Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4634849010 | Congenital disorder of glycosylation due to PIGG (phosphatidylinositol glycan anchor biosynthesis class G) deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4634850010 | PIGG-CDG - congenital disorder of glycosylation due to PIGG deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4634851014 | Congenital disorder of glycosylation due to phosphatidylinositol glycan anchor biosynthesis class G deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4634852019 | Early-onset epilepsy, intellectual disability, brain anomalies syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5399356012 | A rare congenital disorder of glycosylation characterized by 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399357015 | A rare congenital disorder of glycosylation characterised by 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 | Entire term case sensitive (core metadata concept) | 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 (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Early-onset epilepsy, intellectual disability, brain anomalies syndrome | Interprets | Intellectual ability (observable entity) | 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 behavior (observable entity) | 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
Component annotation with string value reference set (foundation metadata concept)
FHIR