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Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (disorder)
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
A subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 with the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported.
autosomaal dominante hereditaire motorische en sensorische neuropathie type 2A2
autosomaal dominante CMT 2A2
autosomaal dominante ziekte van Charcot-Marie-Tooth type 2A2
autosomaal dominante HMSN 2A2
Id764850002
StatusPrimitive
Associated morphologyAtrophy
Finding siteNerve 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