungsfähigkeit oder das Wohlbefinden eines Lebewesens subjektiv oder intersubjektiv deutlich wahrnehmbar negativ beeinflusst oder eine solche Beeinflussung erwarten lässt.
mein definition: [1] Krankheit
malaltia definition: [1] die Krankheit
liga definition: [1] Krankheit
maladie definition: Condition anormale du corps ou de l’esprit d’un être humain qui cause de l’inconfort ou du dysfonctionnement. Problème de santé chez un être vivant qui se traduit par une baisse des capacités physiques, de la fatigue (animaux) ou plus généralement par un dysfonctionnement, une altération, du métabolisme.
maladie definition: Affection excessive pour quelque chose, manie.
infirmité definition: Affection congénitale ou accidentelle qui gêne ou empêche le fonctionnement de telle ou telle partie de l’organisme.
infirmité definition: D’une manière plus générale, tant au propre qu’au figuré, Imperfection naturelle, défaut de force, faiblesse, fragilité pour le bien, défaut, imperfection.