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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-HMSN A
RI-CMT A
autosomaal recessieve intermediaire ziekte van Charcot-Marie-Tooth type A
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
RI-CMT type A - autosomal recessive intermediate Charcot-Marie-Tooth disease type A
A subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease with characteristics of severe, early childhood-onset Charcot-Marie-Tooth 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. Caused by homozygous mutation in the GDAP1 gene on chromosome 8q21.
Id773308001
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0
CorrelationSNOMED CT source code to target map code correlation not specified