Autosomal recessive hereditary disorder
von Willebrand disorder
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von Willebrand disease type 3 (disorder)
von Willebrand disease type 3
Hereditary von Willebrand disease type 3
von Willebrand disease type III
A total or near-total absence of Willebrand factor (VWF) in the plasma and cellular compartments leading to a profound deficiency of plasmatic factor VIII (FVIII). It is the most severe form of Von Willebrand disease. Onset usually occurs during the neonatal period or in infancy, but later onset has been reported. The disease is caused by homozygous or compound heterozygous mutations (mainly missense or large mutations) in the VWF gene (12p13.3) that lead to synthesis of a truncated protein or allele silencing. The pattern of inheritance is autosomal recessive.
ziekte van von Willebrand type 3
Id128108002
StatusPrimitive
Has interpretationAbnormal
InterpretsHemostatic function
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetD68.0
RuleTRUE
AdviceALWAYS D68.0
CorrelationSNOMED CT source code to target map code correlation not specified