Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3756544011 | Fatal infantile hypertonic myofibrillar myopathy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3756545012 | Fatal infantile hypertonic myofibrillar myopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3756546013 | A rare genetic skeletal muscle disease with characteristics of muscle stiffness and rigidity, hypertonia, weakness, respiratory distress and normal cognition. Patients have persistently elevated creatine kinase and histopathology is typical of myofibrillar myopathy. The manifestation onset follows the short period of normal infantile development and leads to progressive respiratory insufficiency and early death. There is the disease is caused by homozygous mutation in the CRYAB gene on chromosome 11q23. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4350341000052118 | dödlig infantil hyperton myofibrillär myopati | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Fatal infantile hypertonic myofibrillar myopathy (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Fatal infantile hypertonic myofibrillar myopathy (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Fatal infantile hypertonic myofibrillar myopathy (disorder) | Occurrence | Infancy | true | Inferred relationship | Some | 1 | |
| Fatal infantile hypertonic myofibrillar myopathy (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Fatal infantile hypertonic myofibrillar myopathy (disorder) | Is a | Myofibrillar myopathy | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR