Autosomal dominant hereditary spastic paraplegia
Complicated hereditary spastic paraplegia
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Autosomal dominant spastic paraplegia type 9A (disorder)
Autosomal dominant spastic paraplegia type 9A
Cataracts, motor neuropathy, short stature, skeletal anomalies syndrome
Spastic paraparesis, amyotrophy, cataracts, gastroesophageal reflux syndrome
A rare complex hereditary spastic paraplegia characterized by juvenile to adult onset of slowly progressive spasticity mainly affecting the lower limbs, associated with spastic dysarthria and motor neuropathy. Additional manifestations include congenital bilateral cataract, gastroesophageal reflux, persistent vomiting, mild cerebellar signs, pes cavus and occasionally short stature among others.
autosomaal dominante spastische paraparese type 9A
AD-SPG9A
SPG9A
syndroom van cataract, motorische neuropathie, kleine gestalte en skeletafwijking
autosomaal dominante spastische paraplegie type 9A
syndroom van spastische paraparese, amyotrofie, cataract en gastro-oesofageale reflux
Id1187465008
StatusPrimitive
Clinical courseProgressive
Finding siteLower limb structure
Associated morphologyDegenerative abnormality
Finding siteSpinal cord structure
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