| congenitale plasminogeenactivator-inhibitor type 1-deficiëntie (aandoening) | | congenitale plasminogeenactivator-inhibitor type 1-deficiëntie | | aangeboren PAI-1-deficiëntie
| | Congenital plasminogen activator inhibitor deficiency type 1 | | Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency. Both partial and total PAI-1 deficiencies are extremely rare disorders. PAI-1 is the physiological inhibitor of tissue-type plasminogen activator (t-PA), the main source of intravascular fibrinolysis. Affected patients carry one (heterozygote) or two (homozygote) alleles with a mutation in the SERPINE1 gene (7q22.1), resulting in partial or total antigenic PAI-1 deficiency. Transmitted as autosomal recessive traits. |
| | Id | 717407006 | | 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 | 465 |
| 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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