Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3662367011 | Metabolic myopathy due to lactate transporter defect | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3662368018 | Metabolic myopathy due to lactate transporter defect (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3662369014 | Erythrocyte lactate transporter defect | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6363351000146113 | metabole myopathie door lactaattransporterdefect | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6363361000146111 | erytrocyt-lactaattransporterdefect | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6363371000146117 | metabole myopathie door lactaattransporterdefect (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3662370010 | A rare metabolic myopathy with characteristics of muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria and elevation of serum creatine kinase. Caused by mutation in the SLC16A1 gene. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Metabolic myopathy due to lactate transporter defect | Is a | Metabolic myopathy | true | Inferred relationship | Some | ||
| Metabolic myopathy due to lactate transporter defect | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Metabolic myopathy due to lactate transporter defect | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Metabolic myopathy due to lactate transporter defect | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Metabolic myopathy due to lactate transporter defect | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Metabolic myopathy due to lactate transporter defect | Is a | Congenital disease (disorder) | false | Inferred relationship | Some | ||
| Metabolic myopathy due to lactate transporter defect | Is a | Congenital myopathy (disorder) | true | Inferred relationship | Some | ||
| Metabolic myopathy due to lactate transporter defect | Is a | Hereditary myopathy (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR