| 영문 | Down syndrome | 한글 | 다운증후군 |
|---|---|---|---|
| 설명 | 사람의 46개 염색체 중 제 21번 염색체의 수가 1개 더 많아지므로써 나타나는 병이다. 환자의 생김새가 마치 몽고 사람과 닮았다 하여 일명 몽고증(mongolism)이라고 하였으나 잘못된 이름이다. 이 병은 반드시 21번 염색체가 3개가 되는 경우이외에도 21번 염색체의 일부분이 다른 염색체의 일부분과 교환이 되는 translocation형 등의 다른 염색체이상에서도 볼 수가 있다. 발생 빈도는 출생아 700~1000명중 1명 꼴로 나타나며, 염색체 이상병 중에 가장 많은 것으로 알려져 있다. 이 병의 발생빈도는 산모의 출산연령과 밀접한 관계가 있어, 35세 이후가 되면 기하 급수적으로 이 질환자의 출산수가 증가한다. 일반적으로 이 질환에 있어서 약 3분의 1은 모친의 출산연령에 의존하지 않고, 나머지 약 3분의 2는 모친의 연령과 직접 관련이 있는 것으로 보고 있다. 진단은 특징적인 생김새, 즉 몽고 사람같이 눈꼬리가 위로 치켜져 있고 눈거풀이 두꺼우며 콧등이 낮은 특징적인 얼굴 모습, 또한 근육의 긴장도가 저하되고 젖을 빠는 힘과 울음 소리가 약하며 손바닥의 좌우를 가르는 한줄의 손금(원숭이와 같은 형태이다) 등의 특징적인 소견에 의해 보조진단을 하고 최종적으로 염색체 분석에 의해 확진을 한다. 이 다운증후군의 환자는 대개 지능이 저하되어 있고, 여러 가지 종류의 선천성 심장기형을 많이 동반하고 있다. |
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| ART | absolute retention time; Accredited Record Technician; acoustic reflex test; algebraic reconstructio... |
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| CT | calcitonin; calf testis; cardiac tamponade; cardiothoracic [ratio]; carotid tracing; carpal tunnel; ... |
| SPT | secretin-pancreazymin [test]; single patch technique; sleep period time; spectrin; station pull-thro... |
| BCP | basic calcium phosphate; birth control pill; blue cone pigment; Blue Cross Plan; bromcresol purple |
| CBBM | color blindness, blue mono-cone-monochromatic type |
| GCP | Growth cone particle |
|---|---|
| prcd | Progressive rod-cone degeneration |
| CRD | cone-rod dystrophy |
| EPC | ectoplacental cone |
| GC | growth cone |
| cone down | To narrow a beam of X-rays to a region of interest using a collimator or cone; colloq., to delimit one's attention or activities. (05 Mar 2000) |
|---|---|
| long cone technique | The use of a cone distance of 14 inches or more in making oral roentgenographs. (05 Mar 2000) |
| bearing down | Expulsive effort of a parturient woman in the second stage of labour. (05 Mar 2000) |
| bearing-down pain | A uterine contraction accompanied by straining and tenesmus; usually appearing in the second stage of labour. (05 Mar 2000) |
| reflex, let down | The let down reflex of the mother is an involuntary reflex during breastfeeding which causes the milk to flow freely. (12 Dec 1998) |
| milk let-down reflex | Release of milk from the breast following tactile stimulation of the nipple; the afferent path is postulated to exist from the nipple to the hypothalamus; the efferent limb is represented by the neurohypophysial release of oxytocin into the systemic circulation; contraction of myoepithelial elements within the breast, caused by oxytocin, moves milk into the collecting ducts and toward the nipple. Synonym: let-down reflex, milk let-down reflex. (05 Mar 2000) |
| head-down tilt | Posture while lying with the head lower than the rest of the body. Extended time in this position is associated with temporary physiologic disturbances. (12 Dec 1998) |
| syndrome, down | A common disorder due to a chromosome abnormality and specfically due to an extra chromosome number 21 (trisomy 21). Down syndrome includes 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. The name down syndrome comes from the 19th century english doctor langdon down, a misnomer since he was curiously enough not the first person to describe the condition and, in great error, attributed the condition to a reversion to the mongoloid race. Hence, the old name mongolism, now considered slang. (12 Dec 1998) |
| down | <dermatology, zoology> Fine, soft feathers, soft, fine hair. (04 Mar 1998) |
| Down, John Langdon | <person> English physician, 1828-1896. See: Down's syndrome. (05 Mar 2000) |
| down promoter mutation | <molecular biology> A mutation (a change in base pair sequence) in a promoter region, this results in lower gene expression (less transcription of the gene occurs). (09 Oct 1997) |
| down-regulation | <physiology> Development of a refractory or tolerant state consequent upon repeated administration of a pharmacologically or physiologically active substance. It is the process that decreases ligand and receptor interactions or reduces the responsiveness of a cell to a stimulus following first exposure. This is often accompanied by an initial decrease in affinity of receptors for the agent and a subsequent reduction in the number of available receptors expressed on the surface which can result from internalisation of the ligand:receptor complex or from decreased expression of the receptor. Classically the concept referred to hormone receptors but contemporary usage includes other cell surface receptors. (03 Jul 1999) |
| Down's syndrome | <genetics, syndrome> A congenital disorder in which a person is born with three copies of chromosome 21 (trisomy 21). Clinical features include 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. Trisomy 21 can be detected in the first few months of pregnancy by amniocentesis. Risk factors include prior child with Down's syndrome and mothers who become pregnant after age 40. This disorder was formerly known as mongolism. Incidence: 1 in 1000 births. (09 Oct 1997) |
| down syndrome | <radiology> Trisomy 21, mongolism, atlantoaxial subluxation, Wormian bones, absent/small paranasal sinuses, endocardial cushion (AV canal) defects, aberrant right subclavian artery, 2 ossification centres for manubrium (90%), 11 or 13 ribs, duodenal atresia / stenosis, tracheo-oesophageal fistula, Hirschsprung disease (12 Dec 1998) |
| turn down ratio | The lowest load at which a boiler will operate efficiently as compared to the boiler's maximum design load. (05 Dec 1998) |
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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