autosomaal recessieve distale motorische neuropathie
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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
Id711483003
StatusPrimitive
Finding sitestructuur van zenuw
Finding sitestructuur van perifeer zenuwstelsel
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG12.2
TermZiekte van motorische neuronen
SNOMED CT to Orphanet simple map98920
SNOMED CT to ICD-10 extended map
TargetG12.2
RuleTRUE
AdviceALWAYS G12.2
CorrelationSNOMED CT source code to target map code correlation not specified