Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5069342019 | Distal hereditary motor neuropathy type 2 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5069343012 | Autosomal dominant distal spinal muscular atrophy type 2 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5069344018 | Distal hereditary motor neuropathy type 2 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5400155010 | A rare autosomal dominant distal hereditary motor neuropathy characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400156011 | A rare autosomal dominant distal hereditary motor neuropathy characterised by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Distal hereditary motor neuropathy type 2 (disorder) | Is a | Autosomal dominant distal hereditary motor neuropathy (disorder) | true | Inferred relationship | Some | ||
| Distal hereditary motor neuropathy type 2 (disorder) | Is a | Chronic nervous system disorder (disorder) | true | Inferred relationship | Some | ||
| Distal hereditary motor neuropathy type 2 (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 1 | |
| Distal hereditary motor neuropathy type 2 (disorder) | Finding site | Nerve structure | true | Inferred relationship | Some | 2 | |
| Distal hereditary motor neuropathy type 2 (disorder) | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR