| familiaire trombocytemie (aandoening) | | familiaire trombocytemie | | familiale trombocytose
erfelijke trombocytemie
| | Familial thrombocytosis | | Familial thrombocythemia
Hereditary thrombocythemia
| | A type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation. The disease usually presents at birth but can be discovered at any time during life and thus can affect all ages. Familial thrombocytosis is caused by germline mutations in the THPO gene (3q26.3-q27) or in the MPL (MPL S505N) gene (1p34). |
| | Id | 720950009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D47.3 | | Term | Essentiële (hemorragische) trombocytemie |
| Target | M9962/3 | | Term | Essentiële trombocytemie |
| Target | Z86.0 | | Term | Persoonlijke anamnese met overige neoplasmata |
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| SNOMED CT to Orphanet simple map | 71493 |
| SNOMED CT to ICD-10 extended map | | Target | D75.8 | | Rule | TRUE | | Advice | ALWAYS D75.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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