Autosomal recessive hereditary disorder
Hereditary motor and sensory neuropathy
||
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B (disorder)
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
RI-CMT type B - autosomal recessive intermediate Charcot-Marie-Tooth disease 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.
autosomaal recessieve intermediaire hereditaire motorische en sensorische neuropathie type B
RI-CMT B
RI-HMSN B
autosomaal recessieve intermediaire ziekte van Charcot-Marie-Tooth type B
Id773330000
StatusPrimitive
Finding sitePeripheral nervous system structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0
CorrelationSNOMED CT source code to target map code correlation not specified