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autosomaal dominante vertraagde zenuwgeleiding (aandoening)
autosomaal dominante vertraagde zenuwgeleiding
Autosomal dominant slowed nerve conduction velocity
A rare hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.
Id764854006
StatusPrimitive
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map140481
SNOMED CT to ICD-10 extended map
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0
CorrelationSNOMED CT source code to target map code correlation not specified