Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5156368012 | Hereditary von Willebrand disease | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5156369016 | Hereditary von Willebrand disease (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 14011331000146110 | erfelijke ziekte van von Willebrand | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 14011341000146119 | hereditaire ziekte van von Willebrand (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 14011351000146116 | hereditaire ziekte van von Willebrand | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 5156371016 | 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hereditary von Willebrand disease | Is a | von Willebrand disorder | true | Inferred relationship | Some | ||
| Hereditary von Willebrand disease | Is a | Autosomal hereditary disorder | true | Inferred relationship | Some | ||
| Hereditary von Willebrand disease | Interprets | Hemostatic function | true | Inferred relationship | Some | 1 | |
| Hereditary von Willebrand disease | Has interpretation | Abnormal | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Hereditary von Willebrand disease type 1 | Is a | True | Hereditary von Willebrand disease | Inferred relationship | Some | |
| Hereditary von Willebrand disease type 2 | Is a | True | Hereditary von Willebrand disease | Inferred relationship | Some | |
| Hereditary von Willebrand disease type 3 | Is a | True | Hereditary von Willebrand disease | Inferred relationship | Some |
This concept is not in any reference sets
FHIR