Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3700827018 | Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3700828011 | Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3700829015 | Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3700830013 | Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A (glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A) mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3700831012 | A rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3700832017 | A rare intellectual disability and epilepsy syndrome characterised by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalised seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | Is a | Symptomatic generalized epilepsy | true | Inferred relationship | Some | ||
| Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | Finding site | Cerebrum | true | Inferred relationship | Some | 1 | |
| Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | Is a | Childhood seizure | false | Inferred relationship | Some | ||
| Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | Occurrence | Childhood | true | Inferred relationship | Some | 1 | |
| Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
| Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
| Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | Has interpretation | Impaired | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR