| ziekte van von Willebrand type 3 (aandoening) | | ziekte van von Willebrand type 3 | | Hereditary von Willebrand disease type 3 | | von Willebrand disease type III
von Willebrand disease type 3
| | 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. |
| | Id | 128108002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D68.0 | | Term | Ziekte van Willebrand |
|
| SNOMED CT to Orphanet simple map | 166096 |
| SNOMED CT to ICD-10 extended map | | Target | D68.0 | | Rule | TRUE | | Advice | ALWAYS D68.0 | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
