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autosomaal recessieve intermediaire hereditaire motorische en sensorische neuropathie type B (aandoening)
autosomaal recessieve intermediaire hereditaire motorische en sensorische neuropathie type B
RI-HMSN B
autosomaal recessieve intermediaire ziekte van Charcot-Marie-Tooth type B
RI-CMT B
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
RI-CMT (recessive intermediate Charcot-Marie-Tooth) type B
An extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.
Id773330000
StatusPrimitive
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG60.0
TermHereditaire motorische en sensorische neuropathie
SNOMED CT to Orphanet simple map254334
SNOMED CT to ICD-10 extended map
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0
CorrelationSNOMED CT source code to target map code correlation not specified