¼±Åà - È­»ìǥŰ/¿£ÅÍŰ ´Ý±â - ESC

 
"congenital hereditary endothelial dystrophy"¿¡ ´ëÇÑ °Ë»ö °á°úÀÔ´Ï´Ù. °Ë»ö °á°ú º¸´Â µµÁß¿¡ Tab ۸¦ ´©¸£½Ã¸é °Ë»ö âÀÌ ¼±Åõ˴ϴÙ.
´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 2
  • ¿µ¹®
    ÇѱÛ
  • granular corneal dystrophy
    °ú¸³°¢¸·ÀÌ»óÁõ
  • infantile neuroaxonal dystrophy
    ¿µ¾Æ½Å°æÃà»èµð½ºÆ®·ÎÇÇ
  • lattice corneal dystrophy
    °ÝÀÚ°¢¸·ÀÌ»óÁõ
  • limb-girdle muscular dystrophy
    ÆÈ´Ù¸®ÀÌÀ½±Ù(À°)µð½ºÆ®·ÎÇÇ, Áö´ë±Ùµð½ºÆ®·ÎÇÇ
  • muscular dystrophy
    ±Ù(À°)µð½ºÆ®·ÎÇÇ
  • myotonic dystrophy
    ±Ù(À°)±äÀåµð½ºÆ®·ÎÇÇ
  • median nail dystrophy
    Á¤Áß¼Õ¹ßÅéÀÌ»óÁõ
  • macular corneal dystrophy
    ¹ÝÁ¡°¢¸·ÀÌ»óÁõ
  • oculopharyngeal muscular dystrophy
    ´«ÀεαÙ(À°)µð½ºÆ®·ÎÇÇ
  • progressive muscular dystrophy
    ÁøÇà±Ù(À°)µð½ºÆ®·ÎÇÇ
  • reflex sympathetic dystrophy
    ¹Ý»ç±³°¨½Å°æÀÌ»óÁõ
  • hereditary
    À¯Àü-
  • hereditary ataxia
    À¯Àü½ÇÁ¶
  • hereditary benign intraepithelial dyskeratosis
    À¯Àü¾ç¼º»óÇdz»ÀÌ»ó°¢È­Áõ
  • hereditary cerebellar ataxia
    À¯Àü¼Ò³ú½ÇÁ¶
¿¾ ´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 2
  • ¿µ¹®
    ÇѱÛ
  • lattice corneal dystrophy
    °ÝÀÚ°¢¸·ÀÌ»óÁõ
  • limb-girdle muscular dystrophy
    »çÁö¿¬°á±ÙÀ°ÅðÇàÀ§Ãà, ÆÈ´Ù¸®ÀÌÀ½±ÙÀ°ÅðÇàÀ§Ãà
  • macular corneal dystrophy
    ¹ÝÁ¡°¢¸·ÀÌ»óÁõ
  • median nail dystrophy
    Áß¾Ó¼Õ¹ßÅéÀÌ»óÁõ
  • metachromatic dystrophy
    ÀÌ¿°ÅðÇàÀ§Ãà
  • muscular dystrophy
    ±ÙÀ°ÅðÇàÀ§Ãà
  • myotonic dystrophy
    ±ÙÀ°±äÀåÅðÇàÀ§Ãà
  • myotonic muscular dystrophy
    (¢¡myotonic dystrophy) ±ÙÀ°±äÀåÅðÇàÀ§Ãà
  • oculopharyngeal muscular dystrophy
    ´«ÀεαÙÀ°ÅðÇàÀ§Ãà
  • progressive muscular dystrophy
    ÁøÇà±ÙÀ°ÅðÇàÀ§Ãà
  • reflex sympathetic dystrophy
    ¹Ý»ç±³°¨½Å°æ
  • acyanotic congenital cardiopathy
    ºñû»ö¼±Ãµ½ÉÀ庴Áõ
  • congenital contractural arachnodactyly
    ¼±Ãµ±¸Ãà°Å¹Ì°¡¶ôÁõ
  • congenital oculomotor apraxia
    ¼±ÃµÈ´º¸±â¸øÇÔÁõ
  • congenital
    ¼±Ãµ-
¿¾ ´ëÇÑÀÇÇù 2 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 2
  • ¿µ¹®
    ÇѱÛ
  • infantile spasmodic paraplegia =congenital spas tic p.
