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"hereditary hypophosphatemic rickets with hypercalciuria"¿¡ ´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® rachitis(=rickets) ÇÑ±Û ±¸·çº´
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  ºñŸ¹ÎDÀÇ ºÎÁ·À¸·Î ¹ß»ýÇÑ´Ù. ÁַΠºûÀ» ¸¹ÀÌ ÂÉÀÌÁö ¸øÇÑ ¾î¸°¾ÆÀÌ¿¡°Ô¼­ ¹ß»ýÇÑ´Ù. ºñŸ¹ÎD´Â À§Ã¢ÀÚ°ü¿¡¼­ Ä®½·ÀÇ Èí¼ö¸¦ ÃËÁøÇϰí, ¿ÀÁÜÀ¸·Î Ä®½·ÀÇ ºÐºñ¸¦ °¨¼Ò½ÃÄÑ, Ç÷ÁßÄ®½·³óµµ¿Í Àλ꿰ÀÇ ³óµµ¸¦ Áõ°¡½Ã۴ °ÍÀ¸·Î ¾Ë·ÁÁ® ÀÖ´Ù. µû¶ó¼­ À̰ÍÀÌ ºÎÁ·ÇÒ °æ¿ì Àü¹ÝÀûÀΠ»ÀÀÇ ¼ºÀåÀå¾Ö·Î Å°°¡ Å©Áö ¾Ê°í, ±¸ºÎ·¯Áø °ñ°Ý°ú ½±°Ô ºÎ¼­Áö´Â °ñ°ÝÀ» °¡Áö°Ô µÈ´Ù. Ä¡·á´Â ºñŸ¹ÎDÀÇ °ø±ÞÀÌ´Ù.
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  • ¿µ¹®
    ÇѱÛ
  • hypophosphatemic rickets
    ÀúÀλêÇ÷±¸·çº´
  • hypercalciuria
    °íÄ®½·´¢
  • idiopathic hypercalciuria
    Ư¹ß°íÄ®½·´¢
  • fetal rickets
    žƱ¸·çº´
  • hepatic rickets
    °£¼º±¸·çº´
  • oncogenous rickets
    Á¾¾ç¼º±¸·çº´
  • refractory rickets
    ºñŸ¹ÎDºÒÀÀ±¸·çº´, ºÒÀÀ¼º±¸·çº´
  • renal rickets
    ÄáÆÏ±¸·çº´, ½ÅÀ强±¸·çº´
  • rickets
    ±¸·çº´
  • vitamin D-dependent rickets
    ºñŸ¹ÎDÀÇÁ¸±¸·çº´
  • vitamin D-resistant rickets
    ºñŸ¹ÎDÀúÇ×±¸·çº´
  • congenital hereditary hearing loss
    ¼±ÃµÀ¯Àü³­Ã»
  • hereditary
    À¯Àü-
  • hereditary ataxia
    À¯Àü½ÇÁ¶
  • hereditary benign intraepithelial dyskeratosis
    À¯Àü¾ç¼º»óÇdz»ÀÌ»ó°¢È­Áõ
´ëÇÑÀÇÇù Çʼö ÀÇÇпë¾îÁý »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • hypercalciuria
    °íÄ®½·´¢Áõ
  • rickets
    ±¸·çº´
  • hereditary
    À¯Àü-
  • hereditary motor sensory neuropathy
    À¯Àü¿îµ¿°¨°¢½Å°æº´Áõ
  • hereditary spherocytosis
    À¯ÀüµÕ±ÙÀûÇ÷±¸Áõ, À¯Àü±¸ÇüÀûÇ÷±¸Áõ
¿¾ ´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • hypophosphatemic rickets
    ÀúÀλêÇ÷¼º±¸·íº´
  • hypercalciuria
    °íÄ®½·´¢Áõ
  • idiopathic hypercalciuria
    Ư¹ß°íÄ®½·´¢Áõ
  • resorptive hypercalciuria
    Èí¼ö°íÄ®½·´¢Áõ
  • fetal rickets
    žƱ¸·íº´
  • hepatic rickets
    °£Å¿±¸·íº´
  • oncogenous rickets
    Á¾¾ç±¸·íº´
  • rickets
    ±¸·íº´
  • refractory rickets
    (¢¡vitamin D-resistant rickets) ºñŸ¹ÎµðÀúÇ×±¸·íº´
  • renal rickets
    ÄáÆÏ±¸·íº´, ½ÅÀ屸·íº´
  • vitamin D-dependent rickets
    ºñŸ¹ÎµðÀÇÁ¸±¸·íº´
  • vitamin D-resistant rickets
    ºñŸ¹ÎµðÀúÇ×±¸·íº´
  • hereditary ataxia
    À¯ÀüÁ¶È­¿îµ¿ºÒ´É
  • congenital hereditary hearing loss
    ¼±ÃµÀ¯Àü³­Ã»
  • hereditary chorea
    À¯Àü¹«µµº´
¿¾ ´ëÇÑÀÇÇù 2 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • hypophosphatemic rickets
    ÀúÀλê(¿°)Ç÷¼º ±¸·çº´(¡­àõ ׬ܻ).
  • absorptive hypercalciuria
    (Àå)Èí¼ö¼º °íÄ®½·´¢Áõ
  • hypercalciuria
    °íÄ®½·´¢(Áõ)
  • hypercalciuria
    °í(ÍÔ)Ä®½·´¢(Áõ).
  • hypercalciuria
    °íÄ®½·´¢Áõ
  • hypercalciuria
    °íÄ®½·¿ä
  • idiopathic hypercalciuria
    Ư¹ß¼º °íÄ®½· ´¢(Áõ).
  • Glissonian rickets
    ±Û¸®½¼±¸·çº´.
  • Glissonian rickets
    ±Û¸®½¼ ±¸·çº´.
  • hemorrhagic rickets
    ÃâÇ÷(¼º) ±¸·çº´.
  • hepatic rickets
    °£¼º±¸·çº´(¡­ תܻ).
  • hepatic rickets
    °£¼º ±¸·çº´(¡­ תܻ).
  • infantile rickets
    ¿µ¾Æ±¸·çº´(?ä® ×§Ü»).
  • refractory rickets
    ³­Ä¡±¸·çº´(Ññö½ ׬ܻ).
  • refractory rickets
    ³­Ä¡±¸·çº´(Ññö½ ׬ܻ)
¿¾ ´ëÇÑÀÇÇù 3 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • hypophosphatemic rickets
    ÀúÀλê(¿°)Ç÷¼º ±¸·çº´(¡­àõ ׬ܻ).
  • absorptive hypercalciuria
    (Àå)Èí¼ö¼º °íÄ®½·´¢Áõ
  • hypercalciuria
    °íÄ®½·´¢(Áõ)
  • hypercalciuria
    °íÄ®½·¿ä
  • hypercalciuria
    °í(ÍÔ)Ä®½·´¢(Áõ).
  • hypercalciuria
    °íÄ®½·´¢Áõ
  • idiopathic hypercalciuria
    Ư¹ß¼º °íÄ®½· ´¢(Áõ).
  • resorptive hypercalciuria
    Èí¼ö¼º °úÄ®½·´¢Áõ
  • early rickets
    Á¶±â±¸·çº´(¡­ ×§Ü»).
  • fat rickets
    Áö¹æ ±¸·çº´(ò·Û¸ ±¸·çÜ»), ºñ¸¸¼º ±¸·çº´.
  • fetal rickets
    žƱ¸·çº´.
  • florid rickets
    °³È­¼º ±¸·çº´(ËÒü£àõ תܻ).
  • hemorrhagic rickets
    ÃâÇ÷(¼º) ±¸·çº´.
  • hepatic rickets
    °£¼º ±¸·çº´(¡­ תܻ).
  • hepatic rickets
    °£¼º±¸·çº´(¡­ תܻ).
´ëÇÑ»ýÈ­ÇкÐÀÚ»ý¹°ÇÐȸ ¿ë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • hereditary code
    À¯Àü ºÎÈ£(ë¶îîݬûÜ)
  • hereditary material
    À¯Àü ¹°Áú(ë¶îîÚªòõ)
  • adult rickets
    ¼ºÀÎ ±¸·çº´ (à÷ìÑϣץܻ)
  • rickets
    ±¸·çº´(ϣץܻ)
  • vitamin D-resistant rickets
    ºñŸ¹Î D ÀúÇ×¼º(î½ù÷àõ) ±¸·çº´(±¸·çÜ»)
KI ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 7 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • renal rickets
    ½Å¼º ±¸·çº´
  • rickets
    ±¸·çº´
  • hereditary
    À¯Àü¼ºÀÇ
  • hereditary craniofacial dysostosis
    À¯Àü¼ºµÎ°³¾È¸éÀ̰ñÁõ
  • hereditary disease
    À¯Àüº´
  • hereditary ectodermal polydysplasia
    À¯Àü¼º¿Ü¹è¿±¼º´Ù¹ßÀÌÇü¼ºÁõ
  • hereditary hemorrhagic telangiectasia
    À¯Àü¼ºÃâÇ÷¼º¸ð¼¼Ç÷°üÈ®Àå
KMLE ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 1
HHRH hereditary hypophosphatemic rickets with hypercalciuria; hypothalamic hypophysiotropic releasing hor...
FHR familial hypophosphatemic rickets; fetal heart rate
HPDR hypophosphatemic D-resistant rickets
HR heart rate; hemorrhagic retinopathy; high resolution; higher rate; histamine receptor; hormonal resp...
SLHR sex-linked hypophosphatemic rickets
KMLE ÀÚµ¿ÃßÃâ ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 1
AH Absorptive hypercalciuria
IH Idiopathic hypercalciuria
VDRR Vitamin D resistant rickets
XLH X-Linked hypophosphataemic rickets
HYP hypophosphataemic rickets
°æºÏ´ë Ä¡°ú´ëÇÐ ±¸°­³»°ú ±³½Ç »çÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
    ¼³¸í
  • familial hypophosphatemic rickets

    familial leiomyomatosis cutis et uteri (°¡Á·¼º ÇǺΠÀڱà ±ÙÁ¾Áõ

  • adult rickets
    °ñ¿¬È­Áõ
    ¸ðµç ÁöÁö°ñÀÇ ½ÉÇÑ ±âÇü°ú °ñÀý.
  • renal rickets
    ½Å¼º ±¸·çº´
  • rickets
    ±¸·çº´
    ºñŸ¹Î DÀÇ °áÇÌÀÌ ¿øÀÎÀ¸·Î Á¤»óÀûÀÎ »À Çü¼ºÀÌ Àå¾ÖµÇ´Â °ÍÀ¸·Î, ƯÈ÷ Á¥¸ÔÀÌ, À¯¾Æ¿¡¼­ ÀÚÁÖ º¼ ¼ö ÀÖ´Ù. ±ÙÀ° ¿îµ¿¿¡ ÀÇÇÏ¿© »ÀÀÇ ±¼°îÀÌ »ý±â¸ç, °ñ´Ü, °ñ ¿¬°ñºÎ¿¡ °áÀý»óÀÇ Á¾Ã¢À» º¼ ¼ö ÀÖÀ¸¸ç, õ±ÃÀÇ Æó¼â°¡ ´Ê¾î ±ÙÀ°Åë, µÎºÎ ¹ßÇÑ µîÀ» Ư¡ÀûÀ¸·Î º¼ ¼ö ÀÖ´Ù. ºÎ°©»ó¼± ±â´ÉÀÌ Á¤»óÀ̸é, Ư¼öÇÑ ½Ä¹° ¼·Ãë¿Í ºñŸ¹Î D Åõ¿© ¹× Àϱ¤¿å¿¡ ÀÇÇÏ¿© Ä¡À¯µÈ´Ù.
  • vit D-resistant rickets
    D-ÀúÇ×¼º ±¸·çº´
  • 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
CancerWEB ¿µ¿µ ÀÇÇлçÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
familial hypophosphatemic rickets <radiology> X-linked recessive, defect in renal tubular resorption of phosphate, presents at 1 yr, progressive limb deformities X-ray: less severe changes than other rickets, presents later Differential diagnosis features: family hx, normal serum calcium, marked hypophosphataemia (decreased PO4), no secondary hyperparathyroidism
(12 Dec 1998)
hypercalciuria <biochemistry> The excretion of abnormally large amounts of calcium in the urine, seen in cases of hyperparathyroidism.
Origin: Gr. Ouron = urine
(11 Jan 1998)
acute rickets Bone changes seen in infantile scurvy, consisting of subperiosteal haemorrhage and deficient osteoid tissue formation; often used to indicate simultaneous occurrence of rickets and scurvy.
Synonym: acute rickets.
Hereditary hypophosphatemic rickets, with hypercalciuria, an inherited disorder in which there is a defect in renal tubular reabsorption.
(05 Mar 2000)
adult rickets <pathology> A condition marked by softening of the bones (due to impaired mineralisation, with excess accumulation of osteoid), with pain, tenderness, muscular weakness, anorexia and loss of weight, resulting from deficiency of vitamin D and calcium.
