Code System Concept

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Code System Concept

Code System Concept Code	1281842000
Code System Concept Name	G protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum (disorder)
Code System Preferred Concept Name	G protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	03/01/2024
SDO Date Created	05/31/2023
SDO Date Revised	05/31/2023
Description	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.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5239367014	GNAO1-related developmental delay, seizures, movement disorder spectrum	Active	Synonym	false	false
5239368016	GNAO1-related spectrum	Active	Synonym	false	false
5239372017	G protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	1

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Decreased muscle tone (finding) {398151007 , SNOMED-CT } Developmental delay (disorder) {248290002 , SNOMED-CT } Disorder of brain (disorder) {81308009 , SNOMED-CT } Disorder of skeletal muscle (disorder) {75047002 , SNOMED-CT } Genetic disease (disorder) {782964007 , SNOMED-CT } Poor muscle tone (finding) {398152000 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,