    ¼±Ãµ¼º °æ·Ã¼º ¾çÇÏÁö¸¶ºñ, ¼±Ãµ¼º °æ·Ã¼º ÇϹݽŸ¶ºñ(à»ô¸àõÌâÕý àõù»ÚâãóØ«Ýö).
  • infantile spasmodic paraplegia =congenital spas tic p.
    ¼±Ãµ¼º °æ·Ã¼º ¾çÇÏÁö¸¶ºñ, ¼±Ãµ¼º °æ·Ã¼º ÇϹݽŸ¶ºñ(à»ô¸àõÌâÕý àõù»ÚâãóØ«Ýö).
  • pulverulent congenital cataract
    °¡·ç¸ð¾ç¼±Ãµ¹é³»Àå, ºÐ¸»»ó¼±Ãµ¹é³»Àå
  • reduplicated congenital cataract
    Áߺ¹¼±Ãµ¹é³»Àå
  • Fuchs dystrophy
    Ç«½ºÀÌ¿µ¾çÁõ
  • Groenouws dystrophy
    ±×·Ú³ëÀÌ¿µ¾ç(Áõ)
  • Meesman dystrophy
    ¹Ì½º¸¸ÀÌ¿µ¾ç(Áõ)
  • Meesmans corneal dystrophy
    ¹Ì½º¸¸°¢¸·ÀÌ¿µ¾ç(Áõ)
  • Salzmanns nodular corneal dystrophy
    ÀßÂ길°áÀý°¢¸·ÀÌ¿µ¾ç(Áõ)
  • albipunctate retinal dystrophy
    ÈòÁ¡¸Á¸·ÀÌ¿µ¾ç(Áõ)
  • infantile neuroaxonal dystrophy
    ¿µ¾Æ½Å°æÃà»è¼º ÀÌ¿µ¾çÁõ, »çÀÌÅйö°Å¾¾º´.
  • peroneal muscular dystrophy
    ºñ°ñ±ÙÀ§ÃàÁõ(Þ¡ÍéÐÆê×õêñø)
  • pigmentary retinal dystrophy
    »ö¼Ò¸Á¸·ÀÌ¿µ¾çÁõ, ¸Á¸·»ö¼Òº¯¼º
  • progressive muscle dystrophy
    ÁøÇ༺ ±ÙÀÌ¿µ¾çÁõ(òäú¼àõÐÉì¶ç½å×ñø).
  • progressive muscle dystrophy
    ÁøÇ༺ ±ÙÀÌ¿µ¾çÁõ(òäú¼àõ ì¶ç½å×ñø)
¿¾ ´ëÇÑÀÇÇù 3 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 2
  • ¿µ¹®
    ÇѱÛ
  • endothelial cell
    ³»ÇǼ¼Æ÷
  • endothelial cell growth factor
    ³»ÇǼ¼Æ÷ Áõ½ÄÀÎÀÚ
  • endothelial hyperplasia
    ³»ÇǼ¼Æ÷Áõ½Ä
  • endothelial leukocyte
    ³»ÇǼº ¹éÇ÷±¸(?ËÑÌ´Ë´).
  • endothelial leukocyte adhesion molecule
    ³»ÇǼ¼Æ÷¹éÇ÷±¸ À¯ÂøºÐÀÚ
  • endothelial meshwork
    ³»ÇǼ¶À¯ÁÖ
  • fenestrated endothelial cell
    â³»ÇǼ¼Æ÷
  • fusiform endothelial cell
    ¹æÃß³»ÇǼ¼Æ÷
  • intravascular papillary endothelial hyperplasia
    Ç÷°ü³» À¯µÎ¾ç ³»ÇǼ¼Æ÷ Áõ½ÄÁõ
  • iridocorneal-endothelial syndrome
    ȫä°¢¸·³»ÇÇÁõÈıº
  • nonfenestrated endothelial cell
    ¹Îâ³»ÇǼ¼Æ÷
  • papillary endothelial hyperplasia
    À¯µÎ ³»ÇǼ¼Æ÷ Áõ½Ä
  • platelet endothelial cell adhesion molecule 1(pecam-1)
    Ç÷¼ÒÆÇ³»ÇǼ¼Æ÷ºÐÀÚ(úìá³÷ùÒ®ù«á¬øàÝÂí­)1
  • vascular endothelial growth factor
    Ç÷°ü ³»ÇǼ¼Æ÷ ¼ºÀåÀÎÀÚ
  • vascular endothelial growth factor
    ¸Æ°ü³»ÇǼ¼Æ÷¼ºÀåÀÎÀÚ(ØæÎ·Ò®ù«á¬øàà÷íþì×í­)
KMLE ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 2
LCD coal tar solution [liquor carbonis detergens]; lattice corneal dystrophy; liquid crystal diode; loca...
MD Doctor of Medicine [Lat. Medicinae Doctor]; magnesium deficiency; main duct; maintenance dose; major...
CASMD congenital atonic sclerotic muscular dystrophy
CRD carbohydrate-recognition domain; chronic renal disease; chronic respiratory disease; child restraint...
FCMD Fukuyama congenital muscular dystrophy
KMLE ÀÚµ¿ÃßÃâ ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 2
APECED Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy
BMD Becker Muscular Dystrophy
DMD Duchene muscular dystrophy
DMD Duchenne type muscular dystrophy
DM Dystrophy
°æºÏ´ë Ä¡°ú´ëÇÐ ±¸°­³»°ú ±³½Ç »çÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 2
  • ¿µ¹®
    ÇѱÛ
    ¼³¸í
  • fascioscapulohumeral dystrophy
    ¾È¸é °ß°© »ó¿Ï ±ÙÀÌ¿µ¾çÁõ
    »ó¿°»öü ¿ì¼ºÀ¸·Î À¯ÀüµÇ°í ±Ù ¼è¾àÀÌ ¾È¸é°ú °ß°©ºÎ ±ÙÀ°¿¡ ÁÖ·Î ³ªÅ¸³ª³ª Èı⿡´Â ´Ù¸® ±ÙÀ°¿¡µµ ³ªÅ¸³¯ ¼ö ÀÖ´Ù. °ß°©ºÎ ±ÙÀ°ÀÌ ÁַΠħ¹üµÇ±â ¶§¹®¿¡ »ó¿Ï À̵αÙÀ̳ª »ï°¢±Ù¿¡¼­ ±Ù »ý°ËÀ» ÇØ¾ßÇÑ´Ù. º´¸®ÇÐÀû ¼Ò°ßÀº ¹Ì¹ÌÇÏ¿© ¸¹Àº ¼öÀÇ È¯ÀÚ¿¡¼­ ±Ù »ý°Ë»ó ¼Ò¼öÀÇ ¿øÇü ±Ù¼¶À¯¸¸ ³ªÅ¸³ª¼­ °ÅÀÇ Á¤»ó ±ÙÀ°°ú °°ÀÌ º¸ÀÏ ¼ö ÀÖ´Ù. ÀϺΠ±Ù¼¶À¯°¡ Á»¸ÔÀº ±Ù¼¶À¯³ª À±»ýºÐÁö ¼¶À¯¸¦ º¸À̰í NADH °°Àº »êÈ­ È¿¼Ò ¿°»ö¿¡ ÁøÇÏ°Ô ¿°»öµÇ´Â ÀûÀº °¢Áø ±Ù¼¶À¯°¡ ³ªÅ¸³ªÁö¸¸ °¢Áø ±Ù¼¶À¯´Â ±ä°æ¿ø¼º ±Ù À§Ãà°ú °°ÀÌ ÁýÇÕÀ» ÀÌ·ç¾î ³ªÅ¸³ªÁö ¾Ê°í Á¤»ó ±Ù¼¶À¯ »çÀÌ¿¡ »êÀçÇÑ´Ù. ºñ´ë ±Ù¼¶À¯µéÀº ÈçÈ÷ ³ªÅ¸³ªÁö¸¸ Á᫐ ÇÙ, ±Ù¼¶À¯ ºÐÇÒ°ú ¼¶À¯È­´Â ÈçÇÏÁö ¾Ê´Ù.
  • juvenile epithelial corneal dystrophy
    ¿¬¼Ò±â °¢¸· »óÇÇ ¼¼Æ÷ ÀÌ¿µ¾çÁõ
  • myotonic dystrophy
    ±Ù ±äÀ强 ÀÌ¿µ¾çÁõ
    ±Ù ±äÀåÁõ°ú ±Ù µð½ºÆ®·ÎÇÇ¿ÍÀÇ ¼º°ÝÀ» Áß½ÉÀ¸·Î ÇÑ ´Ù°èÅ뼺 À¯Àü¼º ÁúȯÀÌ°í ±Ù ±äÀ强 ÁõÈıº¿¡ ¼ÓÇÏ´Â Áúȯ °¡¿îµ¥ °¡Àå ºóµµ°¡ ³ô´Ù. ±Ù ±äÀåÁõÀº ÀÏÁ¾ÀÇ ´ë»ç¼º ¹Ì¿ÀÆÄƼ·Î¼­ÀÇ º´ÅÂÀÌ°í ¼ÕÀ» Áå µÚ Æì±â ¾î·Æ°í ÇØ¸Ó µîÀ¸·Î µÎµé±ä µÚ ±Ù ¼öÃàÀÌ ºÎÇ®¾î¿À¸¥ ÇüÅ·ΠÁö¼ÓÇÏ´Â °Í µîÀÌ Æ¯Â¡ÀÌ´Ù. º¸Åë »ó¿°»öü¼º ¿ì¼º À¯ÀüÀ̰í ÇÑ ´ë°¡ ³»·Á°¥ ¶§¸¶´Ù ¹ß»ý ¿¬·É ÀúÇϳª ÁßÁõÈ­¸¦ ¼ö¹ÝÇÏ´Â ÁøÇ༺ À¯ÀüÀ» ³ªÅ¸³»´Â °æ¿ì°¡ ¸¹´Ù. Ä¡·á´Â ±Ù ±äÀå¿¡ ´ëÇØ¼­´Â ÇÑ·©À» ÇÇÇÏ°í ¿îµ¿ ½Ã¿¡ ¿ö¹Ö¾÷À» ÇÏ´Â ½À°üÀ» ÀÍÈ÷°Ô ÇÏ´Â °ÍÀε¥ ¾à¹° ¿ä¹ýÀ¸·Î¼­ ÇÁ·ÎÄ«ÀξƸ¶À̵å, µðÆä´ÒÈ÷´ÜÅäÀÎ µîÀÇ Ç×°æ·ÃÁ¦µµ ½ÃµµµÈ´Ù. ±Ù·Â ÀúÇÏ¿Í ±Ù À§Ãà¿¡ ´ëÇØ¼­´Â ÀçȰ ÇÁ·Î±×·¥ÀÇ ½Ç½Ã, ´ç´¢º´, ¹é³»Àå µî¿¡ ´ëÇØ¼­´Â °³°³ÀÇ ÀϹÝÀû Ä¡·á¸¦ ÇàÇÑ´Ù.
  • progressive muscular dystrophy
    ÁøÇ༺ ±Ù ÀÌ¿µ¾çÁõ
  • reflex sympathetic dystrophy
    ¹Ý»ç¼º ±³°¨¼º ¹ßÀ° ÀÌ»ó, ¹Ý»ç¼º ±³°¨½Å°æ ¹ßÀ° ÀÌ»ó, ¹Ý»ç¼º ±³°¨½Å°æ¼º ÀÌ¿µ¾çÁõ, ¹Ý»ç¼º ±³°¨½Å°æ ¿µ¾ç Àå¾Ö
    µ¿ÀǾî=causalgia, Sudeck's atro
  • reflex sympathetic dystrophy syndrome
    ¹Ý»ç ±³°¨½Å°æ¼º À§Ãà ÁõÈıº
  • 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´.
CancerWEB ¿µ¿µ ÀÇÇлçÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 2
endothelial relaxing factor A molecule functioning as a neurotransmitter and produced by activated macrophages. It is capable of killing tumour cells, parasites, and intracellular bacteria.
(05 Mar 2000)
endothelio-endothelial placenta A placenta in which the endothelium of the maternal vessels comes in direct contact with the endothelium of the foetal vessels to form the placental barrier.
(05 Mar 2000)
adiposogenital dystrophy A disorder characterised primarily by obesity and hypogonadotrophic hypogonadism in adolescent boys; dwarfism is rare, and when present is thought to reflect hypothyroidism. Visual loss, behavioural abnormalities, and diabetes insipidus may occur. Frohlich's syndrome often is used synonymously for this disorder, although the original case involved a pituitary tumour; most cases are thought to result from hypothalamic dysfunction in areas regulating appetite and gonadal development. The most common causes are pituitary and hypothalamic neoplasms.
Synonym: adiposis orchica, adiposogenital degeneration, adiposogenital dystrophy, adiposogenital syndrome, hypophysial syndrome, hypothalamic obesity with hypogonadism.
Origin: L. Fr. G. Dys-, bad, + trophe, nourishment
(05 Mar 2000)
adult pseudohypertrophic muscular dystrophy Muscular dystrophy of late onset, often in the second or third decade, with relatively mild course; X-linked recessive inheritance; perhaps allelic with Duchenne's dystrophy, but milder and not a genetic lethal.
Compare: Duchenne dystrophy.
Synonym: Becker type tardive muscular dystrophy.
(05 Mar 2000)
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)
Barnes' dystrophy A rare type of muscular dystrophy, in which muscles are often hypertrophic and stronger than normal, but later become weak and atrophic.
(05 Mar 2000)
Becker's muscular dystrophy An X-linked inherited disorder characterised by slowly progressive muscle weakness of the legs and pelvis. Other symptoms and findings include increased difficulty walking, intellectual retardation, fatigue and pseudohypertrophy of the calf muscles.
(27 Sep 1997)
Becker type muscular dystrophy A muscular dystrophy that has many of the clinical features of Duchenne muscular dystrophy e.g., symmetrical involvement of first the pelvicrural muscles and then the pectoral girdle and proximal upper extremity muscles; pseudohypertrophy, especially of the calf muscles but with a much later age of onset (35-45 years), and more benign course. X-linked inheritance.
(05 Mar 2000)
Becker type tardive muscular dystrophy Muscular dystrophy of late onset, often in the second or third decade, with relatively mild course; X-linked recessive inheritance; perhaps allelic with Duchenne's dystrophy, but milder and not a genetic lethal.
Compare: Duchenne dystrophy.
Synonym: Becker type tardive muscular dystrophy.
(05 Mar 2000)
benign pseudohypertrophic muscular dystrophy <neurology> An X-linked inherited disorder characterised by slowly progressive muscle weakness of the legs and pelvis. Other symptoms and findings include increased difficulty walking, intellectual retardation, fatigue and pseudohypertrophy of the calf muscles.
(06 Aug 1998)
canine hereditary blindness An autosomal dominant condition seen in dogs of the collie and several other breeds.
(05 Mar 2000)
macular dystrophy A group of disorders involving predominately the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the retina, retinal pigment epithelium, Bruch's membrane, choroid, or a combination of these tissues.
See: Stargardt's disease, Best's disease.
(05 Mar 2000)
map-dot-fingerprint dystrophy Fingerprint dystrophy accompanied by map-like patterns and microcystic epithelial inclusions.
(05 Mar 2000)
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