Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3318008013 | X-linked myopathy with excessive autophagy (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3318009017 | X-linked myopathy with excessive autophagy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3318010010 | Vacuolar myopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3318011014 | This myopathy is a childhood-onset X-linked myopathy with characteristics of slow progression of muscle weakness and unique histopathological findings. It has been described in about fifteen families The first manifestations appear typically in children around 5-10 years of age and include difficulty climbing stairs and running. Transmission is X-linked recessive; female carriers are asymptomatic or only mildly affected. The Xq28 locus has been associated with the disease. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3920131000052115 | X-bunden myopati med höggradig autofagi | sv | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked myopathy with excessive autophagy (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked myopathy with excessive autophagy (disorder) | Is a | Myopathy with cytoplasmic inclusions | true | Inferred relationship | Some | ||
| X-linked myopathy with excessive autophagy (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| X-linked myopathy with excessive autophagy (disorder) | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 1 | |
| X-linked myopathy with excessive autophagy (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| X-linked myopathy with excessive autophagy (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| X-linked myopathy with excessive autophagy (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| X-linked myopathy with excessive autophagy (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| X-linked myopathy with excessive autophagy (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| X-linked myopathy with excessive autophagy (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR