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ziekte van von Willebrand type 2 (aandoening)
ziekte van von Willebrand type 2
Hereditary von Willebrand disease type 2
von Willebrand disease type 2
A form of von Willebrand disease (VWD) with characteristics of a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (VWF). Depending on the type of functional abnormalities, this form is classified as type 2A, 2B, 2M or 2N. The VWF gene (12p13.3) anomalies that lead to type 2 VWD involve the well-defined functional domains of the VWF protein. Most subtypes of type 2 VWD are transmitted in an autosomal dominant manner except for type 2N and some rare forms of type 2A which are autosomal recessive.
Id128107007
StatusPrimitive
Has interpretationafwijkend
Interpretshemostase
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD68.0
TermZiekte van Willebrand
SNOMED CT to Orphanet simple map166081
SNOMED CT to ICD-10 extended map
TargetD68.0
RuleTRUE
AdviceALWAYS D68.0
CorrelationSNOMED CT source code to target map code correlation not specified
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