| ECG | Electro-Cardio-Graphy(-Gram); ½ÉÀüµµ = EKG 1. Conducting System Structu... |
|---|---|
| PMD | Progressive Muscular Dystrophy; ÁøÇ༺ ±ÙÀÌ¿µ¾çÁõ Types of PMD(Progressive Muscular Dystroph... |
| TAPVR | Total Anomalous Pulmonary Venous Return = TAPVC 4 Types of TAPVR &... |
| HLP | hepatic lipoperoxidation; hind leg paralysis; holoprosencephaly; hyperkeratosis lenticularis perstan... |
| ALL | Acute Lymphocytic Leukemia ÇüÅÂÇÐÀû ºÐ·ù L1; Small, Homogenous(... |
| FAF | Familial amyloidosis, Finnish type |
|---|---|
| HSV-2 | Herpes Simplex Virus type I and type 2 |
| HIV-2 | Human Immunodeficiency Virus type 1 and type 2 |
| HSV 2 | herpes simplex virus type 1 or type 2 |
| Type 1 | type |
familial leiomyomatosis cutis et uteri (°¡Á·¼º ÇǺΠÀڱà ±ÙÁ¾Áõ
| type I familial hyperlipoproteinaemia | Hyperlipoproteinaemia characterised by the presence of large amounts of chylomicrons and triglycerides in the plasma when the patient has a normal diet, and their disappearance on a fat-free diet; low alpha-and beta-lipoproteins on a normal diet, with increase on fat-free diet; decreased plasma postheparin lipolytic activity; and low tissue lipoprotein lipase activity. It is accompanied by bouts of abdominal pain, hepatosplenomegaly, pancreatitis, and eruptive xanthomas; autosomal recessive inheritance. See: familial lipoprotein lipase inhibitor. Synonym: Burger-Grutz syndrome, familial fat-induced hyperlipaemia, familial hyperchylomicronaemia, familial hypertriglyceridemia, idiopathic hyperlipaemia. (05 Mar 2000) |
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| type II familial hyperlipoproteinaemia | Hyperlipoproteinaemia characterised by increased plasma levels of beta-lipoproteins, cholesterol, and phospholipids, but normal triglycerides; heterozygotes have mild lipid changes and are susceptible to atherosclerosis in middle age, but homozygotes have severe changes often with generalised xanthomatosis and xanthelasma, and frank clinical atherosclerosis as young adults. The primary defect is a deficiency of apoprotein of VLDL, and the disorder is divided into two classes: 1) type IIA, which has elevated LDL due to a deficiency of the receptor or a modified apolipoprotein B-100; 2) type IIB, which has elevated LDL and triglycerides; autosomal dominant inheritance. Synonym: familial hyperbetalipoproteinaemia, familial hypercholesteraemic xanthomatosis, familial hypercholesterolaemia. (05 Mar 2000) |
| type III familial hyperlipoproteinaemia | Hyperlipoproteinaemia characterised by increased plasma levels of LDL, beta-lipoproteins, pre-beta-lipoproteins, cholesterol, phospholipids, and triglycerides; hypertriglyceridemia induced by a high carbohydrate diet, and glucose tolerance is abnormal; frequent eruptive xanthomas and atheromatosis, particularly coronary artery disease; biochemical defect lies in apolipoproteins; there are many varieties. Synonym: carbohydrate-induced hyperlipaemia, dysbetalipoproteinaemia, familial hyperbetalipoproteinaemia and hyperprebetalipoproteinaemia, familial hypercholesterolaemia with hyperlipaemia. (05 Mar 2000) |
| type IV familial hyperlipoproteinaemia | Plasma levels of VLDL, pre-beta-lipoproteins and triglycerides are increased on a normal diet, but beta-lipoproteins, cholesterol, and phospholipids are normal; hypertriglyceridemia is induced by a high carbohydrate diet; may be accompanied by abnormal glucose tolerance and susceptibility to ischemic heart disease; probably autosomal recessive inheritance. Synonym: carbohydrate-induced hyperlipaemia, familial hyperprebetalipoproteinaemia, familial hypertriglyceridemia. (05 Mar 2000) |
| type V familial hyperlipoproteinaemia | Hyperlipoproteinaemia characterised by increased plasma levels of chylomicrons, VLDL, pre-beta-lipoproteins, and triglycerides, and slight rise of cholesterol on a normal diet, with beta-lipoproteins normal; may be accompanied by bouts of abdominal pain, hepatosplenomegaly, susceptibility to atherosclerosis, and abnormal glucose tolerance; probably autosomal recessive inheritance. Synonym: combined fat-and carbohydrate-induced hyperlipaemia, familial hyperchylomicronaemia with hyperprebetalipoproteinaemia, mixed hyperlipaemia. (05 Mar 2000) |
| 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) |
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