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"ectrodactyly-ectodermal dysplasia clefting 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.
À̰ÍÀ» ¿øÇϼ̽À´Ï±î?
¾Ë±â½¬¿î ÀÇÇпë¾îÇ®ÀÌÁý, ¼­¿ïÀÇ´ë ±³¼ö ÁöÁ¦±Ù, °í·ÁÀÇÇÐ ÃâÆÇ À¯»ç °Ë»ö °á°ú : 4 ÆäÀÌÁö: 5
¿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.
¿µ¹® Horner syndrome ÇÑ±Û È£¸£³ÊÁõÈıº
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  ±³°¨½Å°æ°æ·ÎÀÇ Àå¾Ö·Î »ý±â´Â º´ÀÌ´Ù. ±³°¨½Å°æÀº ÀÚÀ²½Å°æÀÇ Çϳª·Î ¿Â¸ö¿¡ ºÐÆ÷¸¦ ÇÑ´Ù. Æ¯È÷ ¾ó±¼ÂÊ¿¡´Â ´«²¨ÇÃÀ» ¿Ã¸®´Â ±ÙÀ°°ú ¶¡»ù¿¡ ºÐÆ÷Çϰí ÀÖ´Ù. À̿͠°°Àº ±³°¨½Å°æÀÇ ÀÛ¿ëÀ¸·Î ´«²¨Ç®À» Á¤»óÀûÀ¸·Î ¿Ã¸®°í ¾ó±¼¿¡ ¶¡ÀÌ ³ª¿À°Ô µÈ´Ù. ±× ¿Ü¿¡µµ ´«ÀÇ ºûÀÇ ¾çÀ» Á¶ÀýÇϴ ȫ並 ¼öÃà½Ã۴ ±ÙÀ°¿¡ ºÐÆ÷ÇØ¼­ ±× ÀÛ¿ëÀ¸·Î ´«ÀǠȫä°¡ ¼öÃàÇÏ¿© µ¿°øÀÌ Ä¿Áö°Ô µÈ´Ù. ±³°¨½Å°æÀº ±× ±â¿øÀÌ ´ë³ú¼Ó¿¡ Á¸ÀçÇϴ ½Ã»óÇϺζó´Â °÷À̰í À̰÷¿¡¼­ ½ÃÀÛÇÑ ±³°¨½Å°æÀº Ã´¼ö¸¦ Å¸°í ³»·Á¿Í¼­ ¸ñºÎÀ§¿¡¼­ Ã´¼ö¸¦ ºüÁ®³ª¿Í¼­ ±³°¨½Å°æÀ» Áٱ⸦ Çü¼ºÇÏ¿© ´Ù½Ã ³ú·Î °¡´Â Ç÷°üÀ» µû¶ó¼­ ¾ó±¼ÂÊÀ¸·Î °¡°ÔµÈ´Ù. ¸¸¾à ÀÌ ±³°¨½Å°æÀÇ ÁÖÇàºÎÀ§¿¡ º´º¯ÀÌ »ý±â¸é ±×ÂÊÀÇ ¾ó±¼¿¡ ±³°¨½Å°æÀÌ Â÷´ÜµÇ¹Ç·Î º´ÅÍÂÊÀÇ ´«ÀÇ ´«²¨Ç®ÃÄÁü, Ãൿ ±×¸®°í º´º¯Ãø ¾ó±¼ºÎÀÇ ¶¡ÀÌ ³ªÁö ¾Ê´Â °Í µîÀÇ Áõ»óÀ» ³ªÅ¸³ª°Ô µÈ´Ù. ÀÌ·± Çö»óÀ» È£¸£³ÊÁõÈıºÀ̶ó°í ÇÑ´Ù. À̰ÍÀº ¿©·¯ °¡Áö º´¿¡¼­ ³ªÅ¸³¯ ¼ö°¡ Àִµ¥ ³ú³ª Ã´¼öÀÇ ÁúȯÁß¿¡¼­ ÀÌ ±³°¨½Å°æ·Î¸¦ ¾Ð¹ÚÇϰųª Ä§¹üÇϴ º´¿¡¼­ »ý±æ ¼öµµ ÀÖÀ¸¸ç, ¶Ç´Â Æó¾ÏÀ̠ô¼ö¿¡¼­ ºüÁ®³ª¿Í ¸ñºÎºÐ¿¡¼­ ÀÌ·é ±³°¨½Å°æÀÇ Áٱ⸦ ´©¸¦ °æ¿ì¿¡µµ »ý±æ ¼öµµ ÀÖ´Ù.
¿µ¹® respiratory distress syndrome(RDS) ÇÑ±Û È£Èí°ï¶õÁõÈıº
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  ÆóÆ÷¿Í Æó¸ð¼¼Ç÷°ü »çÀÌ¿¡ ºÎÁ¾À¸·Î ÀÎÇÑ È®»ê´É °¨¼Ò·Î È£Èí°ï¶õ°ú Ã»»öÁõÀ» º¸À̴ »óÅ·Π°¨¿°, ¼ö¼ú, ¿Ü»ó µî ¸ðµç Á¾·ùÀÇ ½ºÆ®·¹½º»óȲ¿¡¼­ ¹ß»ýÇÒ ¼ö ÀÖ´Ù. Ä¡·á´Â ¼±Çà ¿äÀÎÀÇ ±³Á¤°ú ÀûÀýÇÑ Ç÷¾×³» »ê¼Ò³óµµ À¯ÁöÀÌ´Ù.
¿µ¹® acquired immunodeficiency syndrome ÇÑ±Û ÈÄõ¸é¿ª°áÇÌÁõÈıº, ¿¡ÀÌÁî
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  Àΰ£¸é¿ª°áÇ̹ÙÀÌ·¯½º(HIV)¿¡ ÀÇÇÏ¿© ¸é¿ª ¼¼Æ÷°¡ ÆÄ±«µÊÀ¸·Î½á ÀÎüÀÇ ¸é¿ª´É·ÂÀÌ ±Øµµ·Î ÀúÇϵǾ´¿øÃ¼¿¡ ´ëÇÏ¿© ¹«¹æºñ »óÅ¿¡ À̸£´Â º´. ¿¡ÀÌÁî ¹ÙÀÌ·¯½ºÀÇ °¨¿°À¸·Î »ý±â¸ç, 1981³â ¹Ì±¹¿¡¼­ Ã³À½ º¸°íµÇ¾ú´Ù. ÃÖÃÊ °¨¿°À¸·ÎºÎÅÍ Áõ»óÀÌ ³ªÅ¸³ª±â±îÁö´Â Æò±Õ 10³â Á¤µµ °É¸®¸ç »ç¸Á·üÀÌ ´ë´ÜÈ÷ ³ô´Ù. ¼ºÀû Á¢ÃË, ¿À¿° ÁÖ»ç±â »ç¿ë, ¿À¿° Ç÷¾× ¹× Ç÷¾× Á¦Á¦ »ç¿ë, ¿¡ÀÌÁî »ê¸ð·ÎºÎÅÍ ¼öÁ÷°¨¿° µûÀ§¿¡ ÀÇÇÏ¿© °¨¿°µÈ´Ù. °¨¿° ÈÄ Àϰú¼ºÀ¸·Î °¨±â¿Í °°Àº Áõ»óÀ» º¸À̸砹ÙÀÌ·¯½ºÇ÷ÁõÀ¸·Î µÇÁö¸¸ ¹ÙÀÌ·¯½º´Â °¨¼ÒµÇ°í 6~8ÁÖ ÈÄ¿¡´Â Ç×ü°¡ ¾ç¼ºÀ¸·Î µÈ´Ù. 6~10³â Á¤µµÀÇ ¹«ÁõÈļº º¸±Õ±â°£À» Áö³ª¼­ ¿¡ÀÌÁî°ü·ÃÁõÈıº(AIDS related syndrome)À¸·Î µÈ´Ù. ÀúÇ×·ÂÀÇ °¨¼Ò, ¸²ÇÁÀýºñ´ë, Ã¼Áß°¨¼Ò, ¹ß¿­, ¸¸¼º¼³»ç°¡ À̾îÁø´Ù. ±× ÈÄ ¿¡ÀÌÁî·Î µÇ¸ç, ÆóÆ÷ÀÚÃæÆó·Å µîÀÇ ¿øÃ溴, Ä­µð´Ù µîÀÇ Áø±ÕÁõ, Ç츣Æä½º¹ÙÀÌ·¯½º±º µîÀÇ ±âȸ°¨¿°ÀÌ À̾îÁø´Ù. ¶ÇÇÑ Ä«Æ÷½ÃÀ°Á¾, ¸²ÇÁÁ¾ µîÀ» º´¹ßÇØ¼­ »ç¸ÁÇÑ´Ù. ¹ÙÀÌ·¯½ºÀÇ ³úÁ¶Á÷³» Áõ½ÄÀ¸·Î Ä¡¸Å¸¦ ÀÏÀ¸Å³ ¼öµµ ÀÖ´Ù. HIV-1Àº 10³â°£¿¡ »ç¸Á·üÀÌ 90%, HIV-2´Â 10%ÀÌ´Ù.
´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 5
  • ¿µ¹®
    ÇѱÛ
  • 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
  • capsular block syndrome
    ÇǸ·Æó¼âÁõÈıº
  • combined immunodeficiency syndrome
    º¹Çո鿪°áÇÌÁõÈıº
  • compartment syndrome
    ±¸È¹ÁõÈıº
  • complex regional pain syndrome
    º¹ÇÕºÎÀ§ÅëÁõÁõÈıº
  • compression syndrome
    ¾Ð¹ÚÁõÈıº
  • congenital rubella syndrome
    ¼±ÃµÇ³ÁøÁõÈıº
  • Conn¡¯s syndrome
    ÄÜÁõÈıº
´ëÇÑÀÇÇù Çʼö ÀÇÇпë¾îÁý »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 6 ÆäÀÌÁö: 5
  • ¿µ¹®
    ÇѱÛ
  • thoracic outlet syndrome
    °¡½¿¹®ÁõÈıº, Èä°ûÃⱸÁõÈıº
  • Turner's syndrome
    ÅͳÊÁõÈıº
  • withdrawal syndrome
    ±Ý´ÜÁõÈıº
  • Wolff-Parkinson White syndrome
    ¿ùÇÁÆÄŲ½¼È­ÀÌÆ®ÁõÈıº
  • WPW syndrome
    (¢¡Woff Parkinson White syndrome) ¿ùÇÁÆÄŲ½¼È­ÀÌÆ®ÁõÈıº
  • X syndrome
    ÁõÈıº¿¢½º
¿¾ ´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 5
  • ¿µ¹®
    ÇѱÛ
  • 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
  • capsule contracture syndrome
    ¼öÁ¤Ã¼³¶¼öÃàÁõÈıº
  • carbohydrate malabsorption syndrome
    ´çÁúÈí¼öºÒ·®ÁõÈıº
  • carcinoid syndrome
    Ä«¸£½Ã³ëÀ̵åÁõÈıº
  • carpal tunnel syndrome
    ¼Õ¸ñ±¼ÁõÈıº
  • cast syndrome
    ¼®°íºØ´ëÁõÈıº
  • cat¡¯s cry syndrome
    °í¾çÀÌ¿ïÀ½ÁõÈıº
¿¾ ´ëÇÑÀÇÇù 2 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 5
  • ¿µ¹®
    ÇѱÛ
  • Chilaiditis syndrome
    ų¶óÀ̵ðƼÁõÈıº.
  • Chronic fatigue syndrome
    ¸¸¼ºÇÇ·Î ÁõÈıº
  • Churg-Strauss syndrome
    Ãʱ×-½ºÅä¶ó¿ì½º ÁõÈıº
  • Cockayne syndrome
    ÄÚÄÉÀÎ ÁõÈıº(~ ñøý¦ÏØ)
  • Cockaynes syndrome
    ÄÚÄÉÀÎ ÁõÈıº
  • Coffin-Lowry syndrome
    ÄÚÇÉ-·Î¸® ÁõÈıº
  • Coffin-Siris syndrome
    ÄÚÇÉ-½Ã¸®½º ÁõÈıº
  • Cogan-Reese syndrome
    ÄÚ°£-¸®½ºÁõÈıº
  • Conn syndrome
    ÄÜÁõÈıº
  • Conns syndrome
    ÄÜÁõÈıº.
  • Conradi syndrome => chondrodysplasia calcificans congenita
    ¼±Ãµ¼º Ä®½·È­ ¿¬°ñ ÀÌÇü¼º
  • Conradi-Hunermann syndrome => chondrodysplasia punctata, autosomal dom
    »ó¿°»öü ¿ì¼ºÇü Á¡»ó¿¬°ñ ÀÌÇü¼º
  • Costens syndrome
    ÄÚ½ºÅÙ ÁõÈıº
  • Cotards syndrome
    ÄÚŸ¸£ÁõÈıº.
  • Cri du chat syndrome ºÒ
    ¹¦¼ºÁõÈıº.
¿¾ ´ëÇÑÀÇÇù 3 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 5
  • ¿µ¹®
    ÇѱÛ
  • pterygo arthromyo dysplasia congenita
    ¼±Ãµ¼º ÀÍ»óÆí °üÀý±Ù ÀÌÇü¼º(Áõ)(à»ô¸àõìÏßÒø¸Î¼ï½ÐÉì¶û¡à÷ñø).
  • pterygo arthromyo dysplasia congenita
    ¼±Ãµ¼º ÀÍ»óÆí°üÀý±ÙÀÌÇü¼º(Áõ)(à»ô¸àõ ìÏßÒø¸Î¼ï½ÐÉì¶û¡à÷(ñø))
  • renal dysplasia
    ½ÅÀÌÇü¼ºÁõ
  • renal dysplasia
    ½ÅÀÌÇü¼º(Áõ)(ãìì¶û¡àõñø)
  • retinal dysplasia
    ¸Á¸·ÀÌÇü¼º(ØÑدì¶û¡à÷), ¸Á¸·Çü¼ºÀå¾ê
  • retinal dysplasia
    ¸Á¸·ÀÌÇü¼º(¡­ì¶û¡à÷)
  • septo-optic dysplasia
  • spondyloepiphyseal dysplasia
    ô¼ö °ñ´Ü ÀÌÇü¼º(ô±âÐÍéÓ®ì¶û¡à÷).
  • spondyloepiphyseal dysplasia
    ô¼ö°ñ´ÜÀÌÇü¼º(ô±âÐÍéÓ®ì¶û¡à÷)
  • thymic dysplasia
    Èä¼± ÀÌÇü¼º
  • tricho-odonto-onychial dysplasia
    ¸ð ÀÌ ¼Õ¹ßÅé Çü¼ºÀå¾Ö
  • tricho-onycho-dental dysplasia
    ¸ð ¼Õ¹ßÅé ÀÌ Çü¼ºÀå¾Ö
  • angry back syndrome => excited skin syndrome
  • syndrome, Steiners [=curtius syndrome, facial hem
    ¾È¸é¹Ý(ÂÊ)ºñ´ëÁõ
  • abdominal muscle deficiency syndrome
    º¹±Ù°á¼ÕÁõÈıº(ÜÙÐÉÌÀáßñøý¦ÏØ).
KMLE ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 5
ED early-decision [applicant]; early differentiation; ectodermal dysplasia; ectopic depolarization; eff...
EEM ectodermal dysplasia, ectrodactyly, macular dystrophy [syndrome]; erythema exudativum multiforme
HARD hydrocephalus-agyria-retinal dysplasia [syndrome]
HARD +/- E hydrocephalus-agyria-retinal dysplasia plus or minus encephalocele [syndrome]
HEDH hypohidrotic ectodermal dysplasia-hypothyroidism [syndrome]
KMLE ÀÚµ¿ÃßÃâ ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 5
M.E.D. Multiple epiphyseal dysplasia
NID Neuronal Intestinal Dysplasia
RVD Right ventricular dysplasia
SOD Septo-optic dysplasia
SED Spondylo-epiphyseal dysplasia
°æºÏ´ë Ä¡°ú´ëÇÐ ±¸°­³»°ú ±³½Ç »çÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 5
  • ¿µ¹®
    ÇѱÛ
    ¼³¸í
  • aortitis syndrome
    ´ëµ¿¸Æ¿° ÁõÈıº
  • apallic syndrome
    ¹«½É ÁõÈıº
  • apathetic-akinetic syndrome
    ¹«°¨µ¿-¹«µ¿ÀÛ ÁõÈıº
  • Apert syndrome
    ¿¡ÆÛÆ® ÁõÈıº, ¾ÆÆä¸£Æ® ÁõÈıº
    ÀÓ»óÀûÀ¸·Î µÎ°³°ñ ºÀÇÕÀÇ Á¶±â Æó¼â·Î ÀÎÇÑ µÎ°³ ±âÇü, ¾È¸é Á߾ӺΠÇü¼º ºÎÀü, ¾çÃø¼º ÇÕÁöÁõÀ¸·Î Á¤ÀǵȴÙ. µå¹® Àå¾Ö·Î¼­ ¶§·Î »ó¿°»öü ¿ì¼º À¯ÀüÀÌ °üÂûµÇ±âµµ Çϳª º¸ÅëÀº »ê¹ßÀûÀÎ µ¹¿¬º¯ÀÌ¿¡ ÀÇÇØ ¹ß»ýµÈ´Ù.
  • arthritis-dermatitis syndrome
    °üÀý¿°-ÇǺο° ÁõÈıº
  • Ashermans syndrome
    ¾Æ¼Å¸¸ ÁõÈıº
    Àڱó» ¿ìÂø¿¡ ÀÇÇÏ¿© Áö¼Ó¼º ¹«¿ù°æ°ú ÀÌÂ÷¼º ºÒÀÓÀÌ ³ªÅ¸³ª´Â °Í. º¸Åë Àڱó» ¼ÒÆÄÀÇ °á°ú·Î ÀϾ´Ù.
  • atypical or mixed organic brain syndrome
    ºñÁ¤Çü ³»Áö È¥ÇÕÇü ±âÁú¼º ³ú ÁõÈıº
  • atypical schizophrenic syndrome
    ºñÁ¤Çü Á¤½ÅºÐ¿­¼º ÁõÈıº
  • autoerythrocyte sensitization syndrome
    ÀÚ°¡ ÀûÇ÷±¸ °¨ÀÛ ÁõÈıº
    ÁÖ·Î ÀþÀº ¿©ÀÚ¿¡°Ô º¼ ¼ö ÀÖ´Â ÀÚ¹Ý ¹ÝÀÀÀÇ ÀÏÁ¾À¸·Î ¿Ü»ó ¾øÀÌ ¶Ç´Â ºÒ¿ÏÀü ¿Ü»ó ÈÄ ½Åü¿¡ ÀÚ¿¬ÀûÀ¸·Î µ¿ÅëÀ» µ¿¹ÝÇÏ°í ¹Ýº¹ÇÏ¿© ´Üµ¶ ¶Ç´Â ´Ù¹ß¼º ¹Ý»ó ÃâÇ÷ÀÌ ³ªÅ¸³­´Ù. ¸¹Àº Áõ·Ê¿¡¼­ ÀûÇ÷±¸ ±¸¼º ¼ººÐ¿¡ ´ëÇÑ °ú¹Î¼ºÀÌ ¿øÀÎÀ¸·Î »ý°¢µÇ³ª, ¹éÇ÷±¸°¡ ¿øÀÎÀ¸·Î »ý°¢µÇ´Â ¿¹µµ ÀÖ´Ù. Á¤¼­Àû Àå¾Ö°¡ ¹ßº´ °á½Ç ÀÎÀÚ·Î º¸ÀδÙ.
