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 |
| 3655707019 | Centronuclear myopathy type 4 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3655708012 | Congenital myopathy with internal nuclei and atypical cores (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3655709016 | Congenital myopathy with internal nuclei and atypical cores | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3655710014 | A rare genetic skeletal muscle disease with characteristics of neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital myopathy with internal nuclei and atypical cores (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Congenital myopathy with internal nuclei and atypical cores (disorder) | Is a | Congenital anomaly of skeletal muscle | true | Inferred relationship | Some | ||
| Congenital myopathy with internal nuclei and atypical cores (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Congenital myopathy with internal nuclei and atypical cores (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 1 | |
| Congenital myopathy with internal nuclei and atypical cores (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital myopathy with internal nuclei and atypical cores (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Congenital myopathy with internal nuclei and atypical cores (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Congenital myopathy with internal nuclei and atypical cores (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Congenital myopathy with internal nuclei and atypical cores (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR