| syndroom van kyfoscoliose, laterale atrofie van tong en hereditaire spastische paraparese (aandoening) | | syndroom van kyfoscoliose, laterale atrofie van tong en hereditaire spastische paraparese | | syndroom van kyfoscoliose, laterale atrofie van tong en hereditaire spastische paraplegie
syndroom van kyfoscoliose, laterale tongatrofie en erfelijke spastische paraplegie
syndroom van kyfoscoliose, laterale tongatrofie en HSP
| | Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | | A rare complex hereditary spastic paraplegia with characteristics of neonatal to infantile onset of progressive spasticity in the lower limbs, hyperreflexia, tip-toe walking, pes equinus, and delayed motor developmental milestones. Kyphoscoliosis becomes evident in older patients, and most patients show atrophy of the lateral aspects of the tongue. Additional signs may include intellectual disability, language impairment, and moderate upper limb involvement. |
| | Id | 1172590009 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 496689 |
| 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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