Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3705377013 | Congenital muscular dystrophy due to lamin A/C mutation | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3705378015 | Congenital muscular dystrophy due to LMNA (lamin A/C) mutation | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3705379011 | Congenital muscular dystrophy due to lamin A/C mutation (disorder) | en | Fully specified name | Active | Initial character case insensitive | SNOMED CT core |
| 3705380014 | LMNA-related congenital muscular dystrophy | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3705381013 | Congenital muscular dystrophy due to LMNA mutation | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3705382018 | A rare congenital muscular dystrophy with characteristics of prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported. Caused by heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital muscular dystrophy due to LMNA mutation | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Congenital muscular dystrophy due to LMNA mutation | Is a | Congenital hereditary muscular dystrophy | true | Inferred relationship | Some | ||
| Congenital muscular dystrophy due to LMNA mutation | Clinical course | Progressive | true | Inferred relationship | Some | 2 | |
| Congenital muscular dystrophy due to LMNA mutation | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
| Congenital muscular dystrophy due to LMNA mutation | Is a | Congenital muscular dystrophy | false | Inferred relationship | Some | ||
| Congenital muscular dystrophy due to LMNA mutation | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Congenital muscular dystrophy due to LMNA mutation | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital muscular dystrophy due to LMNA mutation | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set
FHIR