Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2023. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5234326019 | Laminin alpha-2 related limb girdle muscular dystrophy R23 (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5234327011 | Laminin subunit alpha 2-related limb girdle muscular dystrophy R23 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5234329014 | Laminin subunit alpha 2-related LGMD (limb girdle muscular dystrophy) R23 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5234330016 | Laminin subunit alpha 2-related late-onset muscular dystrophy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5234335014 | Laminin alpha-2 related limb girdle muscular dystrophy R23 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5234328018 | A rare autosomal recessive limb girdle muscular dystrophy with characteristics of childhood to adult onset of slowly progressive limb girdle muscular weakness often accompanied by calf hypertrophy and moderately elevated creatine kinase levels. Patients remain ambulatory but may variably present mild intellectual disability, seizures, migraine or cardiopulmonary involvement. Occurrence of dilated cardiomyopathy has been reported. Brain MRI typically shows hyperintensity in T2-weighted sequences. Muscle biopsy commonly reveals dystrophic features. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5896371000052113 | LAMA2-relaterad muskeldystrofi i skulder-bäckengördel, typ R23 | sv | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Laminin alpha-2 related limb girdle muscular dystrophy R23 (disorder) | Is a | Autosomal recessive muscular dystrophy with limb girdle distribution | true | Inferred relationship | Some | ||
| Laminin alpha-2 related limb girdle muscular dystrophy R23 (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 | |
| Laminin alpha-2 related limb girdle muscular dystrophy R23 (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Laminin alpha-2 related limb girdle muscular dystrophy R23 (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
| Laminin alpha-2 related limb girdle muscular dystrophy R23 (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR