X-gebonden hereditaire motorisch-sensibele neuropathie type 1 (aandoening)
X-gebonden hereditaire motorisch-sensibele neuropathie type 1
X-gebonden ziekte van Charcot-Marie-Tooth type 1
X-gebonden hereditaire motorisch-sensorische neuropathie type 1
X-gebonden HMSN type 1
X-gebonden HMSN van demyeliniserend type
X-linked Charcot-Marie-Tooth disease type 1
A rare genetic, peripheral sensorimotor neuropathy with an X-linked dominant inheritance pattern and the childhood-onset (within the first decade in males) of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and central nervous system involvement have also been reported. The disease is caused by hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13.
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermHereditaire motorische en sensorische neuropathie
SNOMED CT to Orphanet simple map101075
SNOMED CT to ICD-10 extended map
AdviceALWAYS G60.0
CorrelationSNOMED CT source code to target map code correlation not specified