autosomaal recessieve distale motorische neuropathie
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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
A rare neuromuscular disease with characteristics of 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.
Id770430000
StatusPrimitive
Finding sitestructuur van perifeer zenuwstelsel
Finding sitestructuur van zenuw
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 map139547
SNOMED CT to ICD-10 extended map
TargetG12.2
RuleTRUE
AdviceALWAYS G12.2
CorrelationSNOMED CT source code to target map code correlation not specified