| stollingsstoornis bij deficiëntie van cytosolisch fosfolipase A2-alfa (aandoening) | | stollingsstoornis bij deficiëntie van cytosolisch fosfolipase A2-alfa | | PLA2G4A-gerelateerde trombocytenfunctiestoornis
trombocytopathie bij cPLA2a-deficiëntie
| | Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder | | PLA2G4A-related platelet dysfunction
Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency
PLA2G4A (phospholipase A2 group IVA) related platelet dysfunction
| | A rare genetic hematologic and intestinal disease characterized by childhood onset of bleeding tendency with epistaxis, gum bleeding, gastrointestinal bleeding, hematuria, and menorrhagia due to impaired platelet aggregation and secretion, as well as recurrent gastrointestinal ulcer. Mildly reduced levels of coagulation factor XI have been reported in addition. |
| | Id | 1172901009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D69.1 | | Term | Kwalitatieve trombocytenafwijkingen |
| Target | E88.0 | | Term | Stofwisselingsstoornissen van plasmaproteïne, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 477787 |
| SNOMED CT to ICD-10 extended map | | Target | D69.1 | | Rule | TRUE | | Advice | ALWAYS D69.1 | 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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