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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 HMSN 2K
autosomaal recessieve CMT 2K
autosomaal recessieve ziekte van Charcot-Marie-Tooth type 2K
autosomaal recessieve ziekte van Charcot-Marie-Tooth met heesheid
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
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 map101097
SNOMED CT to ICD-10 extended map
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