Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4963728016 | Multiple café-au-lait syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4963729012 | NF6 - neurofibromatosis type 6 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4963730019 | Neurofibromatosis type 6 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4963731015 | Familial café-au-lait spots | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4963732010 | Neurofibromatosis type 6 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4963733017 | Multiple café-au-lait spots | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5170015015 | Familial CALMs (café-au-lait macules) isolated | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5170016019 | Familial isolated café-au-lait spots | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5170017011 | Familial isolated café-au-lait macules | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4963734011 | A cutaneous disorder with characteristics of the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder. Prevalence is unknown, but the disease appears to be extremely rare. The macules may appear in infancy, but usually they are detected after 2 years of age. Close linkage to the NF1 gene (17q11.2) has been reported in some cases. Transmission 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 |
| Neurofibromatosis type 6 | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Neurofibromatosis type 6 | Is a | Hyperpigmentation of skin | true | Inferred relationship | Some | ||
| Neurofibromatosis type 6 | Is a | Genetic disorder of skin pigmentation (disorder) | true | Inferred relationship | Some | ||
| Neurofibromatosis type 6 | Finding site | Skin structure | true | Inferred relationship | Some | 1 | |
| Neurofibromatosis type 6 | Associated morphology | Hyperpigmentation | true | Inferred relationship | Some | 1 | |
| Neurofibromatosis type 6 | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR