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 |
| 3645182013 | Myosclerosis (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3645183015 | Myosclerosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3670041015 | Congenital myosclerosis Lowenthal type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3645181018 | A rare genetic non-dystrophic myopathy characterised by early diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofibre basement membrane and absent collagen VI around most endomysial/perimysial capillaries. There is evidence the disease is caused by homozygous mutation in the COL6A2 gene. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3657273016 | A rare genetic non-dystrophic myopathy characterized by early diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries. There is evidence the disease is caused by homozygous mutation in the COL6A2 gene. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Myosclerosis (disorder) | Is a | Congenital disease (disorder) | true | Inferred relationship | Some | ||
| Myosclerosis (disorder) | Is a | Disorder of skeletal muscle | true | Inferred relationship | Some | ||
| Myosclerosis (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Myosclerosis (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Myosclerosis (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Myosclerosis (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Myosclerosis (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 2 | |
| Myosclerosis (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Myosclerosis (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR