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 |
| 3312733011 | Bethlem myopathy (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3312803013 | Bethlem myopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3312804019 | Benign autosomal dominant myopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 752381000241119 | myopathie de Bethlem (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 883831000172116 | myopathie autosomique dominante bénigne | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 887971000172119 | myopathie de Bethlem | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3312805018 | A benign autosomal dominant form of slowly progressive muscular dystrophy. To date, fewer than 100 cases have been reported in the literature, thus illustrating its rarity. The clinical features do not differ markedly from those of other mild forms of progressive muscular dystrophy with the exception of finger contractures that are sometimes suggestive of the diagnosis. Creatine kinase levels and histological findings are not conclusive. Mutations in one of the three subunits of collagen VI are responsible for the disease. Molecular studies are however hampered by the size and expression pattern of the genes. Treatment remains purely supportive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR