Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5145808016 | Congenital myopathy with reduced type II muscle fibres | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5145809012 | Congenital myopathy with type 2 muscle fibre atrophy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5145810019 | Congenital myopathy with type II fiber atrophy | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5145811015 | Congenital myopathy with reduced type II muscle fibers | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5145812010 | Congenital myopathy with fast-twitch fiber atrophy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5145813017 | Congenital myopathy with fast-twitch fibre atrophy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5145814011 | Congenital myopathy with reduced type 2 muscle fibers | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5145815012 | Congenital myopathy with type II fibre atrophy | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5145816013 | Congenital myopathy with reduced type 2 muscle fibers (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5145817016 | Congenital myopathy with reduced type 2 muscle fibres | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5145818014 | Congenital myopathy with type 2 muscle fiber atrophy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5400370019 | A rare congenital myopathy characterized by neonatal onset of severe muscle weakness with selective atrophy/hypotrophy or absence of type II myofibers. Patients present at birth with hypotonia and respiratory failure, as well as mild facial and severe axial and proximal upper and lower limb weakness with areflexia and mild contractures. Eye movements and cardiac function are normal. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400371015 | A rare congenital myopathy characterised by neonatal onset of severe muscle weakness with selective atrophy/hypotrophy or absence of type II myofibres. Patients present at birth with hypotonia and respiratory failure, as well as mild facial and severe axial and proximal upper and lower limb weakness with areflexia and mild contractures. Eye movements and cardiac function are normal. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital myopathy with reduced type 2 muscle fibers | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Congenital myopathy with reduced type 2 muscle fibers | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Congenital myopathy with reduced type 2 muscle fibers | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital myopathy with reduced type 2 muscle fibers | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital myopathy with reduced type 2 muscle fibers | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Congenital myopathy with reduced type 2 muscle fibers | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Congenital myopathy with reduced type 2 muscle fibers | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Congenital myopathy with reduced type 2 muscle fibers | Is a | Myopathy with abnormality of histochemical fibre type | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR