| ¿µ¹® | testicular feminization syndrome | ÇÑ±Û | °íȯ¿©¼ºÈÁõÈıº |
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| ¼³¸í | ÀÌÂ÷¼ºÀåÀ» Æ÷ÇÔÇÏ¿©, ¿Ü¼º±âÀÇ ¹ßÀ°Àº ¿©¼ºÀÌÁö¸¸ °íȯÀÌ Á¸ÀçÇϰí, Àڱðú ÀڱðüÀÌ °áÇ̵Ǿî ÀÖ´Â ³²¼º °ÅÁþ³²³àÇѸöÁõÀÇ ±Ø´ÜÀû ÇüÅÂÀÌ´Ù. À̰ÍÀº Å×½ºÅ佺Å×·ÐÀÇ ÀÛ¿ë¿¡ ´ëÇÑ ¸»´Ü±â°üÀÇ ÀúÇ׿¡ ±âÀÎÇÑ´Ù. |
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| ¿µ¹® | irritable bowel syndrome | ÇÑ±Û | °ú¹Î¼º´ëÀåÁõÈıº |
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| ¼³¸í | ¹èº¯Àå¾Ö, º¹Åë, º¹ºÎÆØ¸¸ µîÀÇ Áõ»óÀÌ ÀÖÀ¸³ª ±âÁúÀûÀÎ º´º¯ÀÌ ¾øÀ½ÀÌ È®ÀÎµÈ ¿¹¸¦ ÃѸÁ¶óÇÑ ÀÓ»ó ÁõÈıºÀÌ´Ù. °¡Àå ÈçÇÑ ¼Òȱâ ÁúȯÀ̸ç(Àü¼Òȱâ ȯÀÚÀÇ 70~80%) °¡Àå ÈçÇÑ Áúº´(Àüü Àα¸ÀÇ ¾à 20%)ÀÌ´Ù. ¿©¼ºÀÌ ³²¼º¿¡ ºñÇØ 2¹è Á¤µµ ¸¹ÀÌ ¹ß»ýÇϸç 30´ë ¹× 40´ë¿¡¼ È£¹ßÇÏ°í ¼±Áø °ø¾÷±¹¿¡¼ ¸¹ÀÌ ¹ß»ýÇÑ´Ù. Áø´ÜÀ» À§Çؼ´Â º´·Â ûÃë°¡ °¡Àå Áß¿äÇÏ°í °¢Á¾ °Ë»ç·Î¼ ±âÁúº´À» Á¦¿ÜÇØ¾ß ÇÑ´Ù. Ä¡·á·Î´Â ¾ÈÁ¤¿ä¹ý(Á¤½Å°úÀû ¸é´ã ¹× ½É¸®¿ä¹ý, ½Å°æ¾ÈÁ¤Á¦), ½Ä»ç¿ä¹ý(°í¼¶À¯Áú À½½Ä ¼·Ãë, Àڱؼº À½½Ä ÇÇÇϱâ), ¾à¹° ¿ä¹ý(âÀÚ°æ·Ã ÁøÁ¤Á¦, º¯ºñ ¿ÏÈÁ¦, Áö»çÁ¦) µîÀ» »ç¿ëÇÑ´Ù. |
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| ¿µ¹® | withdrawal syndrome | ÇÑ±Û | ±Ý´ÜÁõÈı٠|
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| ¼³¸í | ¾ËÄÚ¿Ã, ¸¶¾à, ¹ÙºñÅõ¸£»ê°è ÃÖ¸é¾à µîÀÇ ¾à¹°À» Àå±â°£ º¹¿ëÇÏ¿© ¾à¹°ÀÌ ¾øÀÌ´Â °ßµô ¼ö ¾ø°ÔµÈ µÚ, ±× ¾à¹°À» ÁßÁöÇÑ °æ¿ì¿¡ ³ªÅ¸³ª´Â, °íÅëÀÌ ¼ö¹ÝµÇ´Â ½ÅüÀû Áõ»óÀ» ¸»ÇÑ´Ù. ¿¬¼Ó º¹¿ëÀÇ ±â°£¿¡ µû¶ó Áõ»óÀÌ ¹«°Å¿öÁø´Ù. Åë»óÀûÀ¸·Î ±¸Åä, ¼³»ç, Ç÷¾Ð»ó½Â, ºü¸¥¸Æ, ¶¡³², È¥¼ö µîÀÇ Áõ»óÀÌ ³ªÅ¸³´Ù. |
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| ¿µ¹® | organic brain syndrome | ÇÑ±Û | ±âÁúÀû ³úÁõÈıº |
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| ¼³¸í | ³úÀÇ ±âÁúÀûÀÎ(organic-:ÀÌ ¸»Àº ±â´ÉÀûÀÎ(functional)¿¡ ¹ÝÇÏ´Â ¸»·Î½á) ¸ðµç °Ë»ç¸¦ ½ÃÇàÇÏ¸é ¾î¶² ÀÌ»óÀ» ¹ß°ßÇÒ ¼ö ÀÖ´Ù´Â ¶æÀÌ´Ù. ¹Ù²Ù¾î ¸»Çϸé, ±â´ÉÀûÀÎ ÀÌ»ó¿¡ ÀÇÇÑ ³úÁõÈıºÀº ¾î¶°ÇÑ °Ë»ç·Îµµ ÀÌ»óÀ» ¹ß°ßÇÒ ¼ö ¾øÀ¸³ª ºÐ¸íÈ÷ ȯÀÚ¿¡°Ô ÀÌ»óÁõ»óÀÌ ³ªÅ¸³µÀ» ¶§ À̸¦ ¹¾î¼ ¸»ÇÑ´Ù. ÀÌ»ó¿¡ ÀÇÇØ ½Å°æÇÐÀûÀÎ ÀÌ»óÀ» ³ªÅ¸³»´Â ÀÏ·ÃÀÇ º´ÀûÇö»óÀ» ¸ðµÎ ÅëÆ²¾î ¸»ÇÑ´Ù. ÀÌ º´Àº ÈçÈ÷ º¸¾Æ ¸¶Ä¡ Á¤½Åº´È¯ÀÚó·³ ¸»À» Ⱦ¼³¼ö¼³Çϰí, ¾Ë¾ÆµéÀ» ¼ö ¾ø´Â ¸»À» Çϸç, ¶§·Î´Â ´Ù¸¥ »ç¶÷¿¡°Ô °ø°ÝÀûÀÎ ¼ºÇâÀ» ³ªÅ¸³»±âµµ ÇÑ´Ù. ±×¸®°í ´Ù¸¥ »ç¶÷°ú µµÀúÈ÷ ±³·ù¸¦ ÇÒ ¼ö ¾ø´Â Á¤¼¸¦ ³ªÅ¸³»±âµµ ÇÑ´Ù. ±×·¯³ª, ÀÌ º´ÀÌ ´Ù¸¥ Á¤½Åº´°ú ±¸º°µÇ´Â Ư¡ÀûÀÎ Áõ»óÀº ¸ÕÀú, ÀǽÄÀÇ È¥Å¹ÀÌ µ¿¹ÝµÇ´Â °æ¿ì°¡ ¸¹°í, ¶ÇÇÑ ±× Áõ»óÀÇ Á¤µµ°¡ º¯ÇÑ´Ù´Â °ÍÀÌ´Ù. Áï, ¾ÆÄ§¿¡´Â Á¤»óÀûÀÎ ÇൿÀ» ÇÏ´Ù°¡ ¿ÀÈİ¡ µÇ¸é, ÀǽÄÀÌ Èå·ÁÁö¸é¼ ¸»À» Ⱦ¼³¼ö¼³ÇÑ´Ù¸é, ÀÌ´Â ±âÁú¼º³úÁõÈıºÀÏ °¡´É¼ºÀÌ ³ô´Ù. |
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| ¿µ¹® | Down syndrome | ÇÑ±Û | ´Ù¿îÁõÈıº |
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| ¼³¸í | »ç¶÷ÀÇ 46°³ ¿°»öü Áß Á¦ 21¹ø ¿°»öüÀÇ ¼ö°¡ 1°³ ´õ ¸¹¾ÆÁö¹Ç·Î½á ³ªÅ¸³ª´Â º´ÀÌ´Ù. ȯÀÚÀÇ »ý±è»õ°¡ ¸¶Ä¡ ¸ù°í »ç¶÷°ú ´à¾Ò´Ù ÇÏ¿© ÀÏ¸í ¸ù°íÁõ(mongolism)À̶ó°í ÇÏ¿´À¸³ª À߸øµÈ À̸§ÀÌ´Ù. ÀÌ º´Àº ¹Ýµå½Ã 21¹ø ¿°»öü°¡ 3°³°¡ µÇ´Â °æ¿ìÀ̿ܿ¡µµ 21¹ø ¿°»öüÀÇ ÀϺκÐÀÌ ´Ù¸¥ ¿°»öüÀÇ ÀϺκаú ±³È¯ÀÌ µÇ´Â translocationÇü µîÀÇ ´Ù¸¥ ¿°»öüÀ̻󿡼µµ º¼ ¼ö°¡ ÀÖ´Ù. ¹ß»ý ºóµµ´Â Ãâ»ý¾Æ 700~1000¸íÁß 1¸í ²Ã·Î ³ªÅ¸³ª¸ç, ¿°»öü ÀÌ»óº´ Áß¿¡ °¡Àå ¸¹Àº °ÍÀ¸·Î ¾Ë·ÁÁ® ÀÖ´Ù. ÀÌ º´ÀÇ ¹ß»ýºóµµ´Â »ê¸ðÀÇ Ãâ»ê¿¬·É°ú ¹ÐÁ¢ÇÑ °ü°è°¡ ÀÖ¾î, 35¼¼ ÀÌÈİ¡ µÇ¸é ±âÇÏ ±Þ¼öÀûÀ¸·Î ÀÌ ÁúȯÀÚÀÇ Ãâ»ê¼ö°¡ Áõ°¡ÇÑ´Ù. ÀϹÝÀûÀ¸·Î ÀÌ Áúȯ¿¡ ÀÖ¾î¼ ¾à 3ºÐÀÇ 1Àº ¸ðÄ£ÀÇ Ãâ»ê¿¬·É¿¡ ÀÇÁ¸ÇÏÁö ¾Ê°í, ³ª¸ÓÁö ¾à 3ºÐÀÇ 2´Â ¸ðÄ£ÀÇ ¿¬·É°ú Á÷Á¢ °ü·ÃÀÌ ÀÖ´Â °ÍÀ¸·Î º¸°í ÀÖ´Ù. Áø´ÜÀº Ư¡ÀûÀÎ »ý±è»õ, Áï ¸ù°í »ç¶÷°°ÀÌ ´«²¿¸®°¡ À§·Î Ä¡ÄÑÁ® ÀÖ°í ´«°ÅÇ®ÀÌ µÎ²¨¿ì¸ç ÄàµîÀÌ ³·Àº Ư¡ÀûÀÎ ¾ó±¼ ¸ð½À, ¶ÇÇÑ ±ÙÀ°ÀÇ ±äÀåµµ°¡ ÀúÇϵǰí Á¥À» ºü´Â Èû°ú ¿ïÀ½ ¼Ò¸®°¡ ¾àÇÏ¸ç ¼Õ¹Ù´ÚÀÇ Á¿츦 °¡¸£´Â ÇÑÁÙÀÇ ¼Õ±Ý(¿ø¼þÀÌ¿Í °°Àº ÇüÅÂÀÌ´Ù) µîÀÇ Æ¯Â¡ÀûÀÎ ¼Ò°ß¿¡ ÀÇÇØ º¸Á¶Áø´ÜÀ» Çϰí ÃÖÁ¾ÀûÀ¸·Î ¿°»öü ºÐ¼®¿¡ ÀÇÇØ È®ÁøÀ» ÇÑ´Ù. ÀÌ ´Ù¿îÁõÈıºÀÇ È¯ÀÚ´Â ´ë°³ Áö´ÉÀÌ ÀúÇϵǾî ÀÖ°í, ¿©·¯ °¡Áö Á¾·ùÀÇ ¼±Ãµ¼º ½ÉÀå±âÇüÀ» ¸¹ÀÌ µ¿¹ÝÇϰí ÀÖ´Ù. |
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| MS | Maffuci syndrome; maladjustment score; mandibular series; Marfan syndrome; Marie-Strumpell [syndrome... |
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| FHH | Familial Hypocalciuric Hypercalcemia = Familial Benign Hypercalcemia |
| FAD | familial Alzheimer dementia; familial autonomic dysfunction; fetal activity-acceleration determinati... |
| FAP | familial adenomatous polyposis; familial amyloid polyneuropathy; fatty acid polyunsaturated; fatty a... |
| CS | calf serum; campomelic syndrome; carcinoid syndrome; cardiogenic shock; caries-susceptible; carotid ... |
| BFNC | Benign Familial Neonatal Convulsions |
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| FAD | Familial Alzheimer's disease |
| FALS | Familial ALS |
| FAP | Familial Adenomatous Polyposis |
| FAP | Familial Amyloid Polyneuropathy |
| familial chylomicronemia syndrome | <endocrinology, syndrome> An inherited disorder resulting in accumulation of chylomicrons as well as triacylglycerols. See: chylomicronemia. (05 Mar 2000) |
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| familial aortic ectasia syndrome | <cardiology, syndrome> The concurrence as an autosomal dominant trait of bicuspid aortic valve often with premature calcification, ectasia and dissection of the aorta and, rarely, coarctation of the aorta. Superficially resembles the Marfan's syndrome. Synonym: familial aortic ectasia. (05 Mar 2000) |
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| 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) |
| hypercholesterolaemia, familial | A familial disorder characterised by increased plasma concentration of cholesterol carried in low density lipoproteins (ldl) and by a deficiency in a cell surface receptor which regulates ldl degradation and cholesterol synthesis. It is frequently associated with arcus senilis and premature atherosclerosis. (12 Dec 1998) |
| hyperlipidemia, familial combined | A disorder genetically distinct from the other inherited hyperlipidemias characterised by the type II or type IV lipoprotein pattern (the pattern may change from time to time and the lipid level may be normal at one time and abnormal at another time). (12 Dec 1998) |
| hypophosphatemia, familial | Familial disorder characterised by hypophosphatemia associated with decreased renal tubular reabsorption of inorganic phosphorus. It is sometimes associated with osteomalacia or rickets which do not respond to the usual doses of vitamin d. (12 Dec 1998) |
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