Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2021. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4634848019 | Early-onset epilepsy, intellectual disability, brain anomalies syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 4634849010 | Congenital disorder of glycosylation due to PIGG (phosphatidylinositol glycan anchor biosynthesis class G) deficiency | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 4634850010 | PIGG-CDG - congenital disorder of glycosylation due to PIGG deficiency | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 4634851014 | Congenital disorder of glycosylation due to phosphatidylinositol glycan anchor biosynthesis class G deficiency | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 4634852019 | Early-onset epilepsy, intellectual disability, brain anomalies syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Early-onset epilepsy, intellectual disability, brain anomalies syndrome | Is a | Intellectual disability | true | Inferred relationship | Existential restriction modifier | ||
| Early-onset epilepsy, intellectual disability, brain anomalies syndrome | Is a | Global developmental delay | true | Inferred relationship | Existential restriction modifier | ||
| Early-onset epilepsy, intellectual disability, brain anomalies syndrome | Is a | Carbohydrate-deficient glycoprotein syndrome | true | Inferred relationship | Existential restriction modifier | ||
| Early-onset epilepsy, intellectual disability, brain anomalies syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Early-onset epilepsy, intellectual disability, brain anomalies syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Early-onset epilepsy, intellectual disability, brain anomalies syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Early-onset epilepsy, intellectual disability, brain anomalies syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
| Early-onset epilepsy, intellectual disability, brain anomalies syndrome | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 2 | |
| Early-onset epilepsy, intellectual disability, brain anomalies syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 2 | |
| Early-onset epilepsy, intellectual disability, brain anomalies syndrome | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 3 | |
| Early-onset epilepsy, intellectual disability, brain anomalies syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR