Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4634848019 | Early-onset epilepsy, intellectual disability, brain anomalies syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 4634849010 | Congenital disorder of glycosylation due to PIGG (phosphatidylinositol glycan anchor biosynthesis class G) deficiency | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 4634850010 | PIGG-CDG - congenital disorder of glycosylation due to PIGG deficiency | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 4634851014 | Congenital disorder of glycosylation due to phosphatidylinositol glycan anchor biosynthesis class G deficiency | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 4634852019 | Early-onset epilepsy, intellectual disability, brain anomalies syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 4634853012 | A rare congenital disorder of glycosylation with characteristics of early onset of hypotonia, severe global developmental delay, intellectual disability, and seizures. Ataxia, mild facial dysmorphism and autistic behavior have also been reported. Brain MRI findings are variable and include cerebral atrophy, cerebellar hypoplasia/atrophy and thin corpus callosum. | en | Definition | Active | Case sensitive | SNOMED CT core |
| 4634854018 | A rare congenital disorder of glycosylation with characteristics of early onset of hypotonia, severe global developmental delay, intellectual disability, and seizures. Ataxia, mild facial dysmorphism and autistic behaviour have also been reported. Brain MRI findings are variable and include cerebral atrophy, cerebellar hypoplasia/atrophy and thin corpus callosum. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Early-onset epilepsy, intellectual disability, brain anomalies syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Early-onset epilepsy, intellectual disability, brain anomalies syndrome | Is a | Global developmental delay | true | Inferred relationship | Some | ||
| Early-onset epilepsy, intellectual disability, brain anomalies syndrome | Is a | Carbohydrate deficient glycoprotein syndrome | true | Inferred relationship | Some | ||
| Early-onset epilepsy, intellectual disability, brain anomalies syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Early-onset epilepsy, intellectual disability, brain anomalies syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Early-onset epilepsy, intellectual disability, brain anomalies syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Early-onset epilepsy, intellectual disability, brain anomalies syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Early-onset epilepsy, intellectual disability, brain anomalies syndrome | Interprets | Intellectual ability | true | Inferred relationship | Some | 2 | |
| Early-onset epilepsy, intellectual disability, brain anomalies syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| Early-onset epilepsy, intellectual disability, brain anomalies syndrome | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 3 | |
| Early-onset epilepsy, intellectual disability, brain anomalies syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Australian dialect reference set
Problem/Diagnosis reference set
FHIR