| congenitale amegakaryocytaire trombocytopenie (aandoening) | | congenitale amegakaryocytaire trombocytopenie | | aangeboren amegakaryocytaire trombopenie
| | Congenital amegakaryocytic thrombocytopenia | | A rare inherited bone marrow failure syndrome with manifestation of an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. The exact prevalence is unknown and less than 100 cases have been reported in the literature. The inheritance pattern is autosomal recessive. |
| | Id | 716336002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D61.0 | | Term | Constitutionele aplastische anemie |
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| SNOMED CT to Orphanet simple map | 3319 |
| SNOMED CT to ICD-10 extended map | | Target | D61.0 | | Rule | TRUE | | Advice | ALWAYS D61.0 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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