Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3326812012 | Rombo syndrome (disorder) | en | Fully specified name | Active | Case sensitive | SNOMED CT core |
3326813019 | Rombo syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3326814013 | Rombo syndrome has characteristics of vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, and peripheral vasodilation with cyanosis and basal cell carcinomas. It has been described in four generations of one family and in two additional sporadic cases. The skin lesions become visible between 7 and 10 years of age and are most pronounced on the face. Basal cell carcinomas are frequent and develop at around 35 years of age. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Rombo syndrome | Associated morphology | Growth alteration | true | Inferred relationship | Some | 1 | |
Rombo syndrome | Finding site | Hair structure | true | Inferred relationship | Some | 1 | |
Rombo syndrome | Is a | Atrophic condition of skin | true | Inferred relationship | Some | ||
Rombo syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Rombo syndrome | Is a | Hypotrichosis | true | Inferred relationship | Some | ||
Rombo syndrome | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Rombo syndrome | Is a | Atrophoderma | false | Inferred relationship | Some | ||
Rombo syndrome | Is a | Hereditary neoplastic syndrome | true | Inferred relationship | Some | ||
Rombo syndrome | Finding site | Hair structure | false | Inferred relationship | Some | ||
Rombo syndrome | Associated morphology | Atrophy | true | Inferred relationship | Some | 2 | |
Rombo 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