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"Familial advanced sleep-phase syndrome"¿¡ ´ëÇÑ °Ë»ö °á°úÀÔ´Ï´Ù. °Ë»ö °á°ú º¸´Â µµÁß¿¡ Tab ۸¦ ´©¸£½Ã¸é °Ë»ö âÀÌ ¼±Åõ˴ϴÙ.
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¿µ¹® asphycitic syndrome ÇÑ±Û Áú½ÄÁõÈıº
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  È£Èí±âÁßÀÇ »ê¼Ò°áÇÌ¿¡ ÀÇÇÑ »ý¸íÁ¤ÁöÀÇ Àý¹ÚÇÑ »óÅÂ, ¶Ç´Â ½ÇÁ¦·Î Á¤Áö°¡ ÀϾ »óÅÂ, °íÀÌ»êȭź¼ÒÁõ°ú Àú»ê¼ÒÁõ È¤Àº ¹«»ê¼ÒÁõ µîÀÌ µ¿¹ÝµÈ´Ù. ¿Ü°è ÆóÀÇ °íÅëÀÌ µÎÀýµÇ¾î ÆóÀǠȣÈíÀÛ¿ëÀÌ Àå¾ÖµÇ´Â °Í(¿ÜÁú½Ä)°ú °¡½º³ª ¾àÁ¦¿¡ ÀÇÇØ »ýü³» Á¶Á÷ÀÇ °¡½º±³È¯ÀÌ ¹æÇظ¦ ¹Þ´Â °Í(³»Áú½Ä)ÀÌ ÀÖ´Ù. ÀϹÝÀûÀ¸·Î ¿ÜÁú½ÄÀ» °¡¸®Å°´Â °æ¿ì°¡ ¸¹´Ù. ¿øÀÎÀ¸·Î¼­´Â ÄÚ³ª ÀÔ µî È£ÈíÀÔ±¸ÀÇ Æó»ö, À½½Ä¹°À̳ª À̹°¿¡ ÀÇÇÑ ±âµµÆó»ö, ¸ñÁ¶ÀÓ, ¹° ¶Ç´Â ºÐºñ¹° µîÀÌ ±âµµ·Î µé¾î°¡´Â °Í, ¾à¹° ¶Ç´Â ÆÄ»ódz¿¡ ÀÇÇѠȣÈí±Ù¸¶ºñ, ¸Å¸ô µî ¿Ü·Â¿¡ ÀÇÇѠȣÈí¿îµ¿ÀÇ ÀúÁö, °ø±â ÁßÀÇ »ê¼ÒºÎÁ· ¹× À¯µ¶°¡½ºÀÇ ÈíÀÔ µîÀ» µé ¼ö ÀÖ´Ù.
¿µ¹® nephrotic syndrome ÇÑ±Û ÄáÆÏÁõÈıº
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  ÄáÆÏÀÇ Å丮À̻󿡠ÀÇÇÑ ´Ü¹éÁú¼Õ½ÇÀÌ ÁÖ¿øÀÎÀΠº´ÀÌ´Ù. ±× Á¤ÀǴ ¼ºÀÎÀÇ ¿ä´Ü¹é·®(¼Òº¯¿¡ ¼¯¿© ³ª¿À´Â ´Ü¹éÁúÀÇ ¾ç. ´ë°³ Á¤»óÀο¡¼­´Â ³ª¿ÀÁö ¾Ê°Å³ª, È¤Àº ¾ÆÁÖ ¼Ò·®ÀÌ ³ª¿Ã »ÓÀÓ)ÀÌ ÇÏ·ç 3.5mgÀÌ»ó, ¶ÇÇÑ ¼Ò¾Æ¿¡¼­´Â Ç÷Áß ¾ËºÎ¹Î³óµµ°¡ 2.5mgÀÌÇÏ, ÇÏ·íµ¿¾È ¼Òº¯À¸·Î ³ª¿À´Â ¿ä´Ü¹é·®À» ½Ã°£´ç °è»êÇßÀ» ¶§ ½Ã°£´ç 40mgÀÌ»óÀΠ°æ¿ìÀÌ´Ù. µû¶ó¼­ ÄáÆÏÁõÈıºÀ̶õ À§ÀÇ Á¤ÀÇ¿¡ ÇÕ´çÇϱ⸸ Çϸ頸ðµÎ ÇØ´çµÇ¹Ç·Î, ¿©·¯ °¡Áö ¿øÀο¡ ÀÇÇÑ ÄáÆÏÀÌ»óÀ¸·Î¼­ ´Ü¹éÁúÀÇ Áö³ªÄ£ ¹èÃâÀ» ³ªÅ¸³»´Â Áúº´ÀÇ ÁýÇÕü¸¦ ¶æÇÑ´Ù. ´ë°³ Áõ»óÀº Áö³ªÄ£ Ç÷ÁߴܹéÁúÀÇ °¨¼Ò·Î ÀÎÇÑ ºÎÁ¾, ±×¸®°í ÀÌÂ÷ÀûÀΠÁõ»óÀ¸·Î ¹ß»ýÇÑ °íÁöÁúÇ÷Áõ, °¨¿°°¨¼ö¼ºÀÇ Áõ°¡, °íÇ÷¾Ð µîÀÌ´Ù. Ä¡·á¿Í ¿¹ÈĴ ÄáÆÏÁõÈıºÀ» ³ªÅ¸³»´Â °¢ ¿øÀο¡ µû¶ó ´Ù¸£³ª, ´ë°³ ¼Ò¾Æ¿¡ ¹ß»ýÇÑ °æ¿ì ½ºÅ×·ÎÀ̵åÁ¦Àç¿¡ ÀÇÇÑ Ä¡·áÈ¿°ú°¡ ³ô´Ù.
¿µ¹® Cushing's syndrome ÇÑ±Û Äí½ÌÁõÈıº
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  Äí½ÌÁõÈıºÀ̶õ ±Û·çÄÚÄÚ¸£Æ¼ÄÚÀ̵尡 ¸¸¼ºÀûÀ¸·Î °úÀ׺кñ¿¡ ÀÇÇØ¼­ ÀϾ´Â º´À» ¸»ÇÑ´Ù.
  
  ¿øÀÎÀ¸·Î ¨ç ³úÇϼöü¿¡¼­ ACTH°¡ °úÀ× ºÐºñµÇ´Â °æ¿ì: ³úÇϼöü¿¡¼­ ACTH°¡ ³Ê¹«³ª ¸¹ÀÌ ºÐºñµÇ´Â °æ¿ì¿¡ ºÎ½Å°ÑÁúÀ» ÀÚ±ØÇؼ­ ¸¹Àº ¾çÀÇ ±Û·çÄÚÄÚ¸£Æ¼ÄÚÀ̵尡 ºÐºñµÈ´Ù. ¨è ³úÇϼöü ÀÌ¿ÜÀÇ ºÎºÐ¿¡¼­ ACTH°¡ ¸¹ÀÌ ºÐºñµÇ´Â °æ¿ì: Æó¾Ï, ³­¼Ò¾Ï µîÀÇ Á¾¾ç¿¡¼­ ACTH¸¦ »ý»êÇϴ °æ¿ì°¡ ÀÖ´Ù. ÀÌ °æ¿ì¿¡µµ ¿ª½Ã ºÎ½ÅÇÇÁúÀÌ ÀÚ±ØÀÌ µÇ¾î¼­ ¸¹Àº ¾çÀÇ ±Û·çÄÚÄÚ¸£Æ¼ÄÚÀ̵尡 ºÐºñµÈ´Ù. ¨é ACTHÀÇ ÀÚ±ØÀÌ ¾øÀÌ ºÎ½Å¿¡¼­ ¸¹Àº ¾çÀÇ ±Û·çÄÚÄÚ¸£Æ¼ÄÚÀ̵尡 ³ª¿À´Â °æ¿ì. ACTHÀڱؿ¡ °ü°è¾øÀÌ ºÎ½ÅÇÇÁúÀÇ °úÀ×¼ºÀå, Á¾¾ç¿¡ ÀÇÇØ¼­ ¸¹Àº ¾çÀÇ ±Û·çÄÚÄÚ¸£Æ¼ÄÚÀ̵尡 ºÐºñµÇ´Â °æ¿ì. ¨ê ¿ÜÀμº, ÀÇÀμº: Ä¡·á¸¦ À§Çؼ­ ¸¹Àº ¾çÀÇ ±Û·çÄÚÄÚ¸£Æ¼ÄÚÀ̵带 Àå±â Åõ¿©ÇÒ °æ¿ì¿¡ »ý±â´Â Äí½ÌÁõÈıº
  
  Äí½ÌÁõÈıº¿¡¼­ Æ¯È÷ ¨ç¹ø¿¡ ÇØ´çÇϴ °ÍÀ» Äí½Ìº´¶ó°í ÇÑ´Ù.
  
  Áõ»óÀº ¶×¶×ÇÏ°í ¾ó±¼ÀÌ ´Þµ¢ÀÌó·³ µÕ±Û°í »ìÀÌ ÂÈÁö¸¸ ÆÈ, ´Ù¸®´Â °¡´Ã°í ´ë½Å¿¡ ¸ö¿¡ ¸¹Àº »ìÀÌ ºÙ¾îÀÖ´Ù. ¸ñµÚ¿¡ ¸¹Àº »ìÀÌ À־ ±×°ÍÀÌ µ¢¾î¸®¸¦ Çü¼ºÇϱ⵵ ÇÑ´Ù. À̰ÍÀº ¿ø·¡ ±Û·çÄÚÄÚ¸£Æ¼ÄÚÀ̵尡 Áö¹æÀ» ºÐÇØÇϴ ¿ªÇÒÀ» ÇÏÁö¸¸ º´ÀûÀ¸·Î ¸¹ÀÌ ³ª¿Ã °æ¿ì¿¡´Â Áö¹æÀÇ ºÐÆ÷¸¦ º¯È­½Ã۴ ¿ªÇÒÀ» Çϱ⠶§¹®ÀÌ´Ù. Áï ÆÈ, ´Ù¸® µîÀÇ ¿Â¸ö¿¡ ÆÛÁ®Àִ Áö¹æÀ» ¸öÅëÂÊÀ¸·Î ¸ðµÎ À̵¿½ÃŲ´Ù. ÀÜÅÐÀÌ ¿Â¸ö¿¡ °ÉÃļ­ ¸¹ÀÌ ³ªÀÖ°í ¿©µå¸§ÀÌ ¸¹°í ¹è¿¡ ÀÚÁÖ»ö ¼±Á¶°¡ Àִ °æ¿ì°¡ ¸¹´Ù. ±×¸®°í ±Û·çÄÚÄÚ¸£Æ¼ÄÚÀ̵尡 ´Ü¹éÁúÀ» ºÐÇØÇØ¼­ ´ç·ù¸¦ ¸¸µå´Â ¿ªÇÒÀ» ÇÏ¿© ±ÙÀ°À̳ª »À´ëÀÇ ½ÉÇÑ ¼Ò½ÇÀÌ ÀÖ´Ù. ±×·¡¼­ ±ÙÀ°ÀÌ °ÅÀÇ ¾ø¾îÁö°í »À´Â ¾ÆÁÖ ºÎ·¯Áö±â ½±°Ô µÈ´Ù. ´ë°³ °íÇ÷¾ÐÀΠ°æ¿ì°¡ ¸¹°í ½É¸®ÀûÀ¸·Î ¿ì¿ïÁõÀ̳ª °ú¹Î¼º µîÀÌ ÀÖÀ» ¼öµµ ÀÖ°í ½ÉÇÑ °æ¿ì¿¡´Â Á¤½Åº´Áõ¼¼¸¦ º¸À̱⵵ ÇÑ´Ù.
¿µ¹® Klinefelter syndrome ÇÑ±Û Å¬¶óÀÎÆçÅÍÁõÈıº
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  1942³â H.F. Å¬¶óÀÎÆçÅͰ¡ ±âÀçÇÑ ¼º¿°»öüÀÌ»óÁõÈıº. Á¤»óÀÎÀÇ ¼º¿°»öüÇüÀº ³²¼º XY, ¿©¼º XX¸¦ ³ªÅ¸³»Áö¸¸, ÀÌ ÁõÈıº¿¡¼­´Â ¼º¿°»öüÇüÀÌ XXY. XXYY, XXXXY µîÀÇ ¿©·¯ °¡Áö ÀÌ»óÇÑ ÇüŸ¦ ³ªÅ¸³½´Ù. ¿Ü¼º±â-ü°Ý-¼ºÂ¡ µîÀǠƯ¡ÀûÀΠÁõ¼¼·Î º¼ ¶§¿¡ ¿ÏÀüÇÑ ³²¼ºÀÌ °áÈ¥ÇÏ¿© ¼º»ýȰ±îÁö ÇÏ¿´À¸³ª, ÀÚ½ÄÀÌ ¾øÀÚ ºÎºÎ°¡ ÇÔ²² º´¿øÀ» Ã£¾Æ°¡¼­ ¿°»öü¸¦ °Ë»çÇØ º¸°í ³²ÀÚ¿¡°Ô ÀÌ ÁõÈıºÀÌ ÀÖÀ½À» ¾Ë°Ô µÇ´Â °æ¿ì°¡ ¸¹´Ù. ÀÌ ¹Û¿¡ ¼ºÀÎÀÌ µÇ¾î ³ªÅ¸³ª´Â ÁÖ¿ä Áõ¼¼¸¦ µé¸é, ÀÛÀº°íȯ, ¿©¼ºÇü À¯¹æÁõ, ¹«Á¤ÀÚÁõ, ºÒÀÓ, ¿äÁß °í³ªµµÆ®·ÎÇÉÀÇ »ó½Â, Áö´É ÀúÇÏ µîÀÌ´Ù. Ä¡·á´Â 2Â÷ ¼ºÂ¡ÀÇ ÃËÁøÀ» À§ÇÏ¿© È£¸£¸ó¿ä¹ý¿¡ ÀÇÇÑ ³²¼ºÈ­¸¦ ½ÃµµÇÑ´Ù.
¿µ¹® fetal alcohol syndrome ÇÑ±Û Å¾ƾËÄÚ¿ÃÁõÈıº
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  ÀӽűⰣ Áß ¸¸¼ºÀûÀ¸·Î ¾ËÄÚ¿ÃÀ» ¼·ÃëÇÑ ¿©ÀÚ¿¡°Ô¼­ Å¾ ¿µ¾Æ¿¡°Ô ³ªÅ¸³ª´Â ÇüŹ߻ýÀÇ ÀÌ»óÀ» ³ªÅ¸³»´Â ÁõÈıºÀ¸·Î¼­ À§ÅλÀ¹ßÀ°ºÎÀü, ¾Õ¸Ó¸®¿Í ¾Æ·¡ÅÎÀÇ µ¹Ãâ, ÂªÀº°Ë¿­, ÀÛÀº¾È±¸Áõ, ´«±¸¼®ÁÖ¸§, ½ÉÇÑ ¼ºÀåÁö¿¬, Á¤½ÅÁöü µîÀ» ³ªÅ¸³½´Ù.
