| hereditaire distale motorische neuropathie type 1 (aandoening) | | hereditaire distale motorische neuropathie type 1 | | autosomaal dominante juveniele distale spinale spieratrofie type 1
| | Distal hereditary motor neuropathy type 1 | | Autosomal dominant distal juvenile spinal muscular atrophy type 1
| | Distal hereditary motor neuropathy type 1 is a rare neuromuscular disease characterized by slowly progressive lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone. |
| | Id | 770630005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 139518 |
| SNOMED CT to ICD-10 extended map | | Target | G12.2 | | Rule | TRUE | | Advice | ALWAYS G12.2 | 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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