  • Axenfeld syndrome
    ¾Ç¼¾ÆçÆ® ÁõÈıº
  • B-K mole syndrome
    B-K ¸ð¹Ý ÁõÈıº
  • Barters syndrome
    ¹ÙÅÍ ÁõÈıº
  • basal ganglion calcification syndrome
    ±âÀú ½Å°æÀý ¼®È¸È­ ÁõÈıº
  • battered child syndrome
    ÇÇÇÐ´ë¾Æ ÁõÈıº, ¾Æµ¿ Çдë ÁõÈıº, ¼Ò¾Æ Çдë ÁõÈıº
    ¾Æµ¿ÀÇ »À ¹× ¿¬ºÎ Á¶Á÷¿¡ ´Ù¼öÀÇ ¿Ü»ó¼º º´º¯À» ³ªÅ¸³»´Â °ÍÀ¸·Î¼­ Á¾Á¾ °æ¸·ÇÏ Ç÷Á¾À» ¼ö¹ÝÇÑ´Ù. ÀÌ·± º´º¯Àº º¸Åë ¼ºÀÎÀÇ °íÀÇÀûÀÎ °¡ÇØ¿¡ ÀÇÇØ »ý±ä´Ù. ºÎ¸ðµéÀÌ 3¼¼ ÀÌÇÏ Æ¯È÷ 1¼¼ ÀÌÇÏÀÇ À¯¾Æ¸¦ ¹«ºÐº°ÇÏ°Ô ¶§¸®°Å³ª ±âŸ ¹æ¹ýÀ¸·Î ÇдëÇÔÀ¸·Î½á ÀϾ´Â ½Åü Áõ»ó. ¹Ì±¹ÀÇ ¼Ò¾Æ°ú ÀÇ»ç H. ÄÍÇÁ µîÀÌ ¹Ì±¹ Àü¿ª¿¡ °ÉÃÄ Á¶»çÇÏ¿´À¸¸ç, 1962³âÀÌ·¡ ¼±Áø Á¦±¹¿¡ ³Î¸® ¾Ë·ÁÁø Çö»óÀÌ´Ù. ÁÖ·Î, ¨ç ÇÇÇÏ ÃâÇ÷, Àý»ó, È­»ó µîÀÇ ÇǺΠÁõ¼¼, ¨è Àü½ÅÀÇ °ñÀý, Å»±¸, ¨é µÎ°³³» ÃâÇ÷À̳ª °æ¸·ÇÏÇ÷Á¾, ¨ê Àå±â ÆÄ¿­ ¹× ³»ÃâÇ÷ µî º¹ºÎÀÇ ¼Õ»ó, ¨ë ¼ºÀå ¹ß´Þ ÀåÇØ µîÀ» º¼ ¼ö ÀÖ´Ù. À̰ÍÀº ¿À´Ã³¯ÀÇ ¼±Áø Á¦±¹ÀÇ ±Þ¼ÓÇÑ °¡Á¤ ºØ±« Çö»ó°ú °ü·ÃÇÏ¿© ÀϾ´Â Áõ¼¼ÀÌ´Ù. ºÎºÎ°£ÀÇ °¥µîÀÌ ±Ø½ÉÇØÁö¸é À̵éÀº ¼­·Î °£ÆíÇÏ°Ô Çì¾îÁ®¾ß ÇÑ´Ù°í »ý°¢Çϰí À̶§ ¾î¸°¾ÆÀ̵éÀÌ Àå¾Ö¹°À̶ó ¹Ï°Ô µÇ¾î ¾Æ¹« ÁË ¾ø´Â ¾ÆÀ̵éÀ» ¸¶±¸ ÆøÇàÇÏ´Â µîÀÇ ÇдëÇàÀ§°¡ ³ªÅ¸³­´Ù. Çд븦 °¡ÇÏ´Â ºÎ¸ðµéÀº Á¤¼­ÀûÀ¸·Î ¹Ì¼÷ÇÑ È÷½ºÅ׸® ¼º°ÝÀÚ, ¼ºÀû ºÒ°¨Áõ, °ø°Ý¼º ¼º°ÝÀÚ, ¾ËÄÚ¿Ã Áßµ¶ÀÚ, ¸Á»óÇüÀÇ Á¤½ÅºÐ¿­Áõ ȯÀÚ µî¿¡¼­ º¼ ¼ö ÀÖ´Ù. À̶§ Çд븦 ¹ÞÀº ¾ÆÀ̵éÀº Á¤½Å ¹ß´Þ Àå¾ÖÁõ, ¹ÝÇ×Àû ¼º°Ý, °íÁýÀÌ ¼¾ Ç×¹®±âÀû °íÂøÁõ µîÀÇ Æ¯Â¡À» ³ªÅ¸³½´Ù. ÀÌ·¯ÇÑ Çö»óÀº Çѱ¹ÀÇ »çȸ ¹®È­¿¡¼­´Â ¾ÆÁ÷ Èñ±ÍÇÏÁö¸¸ ±Ù´ëÈ­, ÇÙ°¡Á·È­, ¿©±ÇÀÇ ½ÅÀå, ¾ËÄÚ¿Ã Àα¸ÀÇ Áõ°¡, »çȸÀû ½ºÆ®·¹½º ¿äÀÎÀÇ Áõ´ë·Î Á¡Á¡ Áõ°¡µÈ´Ù.
  • Bechet syndrome
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fibrous dysplasia, monostotic Fibrous dysplasia of bone involving only one bone.
(12 Dec 1998)
fibrous dysplasia of bone A disease of bone marked by thinning of the cortex and replacement of bone marrow by gritty fibrous tissue containing bony spicules, producing pain, disability, and gradually increasing deformity. Only one bone may be involved (fibrous dysplasia, monostotic) or several (fibrous dysplasia, polyostotic).
(12 Dec 1998)
fibrous dysplasia of jaws <radiology> Hereditary form of polyostotic fibrous dysplasia, involves mandible
(12 Dec 1998)
fibrous dysplasia, polyostotic Fibrous dysplasia of bone affecting several or many bones. When associated with melanotic pigmentation of the skin and endocrine disorders, it is known as albright's syndrome.
(12 Dec 1998)
florid osseous dysplasia Benign fibro-osseous jaw lesions of unknown aetiology, occurring predominantly in middle-aged black females, which present as large painless radiopaque masses usually involving several quadrants of the jaw.
Synonym: florid osseous dysplasia, cemental dysplasia.
(05 Mar 2000)
lymphopenic thymic dysplasia An obsolete term for thymic alymphoplasia.
(05 Mar 2000)
Aarskog-Scott syndrome A syndrome of ocular hypertelorism, anteverted nostrils, broad upper lip, saddle-bag scrotum, and laxity of ligaments resulting in genu recurvatum, flat feet, and hyperextensible fingers; X-linked and autosomal dominant forms.
Synonym: Aarskog-Scott syndrome.
(05 Mar 2000)
Aarskog syndrome <syndrome> Grier et al. (1983) reported father and 2 sons with typical Aarskog syndrome, including short stature, hypertelorism, and shawl scrotum.
