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 |
768211000241112 | myopathie métabolique par défaut de transport du lactate (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
878701000172116 | myopathie métabolique par défaut de transport du lactate | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
908441000172114 | anomalie du transporteur de lactate de l'érythrocyte | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation 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 | est un(e) (attribut) | myopathie d'origine métabolique (trouble) | true | Inferred relationship | Some | ||
Metabolic myopathy due to lactate transporter defect | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Metabolic myopathy due to lactate transporter defect | localisation d'une constatation (attribut) | structure de muscle squelettique | true | Inferred relationship | Some | 1 | |
Metabolic myopathy due to lactate transporter defect | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Metabolic myopathy due to lactate transporter defect | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Metabolic myopathy due to lactate transporter defect | est un(e) (attribut) | Congenital disease | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets