| ¿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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| RS | radioscaphoid; random sample; rating schedule; Raynaud syndrome; recipient's serum; rectal sinus; re... |
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| RTS | real time scan; Rett syndrome; revised trauma score; right toestrike; Rothmund-Thomson syndrome; Rub... |
| 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... |
| RS | Rett Syndrome |
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| RTT | Rett Syndrome |
| "syndrome X" | syndrome |
| MDS | 7--myelodysplastic syndrome |
| ACS | Abdominal compartment syndrome |
| Rett syndrome | <neurology, syndrome> The syndrome that bears his name was first described by Rett (1966, 1977). Hagberg (1985) estimated the frequency of the disorder to be about 1:15,000 in southwestern Sweden. Among girls aged 0 to 18 years in North Dakota, Burd et al. (1991) found the frequency of Rett syndrome to be 1 in 19,786. Hagberg (1983) described 35 patients, all girls from 3 countries (France, Portugal and Sweden), with a uniform and striking, progressive encephalopathy. After normal development up to the age of 7 to 18 months, developmental stagnation occurred, followed by rapid deterioration of high brain functions. Within 1.5 years this deterioration progressed to severe dementia, autism, loss of purposeful use of the hands, jerky truncal ataxia, and 'acquired' microcephaly. Thereafter, a period of apparent stability lasted for decades. Additional neurologic abnormalities intervened insidiously, mainly spastic paraparesis, vasomotor disturbances of the lower limbs, and epilepsy. A striking deceleration of growth has been found across all measurements in 85 to 94% of girls with Rett syndrome and may provide the earliest clinical indication of this disorder. The metabolic rate in patients with Rett syndrome is often lower while sleeping but rates while actively awake do not differ between afected and control groups. The presence of metatarsal and metacarpal abnormalities in some patients with Rett syndrome prompted radiologic studies of 17 cases. Short fourth and/or fifth metatarsals were identified in 11 (65%) and short fourth and/or fifth metacarpals in 8 of 14 (57%). Reduced bone density in the hands was found in 12 of 14 cases (86%). The exclusive involvement of females is best explained by X-linked dominant inheritance with lethality in the hemizygous males. By this hypothesis, all cases are new mutations. One instance of 2 affected half-sisters born to the same mother is known. This is explicable on the basis of gonadal mosaicism or X-autosome translocation in the mother. However, no chromosomal abnormality was found. Another possible mechanism for only female cases is that called metabolic interference. According to this suggestion, the homozygous female and the hemizygous male are normal, the heterozygous female is abnormal because of an adverse interaction of the gene products from the 2 X chromosomes. Because of lyonization, these products would be produced in different cells. Light-microscopy shows evidence of white matter disease and ultrastructurally, many neurons and oligodendroglia contained membrane-bound electron-dense inclusions with a distinct lamellar and granular substructure with a striking decrease in the dendritic trees of selected cortical areas, chiefly projection neurons of the motor, association, and limbic cortices. Clinical features: progressive encephalopathy, severe dementia, autism, loss of purposeful hand use, jerky truncal ataxia, spastic paraparesis, vasomotor disturbances of legs, seizures and acquired microcephaly. Inheritance: X-linked dominant with lethality in hemizygous males. Incidence: approximately 1 in 15,000 (22 Jan 1998) |
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| Rett's syndrome | <syndrome> A progressive syndrome of autism, dementia, ataxia, and purposeless hand movements; associated with hyperammonaemia, principally in girls. (05 Mar 2000) |
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| Rett | Andreas, 20th century Austrian paediatrician. See: Rett'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) |
| acute brain syndrome | <syndrome> A condition of severe confusion or rapid change in brain function. This often occurs as the result of a mental illness or physical illness. Symptoms include lethargy, agitation, confusion, disorientation and delirium. (27 Sep 1997) |
Synonyms : Rett Disorder, Rett's Disorder, Rett's Syndrome, Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome, Cerebroatrophic Hyperammonemias, Hyperammonemia, Cerebroatrophic, Hyperammonemias, Cerebroatrophic, Retts Syndrome, Syndrome, Rett, Syndrome, Rett's
| Rett syndrome |
an X-linked disorder marked by progressive neurological deterioration, seizures and cognitive impairment
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