Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Feb 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5298541010 | Mosaic Legius syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5298542015 | Mosaic neurofibromatosis 1-like syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5298543013 | Mosaic Legius syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5298544019 | Mosaic NF1 (neurofibromatosis 1) like syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5298545018 | A rare mosaic form of Legius syndrome with findings typical of Legius syndrome, namely multiple cafe-au-lait macules (CALMs) with or without axillary or inguinal freckling. Mosaic form is caused by postzygotic pathogenic variants in SPRED1 gene. In mosaic Legius syndrome the allelic/tissue distribution of the pathogenic SPRED1-variant clearly suggests mosaicism and/or the distribution of CALMs is segmental. The phenotype can be milder than in Legius syndrome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Mosaic Legius syndrome (disorder) | Is a | Café au lait spots | true | Inferred relationship | Some | ||
| Mosaic Legius syndrome (disorder) | Is a | Hyperpigmentation of skin | true | Inferred relationship | Some | ||
| Mosaic Legius syndrome (disorder) | Is a | Genetic disorder of skin pigmentation (disorder) | true | Inferred relationship | Some | ||
| Mosaic Legius syndrome (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 1 | |
| Mosaic Legius syndrome (disorder) | Associated morphology | Hyperpigmentation | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR