Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3705378015 | Congenital muscular dystrophy due to LMNA (lamin A/C) mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3705379011 | Congenital muscular dystrophy due to lamin A/C mutation (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3705380014 | LMNA-related congenital muscular dystrophy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3705381013 | Congenital muscular dystrophy due to LMNA mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 7590681000172113 | dystrophie musculaire congénitale due à une mutation des lamines A/C | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 5452731000172117 | congenitale spierdystrofie door LMNA-mutatie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 5452741000172112 | LMNA-gerelateerde congenitale spierdystrofie | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital muscular dystrophy due to lamin A/C mutation (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
| Congenital muscular dystrophy due to lamin A/C mutation (disorder) | Is a | Congenital muscular dystrophy | false | Inferred relationship | Some | ||
| Congenital muscular dystrophy due to lamin A/C mutation (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Congenital muscular dystrophy due to lamin A/C mutation (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital muscular dystrophy due to lamin A/C mutation (disorder) | Finding site | Skeletal muscle structure (body structure) | true | Inferred relationship | Some | 1 | |
| Congenital muscular dystrophy due to lamin A/C mutation (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Congenital muscular dystrophy due to lamin A/C mutation (disorder) | Is a | Congenital hereditary muscular dystrophy | true | Inferred relationship | Some | ||
| Congenital muscular dystrophy due to lamin A/C mutation (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR