Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4635469019 | POGLUT1-related limb girdle muscular dystrophy R21 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4635470018 | Protein O-glucosyltransferase 1-related limb girdle muscular dystrophy R21 (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4635471019 | Limb girdle muscular dystrophy type 2Z | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4635472014 | Protein O-glucosyltransferase 1-related limb girdle muscular dystrophy R21 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4635473016 | Autosomal recessive limb girdle muscular dystrophy type 2Z | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5399406015 | A rare autosomal recessive limb-girdle muscular dystrophy characterized by adult onset of progressive muscle weakness and atrophy in the proximal upper and lower limbs, leading to scapular winging and loss of independent ambulation. Respiratory function may become impaired in the course of the disease. Fatty degeneration of internal regions of thigh muscles sparing external areas has been reported, as well as a reduction of alpha-dystroglycan in muscle biopsies. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399407012 | A rare autosomal recessive limb-girdle muscular dystrophy characterised by adult onset of progressive muscle weakness and atrophy in the proximal upper and lower limbs, leading to scapular winging and loss of independent ambulation. Respiratory function may become impaired in the course of the disease. Fatty degeneration of internal regions of thigh muscles sparing external areas has been reported, as well as a reduction of alpha-dystroglycan in muscle biopsies. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| POGLUT1-related limb girdle muscular dystrophy R21 | Is a | Chronic metabolic disorder | true | Inferred relationship | Some | ||
| POGLUT1-related limb girdle muscular dystrophy R21 | Is a | Carbohydrate-deficient glycoprotein syndrome | true | Inferred relationship | Some | ||
| POGLUT1-related limb girdle muscular dystrophy R21 | Is a | Autosomal recessive muscular dystrophy with limb girdle distribution | true | Inferred relationship | Some | ||
| POGLUT1-related limb girdle muscular dystrophy R21 | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 | |
| POGLUT1-related limb girdle muscular dystrophy R21 | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| POGLUT1-related limb girdle muscular dystrophy R21 | Occurrence | Adulthood | true | Inferred relationship | Some | 1 | |
| POGLUT1-related limb girdle muscular dystrophy R21 | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| POGLUT1-related limb girdle muscular dystrophy R21 | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
| POGLUT1-related limb girdle muscular dystrophy R21 | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
Description inactivation indicator reference set
FHIR