Status: current, Primitive. 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 | Active | Initial character case insensitive | SNOMED CT core |
| 5145809012 | Congenital myopathy with type 2 muscle fibre atrophy | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 5145810019 | Congenital myopathy with type II fiber atrophy | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 5145811015 | Congenital myopathy with reduced type II muscle fibers | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 5145812010 | Congenital myopathy with fast-twitch fiber atrophy | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 5145813017 | Congenital myopathy with fast-twitch fibre atrophy | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 5145814011 | Congenital myopathy with reduced type 2 muscle fibers | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 5145815012 | Congenital myopathy with type II fibre atrophy | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 5145816013 | Congenital myopathy with reduced type 2 muscle fibers (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 5145817016 | Congenital myopathy with reduced type 2 muscle fibres | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 5145818014 | Congenital myopathy with type 2 muscle fiber atrophy | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 5145819018 | 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. Caused by homozygous mutation in the MYL1 gene on chromosome 2q32. | en | Definition | Active | Case sensitive | SNOMED CT core |
| 5145820012 | 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. Caused by homozygous mutation in the MYL1 gene on chromosome 2q32. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital myopathy with reduced type 2 muscle fibres | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Congenital myopathy with reduced type 2 muscle fibres | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Congenital myopathy with reduced type 2 muscle fibres | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital myopathy with reduced type 2 muscle fibres | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital myopathy with reduced type 2 muscle fibres | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Congenital myopathy with reduced type 2 muscle fibres | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
| Congenital myopathy with reduced type 2 muscle fibres | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Congenital myopathy with reduced type 2 muscle fibres | Is a | Myopathy with abnormality of histochemical fibre type | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set
FHIR