| 영문 | albinism | 한글 | 백피증, 백색증 |
|---|---|---|---|
| 설명 | 선천성으로 멜라닌(피부, 모발, 눈의 색을 나타내는 인간의 색소)의 결핍으로 인하여 모발, 피부 혹은 눈에 색갈이 없어 희게 보이게 되는 병. 멜라닌은 자외선을 흡수하여 피부를 태양광선으로 부터 보호하는 작용이 있기 때문에 이 병과 같이 멜라닌이 없을 경우에 태양 광선에 의한 피부의 손상이 심해지고 피부암과 기타의 암의 위험이 높다. |
||
| OCA | oculocutaneous albinism; olivopontocerebellar atrophy; oral contraceptive agent |
|---|---|
| ADFN | albinism-deafness [syndrome]; albinism-deafness syndrome |
| AR | 1) Aortic Regurgitation = AI Echo소견 &... |
| AROA | autosomal recessive ocular albinism |
| ACD | 1) Absolute Cardiac Dullness; 절대심둔탁음 2) Anemia of Chronic Disease &nbs... |
| OCA | Oculocutaneous albinism |
|---|---|
| AD | Autosomal Dominant |
| ADCA | Autosomal Dominant Cerebellar Ataxia |
| ADPKD | Autosomal Dominant Polycystic Kidney Disease |
| ADNFLE | Autosomal dominant nocturnal frontal lobe epilepsy |
| albinism, oculocutaneous | Heterogeneous group of autosomal recessive disorders comprising at least four recognised types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types. (12 Dec 1998) |
|---|---|
| oculocutaneous albinism | An autosomal recessive deficiency of pigment in skin, hair, and eyes; in the tyrosinase negative type, there is an absence of tyrosinase; in the tyrosinase positive type, there is normal tyrosinase which cannot enter pigment cells; it is transmitted by an autosomal recessive inheritance. The compound heterozygote is normal so the two forms are not allelic. There are several types: type IA is characterised by absence of tyrosinase with life-long complete absence of melanin, marked photophobia, and nystagmus. Type IB, yellow albinism with low or absent tyrosinase; improves with age. Type II, with normal tyrosinase activity is the most common; hair darkens and nevi and freckles develop. Type III is characterised by absent tyrosinase but pigmentation of the iris in the first decade. Type IV in Africans with normal tyrosinase. Type V with red hair. Type VI, Hermansky-Padlak syndrome, with haemorrhage due to platelet deficiency and low to absent tyrosinase. Synonym: Hermansky-Pudlak syndrome type VI. (05 Mar 2000) |
| autosomal dominant | <genetics> Requires only one affected parent have the trait to pass it to offspring. (02 Jan 1998) |
| kidney, polycystic, autosomal dominant | A genetic disorder with autosomal dominant inheritance characterised by multiple cysts in both kidneys and progressive deterioration of renal function. It is usually caused by a mutant gene at the pkd1 locus on the short arm of chromosome 16, though mutations elsewhere in the genome can also cause the disease. The age of onset of symptoms varies widely. (12 Dec 1998) |
| cephalo-oculocutaneous telangiectasia | An angioma involving the skin of the face, orbit, meninges, and brain. See: Sturge-Weber syndrome. (05 Mar 2000) |
| oculocutaneous | Relating to the eyes and the skin. (05 Mar 2000) |
| oculocutaneous syndrome | <syndrome> Bilateral uveitis with iritis and glaucoma, premature graying of the hair, and alopecia, vitiligo, and dysacusia; related to Harada's syndrome and sympathetic ophthalmia. Synonym: oculocutaneous syndrome, uveocutaneous syndrome. Origin: Cecile and Oscar Vogt (05 Mar 2000) |
| albinism | <dermatology> Condition in which no melanin (or other pigment) is present. (05 Feb 1998) |
| albinism, ocular | Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is x-linked (nettleship-falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity. (12 Dec 1998) |
| autosomal | Pertaining to an autosome. (05 Mar 2000) |
| autosomal gene | A gene located on any chromosome other than the sex chromosomes (X or Y). (05 Mar 2000) |
| autosomal recessive | <genetics> Mutation carried on an autosome that is deleterious only in homozygotes. (02 Jan 1998) |
| recessive, autosomal | A gene on a nonsex chromosome (an autosome) that expresses itself only when there is no different gene present at that locus (spot on the chromosome). For example, cystic fibrosis (cf) is an autosomal recessive disorder. A cf child has the cf gene on both chromosome 7's (and so is said to be homozygous for cf). (12 Dec 1998) |
| rufous albinism | A pigmentary anomaly of blacks, characterised by red or yellow-red hair colour, copper-red skin, and often by dilution of iris pigment. Synonym: rufous albinism. Origin: G. Xanthos, yellowish (05 Mar 2000) |
| cutaneous albinism | An autosomal dominant condition characterised by patterned loss of skin pigment on extremities and ventral thorax; a white forelock is often present, but no ocular findings. (05 Mar 2000) |
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|