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.
Has interpretationafwijkend
referentieset met complexe 'mapping' naar ICD-10
AdviceALWAYS D68.8
CorrelationSNOMED CT source code to target map code correlation not specified