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 |
| 5399808012 | Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399809016 | Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterised by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder. | 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 |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR