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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| G protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum (disorder) | Is a | Developmental delay | true | Inferred relationship | Some | ||
| G protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum (disorder) | Is a | Decreased muscle tone (finding) | true | Inferred relationship | Some | ||
| G protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum (disorder) | Is a | Poor muscle tone (finding) | true | Inferred relationship | Some | ||
| G protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum (disorder) | Is a | Disorder of skeletal muscle | true | Inferred relationship | Some | ||
| G protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum (disorder) | Is a | Genetic disease | true | Inferred relationship | Some | ||
| G protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 3 | |
| G protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum (disorder) | Interprets | Muscle tone | true | Inferred relationship | Some | 2 | |
| G protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 2 | |
| G protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| G protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum (disorder) | Is a | Disorder of brain (disorder) | true | Inferred relationship | Some | ||
| G protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR