| spectrum van 'G protein subunit alpha o1'-gerelateerde ontwikkelingsachterstand, aanvallen en bewegingsstoornis (aandoening) | | spectrum van 'G protein subunit alpha o1'-gerelateerde ontwikkelingsachterstand, aanvallen en bewegingsstoornis | | spectrum van GNAO1-gerelateerde ontwikkelingsachterstand, aanvallen en bewegingsstoornis
| | GNAO1-related developmental delay, seizures, movement disorder spectrum | | G protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum
GNAO1-related spectrum
| | A rare genetic neurological disorder characterized by a phenotypic spectrum of mild to severe developmental delay and hypotonia, variably associated with intellectual disability, early-onset seizures, and movement disorders, such as dystonia, ataxia, chorea, and dyskinesia. Brain imaging may show delayed myelination, thin corpus callosum, or cerebral atrophy. |
| | Id | 1281842000 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 592564 |
| SNOMED CT to ICD-10 extended map | | Target | G93.4 | | Rule | TRUE | | Advice | ALWAYS G93.4 | 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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