| 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. |
||
| 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. |
||
| 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. |
||
| 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. |
||
| 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. |
||
| fra(X) | fragile X chromosome, fragile X syndrome |
|---|---|
| FS | factor of safety; Fanconi syndrome; Felty syndrome; fibromyalgia syndrome; field stimulation; Fisher... |
| MS | Maffuci syndrome; maladjustment score; mandibular series; Marfan syndrome; Marie-Strumpell [syndrome... |
| AFRAX | autism-fragile X [syndrome] |
| FMR | fragile site mental retardation [syndrome]; Friend-Moloney-Rauscher [antigen] |
| FRA(X) | Fragile X syndrome |
|---|---|
| FRAXA | Fragile X syndrome |
| FXS | Fragile X syndrome |
| FS | Fragile Sites |
| Fra(X) | Fragile X |
| syndrome, fragile x | The most common heritable form of mental retardation. Fragile x syndrome is due to mutation (changes) at the fragile x site and so perforce is x-linked (carried on the x chromosome). Although it is usually more severe in males than females, the syndrome is due to a dynamic mutation (a trinucleotide repeat) that can change in length and hence in severity from generation to generation, from person to person, and even within a given person. The fragile x syndrome is also known as the martin-bell syndrome in honor of their discovery of it in 1943. (12 Dec 1998) |
|---|
| fragile X syndrome | <syndrome> most frequent cause of mental retardation. There is an expanded trinucleotide repeat CGG in the fra(X) gene. There is usually a constricted section on the long arm of the X chromosome. After puberty these patients often exhibit large prominent ears, long narrow face, coarse facial features and macroorchidism. Mental retardation in males is characteristic although the manifestations of the syndrome are highly variable. A preponderance of males are affected but it also affects 30% of carrier females and about 20% of obligate carrier males are not affected. The complexity in the inheritance pattern comes from the fact that these obligate carrier males (transmitting males) pass on the mutation to all their daughters (unaffected). most of the sons of carrier females with the mutation are mentally retarded but of their daughters, only 1/3 are retarded while 1/3 are borderline retarded and 1/3 are normal. Penetrance of the disease is variable within families and among siblings. Another unique characteristic of this syndrome, which is referred to as the Sherman Paradox is the fact that the risk of a family member being abnormal when gene-positive depends on the position of the proband in the pedigree. Sons of phenotypically normal but transmitting males have no risk of being mentally affected, but grandsons and great-grandsons of the transmitting a male have a much higher risk of mental retardation (40% and 50%, respectively). On the other hand, if the carrier female expresses the mental handicap her sons have a 50% risk of mental retardation. The classical method of confirming diagnosis is culture of lymphocytes in a folate-free medium (or supplemented with trimethoprim, methotrexate or FUdR) and microscopic detection of the fragile site (Xq27.3). Expression is seen in less than 50% of the cells of affected individuals but the test is not applicable to carrier detection as there is a high false negative rate (60%). The fragile-X gene (FMR-1), which contains tandemly repeated trinucleotide sequences (CGG repeats) on its 5' end, can be detected with PCR or Southern blot techniques. Normal controls show 6-50 CGG repeats, whereas mutation in affected males or heterozygous females can contain as many as 1,000 CGG repeat units. The test is indicated for individuals with compatible mental retardation, developmental delays or autism, or for those that have a family history of the syndrome. It is also indicated for prenatal detection in offspring of carrier females. Inheritance: sex-linked. Incidence: 1 in 1200 males and 1 in 2500 females. (17 Dec 1997) |
|---|---|
| chromosome fragile sites | Heritable sensitive regions of chromosomes which show up in vitro as non-staining bands. They are associated with chromosome breakage and other aberrations, and, when located on sex chromosomes, they produce phenotypic abnormalities. No abnormal phenotype has been definitely identified with autosomal fragile sites, but some rare autosomal recessive disorders may be due to homozygosity for fragile sites. Fragile sites are designated by the letters "fra" followed by the designation for the specific chromosome and locus. (12 Dec 1998) |
| fragile site | Places on chromosomes that tend to break more often than other places. These places also tend to be where chromosomal translocations (a type of chromosomal mutation) occur. (09 Oct 1997) |
| fragile x chromosome | X chromosome with a fragile site associated with a frequent form of mental retardation. The fragile X chromosome was first sighted by Herbert A. Lubs in 1969. The fragile X is also called FRAXA (the second A signifies it was the first FRAgile site found on the X chromosome). It is due a trinucleotide repeat (a recurring motif of 3 bases) in the DNA at that spot. (12 Dec 1998) |
| 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) |
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|