| vroeg optredend syndroom van myopathie, areflexie, respiratoire distress en dysfagie (aandoening) | | vroeg optredend syndroom van myopathie, areflexie, respiratoire distress en dysfagie | | EMARDD-syndroom
vroeg optredend syndroom van myopathie, areflexie, ademnood en slikstoornis
vroeg optredend syndroom van myopathie, areflexie, 'respiratory distress' en dysfagie
| | Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome | | EMARDD (early-onset myopathy, areflexia, respiratory distress, dysphagia) syndrome
| | 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. |
| | Id | 1236844002 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 439212 |
| SNOMED CT to ICD-10 extended map | | Target | G71.2 | | Rule | TRUE | | Advice | ALWAYS G71.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
