| ¿µ¹® | testicular feminization syndrome | ÇÑ±Û | °íȯ¿©¼ºÈÁõÈıº |
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| ¼³¸í | ÀÌÂ÷¼ºÀåÀ» Æ÷ÇÔÇÏ¿©, ¿Ü¼º±âÀÇ ¹ßÀ°Àº ¿©¼ºÀÌÁö¸¸ °íȯÀÌ Á¸ÀçÇϰí, Àڱðú ÀڱðüÀÌ °áÇ̵Ǿî ÀÖ´Â ³²¼º °ÅÁþ³²³àÇѸöÁõÀÇ ±Ø´ÜÀû ÇüÅÂÀÌ´Ù. À̰ÍÀº Å×½ºÅ佺Å×·ÐÀÇ ÀÛ¿ë¿¡ ´ëÇÑ ¸»´Ü±â°üÀÇ ÀúÇ׿¡ ±âÀÎÇÑ´Ù. |
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| ¿µ¹® | irritable bowel syndrome | ÇÑ±Û | °ú¹Î¼º´ëÀåÁõÈıº |
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| ¼³¸í | ¹èº¯Àå¾Ö, º¹Åë, º¹ºÎÆØ¸¸ µîÀÇ Áõ»óÀÌ ÀÖÀ¸³ª ±âÁúÀûÀÎ º´º¯ÀÌ ¾øÀ½ÀÌ È®ÀÎµÈ ¿¹¸¦ ÃѸÁ¶óÇÑ ÀÓ»ó ÁõÈıºÀÌ´Ù. °¡Àå ÈçÇÑ ¼Òȱâ ÁúȯÀ̸ç(Àü¼Òȱâ ȯÀÚÀÇ 70~80%) °¡Àå ÈçÇÑ Áúº´(Àüü Àα¸ÀÇ ¾à 20%)ÀÌ´Ù. ¿©¼ºÀÌ ³²¼º¿¡ ºñÇØ 2¹è Á¤µµ ¸¹ÀÌ ¹ß»ýÇϸç 30´ë ¹× 40´ë¿¡¼ È£¹ßÇÏ°í ¼±Áø °ø¾÷±¹¿¡¼ ¸¹ÀÌ ¹ß»ýÇÑ´Ù. Áø´ÜÀ» À§Çؼ´Â º´·Â ûÃë°¡ °¡Àå Áß¿äÇÏ°í °¢Á¾ °Ë»ç·Î¼ ±âÁúº´À» Á¦¿ÜÇØ¾ß ÇÑ´Ù. Ä¡·á·Î´Â ¾ÈÁ¤¿ä¹ý(Á¤½Å°úÀû ¸é´ã ¹× ½É¸®¿ä¹ý, ½Å°æ¾ÈÁ¤Á¦), ½Ä»ç¿ä¹ý(°í¼¶À¯Áú À½½Ä ¼·Ãë, Àڱؼº À½½Ä ÇÇÇϱâ), ¾à¹° ¿ä¹ý(âÀÚ°æ·Ã ÁøÁ¤Á¦, º¯ºñ ¿ÏÈÁ¦, Áö»çÁ¦) µîÀ» »ç¿ëÇÑ´Ù. |
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| ¿µ¹® | withdrawal syndrome | ÇÑ±Û | ±Ý´ÜÁõÈı٠|
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| ¼³¸í | ¾ËÄÚ¿Ã, ¸¶¾à, ¹ÙºñÅõ¸£»ê°è ÃÖ¸é¾à µîÀÇ ¾à¹°À» Àå±â°£ º¹¿ëÇÏ¿© ¾à¹°ÀÌ ¾øÀÌ´Â °ßµô ¼ö ¾ø°ÔµÈ µÚ, ±× ¾à¹°À» ÁßÁöÇÑ °æ¿ì¿¡ ³ªÅ¸³ª´Â, °íÅëÀÌ ¼ö¹ÝµÇ´Â ½ÅüÀû Áõ»óÀ» ¸»ÇÑ´Ù. ¿¬¼Ó º¹¿ëÀÇ ±â°£¿¡ µû¶ó Áõ»óÀÌ ¹«°Å¿öÁø´Ù. Åë»óÀûÀ¸·Î ±¸Åä, ¼³»ç, Ç÷¾Ð»ó½Â, ºü¸¥¸Æ, ¶¡³², È¥¼ö µîÀÇ Áõ»óÀÌ ³ªÅ¸³´Ù. |
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| ¿µ¹® | organic brain syndrome | ÇÑ±Û | ±âÁúÀû ³úÁõÈıº |
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| ¼³¸í | ³úÀÇ ±âÁúÀûÀÎ(organic-:ÀÌ ¸»Àº ±â´ÉÀûÀÎ(functional)¿¡ ¹ÝÇÏ´Â ¸»·Î½á) ¸ðµç °Ë»ç¸¦ ½ÃÇàÇÏ¸é ¾î¶² ÀÌ»óÀ» ¹ß°ßÇÒ ¼ö ÀÖ´Ù´Â ¶æÀÌ´Ù. ¹Ù²Ù¾î ¸»Çϸé, ±â´ÉÀûÀÎ ÀÌ»ó¿¡ ÀÇÇÑ ³úÁõÈıºÀº ¾î¶°ÇÑ °Ë»ç·Îµµ ÀÌ»óÀ» ¹ß°ßÇÒ ¼ö ¾øÀ¸³ª ºÐ¸íÈ÷ ȯÀÚ¿¡°Ô ÀÌ»óÁõ»óÀÌ ³ªÅ¸³µÀ» ¶§ À̸¦ ¹¾î¼ ¸»ÇÑ´Ù. ÀÌ»ó¿¡ ÀÇÇØ ½Å°æÇÐÀûÀÎ ÀÌ»óÀ» ³ªÅ¸³»´Â ÀÏ·ÃÀÇ º´ÀûÇö»óÀ» ¸ðµÎ ÅëÆ²¾î ¸»ÇÑ´Ù. ÀÌ º´Àº ÈçÈ÷ º¸¾Æ ¸¶Ä¡ Á¤½Åº´È¯ÀÚó·³ ¸»À» Ⱦ¼³¼ö¼³Çϰí, ¾Ë¾ÆµéÀ» ¼ö ¾ø´Â ¸»À» Çϸç, ¶§·Î´Â ´Ù¸¥ »ç¶÷¿¡°Ô °ø°ÝÀûÀÎ ¼ºÇâÀ» ³ªÅ¸³»±âµµ ÇÑ´Ù. ±×¸®°í ´Ù¸¥ »ç¶÷°ú µµÀúÈ÷ ±³·ù¸¦ ÇÒ ¼ö ¾ø´Â Á¤¼¸¦ ³ªÅ¸³»±âµµ ÇÑ´Ù. ±×·¯³ª, ÀÌ º´ÀÌ ´Ù¸¥ Á¤½Åº´°ú ±¸º°µÇ´Â Ư¡ÀûÀÎ Áõ»óÀº ¸ÕÀú, ÀǽÄÀÇ È¥Å¹ÀÌ µ¿¹ÝµÇ´Â °æ¿ì°¡ ¸¹°í, ¶ÇÇÑ ±× Áõ»óÀÇ Á¤µµ°¡ º¯ÇÑ´Ù´Â °ÍÀÌ´Ù. Áï, ¾ÆÄ§¿¡´Â Á¤»óÀûÀÎ ÇൿÀ» ÇÏ´Ù°¡ ¿ÀÈİ¡ µÇ¸é, ÀǽÄÀÌ Èå·ÁÁö¸é¼ ¸»À» Ⱦ¼³¼ö¼³ÇÑ´Ù¸é, ÀÌ´Â ±âÁú¼º³úÁõÈıºÀÏ °¡´É¼ºÀÌ ³ô´Ù. |
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| ¿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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| MS | Maffuci syndrome; maladjustment score; mandibular series; Marfan syndrome; Marie-Strumpell [syndrome... |
|---|---|
| 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... |
| 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... |
| NST | Nonsense Syllable Test |
|---|---|
| NMD | Nonsense-mediated mRNA decay |
| "syndrome X" | syndrome |
| MDS | 7--myelodysplastic syndrome |
| ACS | Abdominal compartment syndrome |
| nonsense syndrome | <syndrome> A psychotic-like condition, without the symptoms and signs of a traditional psychosis, occurring typically in prisoners who feign insanity; e.g., such a person, when asked to multiply 6 by 4, will give 23 as the answer, or he will call a key a lock. See: malingering, factitious disorder. Synonym: nonsense syndrome, syndrome of approximate relevant answers, syndrome of deviously relevant answers. (05 Mar 2000) |
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| codon, nonsense | A codon that is not assigned to an amino acid or to any stop signal. It was originally thought that nonsense codons were synonymous with terminator codons (codon, terminator) in that they signaled termination of a protein chain. Recent studies have found this not to be true. (12 Dec 1998) |
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| nonsense | As used in genetics, relating to a mutation that causes a sequence such that the growing peptide chain terminates, often after several incorrect amino acid residues are incorporated. (05 Mar 2000) |
| nonsense codon | <molecular biology> The three codons, UAA (known as ochre), UAG (amber) and UGA (opal), that do not code for an amino acid but act as signals for the termination of protein synthesis. Any mutation that causes a base change which produces a nonsense codon results in premature termination of protein synthesis and probably a nonfunctional or nonsense protein. (13 Nov 1997) |
| nonsense mutation | <molecular biology> A mutation that causes a polypeptide chain to be ended prematurely. (13 Nov 1997) |
| nonsense strand | <molecular biology> DNA that does not code for part of a polypeptide chain or RNA.This includes introns and pseudo genes. In eukaryotes the majority of the DNA is noncoding. Noncoding strand refers to the so called nonsense strand, as opposed to the sense strand which is actually translated into mRNA. (18 Nov 1997) |
| nonsense suppression | Mutant tRNAs that read a chain termination codon as the signal for incorporation of a specific amino acid residue. (05 Mar 2000) |
| nonsense triplet | A trinucleotide (codon) in which a base change to a termination codon results in premature termination of the growing polypeptide chain and, consequently, incomplete protein molecules, a termination codon. (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) |
| Achard syndrome | <syndrome> Arachnodactyly with small receding mandible, broad skull, and joint laxity limited to the hands and feet; genetics unclear. (05 Mar 2000) |
| Achard-Thiers syndrome | <syndrome> One form of a virilizing disorder of adrenocortical origin in women, characterised by masculinization and menstrual disorders in association with manifestations of diabetes mellitus, such as glucosuria. (05 Mar 2000) |
| Achenbach syndrome | <syndrome> Haematoma of the finger pad with accompanying oedema; of unknown cause in the absence of disturbances in blood coagulation mechanisms. (05 Mar 2000) |
| achoo syndrome | <syndrome> A disorder characterised by nearly uncontrollable paroxysms of sneezing provoked in a reflex fashion by the sudden exposure of a dark-adapted subject to intensely bright light, usually sunlight. Inheritance: autosomal dominant. (05 Aug 1998) |
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