Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Aug 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5089274018 | Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5089275017 | EMARDD (early-onset myopathy, areflexia, respiratory distress, dysphagia) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5089276016 | Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 13988541000146112 | vroeg optredend syndroom van myopathie, areflexie, respiratoire distress en dysfagie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13988551000146110 | vroeg optredend syndroom van myopathie, areflexie, ademnood en slikstoornis | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13988561000146113 | vroeg optredend syndroom van myopathie, areflexie, 'respiratory distress' en dysfagie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13988571000146119 | vroeg optredend syndroom van myopathie, areflexie, respiratoire distress en dysfagie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13988581000146117 | EMARDD-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 5089278015 | A rare congenital myopathy with characteristics of early onset of severe muscular weakness, respiratory distress due to diaphragmatic paralysis, dysphagia and areflexia, joint contractures and scoliosis. Decreased fetal movements are seen in some individuals. Muscle biopsy may show a combination of dystrophic and myopathic features. The clinical course is variable, with some patients becoming ventilator-dependent and never achieving ambulation. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder) | Is a | Muscle weakness | true | Inferred relationship | Some | ||
| Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder) | Is a | Congenital anomaly of skeletal muscle | true | Inferred relationship | Some | ||
| Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder) | Is a | Hereditary myopathy (disorder) | true | Inferred relationship | Some | ||
| Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder) | Is a | Movement disorder | true | Inferred relationship | Some | ||
| Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder) | Interprets | Movement | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR