Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3760298019 | Alpha-B crystallin-related late-onset myopathy | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3760299010 | Alpha-B crystallin-related late-onset distal myopathy | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3760300019 | Alpha-B crystallin-related late-onset myopathy (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3760301015 | Late-onset distal crystallinopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3760302010 | A rare genetic disease with characteristics of adult-onset myofibrillar myopathy variably associated with cardiomyopathy and/or posterior pole cataracts. Patients typically present progressive proximal and distal muscle weakness and wasting of lower and upper limbs, often with velopharyngeal involvement including dysphagia, dysphonia and ventilatory insufficiency. Electromyography shows myopathic features and muscle biopsy reveals myofibrillar myopathy changes. Caused by heterozygous mutation in the alpha-B-crystallin gene (CRYAB) on chromosome 11q23. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Alpha-B crystallin-related late-onset myopathy | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Alpha-B crystallin-related late-onset myopathy | Occurrence | Adulthood | true | Inferred relationship | Some | 1 | |
| Alpha-B crystallin-related late-onset myopathy | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Alpha-B crystallin-related late-onset myopathy | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Alpha-B crystallin-related late-onset myopathy | Is a | Myofibrillar myopathy | true | Inferred relationship | Some | ||
| Alpha-B crystallin-related late-onset myopathy | Is a | Chronic disease of musculoskeletal system | true | Inferred relationship | Some | ||
| Alpha-B crystallin-related late-onset myopathy | 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