| dominante bètathalassemie (aandoening) | | dominante bètathalassemie | | 'inclusion body'-bètathalassemie
| | Dominant beta-thalassemia | | Inclusion body beta-thalassemia
| | Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia. Prevalence of this form is not known. Presents with moderate to severe anemia, jaundice and splenomegaly. Rare mutations in the beta-globin HBB gene result in synthesis of extremely unstable beta-globin variants which precipitate in erythroid precursors causing ineffective erythropoiesis. |
| | Id | 716682000 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 231226 |
| SNOMED CT to ICD-10 extended map | | Target | D56.1 | | Rule | TRUE | | Advice | ALWAYS D56.1 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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