| ¿µ¹® | Klinefelter syndrome | ÇÑ±Û | Ŭ¶óÀÎÆçÅÍÁõÈıº |
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| ¼³¸í | 1942³â H.F. Ŭ¶óÀÎÆçÅͰ¡ ±âÀçÇÑ ¼º¿°»öüÀÌ»óÁõÈıº. Á¤»óÀÎÀÇ ¼º¿°»öüÇüÀº ³²¼º XY, ¿©¼º XX¸¦ ³ªÅ¸³»Áö¸¸, ÀÌ ÁõÈıº¿¡¼´Â ¼º¿°»öüÇüÀÌ XXY. XXYY, XXXXY µîÀÇ ¿©·¯ °¡Áö ÀÌ»óÇÑ ÇüŸ¦ ³ªÅ¸³½´Ù. ¿Ü¼º±â-ü°Ý-¼ºÂ¡ µîÀÇ Æ¯Â¡ÀûÀÎ Áõ¼¼·Î º¼ ¶§¿¡ ¿ÏÀüÇÑ ³²¼ºÀÌ °áÈ¥ÇÏ¿© ¼º»ýȰ±îÁö ÇÏ¿´À¸³ª, ÀÚ½ÄÀÌ ¾øÀÚ ºÎºÎ°¡ ÇÔ²² º´¿øÀ» ã¾Æ°¡¼ ¿°»öü¸¦ °Ë»çÇØ º¸°í ³²ÀÚ¿¡°Ô ÀÌ ÁõÈıºÀÌ ÀÖÀ½À» ¾Ë°Ô µÇ´Â °æ¿ì°¡ ¸¹´Ù. ÀÌ ¹Û¿¡ ¼ºÀÎÀÌ µÇ¾î ³ªÅ¸³ª´Â ÁÖ¿ä Áõ¼¼¸¦ µé¸é, ÀÛÀº°íȯ, ¿©¼ºÇü À¯¹æÁõ, ¹«Á¤ÀÚÁõ, ºÒÀÓ, ¿äÁß °í³ªµµÆ®·ÎÇÉÀÇ »ó½Â, Áö´É ÀúÇÏ µîÀÌ´Ù. Ä¡·á´Â 2Â÷ ¼ºÂ¡ÀÇ ÃËÁøÀ» À§ÇÏ¿© È£¸£¸ó¿ä¹ý¿¡ ÀÇÇÑ ³²¼ºÈ¸¦ ½ÃµµÇÑ´Ù. |
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| ¿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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| KS | Kallmann syndrome; Kaposi sarcoma; Kartagener syndrome; Kawasaki syndrome; keratan sulfate; ketoster... |
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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... |
| KS | Klinefelter syndrome |
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| "syndrome X" | syndrome |
| MDS | 7--myelodysplastic syndrome |
| ACS | Abdominal compartment syndrome |
| AIDS | Acquire Immune Deficiency Syndrome |
| syndrome, klinefelter | The most common single cause of hypogonadism (underfunction of the gonads) and infertility in men, klinefelter syndrome is due to a chromosome abnormality with xxy (plus additional x or y chromosomes). It affects about 1 in 500 males and results in small testes (hypogenitalism), underproduction of testosterone and infertility (hypogonadism), and a long-limbed, long-trunked, relatively tall, slim build. Klinefelter boys tend to have learning and/or behavioural problems. at adolescence there is little growth of facial hair and a third of boys develop gynaecomastia (enlargement of the male breast). Named for the physician harry klinefelter who with e.c. Reifenstein, jr. And fuller albright (the founder of modern endocrinology) described the condition in 1942 long before its chromosomal basis became known. (12 Dec 1998) |
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| klinefelter's syndrome | <syndrome> A condition characterised by small testes with hyalinization of the seminiferous tubules, variable degrees of masculinization, azoospermia and infertility, and increased urinary excretion of gonadotropin. Patients tend to be tall, with long legs, and about half have gybecomastia. It is associated typically with an xxy chromosome complement, although variants include xxyy, xxxy, xxxxy, and several mosaic patterns (xy/xxy, xxy, xxxy, etc.). (12 Dec 1998) |
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| Klinefelter syndrome | <syndrome> A genetic syndrome observed in many mammals caused by the presence of an extra X chromosome in the male karyotype. The normal male is XY but in this disorder the chromosomal abnormality is XXY, and affects only males. Infertility is common. In humans, the infant appears normal at birth, but the defect usually becomes apparent in puberty when secondary sex characteristics fail to develop along with female escutcheon, gynaecomastia, tall stature, small testes, aspermatogonia and Leydig cell hyperplasia. It is characterised by small testes, feminine appearance, sterility (except in the case of genetic mosaics) and there is no effect on performance IQ but the verbal IQ can be affected. The genetic abnormality can be detected in 0.003% of spontaneous abortions and is associated with nondisjunction in paternal meiosis I (53%), maternal meiosis I (34%) and maternal meiosis II (9%). In a large number of patients the karyotype shows a 47,XXY constitution and in 10% of the cases there is mosaicism and some of these mosaics can be fertile. Patients with mosaic karyotypes that include 48,XXXY and 49,XXXXY can show short stature, mental retardation, hypogonadism and other abnormalities. Incidence: 1 in 1000 to 1 in 2000 newborn males. (17 Dec 1997) |
| Klinefelter | Harry F., Jr., U.S. Physician, *1912. See: Klinefelter's syndrome. (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) |
| Acquired Immunodeficiency Syndrome | <immunology, syndrome> An epidemic disease caused by an infection by human immunodeficiency virus (HIV-1, HIV-2), a retrovirus that causes immune system failure and debilitation and is often accompanied by infections such as tuberculosis. AIDS is spread through direct contact with bodily fluids. Acronym: AIDS (10 May 1997) |
| acrofacial syndrome | Mandibulofacial dysostosis associated with malformations of the extremities such as defective radius and thumbs, and radioulnar synostosis. See: Treacher Collins' syndrome Synonym: acrofacial syndrome. Origin: dys-+ G. Osteon, bone, + -osis, condition (05 Mar 2000) |
| acroparesthesia syndrome | <syndrome> Abnormal sensation such as numbness and tingling in the hands, usually in middle-aged women; classic symptom of carpal tunnel syndrome. (05 Mar 2000) |
| acth syndrome, ectopic | Symptom complex due to acth production by non-pituitary neoplasms. (12 Dec 1998) |
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