Terminology Service < Semantic Lookup Platform

All terms in MESHD

Label	Id	Description
Arcus Senilis	D001112	[A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera.]
Turner Syndrome	D014424	[A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant., This syndrome that was originally observed by Ullrich, and designated as identical to TURNER SYNDROME, related the webbing of the neck, loose skin and other anomalies of the syndrome to accumulation of fluid in the embryo starting at the head and dispersing to the extremities (as observed by Bonnevie in mice). Commonly observed at birth in Turner Syndrome and NOONAN SYNDROME; EDEMA of the extremities usually recedes by one year and is an early sign of Turner syndrome, especially in female neonates.]
Celiac Disease	D002446	[A malabsorption syndrome that is precipitated by the ingestion of foods containing GLUTEN, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION.]
Mucocutaneous Lymph Node Syndrome	D009080	[An acute, febrile, mucocutaneous condition accompanied by swelling of cervical lymph nodes in infants and young children. The principal symptoms are fever, congestion of the ocular conjunctivae, reddening of the lips and oral cavity, protuberance of tongue papillae, and edema or erythema of the extremities.]
Mucolipidoses	D009081	[A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)]
Mucopolysaccharidosis III	D009084	[Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme.]
Mucopolysaccharidosis IV	D009085	[Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme.]
Mucopolysaccharidosis VI	D009087	[Mucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-ACETYLGALACTOSAMINE-4-SULFATASE (arylsulfatase B).]
Humeral Fractures	D006810	[Fractures of the HUMERUS.]
Typhus, Epidemic Louse-Borne	D014438	[The classic form of typhus, caused by RICKETTSIA PROWAZEKII, which is transmitted from man to man by the louse Pediculus humanus corporis. This disease is characterized by the sudden onset of intense headache, malaise, and generalized myalgia followed by the formation of a macular skin eruption and vascular and neurologic disturbances.]
Dental Pulp Calcification	D003784	[CALCINOSIS of the DENTAL PULP or ROOT CANAL.]
Typhus, Endemic Flea-Borne	D014437	[An infectious disease clinically similar to epidemic louse-borne typhus (TYPHUS, EPIDEMIC LOUSE-BORNE), but caused by RICKETTSIA TYPHI, which is transmitted from rat to man by the rat flea, XENOPSYLLA CHEOPIS.]
Typhoid Fever	D014435	[An acute systemic febrile infection caused by SALMONELLA TYPHI, a serotype of SALMONELLA ENTERICA.]
Spherocytosis, Hereditary	D013103	[A group of familial congenital hemolytic anemias characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. The erythrocytes have increased osmotic fragility and are abnormally permeable to sodium ions.]
Dental Pulp Exposure	D003789	[The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment.]
Argyria	D001129	[A permanent ashen-gray discoloration of the skin, conjunctiva, and internal organs resulting from long-continued use of silver salts. (Dorland, 27th ed)]
Hyaline Membrane Disease	D006819	[A respiratory distress syndrome in newborn infants, usually premature infants with insufficient PULMONARY SURFACTANTS. The disease is characterized by the formation of a HYALINE-like membrane lining the terminal respiratory airspaces (PULMONARY ALVEOLI) and subsequent collapse of the lung (PULMONARY ATELECTASIS).]
Huntington Disease	D006816	[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)]
Mucormycosis	D009091	[Infection in humans and animals caused by any fungus in the order Mucorales (e.g., Absidia, Mucor, Rhizopus etc.) There are many clinical types associated with infection of the central nervous system, lung, gastrointestinal tract, skin, orbit and paranasal sinuses. In humans, it usually occurs as an opportunistic infection in patients with a chronic debilitating disease, particularly uncontrolled diabetes, or who are receiving immunosuppressive agents. (From Dorland, 28th ed)]
Cauda Equina Syndrome	D000077684	[Compressive lesion affecting the nerve roots of the CAUDA EQUINA (e.g., compression, herniation, inflammation, rupture, or stenosis), which controls the function of the bladder and bowel. Symptoms may include neurological dysfunction of bladder or bowels, loss of sexual sensation and altered sensation or paralysis in the lower extremities.]