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"generalized essential telangiectasia"¿¡ ´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: 1
  • ¿µ¹®
    ÇѱÛ
  • essential telangiectasia
    º»Å¸ð¼¼Ç÷°üÈ®Àå(Áõ)
  • ataxia telangiectasia
    ¸ð¼¼°üÈ®Àå½ÇÁ¶
  • hereditary hemorrhagic telangiectasia
    À¯Àü¼ºÃâÇ÷¸ð¼¼Ç÷°üÈ®ÀåÁõ
  • periungual telangiectasia
    ¼Õ¹ßÅéÁÖÀ§¸ð¼¼Ç÷°üÈ®Àå(Áõ)
  • spider telangiectasia
    °Å¹Ì¸ð¼¼Ç÷°üÈ®Àå(Áõ)
  • telangiectasia
    ¸ð¼¼Ç÷°üÈ®Àå(Áõ)
  • unilateral nevoid telangiectasia
    ÀÏÃø¸ð¹Ý¸ð¼¼Ç÷°üÈ®Àå(Áõ)
  • congenital generalized fibromatosis
    ¼±ÃµÀü½Å¼¶À¯Á¾Áõ
  • generalized
    1. Àü½Å- 2. Àü¹Ý-
  • generalized amyloidosis
    Àü½Å¾Æ¹Ð·ÎÀ̵åÁõ
  • generalized anaphylaxis
    Àü½Å¾Æ³ªÇʶô½Ã½º
  • generalized anxiety disorder
    ¹üºÒ¾ÈÀå¾Ö
  • generalized dermatitis
    Àü½ÅÇǺο°
  • generalized epilepsy
    Àü½Å°£Áú
  • generalized infection
    Àü½Å°¨¿°
´ëÇÑÀÇÇù Çʼö ÀÇÇпë¾îÁý »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 6 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • telangiectasia
    ¸ð¼¼Ç÷°üÈ®Àå, ½ÇÇÍÁÙÈ®Àå
  • essential tremor
    º»Å¶³¸², À¯Àü¶³¸², ¿øÀθ𸦶³¸²
  • essential vertigo
    ¿øÀκҸí¾îÁö·³, º»ÅÂÇö±âÁõ
  • generalized epilepsy
    Àü½Å°£Áú
  • generalized peritonitis
    ¹üº¹¸·¿°, ¿Â¹è¸·¿°
  • generalized seizure
    ´ë¹ßÀÛ
¿¾ ´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • essential telangiectasia
    º»Å¸ð¼¼Ç÷°üÈ®ÀåÁõ,
  • ataxia telangiectasia
    ¸ð¼¼Ç÷°üÈ®À强Á¶È­¿îµ¿ºÒ´É
  • arborizing telangiectasia
    ºÐÁö¸ð¼¼Ç÷°üÈ®ÀåÁõ, °¡Áö½ÇÇÍÁÙÈ®ÀåÁõ
  • hereditary hemorrhagic telangiectasia
    À¯ÀüÃâÇ÷¸ð¼¼Ç÷°üÈ®ÀåÁõ, À¯ÀüÃâÇ÷½ÇÇÍÁÙÈ®ÀåÁõ
  • periungual telangiectasia
    ¼Õ¹ßÅéÁÖÀ§¸ð¼¼Ç÷°üÈ®ÀåÁõ
  • spider telangiectasia
    (¢¡spider telangiectasis) °Å¹Ì¸ð¼¼Ç÷°üÈ®ÀåÁõ, °Å¹Ì½ÇÇÍÁÙÈ®ÀåÁõ
  • telangiectasia
    ½ÇÇÍÁÙÈ®ÀåÁõ, ¸ð¼¼Ç÷°üÈ®ÀåÁõ
  • telangiectasia
    Âü½ÇÇÍÁÙÈ®ÀåÁõ
  • unilateral nevoid telangiectasia
    ÀÏÃø¸ð¹Ý¸ð¼¼Ç÷°üÈ®ÀåÁõ, ÇÑÂʸð¹Ý½ÇÇÍÁÙÈ®ÀåÁõ
  • generalized amyloidosis
    Àü½Å¾Æ¹Ð·ÎÀ̵åÁõ
  • generalized anaphylaxis
    Àü½Å¾Æ³ªÇʶô½Ã½º
  • congenital generalized fibromatosis
    ¼±ÃµÀü½Å¼¶À¯Á¾Áõ
  • generalized dermatitis
    Àü½ÅÇǺο°
  • generalized anxiety disorder
    ¹üºÒ¾ÈÀå¾Ö
  • generalized obstructive lung disease
    ¹ü¹ßÆó¼âÆóº´
¿¾ ´ëÇÑÀÇÇù 2 ÀÇÇпë¾î »çÀü °Ë»ö ¸ÂÃã °Ë»ö °á°ú : 1 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • generalized essential telangiectasia
    Àü½Å¼º º»Å¼º ¸ð¼¼Ç÷°ü È®Àå(Áõ)
¿¾ ´ëÇÑÀÇÇù 2 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • hypertension,essential
    º»Å¼º(Üâ÷¾àõ)
  • CRST(Calcinosis, Raynauds phenomenon, Sclerodactyly, Telangiectasia) syndrome
    CRST ÁõÈıº.
  • arborizing telangiectasia
    ºÐÁö ¸ð¼¼Ç÷°ü È®Àå
  • hereditary hemorhagic telangiectasia(osler-weber-rendu disease,)
    À¯Àü¼ºÃâÇ÷¼º¸ð¼¼Ç÷°ü È®Àå
  • hereditary hemorrhagic telangiectasia
    À¯Àü(¼º) ÃâÇ÷¼º ¸ð¼¼(Ç÷)°üÈ®Àå.
  • hereditary hemorrhagic telangiectasia
    À¯Àü¼º ÃâÇ÷ Ç÷°üÈ®Àå
  • pregnancy,spider telangiectasia
    °Å¹Ì¸ð¾çÇ÷°üÈ®ÀåÁõ(¸ð¼¼Ç÷°üÈ®ÀåÁõ)(¡­Ù¼åÆúìηüªíåñø(Ù¾á¬úìηüªíåñø))
  • Herlitz disease => generalized junctinal epidermolysis bullosa
    Àü½Å¼º °æ°è¼º ¼öÆ÷¼º Ç¥Çǹڸ®Áõ
  • generalized
    Àü½Å(¼º)ÀÇ.
  • generalized amyloidosis
    Àü½Å¼º ¾Æ¹Ð·ÎÀ̵åÁõ.
  • generalized anaphylaxis
    Àü½Å¾Æ³ªÇʶô ½Ã½º.
  • generalized anaphylaxis
    Àü½Å ¾Æ³ªÇʶô½Ã½º
  • generalized annular granuloma
    Àü½Å¼º ȯ»ó À°¾ÆÁ¾
  • generalized anxiety disorder
    ¹üºÒ¾ÈÀå¾Ö(ÛñÝÕäÌî¡äô)(º´)
  • generalized arteriolosclerosis
    Àü½Å¼º ¼Òµ¿¸Æ°æÈ­Áõ.
¿¾ ´ëÇÑÀÇÇù 3 ÀÇÇпë¾î »çÀü °Ë»ö ¸ÂÃã °Ë»ö °á°ú : 1 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • generalized essential telangiectasia
    Àü½Å¼º º»Å¼º ¸ð¼¼Ç÷°ü È®Àå(Áõ)
¿¾ ´ëÇÑÀÇÇù 3 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • essential telangiectasia
    º»Å¼º(Üâ÷¾àõ) ¸ð¼¼Ç÷°ü È®Àå
  • arborizing telangiectasia
    ºÐÁö ¸ð¼¼Ç÷°ü È®Àå
  • ataxia telangiectasia
    Ç÷°üÈ®À强 ¿îµ¿½ÇÁ¶Áõ.
  • ataxia telangiectasia
    ¸ð¼¼Ç÷°üÈ®À强(Ç÷°üÈ®À强) ¿îµ¿½ÇÁ¶Áõ(Ù½á¬úìηüªíåàõê¡ÔÑã÷ðàñø)
  • ataxia-telangiectasia
    Ç÷°üÈ®À强 ¿îµ¿½ÇÁ¶Áõ
  • ataxia-telangiectasia
    ¸ð¼¼Ç÷°üÈ®À强¿îµ¿½ÇÁ¶
  • familial telangiectasia
    °¡Á·¼º ¸ð¼¼Ç÷°ü È®Àå
  • hereditary hemorhagic telangiectasia(osler-weber-rendu disease,)
    À¯Àü¼ºÃâÇ÷¼º¸ð¼¼Ç÷°ü È®Àå
  • hereditary hemorrhagic telangiectasia
    À¯Àü¼º ÃâÇ÷ Ç÷°üÈ®Àå
  • hereditary hemorrhagic telangiectasia
    À¯Àü(¼º) ÃâÇ÷¼º ¸ð¼¼(Ç÷)°üÈ®Àå.
  • oculocutaneous telangiectasia
    ¾ÈÇǺθð¼¼Ç÷°üÈ®ÀåÁõ(äÑù«Ý±Ù¾á¬úìηüªíåñø)
  • oculocutaneous telangiectasia
    ¾ÈÇǺθð¼¼Ç÷°üÈ®Àå
  • periungual telangiectasia
    ¼Õ¹ßÅéÁÖÀ§ ¸ð¼¼Ç÷°üÈ®Àå(Áõ)
  • pregnancy,spider telangiectasia
    °Å¹Ì¸ð¾çÇ÷°üÈ®ÀåÁõ(¸ð¼¼Ç÷°üÈ®ÀåÁõ)(¡­Ù¼åÆúìηüªíåñø(Ù¾á¬úìηüªíåñø))
  • senile telangiectasia
    ³ëÀμº ¸ð¼¼Ç÷°üÈ®Àå
´ëÇѱâ»ýÃæÇÐȸ ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 1 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • generalized paragonimiasis
    Àü½ÅÆóÈíÃæÁõ
´ëÇÑ»ýÈ­ÇкÐÀÚ»ý¹°ÇÐȸ ¿ë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 10 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • generalized gangliosidosis
    Àü½Å¼º(îïãóàõ) °»±Û¸®¿À»çÀ̵åÁõ(ñø)
  • generalized transduction
    º¸Åë ÇüÁúµµÀÔ(û¡òõ Óôìý)
  • essential amino acid
    Çʼö(ù±âÎ) ¾Æ¹Ì³ë»ê(ß«)
  • essential amino acid index
    Çʼö(ù±âÎ) ¾Æ¹Ì³ë»ê(ß«) Áö¼ö(ò¦â¦)
  • essential enzyme
    Çʼö È¿¼Ò (ù±âÎý£áÈ)
  • essential fatty acid
    Çʼö Áö¹æ»ê (ù±âÎò·Û¸ß«)
  • essential gene
    Çʼö À¯ÀüÀÚ (ù±âÎë¶îîí­)
  • essential metabolite
    Çʼö ´ë»ç¹° (ù±âÎÓÛÞóÚª)
  • essential nutrient
    Çʼö ¿µ¾ç¼Ò (ù±âÎç½å×áÈ)
  • essential oil
    ÇʼöÀ¯(ù±âÎêú)
KI ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 3 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • essential hypertension
    º»Å¼º°íÇ÷¾Ð
  • generalized infection
    Àü½Å°¨¿°
  • hereditary hemorrhagic telangiectasia
    À¯Àü¼ºÃâÇ÷¼º¸ð¼¼Ç÷°üÈ®Àå
KMLE ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 1
ET educational therapy; effective temperature; ejection time; embryo transfer; endothelin; endotoxin; e...
CREST Syndrome   1. Calcinosis cutis
  2. Raynaud's phenomenon
  3. Esophageal ...
CRST Syndrome   1. Calcinosis
  2. Raynaud's Phenomenon
  3. Sclerodactyly
...
A-T ataxia telangiectasia
CREST calcinosis, Raynaud phenomenon, esophageal involvement, sclerodactyly, and telangiectasia [syndrome]...
KMLE ÀÚµ¿ÃßÃâ ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 1
ATM Ataxia Telangiectasia Mutated
HHT Hereditary Haemorrhagic Telangiectasia
HHT1 Hereditary Haemorrhagic Telangiectasia Type 1
AGEP Acute generalized exanthematous pustulosis
GEE Generalized Estimating Equation
°æºÏ´ë Ä¡°ú´ëÇÐ ±¸°­³»°ú ±³½Ç »çÀü À¯»ç °Ë»ö °á°ú : 12 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
    ¼³¸í
  • persistent generalized lymphadenopathy
    Áö¼ÓÀûÀÎ Àü½Å ¸²ÇÁÀýÁõ
  • 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.
  • telangiectasia
    ¸ð¼¼°ü È®ÀåÁõ, ¸ð¼¼Ç÷°ü È®ÀåÁõ
    µ¿ÀǾî=telagiectasis. 1. ÀÌ¹Ì Á¸ÀçÇÏ´Â Ç÷°ü
  • telangiectasia papulosa disseminata µ¿ÀǾî=cherry hemangioma.

    telangiectasis

    ¸ð¼¼Ç÷°ü È®ÀåÁõ, ¸»ÃÊÇ÷°ü È®Àå
    ¸ð¼¼°ü¸Æ ¶Ç´Â Á¾¸» µ¿¸ÆÀÇ È®Àå¿¡ ÀÇÇØ¼­ Çü¼ºµÇ´Â ¹ÝÁ¡À¸·Î¼­ ¸¹Àº °ÍÀº ÇǺο¡ ¹ßÇöµÈ´Ù.
  • Eagle`s minimal essential medium
    ÀÌ±Û ¹èÁö
    ¼¼Æ÷ ¹è¾ç¾×ÀÇ ÀÏÁ¾. 3Á¾·ùÀÇ ¾Æ¹Ì³ë»ê°ú 8Á¾·ùÀÇ ºñŸ¹ÎÀ» ÇÔÀ¯Çϰí ÀÖÀ¸¸ç º¸Åë Ç÷û 5% ÀÌÇÏ¿¡¼­ À¯Áö ¹èÁö·Î¼­ »ç¿ëµÇ°í 10-20%ÀÇ Ç÷û ÷°¡·Î ¸¹Àº ¼¼Æ÷´Â ±ØÈ÷ ¾çÈ£ÇÑ ¹ßÀ°À» ³ªÅ¸³½´Ù.
  • essential amino acid
    Çʼö ¾Æ¹Ì³ë»ê
    ´Ü¹éÁúÀÇ ±âº» ±¸¼º ´ÜÀ§. ´Ü¹éÁúÀº ü³»¿¡¼­ ¾Æ¹Ì³ë»êÀ¸·Î ºÐÇØµÇ°í ³ª¼­ Èí¼ö, ÀÌ¿ëµÈ´Ù. µû¶ó¼­ ´Ü¹éÁúÀÇ ¿µ¾ç°¡´Â ±× ¼Ó¿¡ ÇÔÀ¯µÇ´Â ¾Æ¹Ì³ë»êÀÇ Á¾·ù¿Í ¾ç¿¡ ÀÇÇÏ¿© Á¤ÇØÁø´Ù. ¾Æ¹Ì³ë»êÀº µ¿¹°ÀÇ Ã¼³»¿¡¼­ ´Ù¸¥ ¾Æ¹Ì³ë»êÀ¸·ÎºÎÅÍ ¸¸µé¾îÁö´Â °Í°ú, ü³»¿¡¼­´Â ÇÕ¼ºµÇÁö ¾Ê°í À½½ÄÀ¸·Î ¼·ÃëµÇ¾î¾ß ÇÏ´Â °ÍÀÌ ÀÖ´Ù. µû¶ó¼­ ¼·ÃëÇÏÁö ¾ÊÀ¸¸é ¿ÏÀüÇÑ ´Ü¹éÁúÀÌ µÇÁö ¾Ê´Â´Ù. ÀÌ·¸°Ô ü³»¿¡¼­ ÇÕ¼ºÇÒ ¼ö ¾ø´Â ¾Æ¹Ì³ë»êÀ» Çʼö ¾Æ¹Ì³ë»ê ¶Ç´Â ºÒ°¡°á ¾Æ¹Ì³ë»êÀ̶ó°í ÇÑ´Ù. Çʼö ¾Æ¹Ì³ë»êÀÇ Á¾·ù´Â µ¿¹°ÀÇ Á¾·ù³ª ¼ºÀå ½Ã±â¿¡ µû¶ó ´Ù¸£Áö¸¸, ¼ºÀÎÀÇ °æ¿ì¿¡´Â ´ÙÀ½ÀÇ 8Á¾ÀÌ´Ù. À̼ҷù½Å, ·ù½Å, ¸®½Å, Æä´Ò¾Ë¶ó´Ñ, ¸ÞƼ¿À´Ñ, Æ®·¹¿À´Ñ, Æ®¸³ÅäÆÇ, ¹ß¸°ÀÌ´Ù. ¾î¸°¾ÆÀÌÀÇ °æ¿ì¿¡´Â ¿©±â¿¡ È÷½ºÆ¼µòÀÌ ´õÇØÁø´Ù.
  • essential fatty acid
    Çʼö Áö¹æ»ê
    °íµîµ¿¹°ÀÇ ¼ºÀå ¶Ç´Â °Ç°­ »óÅÂÀÇ À¯Áö¸¦ À§ÇÏ¿© ü¿Ü·ÎºÎÅÍ ¼·ÃëÇØ¾ß ÇÒ Áö¹æ»ê. ºñŸ¹Î F¶ó°íµµ ÇÑ´Ù. Áö¹æÀº ü³»¿¡¼­ ÁÖ·Î ¿¡³ÊÁö¿øÀÌ µÇ¹Ç·Î ´Ù¸¥ °ÍÀ¸·ÎºÎÅÍ Ä®·Î¸®¸¦ ÃëÇϸé Áö¹æÀº ÇÊ¿ä¾øÁö ¾ÊÀº°¡ ÇÏ´Â Àǹ®ÀÌ »ý±ä´Ù. ±×·¯³ª À½½Ä ¼Ó¿¡ Áö¹æÀÌ ÀüÇô ¾øÀ¸¸é µ¿¹°ÀÇ ¼ºÀåÀÌ Á¤ÁöÇÏ°í Æ¯À¯ÇÑ ÇǺο°ÀÌ »ý±ä´Ù. ÀÌ Áõ¼¼´Â ¸®³î»ê, ¸®³î·»»ê, ¾Æ¶ó۵·»ê Áß ¾î´À °ÍÀ» ÇÔÀ¯ÇÏ´Â Áö¹æÀ» Åõ¿©Çϸé Ä¡À¯µÈ´Ù. ±×·¡¼­ À̵é Áö¹æÀ» ¾Æ¹Ì³ë»êÀÇ ¿¹¿¡ µû¶ó Çʼö Áö¹æ»êÀ̶ó°í ÇÑ´Ù. ÀÌ»óÀÇ ¼¼ °¡Áö Áö¹æ»ê Áß¿¡¼­ ¸®³î»êÀº ÀϹÝÀûÀÎ À¯Áö¿¡ ³Î¸® ÇÔÀ¯µÇ¾î ÀÖÀ¸¹Ç·Î, º¸ÅëÀÇ Áö¹æÀ» ¼·ÃëÇϸé Áö¹æ»êÀÌ °áÇÌÇÏ´Â ÀÏÀº ¾ø´Ù.
  • essential hypertension
    º»Å¼º °íÇ÷¾Ð
    1. Ưº°ÇÑ ¿øÀÎÀÌ ¾Ë·ÁÁöÁö ¾ÊÀº °íÇ÷¾ÐÀ» ÀǹÌÇϸç ÀÌ´Â Àüü °íÇ÷¾Ð ȯÀÚÀÇ 85-90£¥¸¦ Â÷ÁöÇÑ´Ù. 2. À¯Àü, Á¤½ÅÀû ½ºÆ®·¹½º, ¿°ºÐÀÇ Áõ°¡ µî Ç÷¾Ð »ó½ÂÀÌ º¹ÇÕÀûÀÎ ¿øÀÎ ÇüÅ·Π³ªÅ¸³­´Ù.
  • essential mixed cryoglobulinemia
    ¿ø¹ß¼º È¥ÇÕ ÇѳÃ-±Û·Îºí¸°Áõ
    µå¹® Àü½Å¼º ÁúȯÀ¸·Î¼­ IgG-IgM º¹ÇÕü°¡ ÁÖ ¼ººÐÀÎ ÇѳÃ-±Û·Îºí¸°ÀÇ Ä§ÂøÀ¸·Î ÇǺΠÇ÷°ü¿°, Ȱ¸·¿° ¹× ÃÊÁ¡¼º ³»Áö ¹Ì¸¸¼º Áõ½Ä¼º »ç±¸Ã¼ ½Å¿°ÀÌ ³ªÅ¸³­´Ù. CÇü °£¿°°ú °°Àº °¨¿°¿¡ ¼Ó¹ßÇÏ´Â ÇѳÃ-±Û·Îºí¸°Ç÷Áõ¿¡¼­´Â ¸·Áõ½Ä¼º »ç±¸Ã¼ ½Å¿°ÀÌ °üÂûµÇ±âµµ ÇÑ´Ù.
  • essential oil
    Á¤À¯
  • essential tremor
    Ư¹ß¼º ÁøÀü
    ¾ç¼ºÀÇ À¯ÀüÀû °¡Á·Àû Ãßü ¼¼Æ÷¿Ü ÁøÀü
  • minimum essential medium
    ÃÖ¼Ò Çʼö ¹èÁö
CancerWEB ¿µ¿µ ÀÇÇлçÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
essential telangiectasia Localised capillary dilation of undetermined origin.
Synonym: angioma serpiginosum.
(05 Mar 2000)
ataxia-telangiectasia <neurology, oncology> An intriguing autosomal recessive disorder in which a single defective gene produces myriad and protean effects, presents with cerebellar ataxia, telangiectasias in the eyes and skin, immune deficiency and autoimmune phenomena, propensity for lymphoid and other malignancies, excessive sensitivity to ionising radiation, increased serum alpha-fetoprotein concentrations and a tendency for chromosome breakage and translocation.
A syndrome characterised by choreoathetosis beginning in childhood, progressive cerebellar ataxia, telangiectasis of conjunctiva and skin, slowly progressive mental deterioration and increasing cerebellar degeneration.
There is evidence that heterozygotes show an increased susceptibility to malignancy as well, with breast cancer often cited. The gene was localised by linkage studies to chromosome 11q22-23, and recently cloned, revealing it to be homologous to the PI-3 kinase family so that prenatal diagnosis by RFLP analysis is possible.
Other related genes are suspected to exist. Diagnosis in affected patients is made on clinical grounds, by detection of high concentrations of alpha-fetoprotein, and by a specialised cell culture assay for radiosensitivity and atypical radioresistant DNA synthesis. These cell culture methods are also used for prenatal diagnosis.
A characteristic autopsy feature of ataxia-telangiectasia is the presence of empty basket cells in the cerebellum which results from degeneration of the previously contained Purkinje cells.
Inheritance: autosomal recessive.
(16 Dec 1998)
ataxia telangiectasia syndrome ataxia telangiectasia
cephalo-oculocutaneous telangiectasia An angioma involving the skin of the face, orbit, meninges, and brain.
See: Sturge-Weber syndrome.
(05 Mar 2000)
primary telangiectasia angioma serpiginosum
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)
secondary telangiectasia Telangiectasia related to a known cause of prolonged dermal vascular dilatation such as sunlight, varicose veins, and connective tissue diseases; often associated with atrophy of the skin.
(05 Mar 2000)
spider telangiectasia spider angioma
telangiectasia <clinical sign> A permanent dilation of preexisting blood vessels (capillaries, arterioles, venules), creating small focal red lesions, usually in the skin or mucous membranes. Also called telangiectasis.
(16 Dec 1997)
telangiectasia, hereditary haemorrhagic An autosomal dominant vascular anomaly characterised by the presence of multiple small telangiectases of the skin, mucous membranes, gastrointestinal tract, and other organs, associated with recurrent episodes of bleeding from affected sites and gross or occult melena.
(12 Dec 1998)
telangiectasia lymphatica Dilatation of the lymphatic vessels.
(12 Dec 1998)
telangiectasia macularis eruptiva perstans A disseminated eruption of telangiectases associated with erythematous and edematous macules.
(05 Mar 2000)
telangiectasia verrucosa A discrete, pink to red telangiectasia having a tendency to undergo secondary epithelial changes, including acanthosis and hyperkeratosis. An underlying vascular abnormality is present in many cases. The term angiokeratoma is applied to a number of quite distinct conditions which share a common clinical presentation with asymptomatic hyperkeratotic vascular skin lesions and a histological combination of superficial dermal vascular ectasia.
(12 Dec 1998)
benign essential tremor A benign tremor inherited as a dominant character; it may be a rapid oscillation resembling that seen in thyrotoxicosis, a coarse tremor during rest and inhibited by a voluntary effort, or one which appears only upon movement.
Synonym: benign essential tremor, familial tremor.
(05 Mar 2000)
drugs, essential Drugs considered essential to meet the health needs of a population as well as to control drug costs. (world health organization action programme on essential drugs, 1994, p3)
(12 Dec 1998)
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