Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3728138012 | Polyglucosan body myopathy type 1 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3728139016 | PGBM1 - polyglucosan body myopathy type 1 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3728140019 | Polyglucosan body myopathy type 1 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3727987012 | A rare genetic glycogen storage disorder with characteristics of polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive usually dilated cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and auto-inflammation presenting with recurrent bacterial infections have also been reported. Caused by homozygous or compound heterozygous mutation in the RBCK1 gene on chromosome 20p13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4214341000052113 | polyglukosaninlagringsmyopati, typ 1 | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Polyglucosan body myopathy type 1 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Polyglucosan body myopathy type 1 (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Polyglucosan body myopathy type 1 (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Polyglucosan body myopathy type 1 (disorder) | Is a | Cardiomyopathy | true | Inferred relationship | Some | ||
| Polyglucosan body myopathy type 1 (disorder) | Is a | Glycogen storage disease | true | Inferred relationship | Some | ||
| Polyglucosan body myopathy type 1 (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Polyglucosan body myopathy type 1 (disorder) | Finding site | Myocardium structure | true | Inferred relationship | Some | 2 | |
| Polyglucosan body myopathy type 1 (disorder) | Is a | Metabolic myopathy | true | Inferred relationship | Some | ||
| Polyglucosan body myopathy type 1 (disorder) | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR