Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 2966549015 | Central core myopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 428781000241112 | myopathie congénitale à "central cores" (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 71981018 | Central core disease | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 780131019 | Central core disease (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 982321000172111 | myopathie congénitale à "central cores" | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 991161000172112 | myopathie congénitale à cores centraux | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 4945364013 | An inherited neuromuscular disorder with characteristics of central cores on muscle biopsy and clinical features of a congenital myopathy. Typical presentation is in infancy with hypotonia and motor developmental delay and predominantly proximal weakness pronounced in the hip girdle. Caused by (predominantly dominant) mutations in the skeletal muscle ryanodine receptor (RYR1) gene, encoding the principal skeletal muscle sarcoplasmic reticulum calcium release channel (RyR1). Altered excitability and/or changes in calcium homeostasis within muscle cells due to mutation-induced conformational changes in the RyR protein are considered to be the main pathogenetic mechanism(s). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Autosomal recessive central core disease | est un(e) (attribut) | True | myopathie congénitale à "central cores" (trouble) | Inferred relationship | Some | |
| Autosomal dominant central core disease (disorder) | est un(e) (attribut) | True | myopathie congénitale à "central cores" (trouble) | Inferred relationship | Some |
This concept is not in any reference sets
FHIR