MT-ATP6-gerelateerde mitochondriale spastische paraplegie (aandoening)
MT-ATP6-gerelateerde mitochondriale spastische paraplegie
MT-ATP6-related mitochondrial spastic paraplegia
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia
Maternally-inherited spastic paraplegia
A rare genetic complex hereditary spastic paraplegia disorder with characteristics of adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.
Clinical courseprogressief
Has interpretationafwezig
InterpretsMovement observable
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermHereditaire spastische paraplegie
SNOMED CT to Orphanet simple map320360
SNOMED CT to ICD-10 extended map
AdviceALWAYS G11.4
CorrelationSNOMED CT source code to target map code correlation not specified