| ¿µ¹® | hypoparathyroidism | ÇÑ±Û | ºÎ°©»ó»ù±â´ÉÀúÇÏÁõ |
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| HSM Syndrome | juvenile-familial Endocrinopathy Hypoparathyroidism Addison's Disease Menillansis |
|---|---|
| FIH | familial isolated hypoparathyroidism; fat-induced hyperglycemia |
| HAM | hearing aid microphone; helical axis in motion; human albumin microsphere; human alveolar macrophage... |
| IHP | idiopathic hypoparathyroidism; idiopathic hypopituitarism; individualized health plan; inositol hexa... |
| FHH | Familial Hypocalciuric Hypercalcemia = Familial Benign Hypercalcemia |
| PHP | Pseudo-hypoparathyroidism |
|---|---|
| IHP | idiopathic hypoparathyroidism |
| BFNC | Benign Familial Neonatal Convulsions |
| FAD | Familial Alzheimer's disease |
| FALS | Familial ALS |
familial leiomyomatosis cutis et uteri (°¡Á·¼º ÇǺΠÀڱà ±ÙÁ¾Áõ
| hypoparathyroidism | <endocrinology> A term which describes the abnormally low production of parathyroid hormone by the parathyroid glands. Hypoparathyroidism may be congenital or occur in association with another disorder (autoimmune disease, haemochromatosis). Common symptoms are those of low blood calcium: muscle spasms, tetany, facial grimacing, laryngeal spasm and seizures. (11 Jan 1998) |
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| hypoparathyroidism syndrome | <syndrome> A syndrome characterised by fatigue, muscular weakness, paresthesia and cramps of the extremities, tetany, and laryngeal stridor; due to hypocalcaemia resulting from a lack of parathyroid hormone; may be idiopathic, postoperative, or caused by organic lesions of the parathyroids. (05 Mar 2000) |
| idiopathic hypoparathyroidism | <radiology> Rare condition of unknown cause, round face; short dwarf-like; obese, mental retardation, cataracts, dry scaly skin; atrophy of nails, dental hypoplasia (delayed tooth eruption, impaction of teeth, supernumerary teeth) see: hypoparathyroidism (12 Dec 1998) |
| immunodeficiency with hypoparathyroidism | diGeorge syndrome |
| benign familial chorea | A rare, nonprogressive movement disorder characterised by chorea and athetosis appearing in early childhood, most commonly manifested as gait ataxia and upper limb coordination. Intellect is unaffected. Probably autosomal-dominance inheritance with incomplete penetrance. (05 Mar 2000) |
| benign familial chronic pemphigus | Recurrent eruption of vesicles and bullae that become scaling and crusted lesions with vesicular borders, predominantly of the neck, groin, and axillary regions; autosomal dominant inheritance, presenting in late adolescence or early adult life. Synonym: Hailey-Hailey disease. (05 Mar 2000) |
| benign familial icterus | Mild jaundice due to increased amounts of unconjugated bilirubin in the plasma without evidence of liver damage, biliary obstruction, or haemolysis; thought to be due to an inborn error of metabolism in which the excretion of bilirubin by the liver is defective, ascribed to decreased conjugation of bilirubin as a glucuronide or impaired uptake of hepatic bilirubin. Synonym: benign familial icterus, constitutional hepatic dysfunction, Gilbert's disease, Gilbert's syndrome, Hebra's disease. (05 Mar 2000) |
| cancer, breast, familial | A number of factors have been identified that increase the risk of breast cancer. One of the strongest of these risk factors is the history of breast cancer in a relative. About 15-20% of women with breast cancer have such a family history of the disease, clearly reflecting the participation of inherited (genetic) components in the development of some breast cancers. Dominant breast cancer suceptibility genes, including BRCA1 and BRCA2, appear responsible for about 5% of all breast cancer. (12 Dec 1998) |
| paralysis, familial periodic | An autosomal dominant trait marked by recurring attacks of rapidly progressive flaccid paralysis. There are three types: I, associated with a fall in serum potassium levels (hypokalaemic periodic paralysis); II, associated with a rise therein (hyperkalaemic periodic paralysis, called also adynamia episodica hereditaria); and III, with normal levels (normokalaemic periodic paralysis). (12 Dec 1998) |
| pemphigus, benign familial | Rare hereditary disease characterised by recurrent eruptions of vesicles and bullae mainly on the neck, axillae, and groin. It exhibits autosomal dominant inheritance and is unrelated to pemphigus vulgaris though it closely resembles that disease. (12 Dec 1998) |
| chronic familial icterus | <haematology> A hereditary disorder that leads to a chronic haemolytic anaemia due to an abnormality in the red blood cell membrane. This disorder is caused by a defective gene. Red cells are resistant to stress and rupture easily. Infants may appear jaundiced and pale. Fatigue, weakness and shortness of breath are other symptoms that may be seen in older patients. The spleen may also be enlarged. Treatment includes splenectomy (removal of the spleen). After this is accomplished the life-span of the red blood cells returns to normal. (27 Sep 1997) |
| chronic familial jaundice | <haematology> A hereditary disorder that leads to a chronic haemolytic anaemia due to an abnormality in the red blood cell membrane. This disorder is caused by a defective gene. Red cells are resistant to stress and rupture easily. Infants may appear jaundiced and pale. Fatigue, weakness and shortness of breath are other symptoms that may be seen in older patients. The spleen may also be enlarged. Treatment includes splenectomy (removal of the spleen). After this is accomplished the life-span of the red blood cells returns to normal. (27 Sep 1997) |
| chronic familial polyneuritis | Inflammation of nerves related to infiltration by amyloid. (05 Mar 2000) |
| mixed hyperlipoproteinaemia familial | Type 5 hyperlipidemia, elevations of VLDL and chylomicrons found in plasma. Synonym: mixed hyperlipidemia. (05 Mar 2000) |
| progressive familial scleroderma | A syndrome characterised by calcinosis cutis, Raynaud's phenomenon, sclerodactyly, and telangiectasia; usually due to scleroderma; autosomal dominant form of progressive systemic sclerosis. (05 Mar 2000) |
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