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 |
| 4695211014 | A type of nemaline myopathy that shows features of typical nemaline myopathy in neonates with a more severe progression. Neonates present with spontaneous anti-gravity movements and active respiratory muscles, but with a progressive generalized weakness which prevents achievement of gross motor milestones or leads to loss of ambulation and/or independent respiration by age 11 years. Children often develop joint contractures. The ACTA1 (1q42.13), NEB (2q22) or TPM3 (1q21.2) genes have been associated with this disease. The transmission pattern of the disease is autosomal recessive or dominant. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4695212019 | A type of nemaline myopathy that shows features of typical nemaline myopathy in neonates with a more severe progression. Neonates present with spontaneous anti-gravity movements and active respiratory muscles, but with a progressive generalised weakness which prevents achievement of gross motor milestones or leads to loss of ambulation and/or independent respiration by age 11 years. Children often develop joint contractures. The ACTA1 (1q42.13), NEB (2q22) or TPM3 (1q21.2) genes have been associated with this disease. The transmission pattern of the disease is autosomal recessive or dominant. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399707013 | Intermediate nemaline myopathy is a type of nemaline myopathy that shows features of typical NM in neonates with a more severe progression. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4695208013 | Intermediate nemaline myopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4695209017 | Intermediate nemaline myopathy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Intermediate nemaline myopathy | Is a | Chronic disease of musculoskeletal system | true | Inferred relationship | Some | ||
| Intermediate nemaline myopathy | Is a | Nemaline myopathy, early onset type | true | Inferred relationship | Some | ||
| Intermediate nemaline myopathy | Is a | Autosomal hereditary disorder | true | Inferred relationship | Some | ||
| Intermediate nemaline myopathy | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Intermediate nemaline myopathy | Clinical course | Progressive | true | Inferred relationship | Some | 2 | |
| Intermediate nemaline myopathy | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Intermediate nemaline myopathy | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Intermediate nemaline myopathy | Is a | Progressive weakness of muscle | 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