X-gebonden hereditaire motorisch-sensibele neuropathie type 4 (aandoening)
X-gebonden hereditaire motorisch-sensibele neuropathie type 4
X-gebonden hereditaire motorisch-sensorische neuropathie type 4
X-gebonden HMSN type 4
X-gebonden ziekte van Refsum
X-linked Charcot-Marie-Tooth disease type 4
Cowchock syndrome
A rare genetic axonal peripheral sensorimotor neuropathy with an X-linked recessive inheritance pattern and the neonatal to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group) as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype. The disease is caused by mutation in the AIFM1 gene on chromosome Xq26.
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 map101078
SNOMED CT to ICD-10 extended map
AdviceALWAYS G60.0
CorrelationSNOMED CT source code to target map code correlation not specified