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 |
| 4695184016 | Childhood-onset nemaline myopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4695185015 | Childhood-onset nemaline myopathy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4695189014 | Mild nemaline myopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4695210010 | A type of nemaline myopathy with characteristics of distal muscle weakness and sometimes slowness of muscle contraction. Onset is around 10 years of age, with initial presentation of symmetric weakness of ankle dorsiflexion and foot drop, or a general slowness of muscle contraction. All movements at the ankle and more proximal limb muscles may be disturbed. Weakness is slowly progressive. Facial, respiratory and cardiac muscles are generally normal, but patients are unable to jump or run because of muscle weakness or slowness. This form of nemaline myopathy is caused by mutations in the ACTA1 (1q42.13), NEB (2q22), TPM2 (9p13.3) or TPM3 (1q21.2) genes. Transmission follows an autosomal dominant pattern. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Childhood-onset nemaline myopathy | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Childhood-onset nemaline myopathy | est un(e) (attribut) | Nemaline myopathy | true | Inferred relationship | Some | ||
| Childhood-onset nemaline myopathy | survenue (attribut) | enfance | true | Inferred relationship | Some | 1 | |
| Childhood-onset nemaline myopathy | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Childhood-onset nemaline myopathy | localisation d'une constatation (attribut) | structure de muscle squelettique | true | Inferred relationship | Some | 1 | |
| Childhood-onset nemaline myopathy | est un(e) (attribut) | maladie chronique de l'appareil locomoteur | true | Inferred relationship | Some | ||
| Childhood-onset nemaline myopathy | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR