| hereditaire ziekte van von Willebrand (aandoening) | | hereditaire ziekte van von Willebrand | | erfelijke ziekte van von Willebrand
| | Hereditary von Willebrand disease | | A rare inherited bleeding disorder with characteristics of defective platelet adhesion and secondary coagulation defect that manifests as abnormal bleeding of variable severity occurring either spontaneously or in association with an invasive procedure. Three main subtypes are defined based on the type of von Willebrand factor defect: partial (type 1) or total (type 3) deficiency, and qualitative/functional anomalies (type 2). Caused by mutations in the VWF gene (12p13.3) encoding the multimeric VWF protein. Most often transmitted in an autosomal dominant manner, however, the mode of inheritance is autosomal recessive for type 3 VWD and for some of the type 2 subtypes. |
| | Id | 1259242002 | | Status | Defined |
| SNOMED CT to Orphanet simple map | 903 |
| SNOMED CT to ICD-10 extended map | | Target | D68.0 | | Rule | TRUE | | Advice | ALWAYS D68.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
