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hereditaire motorische en sensorische neuropathie type 4E (aandoening)
hereditaire motorische en sensorische neuropathie type 4E
ziekte van Charcot-Marie-Tooth type 4E
CMT 4E
autosomaal recessieve congenitale hypomyeliniserende neuropathie
HMSN 4E
Charcot-Marie-Tooth disease type 4E
Autosomal recessive congenital hypomyelinating neuropathy
A congenital hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 with characteristics of Dejerine-Sottas syndrome-like phenotype (including hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical Charcot-Marie-Tooth phenotype, for example distal muscle weakness and atrophy, sensory loss, and foot deformity.
Id763135001
StatusPrimitive
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 map99951
SNOMED CT to ICD-10 extended map
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0
CorrelationSNOMED CT source code to target map code correlation not specified