Origin: Gr. Malakia = softness
(18 Nov 1997)
refractory rickets Rickets that does not respond to treatment with usual doses of vitamin D and adequate dietary calcium and phosphorus. Most often due to inherited renal tubular disorder e.g., Fanconi syndrome.
Renal rickets, a form of rickets occurring in children in association with and apparently caused by renal disease with hyperphosphatemia.
Synonym: pseudorickets, renal fibrocystic osteosis, renal infantilism, renal osteitis fibrosa.
(05 Mar 2000)
vitamin d-resistant rickets <radiology> X-linked recessive, defect in renal tubular resorption of phosphate, presents at 1 yr, progressive limb deformities X-ray: less severe changes than other rickets, presents later Differential diagnosis features: family hx, normal serum calcium, marked hypophosphataemia (decreased PO4), no secondary hyperparathyroidism
(12 Dec 1998)
rickets <rheumatology, orthopaedics> A condition caused by deficiency of vitamin D, especially in infancy and childhood, with disturbance of normal ossification.
The disease is marked by bending and distortion of the bones under muscular action, by the formation of nodular enlargements on the ends and sides of the bones, by delayed closure of the fontanelles, pain in the muscles and sweating of the head. Vitamin D and sunlight together with an adequate diet are curative, provided that the parathyroid glands are functioning properly.
Origin: Gr. Rhachitis = a spinal complaint
(18 Nov 1997)
coeliac rickets Arrested growth, and osseous deformities associated with defective absorption of fat and calcium in coeliac disease.
(05 Mar 2000)
haemorrhagic rickets Bone changes seen in infantile scurvy, consisting of subperiosteal haemorrhage and deficient osteoid tissue formation; often used to indicate simultaneous occurrence of rickets and scurvy.
Synonym: acute rickets.
Hereditary hypophosphatemic rickets, with hypercalciuria, an inherited disorder in which there is a defect in renal tubular reabsorption.
(05 Mar 2000)
scurvy rickets infantile scurvy
late rickets <pathology> A condition marked by softening of the bones (due to impaired mineralisation, with excess accumulation of osteoid), with pain, tenderness, muscular weakness, anorexia and loss of weight, resulting from deficiency of vitamin D and calcium.
Origin: Gr. Malakia = softness
(18 Nov 1997)
Albright's hereditary osteodystrophy An inherited form of hyperparathyroidism associated with ectopic calcification and ossification and skeletal defects, notably the small fourth metacarpals, but intelligence is normal. There are dominant, recessive and X-linked forms.
See: pseudohypoparathyroidism.
Synonym: Albright's syndrome.
(05 Mar 2000)
angioedema, hereditary A genetic form of angioedema. (Angioedema is also referred to as Quinke's disease.) Persons with it are born lacking an inhibitor protein (called C1 esterase inhibitor) that normally prevents activation of a cascade of proteins leading to the swelling of angioedema. Patients can develop recurrent attacks of swollen tissues, pain in the abdomen, and swelling of the voice box (larynx) which can compromise breathing. The diagnosis is suspected with a history of recurrent angioedema. It is confirmed by finding abnormally low levels of C1 esterase inhibitor in the blood. Treatment options include antihistamines and male steroids (androgens) that can also prevent the recurrent attacks. Also called hereditary angioneurotic oedema.
(12 Dec 1998)
angioneurotic oedema, hereditary A genetic form of angioedema. (Angioedema is also referred to as Quinke's disease.) Persons with it are born lacking an inhibitor protein (called C1 esterase inhibitor) that normally prevents activation of a cascade of proteins leading to the swelling of angioedema. Patients can develop recurrent attacks of swollen tissues, pain in the abdomen, and swelling of the voice box (larynx) which can compromise breathing. The diagnosis is suspected with a history of recurrent angioedema. It is confirmed by finding abnormally low levels of C1 esterase inhibitor in the blood. Treatment options include antihistamines and male steroids (androgens) that can also prevent the recurrent attacks. Also called hereditary angioedema.
(12 Dec 1998)
canine hereditary blindness An autosomal dominant condition seen in dogs of the collie and several other breeds.
(05 Mar 2000)
ÇÑ¿µ/¿µÇÑ »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • rickets
    ±¸·çº´
  • rickets
    ±¸·çº´;°ñ¿¬È­Áõ
  • hereditary
    À¯Àü¼ºÀÇ; ¼¼½ÀÀÇ
  • hereditary
    À¯ÀüÀÇ;¼¼½ÀÀÇ;´ë´ëÀÇ
  • hereditary peer
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