Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3303243012 | Atypical Werner syndrome (disorder) | en | Fully specified name | Active | Initial character case insensitive | SNOMED CT core |
3303244018 | Atypical Werner syndrome | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
3303245017 | Atypical progeroid syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3303246016 | Refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome but that do not carry WRN gene mutations. Similar to classical Werner Syndrome caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population. Compared to Werner Syndrome, it has an earlier age of onset (early 20s or earlier) and a more rapid rate of progression. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Atypical Werner syndrome | Is a | Laminopathy with premature ageing | true | Inferred relationship | Some | ||
Atypical Werner syndrome | Is a | Premature ageing syndrome | false | Inferred relationship | Some | ||
Atypical Werner syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Atypical Werner syndrome | Finding site | Skin structure | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set