X-gebonden hereditaire motorisch-sensibele neuropathie type 6 (aandoening)
X-gebonden hereditaire motorisch-sensibele neuropathie type 6
X-gebonden HMSN type 6
X-gebonden hereditaire motorisch-sensorische neuropathie type 6
X-linked Charcot-Marie-Tooth disease type 6
A rare genetic principally axonal peripheral sensorimotor neuropathy with an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, pan modal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles).
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 map352675
SNOMED CT to ICD-10 extended map
AdviceALWAYS G60.0
CorrelationSNOMED CT source code to target map code correlation not specified