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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome | est un(e) (attribut) | Autosomal dominant distal hereditary motor neuropathy (disorder) | true | Inferred relationship | Some | ||
| Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome | est un(e) (attribut) | affection des muscles et des nerfs périphériques combinée (trouble) | true | Inferred relationship | Some | ||
| Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome | est un(e) (attribut) | Myofibrillar myopathy | true | Inferred relationship | Some | ||
| Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome | localisation d'une constatation (attribut) | structure de muscle squelettique | true | Inferred relationship | Some | 1 | |
| Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome | localisation d'une constatation (attribut) | structure d'un nerf | true | Inferred relationship | Some | 2 | |
| Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome | localisation d'une constatation (attribut) | structure du système nerveux périphérique | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR