293,031 терминов и синонимов из MeSH и LOINC
Lang Dictionary CODE | LUI | preferred no |
SUI | preference Yes / No |
Terms, descriptions |
||
CUI C0005859 | |||||||
Russian | Medical Subject Headings Russian | D001816 | L3341457 | preferred | S3868938 | Y | БЛУМА СИНДРОМ |
Russian | Medical Subject Headings Russian | D001816 | L0891310 | no | S1095127 | Y | BLUMA SINDROM |
Russian | MDRRUS | 10073032 | L15718649 | no | S19079280 | N | Синдром Блума |
Russian | MDRRUS | 10073032 | L15718649 | no | S19079280 | Y | Синдром Блума |
Russian | MDRRUS | 10073038 | L15789017 | no | S19024691 | Y | Врожденная телеангиэктатическая эритема |
Russian | Medical Subject Headings Russian | D001816 | L2226974 | no | S2565196 | Y | BLUMA-TORRE-MAKHASEKA SINDROM |
Russian | Medical Subject Headings Russian | D001816 | L3341458 | no | S3868939 | Y | БЛУМА-ТОРРЕ-МАХАСЕКА СИНДРОМ |
Medical Subject Headings | A0031743 | AT53896300 | An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase. | ||||
(CPTSP) CRISP Thesaurus | A0395131 | AT51224627 | autosomal recessive disorder characterized by telangiectatic erythema of the face, photosensitivity, dwarfism, and other abnormalities. | ||||
Medical Subject Headings Czech | A13057543 | AT231365866 | Vzácný autozomálně recesivně dědičný syndrom s poruchou růstu již v prenatálním období, imunitními poruchami, častějšími malignitami, fotosenzitivitou, erytémem s teleangiektaziemi vznikajícími v dětství zejm. na obličeji s možným šířením na horní končetiny. Bývají též orgánové změny, snížená fertilita, častější diabetes. Mutován je gen BLM pro DNA helikázu (Bloom helikáza podílející se na udržení genetické stability) lokalizovaný na 15q26.1. Postihuje především potomky východoevropských Židů (Aškenazy). (cit. Velký lékařský slovník online, 2017 http://lekarske.slovniky.cz/) | ||||
NCI Thesaurus | A7569165 | AT197992219 | Bloom syndrome is an autosomal recessive disorder associated with mutations in BLM gene encoding protein that belongs to the family of DNA helicases. It is characterized by predisposition to cancer, immunodeficiency, high sensitivity to UV and genomic instability of somatic cells. (Oncogene 2001 Dec 13;20(57):8276-80) | ||||
NCI NCI Dictionary of Cancer Terms | A7569165 | AT198127873 | A rare, inherited disorder marked by height that is shorter than average, a narrow face with redness and a rash, a high-pitched voice, and fertility problems. Patients with this disorder have an increased risk of cancer, especially leukemia and osteosarcoma (bone cancer). Bloom syndrome is caused by changes in a protein that normally helps cells make copies of the DNA. Changes in this protein cause many breaks, rearrangements, and other mutations in the DNA. It is a type of autosomal recessive genetic disease. |