familiaire myoklonie uitgaande van cortex cerebri (aandoening)
familiaire myoklonie uitgaande van cortex cerebri
familiale myoclonus uitgaande van hersenschors
Familial cortical myoclonus
Familial myoclonus of cerebral cortex
A rare genetic movement disorder with characteristics of autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent. The disease is caused by heterozygous mutation in the NOL3 gene on chromosome 16q22.
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
SNOMED CT to Orphanet simple map319189
SNOMED CT to ICD-10 extended map
AdviceALWAYS G25.3
CorrelationSNOMED CT source code to target map code correlation not specified