Status: current, Defined. Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3447503016 | Familial malignant melanoma of skin (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3447504010 | Familial malignant melanoma of skin | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3447505011 | Familial cutaneous malignant melanoma | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3447506012 | A rare inherited form of cutaneous melanoma with characteristics of development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family. It is thought to account for about 10% of all cases of cutaneous melanoma. Tends to occur earlier than non-familial melanoma. The risk of familial melanoma is closely related to a wide range of genetic alterations in susceptibility genes but also appears to be influenced by phenotypic risk factors, such as pigmentation, freckling and sun reactions. Complex interactions between genetic and environmental factors are therefore thought to underlie the disease. The most common high-penetrance susceptibility gene implicated is CDKN2A, accounting for predisposition in approximately 20% of cases. In some affected families, susceptibility is consistent with autosomal dominant inheritance but in most cases, a polygenic mode of inheritance appears likely. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Familial malignant melanoma of skin | Associated morphology | Malignant melanoma | true | Inferred relationship | Some | 1 | |
| Familial malignant melanoma of skin | Is a | Familial neoplastic disease | true | Inferred relationship | Some | ||
| Familial malignant melanoma of skin | Is a | Malignant melanoma of skin | true | Inferred relationship | Some | ||
| Familial malignant melanoma of skin | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Familial malignant melanoma of skin | Associated morphology | Malignant melanoma - category | false | Inferred relationship | Some | 1 | |
| Familial malignant melanoma of skin | Finding site | Skin structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Neoplasm and/or hamartoma reference set
Problem/Diagnosis reference set
FHIR