Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4650583011 | Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4650584017 | Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4650585016 | A rare genetic neuromuscular disease with characteristics of length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles. Age of onset is typically in the second to third decade of life. Patients present with slowly progressive muscle weakness and atrophy initially affecting the distal lower limbs and later progressing to involve proximal limbs and also truncal muscles. There is no involvement of respiratory and cardiac muscles. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 10046391000172116 | syndrome autosomique dominant de neuropathie motrice axonale distale et de myopathie myofibrillaire | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 7340251000172114 | autosomaal dominant syndroom van distale axonale motorische neuropathie en myofibrillaire myopathie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome | Is a | Autosomal dominant distal hereditary motor neuropathy (disorder) | true | Inferred relationship | Some | ||
| Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome | Is a | Combined disorder of muscle AND peripheral nerve (disorder) | true | Inferred relationship | Some | ||
| Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome | Is a | Myofibrillar myopathy | true | Inferred relationship | Some | ||
| Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome | Finding site | Skeletal muscle structure (body structure) | true | Inferred relationship | Some | 1 | |
| Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome | Finding site | Nerve structure | true | Inferred relationship | Some | 2 | |
| Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR