Autosomal dominant hereditary spastic paraplegia
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Autosomal dominant spastic paraplegia type 6 (disorder)
Autosomal dominant spastic paraplegia type 6
Autosomal dominant familial spastic paraplegia type 3
A form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. Caused by mutations in the NIPA1 gene (15q11.2) encoding the magnesium transporter NIPA1.
autosomaal dominante spastische paraplegie type 6
SPG6
Id732949006
StatusPrimitive
Associated morphologyDegenerative abnormality
Finding siteSpinal cord structure
Finding siteLower limb structure
Clinical courseProgressive
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG11.4
RuleTRUE
AdviceALWAYS G11.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified