| bloedingsstoornis door P2Y12-defect (aandoening) | | bloedingsstoornis door P2Y12-defect | | bloedingsstoornis door ADP-bloedplaatjesreceptor P2Y12-defect
| | Defect of purinergic receptor p2y G protein-coupled 12 | | P2Y12 defect
P2Y12 (purinergic receptor p2y G protein-coupled 12) defect
ADP platelet receptor P2Y12 defect
| | A rare congenital hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate. Caused by mutations in the P2RY12 gene (3q24-q25) which result in the premature truncation of the P2Y12 receptor or in the synthesis of a dysfunctional P2Y12 receptor. Transmission is autosomal recessive. |
| | Id | 725291001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D69.8 | | Term | Overige gespecificeerde hemorragische aandoeningen |
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| SNOMED CT to Orphanet simple map | 36355 |
| SNOMED CT to ICD-10 extended map | | Target | D69.8 | | Rule | TRUE | | Advice | ALWAYS D69.8 | 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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