| autosomaal dominante proximale spinale spieratrofie beginnend op kinderleeftijd (aandoening) | | autosomaal dominante proximale spinale spieratrofie beginnend op kinderleeftijd | | SMA-LED
| | Spinal muscular atrophy with lower extremity predominance | | Autosomal dominant childhood-onset proximal spinal muscular atrophy
SMALED - spinal muscular atrophy, lower extremity, dominant
Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy
| | A rare genetic neuromuscular disease characterized by early onset muscular weakness with predominant proximal lower limb involvement. The disorder is static or only mildly progressive. The severity of manifestations ranges from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features. |
| | Id | 772129007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G12.1 | | Term | Overige erfelijke vormen van spinale spieratrofie |
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| SNOMED CT to Orphanet simple map | 363447 |
| SNOMED CT to ICD-10 extended map | | Target | G12.1 | | Rule | TRUE | | Advice | ALWAYS G12.1 | 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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