¼±Åà - È­»ìǥŰ/¿£ÅÍŰ ´Ý±â - ESC

 
"gene defect"¿¡ ´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 : 2 ÆäÀÌÁö: 1
¿µ¹® gene ÇÑ±Û À¯ÀüÀÚ
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  À¯ÀüÀڴ ±æ°Ô ¶ì¸¦ Çü¼ºÇÑ DNAºÐÀÚÀÇ ÀϺκÐÀ¸·Î ÇÑ °¡Áö ¹°ÁúÀ» ¸¸µå´Âµ¥ ÇÊ¿äÇÑ ¸ðµç Á¤º¸¸¦ °®Ãá ±â´ÉÀûÀΠ´ÜÀ§ÀÌ´Ù. ¿¹¸¦ µé¾î Àν¶¸°À̶ó´Â ¹°ÁúÀÇ À¯ÀüÀÚ¶ó°í Çϸ頻ç¶÷ÀÇ ¼¼Æ÷³»¿¡ Àִ ±ä DNA ºÐÀÚ Áß¿¡¼­ Àν¶¸°À̶ó´Â ¹°ÁúÀ» ¸¸µå´Âµ¥ ÇÊ¿äÇÑ ¸ðµç Á¤º¸¸¦ °¡Áö°í Àִ ÇÑ ºÎºÐÀ» °¡¸®Å°´Â ¸»ÀÌ´Ù. °íÀüÀûÀΠ»ý¹°Çп¡¼­´Â À¯ÀüÀÚ°¡ Ç¥ÇöÇüÀ» °áÁ¤Çϰųª ÁöÁ¤Çϴ ¿°»öüÀÇ ÀϺκÐÀ̶ó°í Á¤ÀǵǾúÁö¸¸, ¿À´Ã³¯¿¡´Â À¯ÀüÀÚ¿¡ ´ëÇØ¼­ ºÐÀÚÀû Á¤Àǰ¡ Á¦¾ÈµÇ°í ÀÖÀ¸¸ç ±× Á¤ÀǴ ÇϳªÀÇ À¯ÀüÀڴ ÇϳªÀÇ È¿¼Ò¸¦ °áÁ¤ ¶Ç´Â ¾ÏȣȭÇϴ À¯Àü¹°ÁúÀÇ ÀϺκÐÀ̶ó´Â °³³äÀ¸·Î À̰ÍÀÌ À̸¥¹Ù 1°³ÀÇ À¯ÀüÀÚ 1°³ È¿¼Ò°¡¼³(one gene-one enzyme hypothesis)ÀÌ´Ù. Áï 1°³ÀÇ À¯ÀüÀڴ 1°³ÀÇ È¿¼Ò¸¦ Á¦ÀÛÇϴµ¥ ÇÊ¿äÇÑ À¯ÀüÁ¤º¸¸¦ °¡Áø´Ù´Â °ÍÀÌ´Ù. ÇöÀç ÀÌ °¡¼³ÀÌ ¹Þ¾Æµé¿©Áö°í ÀÖ´Ù.
¿µ¹® gene therapy ÇÑ±Û À¯ÀüÀÚ¿ä¹ý
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  À¯Àüº´À» Ä¡·áÇÒ ¸ñÀûÀ¸·Î, Á¤»óÀûÀ¸·Î ±â´ÉÇϴ ´ÜÀÏÀ¯ÀüÀڠȤÀº º¹¼öÀ¯ÀüÀÚ¸¦ ¾î¶² ±â¿ø¿¡¼­ ¾ò¾î³»¾î »ý¼¼Æ÷¿¡ µµÀÔÇϴ °Í. À¯Àü¹°ÁúÀº À¯ÀüÀÚ»ðÀÔ Á¶ÀÛ¿¡ ÀÇÇØ ¼ö¿ë¼¼Æ÷¿¡·Î µµÀԵȴÙ. Áï, À¯ÀüÀÚ¸¦ ³¢¿ö ³ÖÀº »õ·Î¿î ¼¼Æ÷¸¦ »ç¿ëÇϴ ġ·á·Î¼­ 1980³â ¹Ì±¹ÀÇ ÇÐÀÚ°¡ ÁöÁßÇØºóÇ÷ȯÀÚ¿¡°Ô °­ÇàÇÏ¿© ºñÆÇÀ» ¹Þ¾ÒÁö¸¸, ¹Ì±¹ ±¹¸³º¸°Ç¿¬±¸¼Ò´Â 1990³â 9¿ù ¾Æµ¥³ë½Å µ¥¾Æ¹Ì³ª¾ÆÁ¦(adenosine deaminase, ADA) °áÇÌÁõ È¯ÀÚÀÇ ¸²ÇÁ±¸¿¡ ADA À¯ÀüÀÚ¸¦ ³¢¿ö ³Ö´Â Ä¡·á¸¦ ½ÃÀÛÇÑ ÀÌ·¡ ÇöÀç´Â ¾ÏÀ» Æ÷ÇÔÇÑ ¸¹Àº Áúº´µéÀ» Ä¡·áÇϴ ¸ñÀûÀ¸·Î ¾²ÀδÙ.
´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö ¸ÂÃã °Ë»ö °á°ú : 1 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • gene defect
    À¯ÀüÀÚ°á¼Õ
´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • associated defect
    ¿¬°üÀå¾Ö
  • atrial septal defect
    ½É¹æ»çÀ̸·°á¼Õ, ½É¹æÁ߰ݰá¼Õ
  • atrioventricular canal defect
    ¹æ½Ç°ü°á¼Õ(Áõ)
  • atrioventricular septal defect
    ¹æ½Ç»çÀ̸·°á¼Õ(Áõ), ¹æ½ÇÁ߰ݰá¼Õ(Áõ)
  • auditory defect
    û°¢°á¼Õ
  • abdominal wall defect
    ¹èº®°á¼Õ, º¹º®°á¼Õ
  • afferent pupillary defect
    µé½Å°æµ¿°ø°á¼Õ, ±¸½É½Å°æµ¿°ø°á¼Õ
  • altitudinal visual field defect
    ¼öÆò½Ã¾ß°á¼Õ
  • color vision defect
    »ö°¢°áÇÔ
  • composition defect
    ±¸¼º°áÇÔ
  • conduction defect
    ÀüµµÀå¾Ö
  • congenital defect
    ¼±Ãµ°áÇÔ, ¼±Ãµ°á¼Õ(Áõ)
  • congruous field defect
    ÀÏÄ¡½Ã¾ß°á¼Õ
  • conjunction defect
    °áÇÕ°áÇÔ
  • cortical sensory defect
    °ÑÁú°¨°¢°á¼Õ, ÇÇÁú°¨°¢°á¼Õ
´ëÇÑÀÇÇù Çʼö ÀÇÇпë¾îÁý »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • defect
    °áÇÔ, °á¼Õ(Áõ)
  • atrioventricular septal defect
    ¹æ½Ç»çÀ̸·°á¼Õ(Áõ), ¹æ½ÇÁ߰ݰá¼Õ(Áõ)
  • luteal phase defect
    Ȳü±â°á¼Õ
  • neural tube defect
    ½Å°æ°ü°áÇÔ, ½Å°æ°ü°á¼Õ(Áõ)
  • perfusion defect
    °ü·ù°á¼Õ
  • synthesis defect
    ÇÕ¼º°áÇÔ
  • ventricular septal defect
    ½É½Ç»çÀ̸·°á¼Õ, ½É½ÇÁ߰ݰá¼Õ
  • visual field defect
    ½Ã¾ß°á¼Õ
  • gene
    À¯ÀüÀÚ
  • allelic gene
    ´ë¸³À¯ÀüÀÚ
  • regulator gene
    Á¶ÀýÀ¯ÀüÀÚ
  • structural gene
    ±¸Á¶À¯ÀüÀÚ
  • suicide gene
    ÀÚ»ìÀ¯ÀüÀÚ
  • supressor gene
    ¾ïÁ¦À¯ÀüÀÚ
  • tumor suppressor gene
    Á¾¾ç¾ïÁ¦À¯ÀüÀÚ
¿¾ ´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö ¸ÂÃã °Ë»ö °á°ú : 1 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • gene defect
    À¯ÀüÀÚ°á¼Õ
¿¾ ´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • additive gene
    »ó°¡À¯ÀüÀÚ
  • allelic gene
    ´ë¸³À¯ÀüÀÚ
  • autosomal gene
    º¸Åë¿°»öüÀ¯ÀüÀÚ
  • gene amplification
    À¯ÀüÀÚÁõÆø
  • gene analysis
    À¯ÀüÀںм®
  • complementary gene
    º¸Á·À¯ÀüÀÚ, »óÈ£º¸ÃæÀ¯ÀüÀÚ
  • control gene
    Á¦¾îÀ¯ÀüÀÚ
  • cooperating gene
    Çùµ¿À¯ÀüÀÚ
  • gene cloning
    À¯ÀüÀÚŬ·Î´×
  • gene conversion
    À¯ÀüÀÚº¯È¯
  • determinant gene
    °áÁ¤À¯ÀüÀÚ
  • dominant gene
    ¿ì¼ºÀ¯ÀüÀÚ
  • duplicate gene
    º¹»çÀ¯ÀüÀÚ
  • gene deletion
    À¯ÀüÀÚ°á¼Õ
  • gene expression
    À¯ÀüÀÚ¹ßÇö
¿¾ ´ëÇÑÀÇÇù 2 ÀÇÇпë¾î »çÀü °Ë»ö ¸ÂÃã °Ë»ö °á°ú : 1 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • gene defect
    À¯ÀüÀÚ°á¼Õ<--°á¿©>
¿¾ ´ëÇÑÀÇÇù 2 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • ECD=£¾endocardial cushion defect
    ½É³»¸·»ó°á¼Õ(Áõ).
  • Interventricular septal defect
    ½É½ÇÁ߰ݰá¼ÕÁõ(ãýãøñḛ́ÌÀáßñø)
  • VSD= ventricular septal defect
    ½É½ÇÁ߰ݰá¼Õ.
  • acquired color vision defect
    ÈÄõ»ö°¢ÀÌ»ó
  • afferent pupillary defect
    ±¸½É¼ºµ¿°ø¿îµ¿Àå¾Ö
  • altitudinal visual field defect
    ¼öÆò½Ã¾ß°á¼Õ
  • amniotic defect
    ¾ç¸·°áÇÔ
  • aortic septal defect
    ´ëµ¿¸ÆÁ߰ݰá¼Õ(ÓÞÔÑØæñḛ́ÌÀáß).
  • aortic septal defect
    ´ëµ¿¸ÆÁ߰ݰá¼Õ(ÓÞÔÑØæñḛ́ÌÀáß).
  • aorticopulmonary septal defect
    ´ëµ¿¸ÆÆóµ¿¸ÆÁ߰ݰá¼Õ(¡­ñḛ́ÌÀáß).
  • aorticopulmonary septal defect
    ´ëµ¿¸ÆÆóµ¿¸ÆÁ߰ݰá¼Õ(¡­ñḛ́ÌÀáß).
  • aortopulmonary septal defect
    ´ëµ¿¸ÆÆóµ¿¸ÆÁ߰ݰá¼Õ.
  • aortopulmonary septal defect
    ´ëµ¿¸ÆÆóµ¿¸ÆÁ߰ݰá¼Õ.
  • functional morphologic defect
    ±â´ÉÇüŰáÇÔ
  • fusion defect
    À¶ÇÕ°áÇÔ
¿¾ ´ëÇÑÀÇÇù 3 ÀÇÇпë¾î »çÀü °Ë»ö ¸ÂÃã °Ë»ö °á°ú : 1 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • gene defect
    À¯ÀüÀÚ°á¼Õ<--°á¿©>
¿¾ ´ëÇÑÀÇÇù 3 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • additive gene
    »ó°¡À¯ÀüÀÚ(ßÓÊ¥ë¶îîí­).
  • allelic gene
    ´ë¸³À¯ÀüÀÚ
  • aniridia,pax-6 gene
    PAX-6 À¯ÀüÀÚ(¡­ë¶îîí­)
  • apc gene
    APC À¯ÀüÀÚ(¡­ë¶îîí­)
  • atk gene
    atk À¯ÀüÀÚ(¡­ë¶îîí­)
  • autosomal gene
    º¸Åë¿°»öüÀ¯ÀüÀÚ
  • bcg gene
    bcg À¯ÀüÀÚ(¡­ë¶îîí­)
  • bcl gene
    bcl À¯ÀüÀÚ
  • bcr-c-abl gene
    bcr-c-abl À¯ÀüÀÚ
  • beta-globin gene
    º£Å¸±×·ÎºóÀ¯ÀüÀÚ(¡­ë¶îîí­)
  • c4a gene
    C4A À¯ÀüÀÚ (¡­ë¶îîí­)
  • calcitonin-gene related peptide
    Ä®½ÃÅä´ÑÀ¯ÀüÀÚ°ü·ÃÆéƼµå
  • complementary gene
    º¸Á·À¯ÀüÀÚ(ÜÍðëë¶îîí­), º¸Ã¼À¯ÀüÀÚ.
  • contiguous gene syndrome
    Á¢Ã˼º À¯ÀüÀÚ ÁõÈıº(ïÈõºàõë¶îîí­ñøý¦ÏØ)
  • contiguous gene syndrome
    ÀÎÁ¢ À¯ÀüÀÚ ÁõÈıº
´ëÇÑÇØºÎÇÐȸ ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • Mutant gene
    µ¹¿¬º¯ÀÌÀ¯ÀüÀÚ
    [¿¾ ¿ë¾î] [µ¹¿¬]º¯ÀÌÀ¯ÀüÀÚ
  • Autosomal gene
    º¸Åë¿°»öüÀ¯ÀüÀÚ
    [¿¾ ¿ë¾î] »ó¿°»öüÀ¯ÀüÀÚ
  • Gonosomal gene
    ¼º¿°»öüÀ¯ÀüÀÚ
    [¿¾ ¿ë¾î] ¼º¿°»öüÀ¯ÀüÀÚ
  • Recessive autosomal gene
    ¿­¼ºº¸Åë¿°»öüÀ¯ÀüÀÚ
    [¿¾ ¿ë¾î] ¿­¼º»ó¿°»öüÀ¯ÀüÀÚ
  • Recessive gonosomal gene
    ¿­¼º¼º¿°»öüÀ¯ÀüÀÚ
    [¿¾ ¿ë¾î] ¿­¼º¼º¿°»öüÀ¯ÀüÀÚ
  • Dominant autosomal gene
    ¿ì¼ºº¸Åë¿°»öüÀ¯ÀüÀÚ
    [¿¾ ¿ë¾î] ¿ì¼º»ó¿°»öüÀ¯ÀüÀÚ
  • Dominant gonosomal gene
    ¿ì¼º¼º¿°»öüÀ¯ÀüÀÚ
    [¿¾ ¿ë¾î] ¿ì¼º¼º¿°»öüÀ¯ÀüÀÚ
  • Lethal gene
    Ä¡»çÀ¯ÀüÀÚ
    [¿¾ ¿ë¾î] Ä¡»çÀ¯ÀüÀÚ
  • Defect of thoracic wall
    °¡½¿º®°áÇÔ
    [¿¾ ¿ë¾î] È亮°áÇÔ
  • Defect
    °áÇÔ
    [¿¾ ¿ë¾î] °áÇÔ
  • Canalisation defect
    °üÇü¼º°áÇÔ
    [¿¾ ¿ë¾î] °üÇü¼º°áÇÔ
  • Defect of ear
    ±Í°áÇÔ
    [¿¾ ¿ë¾î] À̰áÇÔ
  • Defect of muscular part
    ±ÙÀ°ºÎºÐ°áÇÔ
    [¿¾ ¿ë¾î] ±ÙºÎ°áÇÔ
  • Functional morphologic defect
    ±â´ÉÇüŰáÇÔ
    [¿¾ ¿ë¾î] ±â´ÉÀûÇüÅÂÇÐÀû°áÇÔ
  • Defect of male urethra
    ³²¼º¿äµµ°áÇÔ
    [¿¾ ¿ë¾î] ³²¼º¿äµµ°áÇÔ
´ëÇÑ»ýÈ­ÇкÐÀÚ»ý¹°ÇÐȸ ¿ë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • abl gene
    abl À¯ÀüÀÚ(ë¶îîí­)
  • cancer gene
    ¾ÏÀ¯ÀüÀÚ(äßë¶îîí­)
  • constitutive gene
    ±¸¼ºÀ¯ÀüÀÚ(ϰà÷ë¶îîí­)
  • controlling gene
    Á¶Àý À¯ÀüÀÚ(ðàï½ë¶îîí­)
  • c-src gene
    c-src À¯ÀüÀÚ(ë¶îîí­)
  • cytoplasmic gene
    ¼¼Æ÷Áú À¯ÀüÀÚ(á¬øàòõë¶îîí­)
  • D gene
    D À¯ÀüÀÚ(ë¶îîí­)
  • dispensable gene
    ºñÇʼö À¯ÀüÀÚ(Þªù±âÎë¶îîí­) (ÔÒ) nonessential gene
  • diversity gene
    ´Ù¾ç¼º À¯ÀüÀÚ(ÒýåÆàõë¶îîí­) = D gene
  • dominant gene
    ¿ì¼º À¯ÀüÀÚ(éÐàõë¶îîí­)
  • duplicate gene
    º¹»ç À¯ÀüÀÚ(ÜÜÞÐë¶îîí­)
  • early gene
    Á¶±â À¯ÀüÀÚ (ðÄÑ¢ë¶îîí­)
  • epistatic gene
    ¿ìÀ§ À¯ÀüÀÚ (éÐêÈë¶îîí­)
  • essential gene
    Çʼö À¯ÀüÀÚ (ù±âÎë¶îîí­)
  • fused gene
    À¶ÇÕ À¯ÀüÀÚ(ë×ùêë¶îîí­)
KI ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 12 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • gene
    À¯ÀüÀÎÀÚ
  • aortic septal defect
    ´ëµ¿¸ÆÁ߰ݰá¼Õ
  • atrial septal defect
    ½É¹æÁ߰ݰá¼ÕÁõ
  • atrioventricular septal defect
    ¹æ½ÇÁ߰ݰá¼ÕÁõ
  • defect
    °á¼Õ, °á¿©, ±âÇü
  • filling defect
    Ãæ¸¸°á¼Õ
  • interatrial septal defect
    ½É¹æÁ߰ݰá¼ÕÁõ
  • interventricular septal defect
    ½É½ÇÁ߰ݰá¼ÕÁõ
  • punch out defect
    ±¸¸Û°á¼Õ
  • septal defect
    Á߰ݰá¼Õ
  • ventricular septal defect
    ½É½ÇÁ߰ݰá¼Õ
  • visual field defect
    ½Ã¾ß°á¼Õ
KMLE ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 1
ASD aldosterone secretion defect; Alzheimer senile dementia; antisiphon device; arthritis syphilitica de...
IASD interatrial septal defect; inter-auricular septal defect
SD Sandhoff disease; senile dementia; septal defect; serologically defined; serologically detectable; s...
CGRP Calcitonin Gene Related Peptide(Protein)
CGRPs Calcitonin Gene-Related Products
KMLE ÀÚµ¿ÃßÃâ ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 1
ASD Atrial septal defect
CHD Congenital heart defect
CSD critical size defect
LPD Luteal phase defect
MD Mean Defect
°æºÏ´ë Ä¡°ú´ëÇÐ ±¸°­³»°ú ±³½Ç »çÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
    ¼³¸í
  • allelic gene
    ´ë¸³ À¯ÀüÀÚ
  • C-jun gene
    ¾¾-ÁØ À¯ÀüÀÚ
  • cancer suppressor gene
    ¾Ï ¾ïÁ¦ À¯ÀüÀÚ
  • contiguous gene syndrome
    Á¢Ã˼º À¯ÀüÀÚ ÁõÈıº
  • control gene
    Á¦¾î À¯ÀüÀÚ
  • dominant gene
    ¿ì¼º À¯ÀüÀÚ
  • duplicate gene
    Áߺ¹ À¯Àü ÀÎÀÚ
  • exaggeration gene
    °­Á¶ À¯ÀüÀÚ
  • fcc gene
    FCC À¯ÀüÀÚ
  • histocompatibility gene
    Á¶Á÷ ÀûÇÕ À¯ÀüÀÚ, Á¶Á÷ ÀûÇÕ¼º À¯ÀüÀÚ
    ÀÌ½ÄµÈ Á¶Á÷À» ÀÚ±â Á¶Á÷ ¶Ç´Â ¿ÜºÎ Á¶Á÷À¸·Î ÀνÄÇÏ´Â À¯ÀüÀÚ.
  • Is gene
    Is À¯ÀüÀÚ
  • marker gene
    Ç¥Áö À¯ÀüÀÚ
  • multiple drug resistance gene
    º¹ÇÕ ¾àÁ¦ ³»¼º À¯ÀüÀÚ
  • mutable gene
    À̺¯ À¯ÀüÀÚ
  • mutator gene
    º¯ÀÌ À¯¹ß À¯ÀüÀÚ
CancerWEB ¿µ¿µ ÀÇÇлçÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
acquired platelet function defect <haematology> Platelet function can be affected by a number of different disease processes including polycythaemia vera, leukaemia, myelofibrosis, renal failure, multiple myeloma and some medications (for example penicillins, salicylates, phenothiazines).
Disturbed blood clotting can be manifested by: easy bruising, bleeding gums, nosebleeds, abnormal vaginal bleeding, rectal bleeding, skin rash, vomiting blood, coughing up blood or blood in the urine. A measure of bleeding time and coagulation profile will be part of the evaluation.
(29 Dec 1997)
aortic septal defect A small congenital opening between the aorta and pulmonary artery about 1 cm above the semilunar valves, e.g., aorticopulmonary window.
Synonym: aorticopulmonary window.
(05 Mar 2000)
aortopulmonary septal defect A congenital anomaly in which there is abnormal communication between the ascending aorta and pulmonary artery just above the semilunar valves.
(12 Dec 1998)
atrial septal defect <cardiology> An inherited condition where there is nonclosure of the foramen ovale at birth, resulting in congenital heart disease. Usually asymptomatic until the third or fourth decades of life.
Symptoms include exertional shortness of breath, fatigue and palpitations.
Acronym: ASD
(12 Jan 1998)
atrial ventricular canal defect A defect caused by deficient or absent septal tissue immediately above and below the normal level of the atrioventricular valves, including the region normally occupied by the A-V septum in hearts with two ventricles. The A-V valves are abnormal to a varying degree.
(05 Mar 2000)
birth defect Defect present at birth; sometimes referred to as congenital defect.
(05 Mar 2000)
ventricular septal defect <cardiology, embryology> A congenital heart defect where an abnormal opening exists in the ventricular septum. Blood flows from the higher pressure left ventricle (through the defect) into the right ventricle.
(12 Jan 1998)
Gerbode defect <cardiology, embryology> A defect in the interventricular portion of the membranous septum, associated with a communication between the right ventricle and the right atrium through an abnormality in the tricuspid valve.
(05 Mar 2000)
mass defect <chemistry, radiobiology> Of a nucleus, the difference between the sum of the masses of the constituent nucleons and the mass of the nucleus.
(16 Dec 1997)
partial endocardial cushion defect <radiology> Incomplete endocardial cushion defect components: ostium primum atrial septal defect, cleft in anterior mitral valve findings: right AV valve is usually normal, with or without mitral insufficiency, communication between LA_RA or LV-RA, occasionally LV-RV Cf: complete endocardial cushion defect
(12 Dec 1998)
relative afferent pupillary defect An asymmetry of the pupillomotor input between the two eyes; tested by alternating the light from one eye to the other and comparing the direct light reactions.
(05 Mar 2000)
metaphysial fibrous cortical defect A small (less than 2 to 3 cm in diameter) fibrous cortical d.
(05 Mar 2000)
complete endocardial cushion defect <radiology> Arteriovenous canal components: low atrial septal defect (ostium primum), high VSD, cleft anterior leaflet of mitral valve, cleft septal leaflet of tricuspid valve, one AV valve common to RV and LV with 5-6 leaflets findings: 4-chamber enlargement (R greater than L), mitral insufficiency, associated with congestive heart failure and Eisenmenger syndrome, gooseneck deformity on angiogram (elongation and narrowing of the LV outflow tract during diastole) see also: endocardial cushion defect, partial endocardial cushion defect
(12 Dec 1998)
congenital defect A birth defect.
(12 Dec 1998)
congenital ectodermal defect Incomplete development of the epidermis and skin appendages; the skin is smooth and hairless, the facies abnormal, and the teeth and nails may be affected; sweating may be deficient.
Synonym: congenital ectodermal dysplasia.
(05 Mar 2000)
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