Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2024. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5309369012 | Mosaic neurofibromatosis type 2 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5309370013 | Mosaic neurofibromatosis type 2 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5309371012 | MNF2 - mosaic neurofibromatosis type 2 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5309372017 | Mosaic NF2-related schwannomatosis | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5309373010 | A rare mosaic form of NF2-related schwannomatosis characterised by findings typical of NF2-related schwannomatosis, namely development of multiple benign nerve sheath tumours, particularly affecting the vestibular nerve. Mosaic form is caused by postzygotic pathogenic variants in NF2. In mosaic NF2-related schwannomatosis the allelic/tissue distribution of the pathogenic NF2 variant clearly suggests mosaicism. The phenotype can be milder than in NF2-related schwannomatosis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5309374016 | A rare mosaic form of NF2-related schwannomatosis characterized by findings typical of NF2-related schwannomatosis, namely development of multiple benign nerve sheath tumors, particularly affecting the vestibular nerve. Mosaic form is caused by postzygotic pathogenic variants in NF2. In mosaic NF2-related schwannomatosis the allelic/tissue distribution of the pathogenic NF2 variant clearly suggests mosaicism. The phenotype can be milder than in NF2-related 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 2 (disorder) | Is a | Neurofibromatosis type 2 | true | Inferred relationship | Some | ||
| Mosaic neurofibromatosis type 2 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Mosaic neurofibromatosis type 2 (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 2 | |
| Mosaic neurofibromatosis type 2 (disorder) | Associated morphology | Neurofibromatosis | true | Inferred relationship | Some | 2 | |
| Mosaic neurofibromatosis type 2 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Mosaic neurofibromatosis type 2 (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 3 | |
| Mosaic neurofibromatosis type 2 (disorder) | Associated morphology | Neurofibromatosis | true | Inferred relationship | Some | 3 | |
| Mosaic neurofibromatosis type 2 (disorder) | Finding site | Vestibulocochlear nerve structure | true | Inferred relationship | Some | 1 | |
| Mosaic neurofibromatosis type 2 (disorder) | Associated morphology | Schwannoma | 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