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autosomaal recessieve intermediaire hereditaire motorische en sensorische neuropathie type A (aandoening)
autosomaal recessieve intermediaire hereditaire motorische en sensorische neuropathie type A
RI-CMT A
autosomaal recessieve intermediaire ziekte van Charcot-Marie-Tooth type A
RI-HMSN A
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
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map217055
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