Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3703311018 | Melanogenesis associated transcription factor related melanoma and renal cell carcinoma predisposition syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3703312013 | MITF-related melanoma and renal cell carcinoma predisposition syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3703313015 | MITF (melanogenesis associated transcription factor) related melanoma and renal cell carcinoma predisposition syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3703314014 | Melanogenesis associated transcription factor related melanoma and renal cell carcinoma predisposition syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6524461000146113 | MITF-gerelateerd melanoom en niercelcarcinoom-predispositiesyndroom (aandoening) | nl | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6524471000146119 | MITF-gerelateerd melanoom en niercelcarcinoom-predispositiesyndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6524481000146117 | 'melanocyte inducing transcription factor'-gerelateerd melanoom en niercelcarcinoom-predispositiesyndroom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6524491000146115 | 'melanogenesis associated transcription factor'-gerelateerd melanoom en niercelcarcinoom-predispositiesyndroom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6524501000146113 | 'microphthalmia-associated transcription factor'-gerelateerd melanoom en niercelcarcinoom-predispositiesyndroom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3703315010 | An inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF (melanogenesis associated transcription factor) gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3777378014 | An inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF (melanogenesis associated transcription factor) gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in naevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Melanogenesis associated transcription factor related melanoma and renal cell carcinoma predisposition syndrome (disorder) | Is a | Hereditary cancer-predisposing syndrome | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR