1281842000: G protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\GNAO1-related developmental delay, seizures, movement disorder spectrum
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\GNAO1-related developmental delay, seizures, movement disorder spectrum
• \General finding of soft tissue\Poor muscle tone\GNAO1-related developmental delay, seizures, movement disorder spectrum
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\GNAO1-related developmental delay, seizures, movement disorder spectrum
• \Central nervous system finding\Finding of brain\Disorder of brain\GNAO1-related developmental delay, seizures, movement disorder spectrum
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\GNAO1-related developmental delay, seizures, movement disorder spectrum
• \Muscle finding (finding)\Finding of muscle tone (finding)\Poor muscle tone\GNAO1-related developmental delay, seizures, movement disorder spectrum
• \Muscle finding (finding)\Finding of muscle tone (finding)\Decreased muscle tone (finding)\GNAO1-related developmental delay, seizures, movement disorder spectrum
• \Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\GNAO1-related developmental delay, seizures, movement disorder spectrum
• \Musculoskeletal finding (finding)\Poor muscle tone\GNAO1-related developmental delay, seizures, movement disorder spectrum
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\GNAO1-related developmental delay, seizures, movement disorder spectrum
• \Disease\Genetic disease\GNAO1-related developmental delay, seizures, movement disorder spectrum
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\GNAO1-related developmental delay, seizures, movement disorder spectrum
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\GNAO1-related developmental delay, seizures, movement disorder spectrum
• \Disease\Disorder of muscle\Disorder of skeletal muscle\GNAO1-related developmental delay, seizures, movement disorder spectrum
• \Disease\Disorder of head (disorder)\Disorder of brain\GNAO1-related developmental delay, seizures, movement disorder spectrum
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\GNAO1-related developmental delay, seizures, movement disorder spectrum
• \Disease\Developmental disorder (disorder)\Developmental delay\GNAO1-related developmental delay, seizures, movement disorder spectrum

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2023. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5239365018	G protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5239367014	GNAO1-related developmental delay, seizures, movement disorder spectrum	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5239368016	GNAO1-related spectrum	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5239372017	G protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400742019	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400743012	A rare genetic neurological disorder characterised 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5239365018	G protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5239367014	GNAO1-related developmental delay, seizures, movement disorder spectrum	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5239368016	GNAO1-related spectrum	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5239372017	G protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5239371012	A rare genetic neurological disorder with 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400742019	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400743012	A rare genetic neurological disorder characterised 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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