| familiair bloedplaatjessyndroom met predispositie voor acute myelogene leukemie (aandoening) | | familiair bloedplaatjessyndroom met predispositie voor acute myelogene leukemie | | familiair bloedplaatjessyndroom met predispositie voor acute myeloïde leukemie
familiair bloedplaatjessyndroom met predispositie voor AML
familiaire bloedplaatjesstoornis met geassocieerde myeloïde maligniteit
| | Familial platelet syndrome with predisposition to acute myelogenous leukemia | | Familial platelet disorder with associated myeloid malignancy
| | Disease that is characterized by moderate thrombocytopenia, abnormal platelet function and the propensity to develop myeloid malignancies, in particular acute myelogenous leukemia. The prevalence is unknown but the disease has been reported in less than 20 families. Causative mutations have been identified in the RUNX1 gene (also known as AML1 or CBFA2; chromosome 21q22.3) in most of the analysed families. The condition is inherited as an autosomal dominant trait. |
| | Id | 725034002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D69.4 | | Term | Overige primaire trombocytopenie |
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| SNOMED CT to Orphanet simple map | 71290 |
| SNOMED CT to ICD-10 extended map | | Target | D69.4 | | Rule | TRUE | | Advice | ALWAYS D69.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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