They tabulated the findings in 82 previous cases. X-linked recessive inheritance has been repeatedly suggested. The family reported by Welch (1974) had affected males in 3 consecutive generations. Thus, there is either genetic heterogeneity or this is an autosomal dominant with strong sex-influence and possibly ascertainment bias resulting from use of the shawl scrotum as a main criterion. Stretchable skin was present in the cases of Grier et al. (1983). Teebi et al. (1993) reported the case of an affected mother and 4 sons (including a pair of monozygotic twins) by 2 different husbands. They suggested that the manifestations were as severe in the mother as in the sons and that this suggested autosomal dominant inheritance. Actually, the mother seemed less severely affected, compatible with X-linked inheritance.
Clinical signs: Mild to moderate short stature,normocephaly, Widow's peak hair, maxillary hypoplasia, broad nasal bridge, anteverted nostrils, long philtrum, broad upper lip, curved linear dimple below the lower lip, hypertelorism, ptosis, down-slanted palpebral fissures, ophthalmoplegia, strabismus, hyperopic astigmatism, large cornea, floppy ears, lop-ears,cleft lip/palate, shawl scrotum, saddle-bag scrotum, cryptorchidism, brachydactyly, digital contractures, clinodactyly, mild syndactyly, transverse palmar crease, lymphoedema of the feet, ligamentous laxity, osteochondritis dissecans, proximal finger joint hyperextensibility, flexed distal finger joints, genu recurvatum, flat feet, stretchable skin, cervical spine hypermobility, odontoid anomaly, macrocytic anaemia, hemochromatosis, hepatomegaly, portal cirrhosis, imperforate anus, rectoperineal fistula, interstitial pulmonary disease, sternal deformity.
Inheritance: Sex-influenced autosomal dominant form, also X-linked form.
(05 Aug 1998)
abdominal muscle deficiency syndrome <syndrome> Congenital absence (partial or complete) of abdominal muscles, in which the outline of the intestines is visible through the protruding abdominal wall; in males, genitourinary anomalies (urinary tract dilation and cryptorchidism) are also found; genetics unclear.
(05 Mar 2000)
abstinence syndrome <syndrome> A constellation of physiologic changes undergone by persons or animals who have become physically dependent on a drug or chemical due to prolonged use at elevated doses, but who are abruptly deprived of that substance. The abstinence syndrome varies with the drug to which dependence has developed. Generally the effects observed are in an opposite direction from those produced by the drug; e.g., the withdrawal syndrome from central nervous system depressants such as barbiturates and benzodiazepines consists of insomnia, restlessness, tremulousness, hallucinations, and, in the extreme, tonic-clonic convulsions which may prove fatal. The onset time and severity of the abstinence syndrome depend upon how rapidly the drug disappears from the body.
(05 Mar 2000)
Achard syndrome <syndrome> Arachnodactyly with small receding mandible, broad skull, and joint laxity limited to the hands and feet; genetics unclear.
(05 Mar 2000)
Achard-Thiers syndrome <syndrome> One form of a virilizing disorder of adrenocortical origin in women, characterised by masculinization and menstrual disorders in association with manifestations of diabetes mellitus, such as glucosuria.
(05 Mar 2000)
Achenbach syndrome <syndrome> Haematoma of the finger pad with accompanying oedema; of unknown cause in the absence of disturbances in blood coagulation mechanisms.
(05 Mar 2000)
achoo syndrome <syndrome> A disorder characterised by nearly uncontrollable paroxysms of sneezing provoked in a reflex fashion by the sudden exposure of a dark-adapted subject to intensely bright light, usually sunlight.
Inheritance: autosomal dominant.
(05 Aug 1998)
Acquired Immunodeficiency Syndrome <immunology, syndrome> An epidemic disease caused by an infection by human immunodeficiency virus (HIV-1, HIV-2), a retrovirus that causes immune system failure and debilitation and is often accompanied by infections such as tuberculosis. AIDS is spread through direct contact with bodily fluids.
Acronym: AIDS
(10 May 1997)
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