Autosomal recessive hereditary disorder
Congenital disease
Hereditary coagulation factor deficiency
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Congenital plasminogen activator inhibitor deficiency type 1 (disorder)
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.
congenitale plasminogeenactivator-inhibitor type 1-deficiëntie
aangeboren PAI-1-deficiëntie
Id717407006
StatusPrimitive
OccurrenceCongenital
Has interpretationAbnormal
InterpretsHemostatic function
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetD68.8
RuleTRUE
AdviceALWAYS D68.8
CorrelationSNOMED CT source code to target map code correlation not specified