´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 4
  • ¿µ¹®
    ÇѱÛ
  • Barth syndrome
    ¹Ù¸£Æ®ÁõÈıº
  • Bartter¡¯s syndrome
    ¹ÙÅÍÁõÈıº
  • basal cell nevus syndrome
    ¹Ù´Ú¼¼Æ÷¸ð¹ÝÁõÈıº, ±âÀú¼¼Æ÷¸ð¹ÝÁõÈıº
  • battered child syndrome
    ÇÇÇÐ´ë¾ÆÁõÈıº, ¸Å¸Â´Â¾ÆÀÌÁõÈıº
  • Beckwith¡¯s syndrome
    º¤À§½ºÁõÈıº
  • biotin deficiency syndrome
    ºñ¿Àƾ°áÇÌÁõÈıº
  • blind loop syndrome
    ¸·Èù°í¸®ÁõÈıº, ¸Í°üÁõÈıº
  • brain death syndrome
    ³ú»çÁõÈıº
  • branchial arch syndrome
    ÀεαÁÀÌÁõÈıº, »õ±ÃÁõÈıº
  • branchio-oto-renal syndrome
    ¾Æ°¡¹Ì±ÍÄáÆÏÁõÈıº
  • brittle hair syndrome
    Ãë¾à¸ð¹ßÁõÈıº
  • bronze baby syndrome
    ûµ¿»ö¾Æ±âÁõÈıº
  • Brown-Sequard syndrome
    ºê¶ó¿î-¼¼Ä«¸£ÁõÈıº
  • burning tongue syndrome
    ÇôÈ­²öÁõÈıº
  • clumsy child syndrome
    µÐÇѾƵ¿ÁõÈıº
´ëÇÑÀÇÇù Çʼö ÀÇÇпë¾îÁý »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 4
  • ¿µ¹®
    ÇѱÛ
  • severe acute respiratory syndrome
    ÁßÁõ±Þ¼ºÈ£ÈíÁõÈıº
  • Sheehan's syndrome
    ½¬ÇÑÁõÈıº
  • short bowel syndrome
    ªÀºÃ¢ÀÚÁõÈıº
  • sick building syndrome
    ºôµùÁõÈıº
  • Sjogren syndrome
    ¼î±×·»ÁõÈıº
  • Stevens-Johnson syndrome
    ½ºÆ¼ºì½ºÁ¸½¼ÁõÈıº
  • subacromial syndrome
    ºÀ¿ì¸®¹ØÁõÈıº, °ßºÀÇÏÁõÈıº
  • sudden infant death syndrome
    ¿µ¾Æ±Þ»çÁõÈıº
  • superior vena caval syndrome
    À§´ëÁ¤¸ÆÁõÈıº, »ó´ëÁ¤¸ÆÁõÈıº
  • systemic inflammatory response syndrome
    Àü½Å¿°Áõ¹ÝÀÀÁõÈıº
  • tarsal tunnel syndrome
    ¹ß¸ñ±¼ÁõÈıº, Á·±Ù°üÁõÈıº
  • testicular feminization syndrome
    °íȯ¿©¼ºÈ­ÁõÈıº
  • thoracic outlet syndrome
    °¡½¿¹®ÁõÈıº, Èä°ûÃⱸÁõÈıº
  • Turner's syndrome
    ÅͳÊÁõÈıº
  • withdrawal syndrome
    ±Ý´ÜÁõÈıº
¿¾ ´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 4
  • ¿µ¹®
    ÇѱÛ
  • basal cell nevus syndrome
    ¹Ù´Ú¼¼Æ÷¸ð¹ÝÁõÈıº, ±âÀú¼¼Æ÷¸ð¹ÝÁõÈıº
  • battered child syndrome
    ¸Å¸Â´Â¾ÆÀÌÁõÈıº
  • biochemical defect syndrome
    »ýÈ­ÇÐÀû°áÇÔÁõÈıº
  • blast syndrome
    Æø¹ßÁõÈıº
  • blind loop syndrome
    (¢¡stasis syndrome) âÀÚÁ¤Ã¼ÁõÈıº
  • blind spot syndrome
    ¸ÍÁ¡ÁõÈıº
  • brain death syndrome
    ³ú»çÁõÈıº
  • branchial arch syndrome
    ¾Æ°¡¹Ì±ÁÀÌÁõÈıº
  • branchio-otorenal syndrome
    ¾Æ°¡¹Ì±ÍÄáÆÏÁõÈıº
  • brittle hair syndrome
    Ãë¾à¸ð¹ßÁõÈıº
  • bronze baby syndrome
    ûµ¿»ö¾Æ±âÁõÈıº
  • Brown-Sequard syndrome
    ºê¶ó¿î¼¼±î¸£ÁõÈıº
  • bruising syndrome
    (¢¡simple purpura) ´Ü¼øÀÚ»ö¹Ý
  • camptomelic syndrome
    ±¼ÁöÁõÈıº, Áöü±¼°îÁõÈıº
  • capsular block syndrome
    ÇǸ·Æó¼âÁõÈıº
¿¾ ´ëÇÑÀÇÇù 2 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 4
  • ¿µ¹®
    ÇѱÛ
  • Blackfan-Diamond syndrome
    ºí·¢ÆÇ-´ÙÀ̾ƸóµåÁõÈıº
  • Bloom syndrome
    ºí·ç¿òÁõÈıº(¡­ñøý¦ÏØ).
  • Briquets syndrome
    ºê¸®ÄÉ ÁõÈıº
  • CREST syndrome
    Å©·¹½ºÆ® ÁõÈıº
  • CRST(Calcinosis, Raynauds phenomenon, Sclerodactyly, Telangiectasia) syndrome
    CRST ÁõÈıº.
  • Cestans syndrome
    ¼¼½ºÅºÁõÈıº.
  • Chandlers syndrome
    îµé·¯ÁõÈıº
  • Charcot-Wilbrand syndrome
    »þ¸£ÄÚ-ºôºê¶õµåÁõÈıº.
  • Charcots syndrome
    »þ¸£ÄÚÁõÈıº.
  • Charlins syndrome
    »þ¸¦·©ÁõÈıº.
  • Chauffard-Still syndrome
    ¼îÆÄ¸£-½ºÆ¿ÁõÈıº.
  • Chediak-Higashi syndrome
    ¼¼µð¾ÆÅ©-È÷°¡½Ã ÁõÈıº
  • Chediak-Higashi syndrome
    ¼¼µð¾ÆÅ©-È÷°¡½ÃÁõÈıº.
  • Chilaiditis syndrome
    ų¶óÀ̵ðƼÁõÈıº.
  • Chronic fatigue syndrome
    ¸¸¼ºÇÇ·Î ÁõÈıº
¿¾ ´ëÇÑÀÇÇù 3 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 4
  • ¿µ¹®
    ÇѱÛ
  • familial generalized melanocytosis
    °¡Á·¼º Àü½Å¼º ¸á¶ó´Ñ¼¼Æ÷Áõ
  • familial goiter
    °¡Á·¼º °©»ó¼±Á¾.
  • familial haemophagocytic lymphohistiocytosis
    °¡Á·¼º ÀûÇ÷±¸Àá½Ä¼º ¸²ÇÁÁ¶Á÷±¸Áõ
  • familial hemolytic anemia
    °¡Á·¼º ¿ëÇ÷¼º ºóÇ÷.
  • familial hemolytic icterus
    °¡Á·¼º ¿ëÇ÷¼º Ȳ´Þ.
  • familial hemolytic jaundice
    °¡Á·¼º ¿ëÇ÷¼º Ȳ´Þ.
  • familial hereditary tremor
    °¡Á·¼º À¯ÀüÁøÀü(Ê«ðéàõë¶îîòèïµ).
  • familial high density lipoprotein def
    °¡Á·¼º °íºñÁ߸®Æ÷´Ü¹éÁú°áÇÌ Áõ.
  • familial histocytic dermatoarthritis
    °¡Á·¼º Á¶Á÷±¸¼º ÇǺΰüÀý¿°
  • familial hypercholesterolemia
    °¡Á·¼º °úÄÝ·¹½ºÅ×·ÑÇ÷Áõ
  • familial hyperlipoproteinemia
    °¡Á·¼º °úÁöÁú´Ü¹éÇ÷Áõ
  • familial hyperuricemia
    °¡Á·¼º°ú´¢»êÇ÷Áõ
  • familial hypogammaglobulinemia
    °¡Á·¼º Àú°¨¸¶±Û·ÎºÒ¸°Ç÷Áõ.
  • familial hypophosphatasia
    °¡Á·¼º ÀúÀλêÁõ
  • familial idiopathic pulmonary fibrosi
    °¡Á·¼º Ư¹ß¼º Æó¼¶À¯Áõ(¡­÷åÛ¡àõ
KI ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 6 ÆäÀÌÁö: 4
  • ¿µ¹®
    ÇѱÛ
  • respiratory distress syndrome
    È£Èí°ï¶õÁõÈıº
  • short gut syndrome
    ´ÜÀåÁõÈıº
  • Sjogren's syndrome
    ¼î±×·»ÁõÈıº
  • straight back syndrome
    Á÷ôÃßÁõ
  • temporal lobe syndrome
    ÃøµÎ¿±ÁõÈıº
  • trisomy 18 syndrome
    18¹ø»ï¿ª»öüÁõÈıº
KMLE ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 4
WDHA Syndrome Watery Diarrhea, Hypokalemia, Achlorhydria Syndrome
  = Pancreatic Cholera (Syndrome)<...
HS Haber syndrome; half strength; hamstring; hand surgery; Hartmann solution; head sling; healthy subje...
KS Kallmann syndrome; Kaposi sarcoma; Kartagener syndrome; Kawasaki syndrome; keratan sulfate; ketoster...
RS radioscaphoid; random sample; rating schedule; Raynaud syndrome; recipient's serum; rectal sinus; re...
HSM Syndrome juvenile-familial Endocrinopathy Hypoparathyroidism Addison's Disease Menillansis
KMLE ÀÚµ¿ÃßÃâ ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 4
PALS Pediatric Advanced Life Support
RAGE Receptor for Advanced Glycation Endproduct
ABC advanced breast cancer
BFNC Benign Familial Neonatal Convulsions
FAD Familial Alzheimer's disease
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  • aeroadaptation syndrome
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  • Aicardi's syndrome
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    ¿©¾Æ Á¥¸ÔÀÌ¿¡ ³ªÅ¸³ª´Â ÁõÈÄ·Î ³ú·®Ã¼ÀÇ ¹«¹ßÀ°, »ê¹ßÀûÀÎ ¸Æ¶ô¸· ¸Á¸· º´º¯, ±ÙÀ° °æ·Ã°ú ±äÀ强 Á¤½Å °æ·Ã, Á¤½Å ¹ßÀ° Áöü°¡ Ư¡ÀÌ´Ù.
  • Albright-McCune-Sternberg syndrome
    ¾Ëºê¶óÀÌÆ® ¸ÆÄï ½ºÅϹö±× ÁõÈıº
  • Alezzandrini's syndrome
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    ÀÏÃø¼ºÀÇ º¯¼º ¸Á¸·¿°¿¡ °âÇÏ¿© °ðÀÌ¾î µ¿Ãø¿¡ ¹é¹Ý ¹× ¹é¸ðÁõÀÌ »ý±â°í ³­Ã»µµ ÀÖÀ» ¼ö ÀÖ´Ù.
  • Alice in Wonderland syndrome
    ÀÌ»óÇÑ ³ª¶óÀÇ ¾Ù¸®½º ÁõÈıº
    ÀÌÀÎÁõ, ½Åü»óÀÇ Àå¾Ö, ½Ã°£ È帧¿¡ ´ëÇÑ Áö°¢ÀÇ º¯È­ ±×¸®°í ±âŸ ¸Á»óÀ̳ª Âø°¢ µîÀ» ³ªÅ¸³»´Â ÀÏÁ¾ÀÇ ¸Á»ó »óÅÂ. Á¤½Å ºÐ¿­Áõ, °£Áúº´, ÆíµÎÅë, ³ú µÎÁ¤¿±ÀÇ Áúȯ, ÃÖ¸é ÀÌÀü »óÅ ¶Ç´Â ȯ°¢Á¦¸¦ »ç¿ëÇßÀ» ¶§ µî¿¡¼­ º¼ ¼ö ÀÖ´Ù.
  • Alport's syndrome
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    ÁøÇ༺ °¨°¢ ½Å°æ¼º ³­Ã», ÁøÇ༺ ½Å¿ì½Å¿° ¶Ç´Â »ç±¸Ã¼ ½Å¿°, ¶§·Î´Â ´«ÀÇ Àå¾Ö¸¦ µ¿¹ÝÇÏ´Â À¯Àü¼º ÁúȯÀ¸·Î¼­ »ó¿°»öü¼º ¿ì¼º ÇüÁú·Î À¯ÀüµÈ´Ù.
  • Alström's syndrome
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    »ö¼Ò¼º ¸Á¸·¿°°ú ¾ÈÁø, Á¶±â Áß½É¿Í ½Ã·Â »ó½Ç, ³­Ã», ºñ¸¸ ¹× ´ç´¢º´À» ³ªÅ¸³»´Â ¼±Ãµ¼º ÁõÈıº.
  • alveolar hypoventilation syndrome
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  • alveolar-capillary block syndrome
    ÆóÆ÷-¸ð¼¼Ç÷°ü Â÷´Ü ÁõÈıº
  • amelo-cerebro-hypohidrotic syndrome
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  • amphorometallic syndrome
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    Æó ÇãÅ» ¼ö¼ú ÈÄ ³ªÅ¸³ª´Â È£ÈíÀ½ÀÇ °øÈ£¼º, ¿µÀ½¼º ÁõÈıº.
  • androgen insensitivity syndrome
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  • androgen resistance syndrome
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  • Angelmans syndrome
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  • anginal syndrome
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CancerWEB ¿µ¿µ ÀÇÇлçÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 4
familial erythroblastic anaemia An outmoded term for thalassaemia major.
(05 Mar 2000)
familial fat-induced hyperlipaemia 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)
familial glycinuria A metabolic disorder believed to be due to defective renal glycine reabsorption; it may or may not be accompanied by oxalate urolithiasis; may be the heterozygous state of iminoglycinuria; autosomal dominant inheritance.
(05 Mar 2000)
familial goiter A group of heritable thyroid disorders in which goiter is commonly apparent first during childhood; often associated with skeletal and/or mental retardation, and with other signs of hypothyroidism that may develop with age. Various types of familial goiter have been identified: 1) iodide transport defect, in which the gland is unable to concentrate iodide; 2) organification defect, in which the iodination of tyrosine is defective; 3) Pendred's syndrome; 4) coupling defect, in which cretinism results from defective coupling of iodotyrosines to form iodothyronines; 5) iodotyrosine deiodinase defect, in which deiodination of iodotyrosine is defective, considerable glandular loss of these hormonal precursors occurs, and cretinism may be present; 6) plasma iodoprotein disorder, in which an abnormal iodinated serum protein that is insoluble in acidic butanol is present; 7) hereditary hyperthyroidism.
(05 Mar 2000)
familial high density lipoprotein deficiency Familial high {density lipoprotein deficiency}; a heritable disorder of lipid metabolism characterised by almost complete absence from plasma of high density lipoproteins, and by storage of cholesterol esters in foam cells, tonsillar enlargement, an orange or yellow-gray colour of the pharyngeal and rectal mucosa, hepatosplenomegaly, lymph node enlargement, corneal opacity, and peripheral neuropathy; autosomal recessive inheritance.
Synonym: familial high {density lipoprotein deficiency}, Tangier disease.
Origin: G. An-, priv., + alpha, a, + lipoprotein + -aemia, blood
(05 Mar 2000)
familial hyperbetalipoproteinaemia 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)
familial hyperbetalipoproteinaemia and hyperprebetalipoproteinaemia 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)
familial hypercholesteraemic xanthomatosis 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)
familial hypercholesterolaemia <biochemistry, cardiology> Excess of cholesterol in plasma as a result of defects in the recycling process that leads to reduced uptake of LDL (low density lipoprotein) into coated vesicles.
(18 Nov 1997)
familial hypercholesterolaemia with hyperlipaemia 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)
familial hyperchylomicronaemia 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)
familial hyperchylomicronaemia with hyperprebetalipoproteinaemia 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)
familial hyperlipoproteinaemia <biochemistry> A relatively rare (7 out of 1,000) genetic disease in which there is elevation in the blood triglycerides, cholesterol and low density lipoprotein (LDL). Also called type II hyperlipoproteinaemia, familial hyperlipoproteinaemia or familial hypercholesterolaemia.
Origin: Gr. Haima = blood
(27 Sep 1997)
familial hyperprebetalipoproteinaemia 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)
familial hypertriglyceridaemia <biochemistry> A common inherited disorder in which the concentration of VLDL is elevated in the bloodstream. VLDL is the lipoprotein carrier that carries triglycerides. Elevations of the triglyceride level (particularly in association with elevated cholesterol) have been correlated with the development of atherosclerosis, the underlying cause of heart disease and stroke.
(27 Sep 1997)
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