Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jan 2026. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5518764010 | Mosaic schwannomatosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5518765011 | Mosaic neurilemmomatosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5518766012 | MNF3 - mosaic neurofibromatosis type 3 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5518767015 | Mosaic neurofibromatosis type 3 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5518768013 | Mosaic neurofibromatosis type 3 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5518769017 | A rare mosaic form of schwannomatosis characterized by findings typical of schwannomatosis, namely multiple benign nerve sheath tumors called schwannomas. Mosaic form is caused by postzygotic pathogenic variants in SMARCB1 or LZTR1. In mosaic schwannomatosis the allelic/tissue distribution of the pathogenic variant clearly suggests mosaicism. The phenotype can be milder than in schwannomatosis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5518770016 | A rare mosaic form of schwannomatosis characterised by findings typical of schwannomatosis, namely multiple benign nerve sheath tumours called schwannomas. Mosaic form is caused by postzygotic pathogenic variants in SMARCB1 or LZTR1. In mosaic schwannomatosis the allelic/tissue distribution of the pathogenic variant clearly suggests mosaicism. The phenotype can be milder than in schwannomatosis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Mosaic neurofibromatosis type 3 (disorder) | Is a | Neurofibromatosis syndrome | true | Inferred relationship | Some | ||
| Mosaic neurofibromatosis type 3 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Mosaic neurofibromatosis type 3 (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 1 | |
| Mosaic neurofibromatosis type 3 (disorder) | Associated morphology | Neurofibromatosis | true | Inferred relationship | Some | 1 | |
| Mosaic neurofibromatosis type 3 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Mosaic neurofibromatosis type 3 (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
| Mosaic neurofibromatosis type 3 (disorder) | Associated morphology | Neurofibromatosis | true | Inferred relationship | Some | 2 | |
| Mosaic neurofibromatosis type 3 (disorder) | Is a | Genetic disease | 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