Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3662542012 | X-linked distal spinal muscular atrophy type 3 (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3662543019 | X-linked distal hereditary motor neuropathy type 3 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3662544013 | X-linked distal spinal muscular atrophy type 3 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3662545014 | ATP7A (ATPase copper transporting alpha) related distal motor neuropathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3662546010 | A rare distal hereditary motor neuropathy with characteristics of slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked distal spinal muscular atrophy type 3 (disorder) | Is a | Distal spinal muscular atrophy | true | Inferred relationship | Some | ||
| X-linked distal spinal muscular atrophy type 3 (disorder) | Finding site | Structure of nervous system (body structure) | false | Inferred relationship | Some | 1 | |
| X-linked distal spinal muscular atrophy type 3 (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked distal spinal muscular atrophy type 3 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| X-linked distal spinal muscular atrophy type 3 (disorder) | Is a | Congenital disease (disorder) | false | Inferred relationship | Some | ||
| X-linked distal spinal muscular atrophy type 3 (disorder) | Finding site | Structure of nervous system (body structure) | false | Inferred relationship | Some | 1 | |
| X-linked distal spinal muscular atrophy type 3 (disorder) | Finding site | Nerve structure | true | Inferred relationship | Some | 2 | |
| X-linked distal spinal muscular atrophy type 3 (disorder) | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 1 | |
| X-linked distal spinal muscular atrophy type 3 (disorder) | Is a | X-linked distal hereditary motor neuropathy | true | Inferred relationship | Some | ||
| X-linked distal spinal muscular atrophy type 3 (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR