| 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
| | Disease with characteristics of muscle weakness and atrophy in the lower limbs, most severely affecting the quadriceps. The loss of motor neurons leads to atrophy of the muscles in the lower limbs with manifestations including unsteady walk and walking on the balls of the feet. Some also have weakness in upper limb muscles. Contractures of the hips, knees, feet, and ankles may occur and in severe cases may be present from birth. Muscle problems are apparent in infancy or early childhood however about one-quarter of affected individuals do not develop muscle weakness until adulthood. Caused by mutations in the DYNC1H1 gene or BICD2 gene. |
| | 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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