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congenitale alfa-2-antiplasminedeficiëntie (aandoening)
congenitale alfa-2-antiplasminedeficiëntie
aangeboren alfa-2-antiplasminedeficiëntie
Congenital alpha-2-antiplasmin deficiency
Congenital alpha2-antiplasmin deficiency
A rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes. Inherited in an autosomal recessive manner.
Id716746003
StatusPrimitive
Occurrencecongenitaal
Has interpretationafwijkend
Interpretshemostase
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD68.8
TermOverige gespecificeerde stollingsstoornissen
SNOMED CT to Orphanet simple map79
SNOMED CT to ICD-10 extended map
TargetD68.8
RuleTRUE
AdviceALWAYS D68.8
CorrelationSNOMED CT source code to target map code correlation not specified