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 |
| 5309364019 | MNF1 - mosaic neurofibromatosis type 1 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5309365018 | Mosaic neurofibromatosis type 1 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5309366017 | Mosaic neurofibromatosis type 1 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5309367014 | A rare mosaic form of neurofibromatosis type 1 (NF1) characterised by findings typical of NF1, namely multiple cafe-au-lait macules (CALMs), cutaneous neurofibromas, skinfold freckling/lentiginous macules, iris Lisch nodules and tumours of the nervous system. Mosaic form is caused by postzygotic pathogenic variants in NF1-gene. In mosaic NF1 the allelic/tissue distribution of the pathogenic NF1-variant clearly suggests mosaicism and/or the distribution of CALMs and cutaneous neurofibromas is segmental. The phenotype can be milder than in NF1. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5309368016 | A rare mosaic form of neurofibromatosis type 1 (NF1) characterized by findings typical of NF1, namely multiple cafe-au-lait macules (CALMs), cutaneous neurofibromas, skinfold freckling/lentiginous macules, iris Lisch nodules and tumors of the nervous system. Mosaic form is caused by postzygotic pathogenic variants in NF1-gene. In mosaic NF1 the allelic/tissue distribution of the pathogenic NF1-variant clearly suggests mosaicism and/or the distribution of CALMs and cutaneous neurofibromas is segmental. The phenotype can be milder than in NF1. | 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 1 | Is a | Neurofibromatosis type 1 | true | Inferred relationship | Some | ||
| Mosaic neurofibromatosis type 1 | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Mosaic neurofibromatosis type 1 | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 1 | |
| Mosaic neurofibromatosis type 1 | Associated morphology | Neurofibromatosis | true | Inferred relationship | Some | 1 | |
| Mosaic neurofibromatosis type 1 | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Mosaic neurofibromatosis type 1 | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
| Mosaic neurofibromatosis type 1 | Associated morphology | Neurofibromatosis | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR