Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3311396016 | Autosomal recessive limb girdle muscular dystrophy type 2I (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3311397013 | Autosomal recessive limb girdle muscular dystrophy type 2I | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3311398015 | Limb girdle muscular dystrophy due to deficiency of fukutin related protein | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5401697010 | A form of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement, and myoglobinuria and/or elevated creatine kinase serum levels. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401698017 | A form of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterised by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement, and myoglobinuria and/or elevated creatine kinase serum levels. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive limb girdle muscular dystrophy type 2I (disorder) | Is a | Autosomal recessive muscular dystrophy with limb girdle distribution | true | Inferred relationship | Some | ||
| Autosomal recessive limb girdle muscular dystrophy type 2I (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
| Autosomal recessive limb girdle muscular dystrophy type 2I (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Autosomal recessive limb girdle muscular dystrophy type 2I (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Autosomal recessive limb girdle muscular dystrophy type 2I (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR