Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4695180013 | Typical nemaline myopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4695181012 | Typical nemaline myopathy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4695182017 | A moderate neonatal form of nemaline myopathy with characteristics of facial and skeletal muscle weakness and mild respiratory involvement. Disease onset is in the neonatal period. Patients have a long face, a high-arched palate and a tented upper lip. Skeletal anomalies may include kyphoscoliosis, pectus carinatum and pes cavus. In the first year of life, hypotonia and facial weakness are present and often contribute to failure to thrive and delayed motor development. Anti-gravity movements are present and respiratory muscle involvement is frequent. Nocturnal hypoxia and hypercarbia and lower respiratory tract infections are common manifestations. Joint hypermobility can be observed. In a minority of children weakness is more distal. Progression is very slow or absent and most patients are able to live an independent active life. The disease is caused by mutations of the ACTA1 (1q42.13), NEB (2q22) or TPM2 (9p13) genes, and disease transmission can be autosomal recessive or dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Typical nemaline myopathy | Is a | Nemaline myopathy, early onset type | true | Inferred relationship | Some | ||
| Typical nemaline myopathy | Is a | Autosomal hereditary disorder | true | Inferred relationship | Some | ||
| Typical nemaline myopathy | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Typical nemaline myopathy | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Typical nemaline myopathy | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR