Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4591491016 | HLRCC - hereditary leiomyomatosis and renal cell cancer | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4591492011 | Familial leiomyomatosis with renal carcinoma | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4591493018 | Hereditary leiomyomatosis with renal carcinoma | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4591496014 | Familial leiomyomatosis and renal cell cancer | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4591503013 | Hereditary leiomyomatosis and renal cell carcinoma (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4591504019 | Hereditary leiomyomatosis and renal cell carcinoma | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4591505018 | Hereditary leiomyomatosis and renal cell cancer | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 13115991000146115 | hereditaire leiomyomatose en niercelcarcinoom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13116001000146116 | erfelijke leiomyomatose en niercarcinoom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13116011000146119 | HLRCC | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13116021000146112 | hereditaire leiomyomatose en niercelcarcinoom (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 4591499019 | A hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. Disease onset can occur at any age, but is more common in young adults and elderly patients. Multiple or single benign cutaneous leiomyomas are common. Uterine leiomyomas (present in 77% of women with HLRCC), also known as fibroids, usually appear around the age of 30. Caused by a mutation in the FH gene (1q42.1) encoding the enzyme fumarate hydratase (FH) that metabolizes the fumarate produced during the purine nucleotide cycle and arginine synthesis in the cytoplasm. Mode of inheritance is autosomal dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4591500011 | A hereditary cancer syndrome characterised by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. Disease onset can occur at any age, but is more common in young adults and elderly patients. Multiple or single benign cutaneous leiomyomas are common. Uterine leiomyomas (present in 77% of women with HLRCC), also known as fibroids, usually appear around the age of 30. Caused by a mutation in the FH gene (1q42.1) encoding the enzyme fumarate hydratase (FH) that metabolises the fumarate produced during the purine nucleotide cycle and arginine synthesis in the cytoplasm. Mode of inheritance is autosomal dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hereditary leiomyomatosis and renal cell carcinoma (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Hereditary leiomyomatosis and renal cell carcinoma (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Hereditary leiomyomatosis and renal cell carcinoma (disorder) | Is a | Hereditary cancer-predisposing syndrome | true | Inferred relationship | Some | ||
| Hereditary leiomyomatosis and renal cell carcinoma (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 1 | |
| Hereditary leiomyomatosis and renal cell carcinoma (disorder) | Is a | Cutaneous leiomyoma | true | Inferred relationship | Some | ||
| Hereditary leiomyomatosis and renal cell carcinoma (disorder) | Associated morphology | Leiomyoma | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Dutch pathology simple reference set (foundation metadata concept)
FHIR