C0002876 - A rare group of disorders that result in anemia that is caused by ineffective erythropoiesis, which is associated with multinuclear erythroblasts, and which may present in childhood. The most common mutations are in the CDAN1 and SEC23B genes. 1/10
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Terms, descriptions
CUI    C0002876
RussianMedical Subject Headings Russian D000742 L3338503preferred S3865984 Y АНЕМИЯ ДИЗЭРИТРОПОЭТИЧЕСКАЯ ВРОЖДЕННАЯ
RussianMedical Subject Headings Russian D000742 L0889987no S1093804 Y ANEMIIA DIZERITROPOETICHESKAIA VROZHDENNAIA
RussianMedical Subject Headings Russian D000742 L1515919no S1811828 Y DIZERITROPOETICHESKAIA ANEMIIA VROZHDENNAIA
RussianMDRRUS 10081467 L15745030no S19024530 N Врожденная дизэритропоэтическая анемия
RussianMDRRUS 10081457 L15745030no S19024530 N Врожденная дизэритропоэтическая анемия
RussianMDRRUS 10081457 L15745030no S19024530 Y Врожденная дизэритропоэтическая анемия
RussianMedical Subject Headings Russian D000742 L3347810no S3875289 Y ДИЗЭРИТРОПОЭТИЧЕСКАЯ АНЕМИЯ ВРОЖДЕННАЯ
Medical Subject Headings A0023682 AT100259483 A familial disorder characterized by ANEMIA with multinuclear ERYTHROBLASTS, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors (ERYTHROID PRECURSOR CELLS). Type II is the most common of the 3 types; it is often referred to as HEMPAS, based on the Hereditary Erythroblast Multinuclearity with Positive Acidified Serum test.
NCI Thesaurus A17689245 AT197961663 A rare congenital anemia caused by mutations in the CDAN1 and SEC23B genes.
NCI National Institute of Child Health and Human Development A17689245 AT224189866 A rare group of disorders that result in anemia that is caused by ineffective erythropoiesis, which is associated with multinuclear erythroblasts, and which may present in childhood. The most common mutations are in the CDAN1 and SEC23B genes.