Autosomal recessive hereditary disorder
Hereditary motor and sensory neuropathy
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Autosomal recessive intermediate Charcot-Marie-Tooth disease type A (disorder)
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
RI-CMT (recessive intermediate Charcot-Marie-Tooth) type A
A subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.
Id773308001
StatusPrimitive
Finding sitePeripheral nervous system structure
OccurrenceEarly childhood
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG60.0
TermHereditaire motorische en sensorische neuropathie
SNOMED CT to ICD-10 extended map
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified