| 영문 | trisomy | 한글 | 세염색체증 |
|---|---|---|---|
| 설명 | 이배수성 세포에 한 형의 제3염색체가 존재하는 것(2n+1). 즉, 상동염색체쌍 외에 한 개의 염색체를 여분으로 갖는 개체 또는 세포. 삼염색체라고도 한다. 여분으로 포함된 염색체가 상동염색체쌍 중 어느 한 염색체와 상동성이 있는 경우를 말한다. 상동성이 없을 때는 과잉염색체라고 한다. 추가되는 염색체는 상동염색체의 수만큼 가능하며, 1상동염색체가 세염색체로 되는 것 외에 복수의 염색체쌍이 세염색체로 되는 경우도 있다. 세염색체가 존재하면 감수분열에서는 특이한 3가염색체가 형성되고, 유전양식도 정상적인 2가염색체의 경우와 달리 3염색체성이 된다. 사람의 다운증후군은 제21의 세염색체에 원인이 있는 유전장애이다. |
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| 영문 | testicular feminization syndrome | 한글 | 고환여성화증후군 |
|---|---|---|---|
| 설명 | 이차성장을 포함하여, 외성기의 발육은 여성이지만 고환이 존재하고, 자궁과 자궁관이 결핍되어 있는 남성 거짓남녀한몸증의 극단적 형태이다. 이것은 테스토스테론의 작용에 대한 말단기관의 저항에 기인한다. |
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| 영문 | irritable bowel syndrome | 한글 | 과민성대장증후군 |
|---|---|---|---|
| 설명 | 배변장애, 복통, 복부팽만 등의 증상이 있으나 기질적인 병변이 없음이 확인된 예를 총망라한 임상 증후군이다. 가장 흔한 소화기 질환이며(전소화기 환자의 70~80%) 가장 흔한 질병(전체 인구의 약 20%)이다. 여성이 남성에 비해 2배 정도 많이 발생하며 30대 및 40대에서 호발하고 선진 공업국에서 많이 발생한다. 진단을 위해서는 병력 청취가 가장 중요하고 각종 검사로서 기질병을 제외해야 한다. 치료로는 안정요법(정신과적 면담 및 심리요법, 신경안정제), 식사요법(고섬유질 음식 섭취, 자극성 음식 피하기), 약물 요법(창자경련 진정제, 변비 완화제, 지사제) 등을 사용한다. |
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| 영문 | withdrawal syndrome | 한글 | 금단증후근 |
|---|---|---|---|
| 설명 | 알코올, 마약, 바비투르산계 최면약 등의 약물을 장기간 복용하여 약물이 없이는 견딜 수 없게된 뒤, 그 약물을 중지한 경우에 나타나는, 고통이 수반되는 신체적 증상을 말한다. 연속 복용의 기간에 따라 증상이 무거워진다. 통상적으로 구토, 설사, 혈압상승, 빠른맥, 땀남, 혼수 등의 증상이 나타난다. |
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| 영문 | organic brain syndrome | 한글 | 기질적 뇌증후군 |
|---|---|---|---|
| 설명 | 뇌의 기질적인(organic-:이 말은 기능적인(functional)에 반하는 말로써) 모든 검사를 시행하면 어떤 이상을 발견할 수 있다는 뜻이다. 바꾸어 말하면, 기능적인 이상에 의한 뇌증후군은 어떠한 검사로도 이상을 발견할 수 없으나 분명히 환자에게 이상증상이 나타났을 때 이를 묶어서 말한다. 이상에 의해 신경학적인 이상을 나타내는 일련의 병적현상을 모두 통틀어 말한다. 이 병은 흔히 보아 마치 정신병환자처럼 말을 횡설수설하고, 알아들을 수 없는 말을 하며, 때로는 다른 사람에게 공격적인 성향을 나타내기도 한다. 그리고 다른 사람과 도저히 교류를 할 수 없는 정서를 나타내기도 한다. 그러나, 이 병이 다른 정신병과 구별되는 특징적인 증상은 먼저, 의식의 혼탁이 동반되는 경우가 많고, 또한 그 증상의 정도가 변한다는 것이다. 즉, 아침에는 정상적인 행동을 하다가 오후가 되면, 의식이 흐려지면서 말을 횡설수설한다면, 이는 기질성뇌증후군일 가능성이 높다. |
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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... |
| Ts16 | Trisomy 16 |
|---|---|
| Ts19 | Trisomy 19 |
| T21 | Trisomy 21 |
| "syndrome X" | syndrome |
| MDS | 7--myelodysplastic syndrome |
| syndrome, trisomy 13 | Condition with three rather than the normal two chromosomes 13. Children born with this syndrome have multiple malformations and mental retardation due to the extra chromosome 13. The congenital malformations (birth defects) commonly include scalp defects, more than haemangiomas more than (blood vessel malformations) of the face and nape of the neck, cleft lip more than and palate, malformations of the heart and abdominal organs, and flexed fingers with extra digits. The mental retardation is profound. The iq is untestably low. The majority of trisomy 13 babies die soon after birth or in infancy. The condition is also called patau syndrome after the late geneticist klaus patau more than (at the university of wisconsin) who discovered the extra chromosome in 1960. (12 Dec 1998) |
|---|---|
| syndrome, trisomy 18 | There are three instead of the normal two chromosomes 18. Children with this condition have multiple malformations and mental retardation due to the extra chromosome 18. The children characteristically have low birth weight, small head (microcephaly), small jaw (micrognathia), malformations of the heart and kidneys, clenched fists with abnormal finger positioning, and malformed feet. The mental retardation is profound with the iq too low to edven test. Nineteen out of 20 (95%) of these children die before their first birthday. The condition is also called edwards syndrome in honor of the british physician and geneticist john edwards who discovered the extra chromosome in 1960. (12 Dec 1998) |
| syndrome, trisomy 21 | A common chromosome disorder due to an extra chromosome number 21 (trisomy 21). The syndrome causes mental retardation, a characteristic face, and multiple malformations. It is associated with a major risk for heart problems, a lesser risk of duodenal atresia (part of the intestines not developed), and a minor but still significant risk of acute leukaemia. Trisome 21 syndr0ome is also commonly called down syndrome after the 19th century english doctor langdon down who was curiously enough not the first person to describe the condition, added little to knowledge and, in great error, attributed the condition to a reversion to the mongoloid race. The disorder was also once called mongolism, a term now considered slang. (12 Dec 1998) |
| trisomy 13 syndrome | <syndrome> A condition with three rather than the normal two chromosomes 13. Children born with this syndrome have multiple malformations and mental retardation due to the extra chromosome 13. The congenital malformations (birth defects) commonly include scalp defects, haemangiomas (blood vessel malformations) of the face and nape of the neck, cleft lip and palate, malformations of the heart and abdominal organs, and flexed fingers with extra digits. The mental retardation is profound. The iq is untestably low. The majority of trisomy 13 babies die soon after birth or in infancy. The condition is also called patau syndrome after the late geneticist klaus patau (at the university of wisconsin) who discovered the extra chromosome in 1960. (17 Dec 1998) |
| trisomy 18 syndrome | <syndrome> There are three instead of the normal two chromosomes 18. Children with this condition have multiple malformations and mental retardation due to the extra chromosome 18. The children characteristically have low birth weight, small head (microcephaly), small jaw (micrognathia), malformations of the heart and kidneys, clenched fists with abnormal finger positioning, and malformed feet. The mental retardation is profound with the iq too low to even test. Nineteen out of 20 (95%) of these children die before their first birthday. The condition is also called edwards syndrome in honor of the british physician and geneticist john edwards who discovered the extra chromosome in 1960. (12 Dec 1998) |
| trisomy 20 syndrome | <syndrome> Profound mental retardation with coarse facies, macrostomia and macroglossia, minor anomalies of the ears, pigmentary dysplasia of the skin, dorsal kyphoscoliosis, and other skeletal defects. (05 Mar 2000) |
| trisomy 21 syndrome | <syndrome> A common chromosome disorder due to an extra chromosome number 21 (trisomy 21). The syndrome causes mental retardation, a characteristic face, and multiple malformations. It is associated with a major risk for heart problems, a lesser risk of duodenal atresia (part of the intestines not developed), and a minor but still significant risk of acute leukaemia. Trisome 21 syndr0ome is also commonly called down syndrome after the 19th century english doctor langdon down who was curiously enough not the first person to describe the condition, added little to knowledge and, in great error, attributed the condition to a reversion to the mongoloid race. The disorder was also once called mongolism, a term now considered slang. (12 Dec 1998) |
| trisomy 8 syndrome | <syndrome> Craniofacial dysmorphia, short wide neck but narrow cylindrical trunk, and multiple joint and digital defects. (05 Mar 2000) |
| trisomy C syndrome | <syndrome> Trisomy for any chromosome of group C, numbers 6 through 12, most often number 8. (05 Mar 2000) |
| trisomy D syndrome | <syndrome> A condition with three rather than the normal two chromosomes 13. Children born with this syndrome have multiple malformations and mental retardation due to the extra chromosome 13. The congenital malformations (birth defects) commonly include scalp defects, haemangiomas (blood vessel malformations) of the face and nape of the neck, cleft lip and palate, malformations of the heart and abdominal organs, and flexed fingers with extra digits. The mental retardation is profound. The iq is untestably low. The majority of trisomy 13 babies die soon after birth or in infancy. The condition is also called patau syndrome after the late geneticist klaus patau (at the university of wisconsin) who discovered the extra chromosome in 1960. (17 Dec 1998) |
| trisomy | <genetics, molecular biology> Term which indicates the presence of an additional whole chromosome. Each cell usually has 46 but in trisomy this is increased to 47. (13 Nov 1997) |
| trisomy 21 | <genetics, molecular biology> A congenital condition which is characterised by moderate to severe mental retardation, slanting eyes, a broad short skull, broad hands and short fingers. Other congenital abnormalities include heart defects, oesophageal atresia and an increased incidence of acute lymphocytic leukaemia. All of these findings are secondary to trisomy (an extra chromosome) of the 21st chromosome. Trisomy 21 can be detected in the first few months of pregnancy by amniocentesis. Risk factors include prior Down's child and mothers who become pregnant after age 40. Synonym: Down's syndrome. (27 Sep 1997) |
| 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) |
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|