Autosomal recessive hereditary disorder
Axonal neuropathy
Hereditary disorder of nervous system
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Giant axonal neuropathy (disorder)
Giant axonal neuropathy
Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterized by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.
Id128207002
StatusPrimitive
Finding siteNerve structure
Associated morphologyEnlargement
Finding siteAxon structure
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG60.8
TermOverige gespecificeerde hereditaire en idiopathische neuropathieën
SNOMED CT to ICD-10 extended map
TargetG60.8
RuleTRUE
AdviceALWAYS G60.8
CorrelationSNOMED CT source code to target map code correlation not specified