| autosomaal dominante spastische paraparese type 9A (aandoening) | | autosomaal dominante spastische paraparese type 9A | | 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
AD-SPG9A
| | 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. |
| | Id | 1187465008 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 447753 |
| SNOMED CT to ICD-10 extended map | | Target | G11.4 | | Rule | TRUE | | Advice | ALWAYS G11.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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