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autosomaal recessieve hereditaire motorische en sensorische neuropathie type 2K (aandoening)
autosomaal recessieve hereditaire motorische en sensorische neuropathie type 2K
autosomaal recessieve ziekte van Charcot-Marie-Tooth type 2K
autosomaal recessieve ziekte van Charcot-Marie-Tooth met heesheid
autosomaal recessieve HMSN 2K
autosomaal recessieve CMT 2K
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
A severe early-onset form of axonal Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy. Onset occurs in the neonatal period or early infancy with a clinical picture including hypotonia, scoliosis, a hoarse voice, vocal cord paralysis and respiratory insufficiency. However, nerve conduction velocities and pathological findings from sural nerve biopsies are indicative of a predominantly axonal neuropathy with some demyelinating features. Caused by mutations in the GDAP1 gene (8q13.3), encoding a protein required for mitochondrial fission.
Id725047007
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van zenuw
referentieset met complexe 'mapping' naar ICD-10
TargetG60.0
RuleTRUE
AdviceALWAYS G60.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified