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autosomaal dominante hereditaire motorische en sensorische neuropathie type 2A2 (aandoening)
autosomaal dominante hereditaire motorische en sensorische neuropathie type 2A2
autosomaal dominante ziekte van Charcot-Marie-Tooth type 2A2
autosomaal dominante HMSN 2A2
autosomaal dominante CMT 2A2
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.
Id764850002
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van zenuw
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG60.0
TermHereditaire motorische en sensorische neuropathie
SNOMED CT to Orphanet simple map99947
SNOMED CT to ICD-10 extended map
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0
CorrelationSNOMED CT source code to target map code correlation not specified