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"hereditary coagulation disorder"¿¡ ´ëÇÑ °Ë»ö °á°úÀÔ´Ï´Ù. °Ë»ö °á°ú º¸´Â µµÁß¿¡ Tab ۸¦ ´©¸£½Ã¸é °Ë»ö âÀÌ ¼±Åõ˴ϴÙ.
¾Ë±â½¬¿î ÀÇÇпë¾îÇ®ÀÌÁý, ¼­¿ïÀÇ´ë ±³¼ö ÁöÁ¦±Ù, °í·ÁÀÇÇÐ ÃâÆÇ À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 3
¿µ¹® language disorder ÇÑ±Û ¾ð¾îÀå¾Ö
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  ¸»À» ¹Ù¸£°Ô ¹ßÀ½ÇÏÁö ¸øÇϰųª Á¤È®ÇϰԠÀÌÇØÇÏÁö ¸øÇϴ º´Áõ. ±³Åë¼ö´ÜÀ¸·Î¼­ÀÇ ¾ð¾î·Î Á¤º¸¸¦ Àü´ÞÇϴµ¥ À־ÀÇ Àå¾ÖÀÌ´Ù. ¾ð¾î¸¦ ÀÌÇØ, Ç¥ÃâÇϴ »ý¸®ÇÐÀû, ½É¸®ÇÐÀû, ¾ð¾îÇÐÀû, ¹°¸®ÇÐÀû, »çȸÇÐÀûÀΠ°¢ °úÁ¤¿¡¼­ÀÇ Áúº´À̳ª Àå¾Ö·Î ÀÎÇØ ÀϾ¸ç ±× ¿øÀÎÀ̳ª º´Å¿¡ µû¶ó ±¸À½Àå¾Ö, ¸»´õµë, À½¼ºÀå¾Ö, ¾ð¾î¹ß´ÞÁöü, Ã»·ÂÀå¾Ö, ¼±Ãµ±âÇü µî ¸¹Àº Áúº´, Àå¾Ö·Î ¼¼ºÐµÈ´Ù. ¿øÀΠ¹× º´ÅÂÀÇ °Ë»ç, Áø´Ü¿¡´Â ³»°ú, À̺ñÀÎÈİú, Á¤½Å°ú, Ä¡°ú µî ¿©·¯ °ú¸ñ¿¡ °ÉÃÄ Á¤¹ÐÁ¶»ç¸¦ ÇÔ°ú µ¿½Ã¿¡ ¾ð¾î±â´É°Ë»ç¸¦ ÇؾߠÇÑ´Ù.
¿µ¹® personality disorder ÇÑ±Û ÀΰÝÀå¾Ö, ¼º°ÝÀå¾Ö
¼³¸í   
  Å¸°í³­ Àμº°ú ¼ºÀå°úÁ¤ÀÇ ¿©·¯ »ç°Ç, ±×¸®°í ±³À°Á¤µµ¿¡ µû¶ó °³ÀÎÀÇ ÀΰÝÀº Çü¼ºµÈ´Ù. ÀÌ·± ÀΰÝ(¼º°Ý)ÀÌ »çȸ»ýȰ, È¤Àº °¡Á·»ýȰ¿¡ ÁöÀåÀ» Áְųª, ÀÚ±âÀÚ½ÅÀÇ »ýȰ¿¡ ÇÇÇØ¸¦ Áִ °æ¿ì, À̸¦ ÀΰÝÀå¾Ö¶ó ºÎ¸¥´Ù. ½ÇÁ¦·Î ÀÌ·± ÀÏ·ÃÀÇ ¼º°ÝµéÀº ´©±¸³ª Á¤»óÀûÀ¸·Î ³ªÅ¸³¯ ¼ö ÀÖÀ¸³ª, À̻󼺰ÝÀÌ ½ÉÇÑ °æ¿ì Ä¡·áÀÇ ´ë»óÀÌ µÈ´Ù.
¿µ¹® narcissistic personality disorder ÇÑ±Û ÀÚ±â¾ÖÀû ÀΰÝÀå¾Ö
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  ÀÚ½ÅÀÇ Á߿伺°ú µ¶Æ¯ÇÔ, À¯ÀÏÇÔ¿¡ ´ëÇÑ ±¤ÀûÀΠÁýÂø°ú ÀÚ½ÅÀÌ ¼º°øÇÒ °ÍÀ̶ó´Â Áö³ªÄ£ ÁýÂøÀ» º¸¿©Áִ ¼º°ÝÀå¾Ö. Áö³ªÄ£ Àڱ⿡ÀÇ ¸¸Á·°¨À» °¡Áö°í, Áö³ªÄ£ Àڽۨ, ¼º°ø¿¡ ´ëÇÑ È®½ÅÀ» Áö´Ï°í ÀÖ´Ù.
¿µ¹® conversion disorder ÇÑ±Û ÀüȯÀå¾Ö
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  ³»ºÎÀÇ °¥µî¿¡ ´ëÇÑ ¹«ÀǽÄÀû ¹æ¾î¸ÞÄ¿´ÏÁòÀ¸·Î ³»ºÎÀÇ °¥µîÀ» Æ¯Á¤ÇÑ ½ÅüÀÇ Áõ»óÀ¸·Î º¯È¯ÇÏ¿© ³ªÅ¸³»´Â °ÍÀ» ¸» ÇÑ´Ù. ÀÌ ÀüȯÀ¸·Î ÀÎÇÑ Áõ»óÀ» ÁַΠ³ªÅ¸³»´Â Á¤½ÅÁúȯÀ» ÀüȯÀå¾Ö¶ó°í ÇÑ´Ù. ÀüȯÀ¸·Î ÀÎÇÑ Áõ»óÀ¸·Î ´ëÇ¥ÀûÀΠ°ÍÀ¸·Î´Â ¸¶ºñ, °æ·Ã, ÀǽÄÀå¾Ö µîÀÌ´Ù. ´ë°³ ±× º´À» ÀÏÀ¸Å³ ¸¸ÇÑ º´º¯ÀÌ Á¸ÀçÇÏÁö ¾Ê°í, ½É¸®Àû °¥µîÀÌ ½ÉÇÒ °æ¿ì¿¡ ´õ¿í Áõ»óÀÌ ½ÉÇØÁö°í Áõ»óÀÇ ¹ßÇöÀ¸·Î ÀÎÇØ¼­ ³»ºÎÀû °¥µîÀÌ °¨¼ÒµÇ°í Áõ»óÀÇ ¹ßÇöÀ¸·Î ÀÎÇÑ 2Â÷Àû À̵æ(°¡Á·µéÀÇ °ü½ÉÁýÁß, µ¹ºÁÁÜ)ÀÌ Àִ °ÍÀÌ ÀÌ ÀüȯÀå¾ÖÀǠƯ¡ÀÌ´Ù. ´ë°³ ÀÌ ÀüȯÀå¾Ö È¯Àڴ ÀÚ½ÅÀÇ Áúȯ¿¡ ´ëÇØ¼­ Æ¯Â¡ÀûÀ¸·Î ¸Å¿ì ¹«°ü½ÉÇѠŵµ¸¦ ÃëÇÑ´Ù.
¿µ¹® affective disorder ÇÑ±Û Á¤µ¿Àå¾Ö
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  ÁַΠ±âºÐÀÇ Àå¾Ö°¡ ÁÖÃàÀÌ µÇ´Â ÀÏ·ÃÀÇ Á¤½ÅÀå¾ÖÀÌ´Ù. ÀÌ º´ÀÇ ¹üÁÖ¿¡´Â(¿ì¿ïº´£­Áö¼ÓÀûÀ¸·Î ¿ì¿ïÇÑ ±âºÐÀÌ ¿ÜºÎÀڱذú °ü°è¾øÀÌ ³ªÅ¸³ª´Â º´), (Á¶º´£­Áö¼ÓÀûÀ¸·Î µé¶á ±âºÐÀÌ ¿ÜºÎÀڱذú °ü°è¾øÀÌ °è¼ÓµÇ´Â º´) µîÀÌ Æ÷ÇԵȴÙ.
´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 3
  • ¿µ¹®
    ÇѱÛ
  • 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
  • hereditary spastic paraplegia
    À¯Àü°­Á÷ÇϹݽŸ¶ºñ
  • hereditary spherocytosis
    À¯Àü°ø¸ð¾çÀûÇ÷±¸Áõ, À¯Àü±¸ÇüÀûÇ÷±¸Áõ
  • hereditary tremor
    À¯Àü¶³¸²
  • hereditary tubulointerstitial nephritis
    À¯Àü¿ä¼¼°ü»çÀÌÁúÄáÆÏ¿°, À¯Àü¿ä¼¼°ü°£Áú½ÅÀå¿°
´ëÇÑÀÇÇù Çʼö ÀÇÇпë¾îÁý »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 3
  • ¿µ¹®
    ÇѱÛ
  • obsessive-compulsive disorder
    °­¹ÚÀå¾Ö, °­¹Úº´
  • oppositional defiant disorder
    Àû´ëÀû¹ÝÇ×Àå¾Ö
  • panic disorder
    °øÈ²Àå¾Ö, °øÈ²º´
  • paranoid disorder
    (¢¡delusional disorder) ÆíÁýÀå¾Ö, ÆíÁýº´
  • personality disorder
    ÀΰÝÀå¾Ö, ¼º°ÝÀå¾Ö
  • phonation disorder
    ¹ß¼ºÀå¾Ö
  • platelet function disorder
    Ç÷¼ÒÆÇ±â´ÉÀÌ»ó
  • premenstrual dysphoric disorder
    ¿ù°æÀüºÒÄèÀå¾Ö, ¿ù°æÀüºÒÄ躴
  • psychogenic disorder
    Á¤½ÅÅ¿Àå¾Ö, ½ÉÀμºÀå¾Ö
  • reading disorder
    ÀбâÀå¾Ö
  • renal disorder
    ÄáÆÏÀå¾Ö, ½ÅÀåÀå¾Ö
  • schizophreniform disorder
    Á¤½ÅºÐ¿­ÇüÀå¾Ö, Á¤½ÅºÐ¿­Çüº´
  • seizure disorder
    ¹ßÀÛÀå¾Ö
  • sexual disorder
    ¼ºÀå¾Ö
  • somatic disorder
    ½ÅüÀå¾Ö
¿¾ ´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 3
  • ¿µ¹®
    ÇѱÛ
  • hereditary bullous epidermolysis
    À¯Àü¹°ÁýÇ¥Çǹڸ®Áõ
  • hereditary multiple exostosis
    À¯Àü´Ù¹ß»Àµ¹ÃâÁõ
  • hereditary
    À¯Àü-
  • hereditary leptocytosis
    À¯ÀüÇ¥ÀûÀûÇ÷±¸Áõ
  • hereditary lymphedema
    À¯Àü¸²ÇÁºÎÁ¾
  • hereditary spherocytosis
    À¯ÀüµÕ±ÙÀûÇ÷±¸Áõ, À¯Àü±¸ÇüÀûÇ÷±¸Áõ
  • hereditary stigma
    À¯Àü¡ǥ
  • hereditary syphilis
    (¢¡congenital syphilis) ¼±Ãµ¸Åµ¶
  • hereditary trait
    À¯Àü¼ÒÁú
  • hereditary tremor
    (¢¡essential tremor) º»Å¶³¸², À¯Àü¶³¸², ¿øÀθ𸦶³¸²
  • hereditary adrenogenital syndrome
    À¯ÀüºÎ½Å¼º±âÁõÈıº
  • hereditary hemorrhagic telangiectasia
    À¯ÀüÃâÇ÷¸ð¼¼Ç÷°üÈ®ÀåÁõ, À¯ÀüÃâÇ÷½ÇÇÍÁÙÈ®ÀåÁõ
  • hereditary motor sensory neuropathy
    À¯Àü¿îµ¿°¨°¢½Å°æº´Áõ
  • hereditary mutilating keratoma
    À¯ÀüÀý´Ü°¢È­Á¾
  • hereditary palmoplantar keratoderma
    À¯Àü¼Õ¹ß¹Ù´Ú°¢ÁúÇǺÎÁõ
¿¾ ´ëÇÑÀÇÇù 2 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 3
  • ¿µ¹®
    ÇѱÛ
  • hearing disorder
    û·ÂÀå¾Ö
  • hearing loss, congenital hereditary
    ¼±Ãµ(¼º) À¯Àü¼º ³­Ã»
  • hemoglobin disorder
    Ç÷»ö¼ÒÀå¾Ö<--Áúº´>
  • hereditary
    À¯Àü¼ºÀÇ
  • hereditary adrenogenital syndrome
    À¯Àü¼º ºÎ½Å¼º±â¼º ÁõÈıº.
  • hereditary angioedema
    À¯Àü¼º ¸Æ°üºÎÁ¾
  • hereditary angioedema
    À¯Àü¼ºÇ÷°üºÎÁ¾
  • hereditary aphasia
    À¯Àü(¼º) ½Ç¾î(Áõ).
  • hereditary ataxia
    À¯Àü(¼º) ¿îµ¿½ÇÁ¶.
  • hereditary benign intraepithelial dyskeratosis
    À¯Àü¼º ¾ç¼º »óÇdz» ÀÌ»ó°¢È­Áõ
  • hereditary brown enamel
    À¯Àü¼º °¥»ö ¹ý³¶Áú.
  • hereditary brown tooth
    À¯Àü¼º °¥»öÄ¡¾Æ.
  • hereditary bullous epidermolysis ³ª e.bullosa hereditaria
    À¯Àü¼º Ç¥ÇǼöÆ÷Áõ.
  • hereditary cerebellar ataxia
    À¯Àü¼º ¼Ò³ú¼º ¿îµ¿½ÇÁ¶.
  • hereditary cerebellar sclerosis
    À¯Àü¼º ¼Ò³ú°æÈ­Áõ.
¿¾ ´ëÇÑÀÇÇù 3 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 3
  • ¿µ¹®
    ÇѱÛ
  • disseminated intravascular coagulation =DIC
    ÆÄÁ¾¼º Ç÷°ü³»ÀÀ°í(?Ì´Ë´ ?ËôË­).
  • disseminated intravascular coagulation =DIC
    ÆÄÁ¾¼º Ç÷°ü³»ÀÀ°í(¡­úìη Ò®ëêͳ).
  • electric coagulation
    Àü±âÀÀ°í(¹ý)(¡­ëêͳÛö).
  • electric coagulation
    Àü±âÀÀ°í(¹ý)(¡­ÀÀ°í¹ý).
  • endolaser coagulation
    ´«¼Ó·¹ÀÌÀúÀÀ°í(¼ú),¾È³»·¹ÀÌÀúÀÀ°í(¼ú)
  • extrinsic coagulation system
    ¿ÜÀÎ ÀÀ°í°è
  • intravascular coagulation
    Ç÷°ü³»ÀÀ°í.
  • intrinsic coagulation system
    ³»ÀÎÀÀ°í°è
  • light coagulation(¿¾)=>photocoagulation
    ±¤ÀÀ°í
  • milk coagulation
    ÀÀÀ¯(ëêêá), ¿ìÀ¯ÀÀ°í.
  • optimum point of coagulation
    ÃÖÀûÀÀÁýÁ¡ (Ì§ËøËôÌ¤Ëø).
  • optimum point of coagulation
    ÃÖÀûÀÀÁýÁ¡ (õÌîêëêó¢ïÇ).
  • plasma coagulation factor
    Ç÷ÀåÀÀ°íÀÎÀÚ
  • thermal coagulation
    ¿­ÀÀ°í(æðëêͳ).
  • congenital hereditary sensorineural
    ¼±Ãµ(¼º) À¯Àü°¨°¢½Å°æ(¼º)
KMLE ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 3
DIVBC disseminated intravascular blood coagulation
DIVC disseminated intravascular coagulation
FMFD V familial multiple coagulation factor deficiency V
F2R [blood coagulation] factor II receptor
ICF immunodeficiency-centromeric instability-facial anomalies [syndrome]; indirect centrifugal flotation...
KMLE ÀÚµ¿ÃßÃâ ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 3
CHED Congenital Hereditary Endothelial Dystrophy
HANE Hereditary Angio Neurotic Edema
HAE Hereditary Angio-Edema
HCSMA Hereditary Canine Spinal Muscular Atrophy
HCCAA Hereditary Cystatin C Amyloid Angiopathy
°æºÏ´ë Ä¡°ú´ëÇÐ ±¸°­³»°ú ±³½Ç »çÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 3
  • ¿µ¹®
    ÇѱÛ
    ¼³¸í
  • hereditary opalescent dentin
    À¯Àü¼º À¯¹é»ö »ó¾ÆÁú
    »ó¾ÆÁú Çü¼º ºÎÀüÁõ¿¡ ³ªÅ¸³ª´Â À¯¹é±¤À» ¹ß»êÇÏ´Â °Í °°ÀÌ º¸ÀÌ´Â °¥»öÀÇ »ó¾ÆÁú.
  • hereditary porphyria cutanea tarda
    À¯Àü¼º ¸¸¹ß¼º ÇǺΠÆ÷¸£ÇǸ°Áõ
  • hereditary syphilis
    ¼±Ãµ ¸Åµ¶
    µ¿ÀǾî=congenital sy
  • hereditary telangiectasia
    À¯Àü¼º ¸ð¼¼Ç÷°ü È®ÀåÁõ
    ¼±ÃµÀûÀ¸·Î ¸ð¼¼Ç÷°üÀÌ È®ÀåµÇ´Â ÁúȯÀ¸·Î °üÂû ½Ã ¹ÝÁ¡»ó È«¹ÝÀ¸·Î ³ªÅ¸³ª°í °³º°ÀûÀ¸·Î È®ÀåµÈ Ç÷°ü ¾ç»óÀ» °üÂûÇÒ ¼ö ÀÖ´Ù.
  • lebers hereditary optic neuropathy
    ·¹¹ö¾¾ ¼±Ãµ¼º ½Ã½Å°æº´Áõ
  • acquired disorder
    ÈÄõ¼º Àå¾Ö
    ¼±ÃµÀûÀÌ ¾Æ´Ï°í Ãâ»ý ÈÄ Á¤»óÀûÀÎ ¹ßÀ°¿¡ ÀÌ»óÀÌ »ý±â°Å³ª, º¯È­°¡ ¿À°Å³ª, Àå¾Ö°¡ ÀϾ °Í.
  • acute brain disorder
    ±Þ¼º ³úÀå¾Ö
  • adjustment disorder
    ÀûÀÀÀå¾Ö, ÀûÀÀÀå¾Ö º´
  • adjustment sleep disorder
    ÀûÀÀ¼º ¼ö¸éÀå¾Ö, ÀûÀÀ¼º ¼ö¸éÀå¾Ö º´, ¼ö¸é Á¶Á¤ Àå¾Ö, ¼ö¸é Á¶Á¤ Àå¾Ö º´
  • affective disorder
    Á¤µ¿Àå¾Ö
  • antisocial personality disorder
    ¹Ý»çȸÀû ÀÎ°Ý Àå¾Ö
  • anxiety disorder
    ºÒ¾È Àå¾Ö
    °­¹ÚÁõ, ¿Ü»ó ÈÄ ½ºÆ®·¹½ºÀå¾Ö, °øÆ÷Áõ, °øÈ²Àå¾Ö¸¦ Æ÷ÇÔÇÏ´Â ³ÐÀº ÀǹÌÀÇ ½É¸®Àû Áúº´À¸·Î¼­ ºÒ¾È¿¡ ´ëÇÑ ºñÇö½ÇÀûÀ̰í Áö¼ÓÀûÀÎ ´À³¦, ºÒÈ®½Ç¼º, ¹Ì·¡ÀÇ ¿ì·Á³ª À§Çè¿¡ ´ëÇÑ µÎ·Á¿òÀÌ Æ¯Â¡À̸ç, ±äÀå°¨À̳ª ºÒ¾ÈÀ» µ¿¹ÝÇÑ´Ù. À̰ÍÀº ÀûÀÀ ±â´ÉÀÌ Á¦ÇѵǸç, ȯÀÚ¸¦ ¾È½É½Ã۸é Áõ»óÀÌ ¿ÏÈ­µÈ´Ù.
  • articular disorder
    °üÀý Àå¾Ö
  • atypical factitious disorder
    ºñÁ¤Çü °¡À强 Àå¾Ö
  • autoimmune disorder
    ÀÚ°¡ ¸é¿ª Àå¾Ö
    ½Åü°¡ ÀÚ±â Àڽſ¡ ´ëÇØ Àå¾Ö°¡ ÀÖ´Â ¸é¿ª ¹ÝÀÀÀ» ÀÏÀ¸ÄÑ ·ù¸¶Æ¼¼º °üÀý¿°, ÇǺΠ°æÈ­Áõ°ú °°ÀÌ ÀÚ½ÅÀÇ Á¶Á÷ ÆÄ±«¸¦ À¯¹ßÇÏ´Â Áúȯ.
CancerWEB ¿µ¿µ ÀÇÇлçÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 3
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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