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syndroom van hereditaire motorische en sensorische neuropathie, doofheid en verstandelijke beperking (aandoening)
syndroom van hereditaire motorische en sensorische neuropathie, doofheid en verstandelijke beperking
syndroom van hereditaire motorische en sensorische neuropathie, doofheid en mentale retardatie
syndroom van ziekte van Charcot-Marie-Tooth, doofheid en mentale retardatie
syndroom van CMT, doofheid en mentale retardatie
syndroom van HMSN, doofheid en verstandelijke handicap
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers
A rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease.
Id763136000
StatusPrimitive
Interpretsgehoorfunctie
Finding sitestructuur van auris
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH90.5
RuleTRUE
AdviceALWAYS H90.5
CorrelationSNOMED CT source code to target map code correlation not specified
TargetF79.9
RuleTRUE
AdviceALWAYS F79.9
CorrelationSNOMED CT source code to target map code correlation not specified