| hemorragische ziekte door alfa-1-antitrypsine-Pittsburgh-mutatie (aandoening) | | hemorragische ziekte door alfa-1-antitrypsine-Pittsburgh-mutatie | | hemorragische ziekte door A1AT-Pittsburgh-variant
| | Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation | | A rare genetic constitutional coagulation factor defect disorder characterized by a bleeding tendency of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous hematomas, hematomas following minor trauma or surgery and in female patients ovarian hematomas after ovulation. |
| | Id | 782909004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D68.8 | | Term | Overige gespecificeerde stollingsstoornissen |
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| SNOMED CT to Orphanet simple map | 178396 |
| SNOMED CT to ICD-10 extended map | | Target | D68.8 | | Rule | TRUE | | Advice | ALWAYS D68.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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