Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4634873019 | Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 4634875014 | Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 4634874013 | A rare genetic neurological disorder with characteristics of infantile to childhood onset of global developmental delay, hypotonia, seizures, growth delay, and intellectual disability. Additional variable features include strabismus, cortical visual impairment, nystagmus, movement disorder (such as dystonia, ataxia, or chorea) or mild dysmorphic features. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome | Is a | Seizure disorder | true | Inferred relationship | Some | ||
| Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome | Is a | Global developmental delay | true | Inferred relationship | Some | ||
| Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome | Finding site | Brain structure | true | Inferred relationship | Some | 1 | |
| Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome | Interprets | Intellectual ability | true | Inferred relationship | Some | 3 | |
| Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 4 | |
| Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR