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 |
| 3638519018 | Congenital myopathy with myasthenic-like onset (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3638520012 | Congenital myopathy with myasthenic-like onset | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6670071000146112 | congenitale myopathie met myasthenie-achtige aanvang | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6670081000146114 | congenitale myopathie met myasthenie-achtige aanvang (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6670091000146111 | aangeboren myopathie met myasthenie-achtig begin | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3638521011 | A rare genetic, non-dystrophic myopathy with characteristics of fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital myopathy with myasthenic-like onset (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital myopathy with myasthenic-like onset (disorder) | Is a | Congenital anomaly of skeletal muscle | true | Inferred relationship | Some | ||
| Congenital myopathy with myasthenic-like onset (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Congenital myopathy with myasthenic-like onset (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 1 | |
| Congenital myopathy with myasthenic-like onset (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital myopathy with myasthenic-like onset (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Congenital myopathy with myasthenic-like onset (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Congenital myopathy with myasthenic-like onset (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Congenital myopathy with myasthenic-like onset (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Congenital myopathy with myasthenic-like onset (disorder) | Is a | Hereditary myopathy (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR