autosomaal recessieve distale spinale spieratrofie type 3 (aandoening) | | autosomaal recessieve distale spinale spieratrofie type 3 | | distale spinale spieratrofie type 3
| | Autosomal recessive distal spinal muscular atrophy type 3 | | Distal spinal muscular atrophy type 3
| | Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction. |
| Id | 770430000 | 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 | 139547 |
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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