Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3700827018 | Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 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 | SNOMED CT core module |
| 3700829015 | Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 3700830013 | Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A (glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A) mutation | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation | Is a | Intellectual disability | true | Inferred relationship | Existential restriction modifier | ||
| Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation | Is a | Symptomatic generalized epilepsy | true | Inferred relationship | Existential restriction modifier | ||
| Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation | Finding site | Structure of cerebrum | true | Inferred relationship | Existential restriction modifier | 1 | |
| Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation | Is a | Childhood seizure | false | Inferred relationship | Existential restriction modifier | ||
| Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Existential restriction modifier | ||
| Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation | Occurrence | Childhood | true | Inferred relationship | Existential restriction modifier | 1 | |
| Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 2 | |
| Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 3 | |
| Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 3 | |
| Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 4 | |
| Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR