| spinale spieratrofie met respiratoire insufficiëntie type 1 (aandoening) | | spinale spieratrofie met respiratoire insufficiëntie type 1 | | SMA-RD type 1
spinale spieratrofie met ademnood type 1
autosomaal recessieve distale spinale spieratrofie type 1
SMA met respiratoire distress type 1
| | Spinal muscular atrophy with respiratory distress type 1 | | Severe infantile axonal neuropathy with respiratory failure
Distal hereditary motor neuronopathy type VI
Diaphragmatic spinal muscular atrophy
Distal spinal muscular atrophy type 1
Autosomal recessive distal spinal muscular atrophy 1
Spinal muscular atrophy with respiratory distress
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| | Id | 711483003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 98920 |
| SNOMED CT to ICD-10 extended map | | Target | G12.2 | | Rule | TRUE | | Advice | ALWAYS G12.2 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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