Autosomal dominant hereditary disorder
Hereditary motor and sensory neuropathy
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Autosomal dominant intermediate Charcot-Marie-Tooth disease type F (disorder)
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
A rare hereditary motor and sensory neuropathy disorder with characteristics of the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range. Caused by heterozygous mutation in the GNB4 gene on chromosome 3q26.
autosomaal dominante intermediaire hereditaire motorische en sensorische neuropathie type F
DI-HMSN F
DI-CMT F
autosomaal dominante intermediaire ziekte van Charcot-Marie-Tooth type F
Id770759001
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