Status: current, Primitive. 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 | Case insensitive | SNOMED CT core |
| 3728139016 | PGBM1 - polyglucosan body myopathy type 1 | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3728140019 | Polyglucosan body myopathy type 1 | en | Synonym | Active | Case insensitive | 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 | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Polyglucosan body myopathy type 1 | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Polyglucosan body myopathy type 1 | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Polyglucosan body myopathy type 1 | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Polyglucosan body myopathy type 1 | Is a | Cardiomyopathy | true | Inferred relationship | Some | ||
| Polyglucosan body myopathy type 1 | Is a | Glycogen storage disease | true | Inferred relationship | Some | ||
| Polyglucosan body myopathy type 1 | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Polyglucosan body myopathy type 1 | Finding site | Myocardium structure | true | Inferred relationship | Some | 2 | |
| Polyglucosan body myopathy type 1 | Is a | Metabolic myopathy | true | Inferred relationship | Some | ||
| Polyglucosan body myopathy type 1 | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Musculoskeletal finding reference set
Cardiovascular finding reference set
Problem/Diagnosis reference set
FHIR