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"hereditary nonspherocytic hemolytic anemia"¿¡ ´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® iron deficiency anemia ÇÑ±Û Ã¶°áÇ̺óÇ÷
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  ÀûÇ÷±¸ÀÇ ±â´ÉÀº »ê¼Ò¸¦ ¿î¹ÝÇϴµ¥ ÀÖ´Ù. ÀûÇ÷±¸ ¼Ó¿¡ »ê¼Ò¿Í °áÇÕÀ» ÇÏ¿© »ê¼Ò¸¦ ¿î¹ÝÇϴ Ç÷»ö¼Ò¶ó´Â ¹°ÁúÀÌ ÀÖ´Ù. Ã¶Àº ÀÌ Ç÷»ö¼ÒÀÇ Áß¿äÇÑ ºÎºÐÀ» ÀÌ·ç´Â °ÍÀ¸·Î Ã¶ÀÌ ¾øÀ¸¸é Ç÷»ö¼Ò°¡ ¸¸µé¾îÁú ¼ö°¡ ¾ø´Ù. Ç÷»ö¼Ò°¡ ¾øÀ¸¸é ¿ª½Ã ÀûÇ÷±¸µµ ¸¸µé¾îÁöÁö ¾ÊÀ¸¹Ç·Î Ã¼³»¿¡ Ã¶ÀÌ ºÎÁ·Çϸ頺óÇ÷ÀÌ »ý±ä´Ù. À̠ö°áÇ̼º ºóÇ÷Àº ºóÇ÷ÀÇ ¿øÀΠÁß¿¡¼­ °¡Àå ÈçÇÑ °ÍÀÌ´Ù(¾à 25%¸¦ Â÷ÁöÇÑ´Ù). Ã¶ÀúÀå·®ÀÇ ÀúÇÏ-°áÇÌ, Ç÷ûö³óµµÀÇ ÀúÇÏ, Æ®¶õ½ºÆä¸°·® »ó½Â, Æ®¶õ½ºÆä¸°Æ÷È­µµÀÇ ÀúÇÏ, Ç÷»ö¼Ò³óµµ ¶Ç´Â Ç츶ÅäÅ©¸®Æ®ÀÇ ÀúÇÏ, Àú»ö¼Ò¼º´ëÀûÇ÷±¸¸¦ Æ¯Â¡À¸·Î Çϴ ºóÇ÷·Î¼­, »ýü ³»¿¡¼­ Ã¶ÀÌ Àå±â¿¡ °ÉÃÄ °áÇ̵Ǹ砱נ¶§¹®¿¡ Ç÷»ö¼Ò »ý»ê °¨¼Ò¿¡ ÀÇÇØ ÀϾ´Ù. Ã¢ÀÚ¿¡¼­ÀǠöÈí¼ö·® ºÎÁ·, Ã¶ÀÇ ¼ö¿ä Áõ´ë(À¯¾Æ±â, »çÃá±â, ÀÓ½Å), Ã¶¼Ò½Ç°úÀ×(ÃâÇ÷)¿¡ ÀÇÇØ ÀϾ¸ç, Æ¯È÷ »çÃá±â¿¡¼­ Æó°æ±â±îÁöÀÇ ¿©¼º¿¡°Ô ¸¹´Ù. Áõ»óÀ¸·Î¼­´Â ¾ó±¼Ã¢¹é, ÇǷΰ¨, ÇǺÎâ¹é, ¼ÕÅé º¯È­(½ºÇ¬ ¸ð¾ç) µîÀ» ³ªÅ¸³½´Ù. ±¸°­ ¿µ¿ª¿¡¼­´Â ÇôÀÇ Á¢ÃËÅë, ¹ßÀû, °ÇÁ¶°¨, »ïÅ´°ï¶õÀ» ¼ö¹ÝÇϸé Ç÷¯¸Ó-ºó½¼(Plummer-Vinson)ÁõÈıºÀ̶ó°í ÇÑ´Ù. Ç÷¾× ¼Ò°ßÀº Ç÷ûöÀº ÀúÇÏÇϸç, Ã¶°áÇÕ´É·ÂÀÇ »ó½Â, Àú»ö¼Ò¼º ÀÛÀºÀûÇ÷±¸¼ºÀ» ³ªÅ¸³½´Ù.
´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 2
  • ¿µ¹®
    ÇѱÛ
  • hereditary coproporphyria
    À¯ÀüÄÚÇÁ·ÎÆ÷¸£ÇǸ°Áõ
  • hereditary disease
    À¯Àüº´
  • hereditary disorder
    À¯ÀüÀå¾Ö, À¯ÀüÁúȯ
  • hereditary epilepsy
    À¯Àü°£Áú
  • hereditary hearing impairment
    À¯Àüû·ÂÀå¾Ö
  • hereditary hemorrhagic telangiectasia
    À¯Àü¼ºÃâÇ÷¸ð¼¼Ç÷°üÈ®ÀåÁõ
  • hereditary leptocytosis
    À¯ÀüÇ¥ÀûÀûÇ÷±¸Áõ
  • hereditary lymphedema
    À¯Àü¸²ÇÁºÎÁ¾
  • hereditary methemoglobinemic cyanosis
    À¯Àü¸ÞÆ®Çì¸ð±Û·ÎºóÇ÷û»öÁõ
  • hereditary motor sensory neuropathy
    À¯Àü¿îµ¿°¨°¢½Å°æº´(Áõ)
  • hereditary multiple exostosis
    À¯Àü´Ù¹ß»Àµ¹ÃâÁõ, À¯Àü´Ù¹ß¿Ü°ñÁõ
  • hereditary mutilating keratoma
    À¯ÀüÀý´Ü°¢È­Á¾
  • hereditary nonpolyposis colorectal cancer
    1. À¯Àü¼ººñÆú¸³À߷ϰðâÀÚ¾Ï 2. À¯Àü¼ººñÆú¸³´ëÀå¾Ï
  • hereditary opalescent dentine
    À¯ÀüÁ¥ºû»ó¾ÆÁú
  • hereditary palmoplantar keratoderma
    À¯Àü¼Õ¹ß¹Ù´Ú°¢ÁúÇǺÎÁõ
¿¾ ´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 2
  • ¿µ¹®
    ÇѱÛ
  • hemolytic gas
    ¿ëÇ÷°¡½º
  • hemolytic glaucoma
    ¿ëÇ÷³ì³»Àå
  • hemolytic
    ¿ëÇ÷Á¦, ¿ëÇ÷-
  • hemolytic icterus
    ¿ëÇ÷Ȳ´Þ
  • hemolytic index
    ¿ëÇ÷Áö¼ö
  • hemolytic jaundice
    ¿ëÇ÷Ȳ´Þ
  • hemolytic plaque
    ¿ëÇ÷ÇöóÅ©, ¿ëÇ÷ÆÇ
  • hemolytic splenomegaly
    ¿ëÇ÷Áö¶óºñ´ë, ¿ëÇ÷ºñÀåºñ´ë
  • hemolytic Streptococcus
    ¿ëÇ÷»ç½½¾Ë±Õ
  • hemolytic plaque test
    ¿ëÇ÷ÇöóÅ©°Ë»ç
  • hemolytic transfusion reaction
    ¿ëÇ÷¼öÇ÷¹ÝÀÀ
  • hemolytic-uremic syndrome
    ¿ëÇ÷¿äµ¶ÁõÈıº
  • microangiopathic hemolytic kidney
    ¹Ì¼¼Ç÷°üº´¿ëÇ÷ÄáÆÏ
  • nonimmunologic hemolytic transfusion reaction
    ºñ¸é¿ª¿ëÇ÷¼öÇ÷ºÎÀÛ¿ë
  • hereditary ataxia
    À¯ÀüÁ¶È­¿îµ¿ºÒ´É
¿¾ ´ëÇÑÀÇÇù 2 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 2
  • ¿µ¹®
    ÇѱÛ
  • Hemolytic transfusion reactions
    ¿ëÇ÷¼º ¼öÇ÷¹ÝÀÀ(âÃúìÚãëë)
  • acute hemolytic transfusion reaction
    ±Þ¼º¿ëÇ÷¼º¼öÇ÷¹ÝÀÀ
  • antibody, hemolytic
    ¿ëÇ÷¼ºÇ×ü
  • hemolytic
    ¿ëÇ÷Á¦, ¿ëÇ÷¼º(éÁúìàõ)ÀÇ.
  • hemolytic
    ¿ëÇ÷Á¦, ¿ëÇ÷¼º(ËíÌ´ËÛ)ÀÇ.
  • hemolytic activity
    ¿ëÇ÷´É
  • hemolytic amboceptor
    ¿ëÇ÷¼º ¾ç¼öü.
  • hemolytic antibody
    ¿ëÇ÷Ç×ü.
  • hemolytic chain
    ¿ëÇ÷¿¬¼â.
  • hemolytic crisis
    ¿ëÇ÷¹ßÁõ(?ËÑÌ¡).
  • hemolytic crisis
    ¿ëÇ÷¹ßÁõ(¡­Û¡ñø).
  • hemolytic crisis
    ¿ëÇ÷¹ßÁõ
  • hemolytic crisis
    ¿ëÇ÷¼º À§±â
  • hemolytic disease
    ¿ëÇ÷¼º Áúȯ(¡­òðü´).
  • hemolytic disease
    ¿ëÇ÷¼º Áúȯ
¿¾ ´ëÇÑÀÇÇù 3 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 2
  • ¿µ¹®
    ÇѱÛ
  • extrinsic hemolytic anemia
    ¿ÜÀμº¿ëÇ÷¼º ºóÇ÷
  • familial hemolytic anemia
    °¡Á·¼º ¿ëÇ÷¼º ºóÇ÷.
  • heat induced hemolytic anemia
    ¿­À¯¹ß¼º ¿ëÇ÷¼º ºóÇ÷
  • hemolytic anemia
    ¿ëÇ÷¼º ºóÇ÷
  • hemolytic anemia
    ¿ëÇ÷¼º ºóÇ÷.
  • hemolytic anemia
    ¿ëÇ÷¼º ºóÇ÷(éÁúìàõÞ¸úì)
  • hemolytic anemia
    ¿ëÇ÷¼ººóÇ÷
  • idiopathic autoimmune hemolytic anemia
    Ư¹ß(¼º) ÀÚ°¡¸é¿ª ¿ëÇ÷¼º ºóÇ÷.
  • immune cause (hemolytic anemia)
    ¸é¿ª¿øÀÎ(¿ëÇ÷¼ººóÇ÷)
  • immune hemolytic anemia
    ¸é¿ª¿ëÇ÷¼º ºóÇ÷
  • immune incompatibility (hemolytic anemia)
    ¸é¿ªºÎÀûÇÕ(¿ëÇ÷¼ººóÇ÷)
  • intravascular hemolytic anemia
    Ç÷°ü³»¿ëÇ÷¼º ºóÇ÷
  • intrinsic hemolytic anemia
    ³»Àμº ¿ëÇ÷¼º ºóÇ÷
  • isoimmune hemolytic anemia
    µ¿Á¾¸é¿ª¼º ¿ëÇ÷¼º ºóÇ÷
  • microangiopathic hemolytic anemia
    ¹Ì¼¼Ç÷°üº´¼º ¿ëÇ÷¼º ºóÇ÷(Ú°á¬úìηܻàõ éÁúìàõÞ¸úì).
´ëÇÑ»ýÈ­ÇкÐÀÚ»ý¹°ÇÐȸ ¿ë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 1 ÆäÀÌÁö: 2
  • ¿µ¹®
    ÇѱÛ
  • sickle cell anemia
    ³´¼¼Æ÷(á¬øà)ºóÇ÷(Þ¸úì)
KMLE ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 2
MAHA Micro-Angiopathic Hemolytic Anemia; PB»ó Helmet Cell
  ThrombocytopeniaÁß MAHAÀ¯¹ß
&nbs...
HHA health hazard appraisal; hereditary hemolytic anemia; home health agency; home health aid; hypothala...
CHA Canadian Hospital Association; Catholic Health Association; Chinese hamster; chronic hemolytic anemi...
HHS [Department of] Health and Human Services; Hearing Handicap Scale; hereditary hemolytic syndrome; hu...
AHA Autoimmune Hemolytic Anemia
KMLE ÀÚµ¿ÃßÃâ ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 2
GBS Group B beta hemolytic streptococci
GBS Group B beta--hemolytic streptococcus
HTR Hemolytic transfusion reactions
TTP-HUS Thrombotic thrombocytopenic purpura-hemolytic uremic syndrome
AISA Acquired Idiopathic Sideroblastic Anemia
°æºÏ´ë Ä¡°ú´ëÇÐ ±¸°­³»°ú ±³½Ç »çÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 2
  • ¿µ¹®
    ÇѱÛ
    ¼³¸í
  • hemolytic-uremic syndrome
    ¿ëÇ÷¼º ¿äµ¶ ÁõÈıº
  • minimum hemolytic dose
    ÃÖ¼Ò ¿ëÇ÷·®
  • hereditary
    À¯Àü¼º
    ºÎ¸ð·ÎºÎÅÍ ´ÙÀ½ ¼¼´ë·Î À¯ÀüÀÚ¿¡ ÀÇÇØ Àü´ÞµÇ´Â.
  • hereditary amyloidosis
    À¯Àü¼º À¯ÀüºÐÁõ
    1. À¯Àü¿¡ ÀÇÇØ ¿ø¼¶À¯¼º ´ç ´Ü¹éÀÌ ÇǺÎ, Á¡¸·, ³»ºÎ Àå±â¿¡ ħÀüµÇ´Â º´. 2. À¯ÀüÀûÀ¸·Î ½ÅüÀÇ °¢Á¾ ºÎÀ§¿¡ ¾Æ¹Ð·ÎÀ̵å
  • hereditary angioedema
    À¯Àü¼º ¸Æ°ü ºÎÁ¾, À¯Àü¼º Ç÷°ü ºÎÁ¾
    ½ÉºÎÀÇ ÁøÇÇ, ÇÇÇÏ Á¶Á÷, Á¡¸·ÇÏÁ¶Á÷À» ħ½ÀÇÏ´Â Ç÷°ü ¹ÝÀÀÀ¸·Î¼­, ¸ð¼¼Ç÷°üÀÇ È®Àå°ú Åõ°ú¼º Ç×Áø¿¡ ÀÇÇØ ÀϾ´Â ±¹ÇѼº ºÎÁ¾À» ³ªÅ¸³»¸ç °Å´ëÇÑ ÆØÁøÀÇ ¹ß»ýÀ» Ư¡À¸·Î ÇÑ´Ù. »ó¿°»öü¼º ¿ì¼º ÇüÁú·Î À¯ÀüÇÑ´Ù. »ê¹ß¼ºº¸´Ù ³»Àå º´º¯À» ´õ Àß ÀÏÀ¸Å°´Â °æÇâÀÌ ÀÖ´Ù.
  • hereditary aphasia
    À¯Àü ½Ç¾î, À¯Àü¼º ½Ç¾î, À¯Àü ½Ç¾îÁõ, À¯Àü¼º ½Ç¾îÁõ
  • hereditary brown tooth
    À¯Àü¼º °¥»ö Ä¡¾Æ
  • hereditary cerebrospinal paralysis
    ¿ìÀü¼º ³úô¼ö ¸¶ºñ
    º¸Åë Áß³â Ãʱ⿡ ÁøÇàÇÏ´Â À¯Àü¼º ÁúȯÀ¸·Î »óÁö ¶Ç´Â ÇÏÁöÀÇ ¾çÁö ¶Ç´Â ÀÏÃøÀ̳ª »çÁö¿¡ ³ªÅ¸³ª¸ç, ¼­¼­È÷ ÁøÇàµÇ´Â ¸¶ºñ°¡ Ư¡ÀÌ´Ù.
  • hereditary craniofacial dysostosis
    À¯Àü¼º µÎ°³ ¾È¸é À̰ñÁõ
    ž»ó µÎ°³, ¾È±¸ µ¹Ãâ, ¾ç¾È °Ý¸®, »ç½Ã, ¾Þ¹«»õ ºÎ¸® ¸ð¾ç1114-377786/377786Àüµ¹À» ¼ö¹ÝÇÏ´Â »ó¾Ç Çü¼º ºÎÀüÀ» Ư¡À¸·Î ÇÏ´Â À¯ÀüÀû Áúȯ.
  • hereditary disease
    À¯Àüº´
    À¯ÀüÀÚ¿¡ ÀÇÇÏ¿© ÀϾ´Â ½ÅüÀû, Á¤½ÅÀûÀÎ ÀÌ»óÀÇ ÃÑĪ. À¯Àü¼º ÁúȯÀ̶ó°íµµ ÇÑ´Ù. º´, ÀÌ»ó ÇüÁúÀÌ À¯ÀüÀû ¿äÀΰú °ü·ÃÀÌ ÀÖÀ½¿¡ µû¶ó¼­ ¹Ýµå½Ã À¯ÀüÀÚ¿¡ ÀÇÇÏÁö ¾Ê´Â À¯ÀüÀûÀÎ º´µµ À¯Àüº´À̶ó°í ÇÏ°Ô µÇ¾ú´Ù. 1°³ÀÇ ¿ì¼º À¯ÀüÀÚ¿¡ ÀÇÇÏ¿© ÀϾ´Â ÇåÆÃÅÏ ¹«µµº´, ¹ß·»ºÎ¸£Å© ÁõÈıº, ¿­¼º À¯ÀüÀÚÀÇ µ¿Çü Á¢ÇÕ¿¡ ÀÇÇÏ¿© ³ªÅ¸³ª´Â ¹éÀÚ, Æä´ÒÄÉÅæ´¢Áõ, X ¿°»öü À§ÀÇ ¹Ý¼º À¯ÀüÀÚ¿¡ ÀÇÇÑ Àû·Ï »ö¸Í, Ç÷¿ìº´, ÁøÇ༺ ±Ù µð½ºÆ®·ÎÇÇÁõ µîÀº ¸í¹éÈ÷ ÀÌÀ¯ ÀüÀÚ¿¡ ÀÇÇÑ °ÍÀ¸·Î¼­, À¯Àüº´ÀÇ ´ëÇ¥ÀûÀÎ °ÍÀ̶ó°í ÇÒ ¼ö ÀÖ´Ù. ¹Ý¼º À¯ÀüÀÚ´Â X ¿°»öü À§¿¡ À§Ä¡ÇÏ´Â °Í¸¸ ¾Ë·ÁÁ® ÀÖ°í, ³²¼ºÀ» °áÁ¤ÇÏ´Â Y ¿°»öü À§¿¡´Â ÇöÀç±îÁö ƯÈ÷ È®½ÇÇÑ ÇüÁúÀ» °áÁ¤ÇÏ´Â À¯ÀüÀÚ´Â Á¸ÀçÇÏÁö ¾Ê´Â´Ù°í º¸°í ÀÖ´Ù. À¯ÀüÀÚ¿¡ ÀÇÇÑ ÀÌ»óÀ̳ª º´Àº Ãâ»ýÇÏ´Â ¾Æ±âÀÇ 1 %°¡ ÀÌ¹Ì °¡Áö°í Àְųª ¹ßº´ÇÒ °¡´É¼ºÀ» Áö´Ï°í ÀÖ´Ù. ¿°»öüÀÇ ±¸Á¶ ¶Ç´Â ±¸¼ºÀÇ ÀÌ»ó¿¡ ÀÇÇÏ¿© ÀϾ´Â ¿©·¯ °¡Áö ÀÌ»ó ´Ù¿î ÁõÈıº, ÅÍ³Ê ÁõÈıº, Ŭ¶óÀÎÆçÅÍ ÁõÈıº µîµµ ¿°»öü À§¿¡ À¯ÀüÀÚ°¡ ÀÖ´Ù°í ÇÏ´Â Àǹ̿¡¼­´Â À¯ÀüÇÐÀûÀÎ °ÍÀ̶ó°í ÇÒ ¼ö ÀÖ´Ù. ±×·¯³ª ´ë°³´Â ÀÌ»ó °³Ã¼¸¦ ¸¸µç ¹è¿ìÀÚ
  • hereditary disturbance
    À¯Àü¼º Àå¾Ö
    ¼±ÃµÀûÀ¸·Î ¾î¹öÀ̷κÎÅÍ ÀÚ¼Õ¿¡°Ô ¹°·ÁÁ® ³»¸®´Â Áúº´.
  • hereditary ectodermal dysplasia
    À¯Àü¼º ¿Ü¹è¿±¼º ÀÌÇü¼ºÁõ
  • hereditary enamel hypoplasia
    À¯Àü¼º ¹ý¶ûÁú ÀúÇü¼ºÁõ
    Ä¡¾Æ ¹ý¶ûÁúÀÇ À¯ÀüÀû ºÒ¿ÏÀü Çü¼º ¶Ç´Â ¹ßÀ° ÀÌ»ó.
  • hereditary erythropoietic porphyria
    À¯Àü¼º ÀûÇ÷±¸ Á¶Ç÷¼º Æ÷¸£ÇǸ°Áõ
  • hereditary gingival fibromatosis
    À¯Àü¼º Ä¡Àº ¼¶À¯Á¾Áõ
    ÀüüÀûÀÎ Ä¡ÀºÀÇ °úÀ× Áõ½ÄÀ¸·Î ¿µ±¸ÀüÄ¡ ¸ÍÃ⠽ñ⿡ ³ªÅ¸³­´Ù. À¯Àü ¶Ç´Â ºñÀ¯ÀüÀÇ °æ¿ìµµ ¸¹´Ù. »ó¿°»öü ¿ì¼ºÀ¯ÀüÀ» ÇÏ´Â °æ¿ì°¡ ¸¹´Ù. Ä¡ÀºÀÌ Àüü ¾Ç°ñÀ̳ª ÇÑÂÊ ¾Ç°ñ¿¡ ±¹ÇÑµÇ¾î ¼¶À¯¼º ºñ´ë¸¦ º¸ÀδÙ. ¾î¸°ÀÌ¿¡°Ô È£¹ßÇϸç Ä¡¾ÆÀÇ ¸ÍÃâÀ» ¹æÇØÇÏ´Â °æ¿ì°¡ ¸¹´Ù.
CancerWEB ¿µ¿µ ÀÇÇлçÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 2
hereditary ataxia A simple autosomal recessive trait in fox terrier dogs that produces a progressive general ataxia.
(05 Mar 2000)
hereditary benign intraepithelial dyskeratosis An autosomal dominant condition consisting of white spongy lesions of the buccal mucosa, floor of the mouth, ventral lateral tongue, gingiva and palate. Transient gelatinous plaques form over the cornea, which may produce temporary blindness, hereditary benign intraepithelial dyskeratosis.
Synonym: hereditary benign intraepithelial dyskeratosis.
(05 Mar 2000)
hereditary cerebellar ataxia A disease of later childhood and early adult life, marked by ataxic gait, hesitating and explosive speech, nystagmus, and sometimes optic neuritis. It probably comprises several distinct conditions with diverse patterns of inheritance.
Collective term for a number of hereditary disorders in which cerebellar signs are the most prominent finding.
(05 Mar 2000)
hereditary chorea A progressive disorder usually beginning in young to middle age, consisting of a triad of choreoathetosis, dementia, and autosomal dominant inheritance with complete penetrance. Bilateral marked wasting of the putamen and the head of the caudate nucleus is characteristic.
Synonym: chronic progressive chorea, degenerative chorea, hereditary chorea, Huntington's disease.
(05 Mar 2000)
hereditary coproporphyria <haematology> A group of metabolic disorders that result from a disturbance in porphyrin metabolism, causing increased formation and excretion of porphyrin or its precursors.
Acute intermittent porphyria is a rare inherited form that can result in abdominal pain, photosensitivity and neurological disturbances. The various forms can be differentiated measuring various blood prophyrins.
Inheritance: autosomal dominant.
(27 Sep 1997)
hereditary deafness and nephropathy <nephrology, pathology> An inherited disorder involving damage to the kidneys, haematuria and hearing loss. In some individuals vision may also be affected. This genetic disease is uncommon.
Symptoms include loss of hearing, abnormal colour to urine, swelling, cough and decline in vision.
Inheritance: sex-linked autosomal dominant.
Incidence: 1 in 50,000.
Origin: Gr. Pathos = disease
(27 Sep 1997)
hereditary deforming chondrodystrophy A disturbance of enchondral bone growth in which multiple, generally benign osteochondromas of long bones appear during childhood, commonly with shortening of the radius and fibula; the ill-effects are usually mechanical but malignant change is rare; autosomal dominant inheritance.
Synonym: diaphysial aclasis, hereditary deforming chondrodystrophy, multiple exostosis, osteochondromatosis.
(05 Mar 2000)
hereditary exostosis <radiology> (osteochondromatosis)
Autosomal dominant, M more than F, multiple exostoses, snowflake calcification of mature cartilage cap, may leading to chondrosarcoma, short metacarpals (especially 4th and 5th)
(12 Dec 1998)
hereditary fructose intolerance A metabolic error due to deficiency of hepatic fructose 1,6-bisphosphate aldolase B (which also acts on fructose 1-phosphate); the second enzyme in the specific fructose pathway; vomiting and hypoglycaemia follow ingestion of fructose; prolonged fructose ingestion in young children results in failure to thrive and in jaundice, hepatomegaly, albuminuria, aminoaciduria, and sometimes cachexia and death; autosomal recessive inheritance in most families.
(05 Mar 2000)
hereditary haemorrhagic telangiectasia <gastroenterology> An inherited disease characterised by thin blood vessel walls in the nose, skin and gastrointestinal tract. This condition ins associated with a high risk of bleeding complications.
Inheritance: autosomal dominant.
(27 Sep 1997)
hereditary haemorrhagic thrombasthenia <haematology> A form of congenital platelet functional defect that result in prolongation of the bleeding time. Characteristics include mucosal and post-operative bleeding that may be severe.
(17 Dec 1997)
hereditary hyperthyroidism A rare inherited (autosomal dominant) disorder with constitutive stimulation of the thyrocytes.
(05 Mar 2000)
hereditary hypertrophic neuropathy dejerine-Sottas disease
hereditary lymphedema Permanent pitting oedema usually confined to the legs; two types, congenital (Milroy's disease ), or with onset at about the age of puberty (Meige's disease ); autosomal dominant inheritance.
(05 Mar 2000)
hereditary methemoglobinaemia Methemoglobinaemia due to formation of any one of a group of abnormal a chain or b chain haemoglobins collectively known as haemoglobin M. Slate-gray cyanosis occurs in early infancy, without pulmonary or cardiac disease, and is resistant to ascorbic acid or methylene blue therapy; autosomal dominant inheritance, methemoglobinaemia due to deficiency of cytochrome b5 reductaseor methemoglobin reductase, the enzyme responsible for reduction of intraerythrocyte methemoglobin; cyanosis is improved by ascorbic acid or methylene blue; autosomal recessive inheritance, one case of methemoglobinaemia has been reported that apparently is due to a deficiency of cytochrome b5.
Synonym: hereditary methemoglobinaemia, hereditary methemoglobinaemic cyanosis, primary methemoglobinaemia.
(05 Mar 2000)
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