| syndroom van opticusatrofie, ataxie, perifere neuropathie en algehele ontwikkelingsachterstand (aandoening) | | syndroom van opticusatrofie, ataxie, perifere neuropathie en algehele ontwikkelingsachterstand | | syndroom van atrofie van nervus opticus, ataxie, aandoening van perifere zenuw en globale ontwikkelingsachterstand
| | Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome | | A rare mitochondrial disease with characteristics of a variable clinical phenotype with the core features of optic atrophy, ataxia and hypotonia. Additional common manifestations include global developmental delay with or without regression, neuropathy, spasticity, and microcephaly, less frequently seizures, movement disorder, hearing loss and respiratory failure. Brain imaging may show abnormalities of the corpus callosum, basal ganglia and midbrain, cerebral or cerebellar atrophy, or white matter abnormalities. The condition is frequently fatal at an early age. |
| | Id | 1222655009 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 543470 |
| SNOMED CT to ICD-10 extended map | | Target | E88.8 | | Rule | TRUE | | Advice | ALWAYS E88.8 | 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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