hereditaire distale motorische neuropathie type 7 (aandoening) | | hereditaire distale motorische neuropathie type 7 | | distale spinale spieratrofie met stembandverlamming
| | Distal hereditary motor neuropathy type 7 | | Distal spinal muscular atrophy with vocal cord paralysis
| | A rare slowly progressive genetic peripheral neuropathy with characteristics of distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with unilateral or bilateral vocal cord paresis leading to hoarse voice, breathing difficulties and facial weakness. |
| Id | 771081007 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | G12.2 | Term | Ziekte van motorische neuronen |
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SNOMED CT to Orphanet simple map | 139589 |
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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