|||
hereditaire motorische en sensorische neuropathie type 2B5 (aandoening)
hereditaire motorische en sensorische neuropathie type 2B5
autosomaal recessieve ziekte van Charcot-Marie-Tooth type 2B5
Charcot-Marie-Tooth disease type 2B5
Severe early-onset axonal neuropathy due to NEFL (neurofilament light) deficiency
Autosomal recessive Charcot-Marie-Tooth disease type 2B5
Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency
Severe early-onset axonal neuropathy due to NEFL deficiency
A rare axonal hereditary motor and sensory neuropathy with characteristics of infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.
Id771307003
StatusPrimitive
Clinical courseprogressief
Associated morphologyatrophia
Finding sitestructuur van zenuw
Occurrencezuigelingenperiode
referentieset met complexe 'mapping' naar ICD-10
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0
CorrelationSNOMED CT source code to target map code correlation not specified