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G protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum (disorder)
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.
Id1281842000
StatusPrimitive
Has interpretationDecreased
InterpretsMuscle tone
Has interpretationAbnormally low
InterpretsMuscle tone
SNOMED CT to Orphanet simple map
SNOMED CT to ICD-10 extended map
TargetG93.4
RuleTRUE
AdviceALWAYS G93.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified