| syndroom van vroeg optredende progressieve encefalopathie, spastische ataxie en distale spinale spieratrofie (aandoening) | | syndroom van vroeg optredende progressieve encefalopathie, spastische ataxie en distale spinale spieratrofie | | Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome | | A rare genetic neurodegenerative disease with characteristics of neonatal to infantile onset of hypotonia, developmental delay, regression of motor skills with distal amyotrophy, ataxia, and spasticity, absent speech or dysarthria, and moderate to severe cognitive impairment. Optic atrophy may also be associated. Brain imaging shows cerebellar atrophy and thin corpus callosum, as well as brain iron accumulation in the pallidum and substantia nigra beginning during the second decade of life. |
| | Id | 1172588008 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 496756 |
| SNOMED CT to ICD-10 extended map | | Target | G31.8 | | Rule | TRUE | | Advice | ALWAYS G31.8 | 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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