293,031 терминов и синонимов из MeSH и LOINC
Lang Dictionary CODE | LUI | preferred no |
SUI | preference Yes / No |
Terms, descriptions |
||
CUI C0001916 | |||||||
Russian | Medical Subject Headings Russian | D000417 | L3337689 | preferred | S3865170 | Y | АЛЬБИНИЗМ |
Russian | Medical Subject Headings Russian | D000417 | L0889634 | no | S1093451 | Y | AL'BINIZM |
Russian | MDRRUS | 10001557 | L15732976 | no | S19016746 | N | Альбинизм |
Russian | MDRRUS | 10001557 | L15732976 | no | S19016746 | Y | Альбинизм |
Medical Subject Headings | A0021251 | AT38143293 | General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair. | ||||
(CPTSP) CRISP Thesaurus | A0473049 | AT51220857 | general term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair. | ||||
Medical Subject Headings Czech | A13057344 | AT211605490 | Vrozený nedostatek, porucha biosyntézy, transportu a distribuce pigmentu melaninu v kůži, vlasech, duhovce oka, druh depigmentace. Nejč. vzniká na podkladě autozomálně recesivní dědičnosti. Incidence se pohybuje kolem 1:20 000. Postižený jedinec - albín - má bělavě růžovou kůži, růžové oči, bílé vlasy a je velmi citlivý na sluneční záření (nemůže se opálit, ale jen "spálit"). Další příznaky jsou snížená zraková ostrost, nystagmus, strabismus, absence binokulárního vidění. A. se vyskytuje v několika základních variantách generalizovaný (okulokutánní) a., okulární a., parciální a. Podstatou je porucha enzymu podílejícího se na syntéze melaninu. Mnohá domácí a laboratorní zvířata jsou albíni (králík, bílé myšky); lat. albus bílý. (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ ) | ||||
NCI Thesaurus | A17697835 | AT198085375 | A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair and skin. | ||||
NCI NCI Dictionary of Cancer Terms | A17697835 | AT198097611 | A group of genetic conditions marked by little or none of the pigment melanin in the skin, hair, and/or eyes. People with albinism may have vision problems and white or yellow hair; reddish, violet, blue or brown eyes; and pale skin. | ||||
CHV | A18608362 | AT130673099 | inherited disease where in which there is a deficiency or absence of pigment in the eyes, skin, or hair. | ||||
CHV | A18626913 | AT130673100 | inherited disease where in which there is a deficiency or absence of pigment in the eyes, skin, or hair. | ||||
CHV | A18645510 | AT130673101 | inherited disease where in which there is a deficiency or absence of pigment in the eyes, skin, or hair. | ||||
MSHNOR | A20193909 | AT211623231 | Generell betegnelse for flere former av arvelige defekter i aminosyremetabolismen hvor det er defekt eller manglende pigment i øynene, huden eller håret. | ||||
HPO | A24679738 | AT206285743 | An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina). [HPO:sdoelken] |