| autosomaal dominant syndroom van distale axonale motorische neuropathie en myofibrillaire myopathie (aandoening) | | autosomaal dominant syndroom van distale axonale motorische neuropathie en myofibrillaire myopathie | | Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome | | A rare genetic neuromuscular disease with characteristics of length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles. Age of onset is typically in the second to third decade of life. Patients present with slowly progressive muscle weakness and atrophy initially affecting the distal lower limbs and later progressing to involve proximal limbs and also truncal muscles. There is no involvement of respiratory and cardiac muscles. |
| | Id | 1179294000 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 476093 |
| SNOMED CT to ICD-10 extended map | | Target | G60.8 | | Rule | TRUE | | Advice | ALWAYS G60.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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