| ¿µ¹® | Down syndrome | ÇÑ±Û | ´Ù¿îÁõÈıº |
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| ¼³¸í | »ç¶÷ÀÇ 46°³ ¿°»öü Áß Á¦ 21¹ø ¿°»öüÀÇ ¼ö°¡ 1°³ ´õ ¸¹¾ÆÁö¹Ç·Î½á ³ªÅ¸³ª´Â º´ÀÌ´Ù. ȯÀÚÀÇ »ý±è»õ°¡ ¸¶Ä¡ ¸ù°í »ç¶÷°ú ´à¾Ò´Ù ÇÏ¿© ÀÏ¸í ¸ù°íÁõ(mongolism)À̶ó°í ÇÏ¿´À¸³ª À߸øµÈ À̸§ÀÌ´Ù. ÀÌ º´Àº ¹Ýµå½Ã 21¹ø ¿°»öü°¡ 3°³°¡ µÇ´Â °æ¿ìÀ̿ܿ¡µµ 21¹ø ¿°»öüÀÇ ÀϺκÐÀÌ ´Ù¸¥ ¿°»öüÀÇ ÀϺκаú ±³È¯ÀÌ µÇ´Â translocationÇü µîÀÇ ´Ù¸¥ ¿°»öüÀ̻󿡼µµ º¼ ¼ö°¡ ÀÖ´Ù. ¹ß»ý ºóµµ´Â Ãâ»ý¾Æ 700~1000¸íÁß 1¸í ²Ã·Î ³ªÅ¸³ª¸ç, ¿°»öü ÀÌ»óº´ Áß¿¡ °¡Àå ¸¹Àº °ÍÀ¸·Î ¾Ë·ÁÁ® ÀÖ´Ù. ÀÌ º´ÀÇ ¹ß»ýºóµµ´Â »ê¸ðÀÇ Ãâ»ê¿¬·É°ú ¹ÐÁ¢ÇÑ °ü°è°¡ ÀÖ¾î, 35¼¼ ÀÌÈİ¡ µÇ¸é ±âÇÏ ±Þ¼öÀûÀ¸·Î ÀÌ ÁúȯÀÚÀÇ Ãâ»ê¼ö°¡ Áõ°¡ÇÑ´Ù. ÀϹÝÀûÀ¸·Î ÀÌ Áúȯ¿¡ ÀÖ¾î¼ ¾à 3ºÐÀÇ 1Àº ¸ðÄ£ÀÇ Ãâ»ê¿¬·É¿¡ ÀÇÁ¸ÇÏÁö ¾Ê°í, ³ª¸ÓÁö ¾à 3ºÐÀÇ 2´Â ¸ðÄ£ÀÇ ¿¬·É°ú Á÷Á¢ °ü·ÃÀÌ ÀÖ´Â °ÍÀ¸·Î º¸°í ÀÖ´Ù. Áø´ÜÀº Ư¡ÀûÀÎ »ý±è»õ, Áï ¸ù°í »ç¶÷°°ÀÌ ´«²¿¸®°¡ À§·Î Ä¡ÄÑÁ® ÀÖ°í ´«°ÅÇ®ÀÌ µÎ²¨¿ì¸ç ÄàµîÀÌ ³·Àº Ư¡ÀûÀÎ ¾ó±¼ ¸ð½À, ¶ÇÇÑ ±ÙÀ°ÀÇ ±äÀåµµ°¡ ÀúÇϵǰí Á¥À» ºü´Â Èû°ú ¿ïÀ½ ¼Ò¸®°¡ ¾àÇÏ¸ç ¼Õ¹Ù´ÚÀÇ Á¿츦 °¡¸£´Â ÇÑÁÙÀÇ ¼Õ±Ý(¿ø¼þÀÌ¿Í °°Àº ÇüÅÂÀÌ´Ù) µîÀÇ Æ¯Â¡ÀûÀÎ ¼Ò°ß¿¡ ÀÇÇØ º¸Á¶Áø´ÜÀ» Çϰí ÃÖÁ¾ÀûÀ¸·Î ¿°»öü ºÐ¼®¿¡ ÀÇÇØ È®ÁøÀ» ÇÑ´Ù. ÀÌ ´Ù¿îÁõÈıºÀÇ È¯ÀÚ´Â ´ë°³ Áö´ÉÀÌ ÀúÇϵǾî ÀÖ°í, ¿©·¯ °¡Áö Á¾·ùÀÇ ¼±Ãµ¼º ½ÉÀå±âÇüÀ» ¸¹ÀÌ µ¿¹ÝÇϰí ÀÖ´Ù. |
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| ¿µ¹® | Raynaud syndrome | ÇÑ±Û | ·¹À̳ëÁõÈıº |
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| ¼³¸í | »çÁöÀÇ ´ëĪÀû û»öÁõÀ» Ư¡À¸·Î ÇÏ´Â Áõ»óÀ¸·Î¼ ¼Õ°¡¶ô-¼Õ¸ñ µîÀÇ ÇǺΰ¡ Áö¼ÓÀûÀ¸·Î û»ö°ú Àû»öÀ¸·Î º¯Çϰí, ¼Õ°¡¶ôÀÇ ´ë·® ¶¡³²°ú ³Ã°¢À» ¼ö¹ÝÇÑ´Ù. |
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| ¿µ¹® | battered child syndrome | ÇÑ±Û | ¸Å¸Â´Â ¾ÆÀÌ ÁõÈıº |
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| ¼³¸í | ¿µÀ¯¾Æ³ª ¼Ò¾Æ°¡ ºÎ¸ð µîÀÇ º¸À°ÀÚ³ª ÇüÁ¦ÀڸŷκÎÅÍ ¹Ýº¹Çؼ ½ÅüÀûÀÎ Çд븦 ¹Þ¾Æ ¹ß»ýÇÏ´Â °¢Á¾ Áõ»çÀÇ ÃÑĪÀÌ´Ù. 1962³â ÄÍÇÁ(Kempe)¿¡ ÀÇÇØ ¸í¸íµÇ¾ú´Ù. »óó¸¦ ¹ÞÀº ½Ã±â°¡ ¼·Î Â÷À̰¡ ÀÖ´Â ¿Ü»óÀÌ ¸ö Àüü ¿©·¯ °÷¿¡¼ °üÂûµÇ´Â °ÍÀÌ Æ¯Â¡ÀÌ´Ù. ÇǺÎÀÇ ¼Õ»ó°ú ¾ó·èÃâÇ÷, °æÁú¸·ÇÏ Ç÷Á¾, °ñÀý µîÀÌ ¸¹°í ±Ø´ÜÀûÀÎ °æ¿ì´Â ¿µ±¸Àû ³ú¼Õ»ó°ú Á×À½¿¡ À̸£´Â °æ¿ìµµ ÀÖ´Ù. Çд뵿±â´Â ÇÇÇØÀÚ ÀÔÀå¿¡¼´Â À°Ã¼Àû-Á¤½ÅÀû ¹ßÀ°ºÎÀü, ½ÖµÕÀÌ, ±âÇü, ¹ãÁß¿¡ ¿ì´Â °Í, ¾ß´¢Áõ, Àå³, ¹ÝÇ×Àû ŵµ µîÀÌ ÀÖÀ¸¸ç °¡ÇØÀÚ ÀÔÀå¿¡¼´Â º¸À°ÀÚÀÇ ¾ÆÀÌ¿¡ ´ëÇÑ ¾ÖÁ¤°áÇ̰ú °úÀ× ±â´ë, À°¾Æ¿¡ ´ëÇÑ ¹«Áö, ÇüÁ¦Àڸſ¡ ´ëÇÑ ½Ã»ù, Á¤½Åº´, ½Å°æÁõ, Áö´ÉÀúÇÏ, ¾ËÄÚ¿Ã Áßµ¶ µîÀÌ ÀÖ°í, ¶Ç »ýȰȯ°æÀÇ ÀÔÀå¿¡¼´Â ºó°ï, ºÎºÎ ºÒÈ, ÇÙ°¡Á·ÀÌ¸é¼ »çȸÀûÀ¸·Î °í¸³µÈ °¡Á¤ µîÀ» µé ¼ö ÀÖ´Ù. |
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| ¿µ¹® | severe acute respiratory syndrome(SARS) | ÇÑ±Û | »ç½º |
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| ¼³¸í | Áß±¹ ±¤µ¿ Áö¿ª¿¡¼ °¡Àå ¸ÕÀú ¹ß»ýÇÑ Àü¿°¼º È£Èí±â ÁúȯÀ¸·Î ¼¼°èº¸°Ç±â±¸(WHO)¿¡¼ ¡®ÁßÁõ±Þ¼ºÈ£ÈíÁõÈıº(SARS)'À¸·Î ¸í¸íÇß´Ù. ¼·¾¾ 38µµ ÀÌ»óÀÇ °í¿°ú ±âħ, È£Èí°ï¶õ, Àú»ê¼ÒÁõ, X¼±»óÀÇ Æó·ÅÁõ»ó Áß Çϳª ÀÌ»óÀÇ Áõ»óÀÌ ³ªÅ¸³ª¸ç, µÎÅë, ±ÙÀ°Åë, ½Ä¿åºÎÁø, ÇǷΰ¨, ¹ßÁø, ¼³»ç¸¦ µ¿¹ÝÇÒ ¼ö ÀÖ´Ù. Ãʱâ Áõ»óÀº °¨±â¿Í ºñ½ÁÇÏÁö¸¸ Æó·ÅÀ¸·Î ¹ßÀüÇϸé Ä¡¸íÀûÀÏ ¼ö ÀÖ´Ù. ÇöÀç ¹àÇôÁø °¨¿°°æ·Î´Â ȯÀÚ°¡ Àçä±â³ª ±âħÇÒ ¶§ ³»»Õ´Â ħ¹æ¿ïÀ̰í, À̰ÍÀÌ ´Ù¸¥ »ç¶÷ÀÇ È£Èí±â·Î µé¾î°¥ ¶§ Àü¿°µÈ´Ù. ħ¹æ¿ïÀÌ Àü´ÞµÇ´Â °Å¸®´Â º¸Åë 1m·Î º¸°í ÀÖ´Ù. °ø±â¸¦ ÅëÇØ Àü¿°ÀÌ °¡´ÉÇÏ´Ù´Â ÁÖÀåÀÌ Á¦±âµÆÁö¸¸ ¾ÆÁ÷ È®ÀεÇÁö ¾Ê¾Ò´Ù. ¿øÀαÕÀº º¯Á¾ Äڷγª¹ÙÀÌ·¯½º·Î ¹àÇôÁ³´Ù. |
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| ¿µ¹® | congenital rubella syndrome | ÇÑ±Û | ¼±ÃµÇ³ÁøÁõÈıº |
|---|---|---|---|
| ¼³¸í | ÀӽűⰣ Áß¿¡ »ê¸ð°¡ dzÁø¿¡ °É¸®¸é ÀÌ Ç³Áø ¹ÙÀÌ·¯½º´Â ŹÝÀ» ÅëÇØ¼ žƿ¡°Ô Àü´ÞµÇ¾î¼ žÆÀÇ Ç³Áø°¨¿°À» ÀÏÀ¸Å²´Ù. ÀӽŠù 3°³¿ù µ¿¾È, ƯÈ÷ ÀӽŠù´Þ¿¡ žư¡ dzÁøÀÇ °¨¿°À» ¹ÞÀ¸¸é, ½Å»ý¾Æ¿¡¼ ¼±Ãµ±âÇü, Áï ´«¿¡¼ ÃÐÁ¡À» Á¤È®È÷ ¸ÂÃß¾îÁÖ´Â ·»ÁîÀÇ ¿ªÇÒÀ» ÇÏ´Â ¼öÁ¤Ã¼ÀÇ È¥Å¹(¹é³»Àå), ½ÉÀå±âÇü, ±Í¸Ó°Å¸® ¹× ½ÉÇÑ Áö´É¹Ú¾àÀ» µ¿¹ÝÇÏ´Â ¼ÒµÎÁõ µîÀÌ ¹ß»ýÇÏ´Â ¼ö°¡ ¸¹´Ù. |
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| CS | calf serum; campomelic syndrome; carcinoid syndrome; cardiogenic shock; caries-susceptible; carotid ... |
|---|---|
| PCS | palliative care service; Patient Care System; patterns of care study; pelvic congestion syndrome; ph... |
| ECG | Electro-Cardio-Graphy(-Gram); ½ÉÀüµµ = EKG 1. Conducting System Structu... |
| PPS | Personal Preference Scale; physician, patient and society [course]; polyvalent pneumococcal polysacc... |
| SBS | shaken baby syndrome; short bowel syndrome; sick building syndrome; sinobronchial syndrome; small bo... |
| early latent syphilis | Infection with Treponema pallidum, the organism of syphilis, after the primary and secondary phases have subsided, during the first year after infection, before any manifestations of tertiary syphilis have appeared. (05 Mar 2000) |
|---|---|
| early neonatal death | Death of a liveborn infant occurring less than 7 completed days (168 hours) from the time of birth, late neonatal death, death of a liveborn infant occurring after 7 completed days of age but before 28 completed days. (05 Mar 2000) |
| early-phase response | Prompt onset of symptoms following an antigenic stimulus. (05 Mar 2000) |
| early posttraumatic epilepsy | Seizures beginning within one week after severe head injury. (05 Mar 2000) |
| early reaction | Local or generalised response that begins within a few minutes to about an hour after exposure to an antigen to which the individual has been sensitised. See: skin test, wheal-and-erythema reaction. Synonym: early reaction. (05 Mar 2000) |
| early receptor potential | A voltage arising across the eye from a charge displacement within photoreceptor pigment, in response to an intense flash of light. (05 Mar 2000) |
| early region | <molecular biology> Part of a viral genome in which early genes genes that are transcribed and expressed early during infection of a cell are clustered. (18 Nov 1997) |
| early seizure | A seizure occurring within one week after craniocerebral trauma. (05 Mar 2000) |
| early seral species | <plant biology> Shrubs, such as ceanothus, and hardwoods, usually in tree form, such as red alder, bitter cherry and big leaf maple. These species start growing in natural succession soon after a disturbance (fire or logging). (05 Dec 1998) |
| early stage breast cancer | <oncology> Cancer is confined to the breast and has not spread to other sites in the body. (16 Dec 1997) |
| early syphilis | Primary, secondary, or early latent syphilis, before any tertiary manifestations have appeared. (05 Mar 2000) |
| Aarskog-Scott syndrome | A syndrome of ocular hypertelorism, anteverted nostrils, broad upper lip, saddle-bag scrotum, and laxity of ligaments resulting in genu recurvatum, flat feet, and hyperextensible fingers; X-linked and autosomal dominant forms. Synonym: Aarskog-Scott syndrome. (05 Mar 2000) |
| Aarskog syndrome | <syndrome> Grier et al. (1983) reported father and 2 sons with typical Aarskog syndrome, including short stature, hypertelorism, and shawl scrotum. They tabulated the findings in 82 previous cases. X-linked recessive inheritance has been repeatedly suggested. The family reported by Welch (1974) had affected males in 3 consecutive generations. Thus, there is either genetic heterogeneity or this is an autosomal dominant with strong sex-influence and possibly ascertainment bias resulting from use of the shawl scrotum as a main criterion. Stretchable skin was present in the cases of Grier et al. (1983). Teebi et al. (1993) reported the case of an affected mother and 4 sons (including a pair of monozygotic twins) by 2 different husbands. They suggested that the manifestations were as severe in the mother as in the sons and that this suggested autosomal dominant inheritance. Actually, the mother seemed less severely affected, compatible with X-linked inheritance. Clinical signs: Mild to moderate short stature,normocephaly, Widow's peak hair, maxillary hypoplasia, broad nasal bridge, anteverted nostrils, long philtrum, broad upper lip, curved linear dimple below the lower lip, hypertelorism, ptosis, down-slanted palpebral fissures, ophthalmoplegia, strabismus, hyperopic astigmatism, large cornea, floppy ears, lop-ears,cleft lip/palate, shawl scrotum, saddle-bag scrotum, cryptorchidism, brachydactyly, digital contractures, clinodactyly, mild syndactyly, transverse palmar crease, lymphoedema of the feet, ligamentous laxity, osteochondritis dissecans, proximal finger joint hyperextensibility, flexed distal finger joints, genu recurvatum, flat feet, stretchable skin, cervical spine hypermobility, odontoid anomaly, macrocytic anaemia, hemochromatosis, hepatomegaly, portal cirrhosis, imperforate anus, rectoperineal fistula, interstitial pulmonary disease, sternal deformity. Inheritance: Sex-influenced autosomal dominant form, also X-linked form. (05 Aug 1998) |
| abdominal muscle deficiency syndrome | <syndrome> Congenital absence (partial or complete) of abdominal muscles, in which the outline of the intestines is visible through the protruding abdominal wall; in males, genitourinary anomalies (urinary tract dilation and cryptorchidism) are also found; genetics unclear. (05 Mar 2000) |
| abstinence syndrome | <syndrome> A constellation of physiologic changes undergone by persons or animals who have become physically dependent on a drug or chemical due to prolonged use at elevated doses, but who are abruptly deprived of that substance. The abstinence syndrome varies with the drug to which dependence has developed. Generally the effects observed are in an opposite direction from those produced by the drug; e.g., the withdrawal syndrome from central nervous system depressants such as barbiturates and benzodiazepines consists of insomnia, restlessness, tremulousness, hallucinations, and, in the extreme, tonic-clonic convulsions which may prove fatal. The onset time and severity of the abstinence syndrome depend upon how rapidly the drug disappears from the body. (05 Mar 2000) |
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