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Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder)
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.
MT-ATP6-gerelateerde mitochondriale spastische paraplegie
Id778048001
StatusPrimitive
Clinical courseProgressive
Associated morphologyDegenerative abnormality
Finding siteSpinal cord structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG11.4
RuleTRUE
AdviceALWAYS G11.4
CorrelationSNOMED CT source code to target map code correlation not specified