Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3447504010 | Familial malignant melanoma of skin | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3447505011 | Familial cutaneous malignant melanoma | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6474721000146117 | familiaal maligne huidmelanoom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6474731000146115 | familiair melanoma maligna cutis | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7192421000146114 | familiair maligne melanoom van huid | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 12531521000146116 | familiair melanoom van huid (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 12541931000146112 | familiair melanoom van huid | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Familial malignant melanoma of skin (disorder) | Is a | Familial neoplastic disease | true | Inferred relationship | Some | ||
| Familial malignant melanoma of skin (disorder) | Is a | Malignant melanoma of skin | true | Inferred relationship | Some | ||
| Familial malignant melanoma of skin (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Familial malignant melanoma of skin (disorder) | Associated morphology | melanoom - categorie (afwijkende morfologie) | false | Inferred relationship | Some | 1 | |
| Familial malignant melanoma of skin (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 1 | |
| Familial malignant melanoma of skin (disorder) | Associated morphology | Malignant melanoma | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR