Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5048362012 | Neonatal epileptic encephalopathy due to glutaminase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5048363019 | Neonatal epileptic encephalopathy due to deficiency of glutaminase | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5048364013 | Neonatal epileptic encephalopathy due to deficiency of glutaminase (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5048370019 | A rare genetic neurometabolic disease with characteristics of early neonatal refractory seizures, hypotonia and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5048371015 | A rare genetic neurometabolic disease with characteristics of early neonatal refractory seizures, hypotonia and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions and vasogenic edema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Neonatal epileptic encephalopathy due to glutaminase deficiency | est un(e) (attribut) | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| Neonatal epileptic encephalopathy due to glutaminase deficiency | est un(e) (attribut) | Disorder of glutamine metabolism | true | Inferred relationship | Some | ||
| Neonatal epileptic encephalopathy due to glutaminase deficiency | est un(e) (attribut) | Epileptic encephalopathy (disorder) | true | Inferred relationship | Some | ||
| Neonatal epileptic encephalopathy due to glutaminase deficiency | est un(e) (attribut) | Neonatal metabolic disorder (disorder) | true | Inferred relationship | Some | ||
| Neonatal epileptic encephalopathy due to glutaminase deficiency | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Neonatal epileptic encephalopathy due to glutaminase deficiency | est un(e) (attribut) | complication liée au système nerveux central | true | Inferred relationship | Some | ||
| Neonatal epileptic encephalopathy due to glutaminase deficiency | Due to | Deficiency of glutaminase | true | Inferred relationship | Some | 2 | |
| Neonatal epileptic encephalopathy due to glutaminase deficiency | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Neonatal epileptic encephalopathy due to glutaminase deficiency | survenue (attribut) | néonatal | true | Inferred relationship | Some | 1 | |
| Neonatal epileptic encephalopathy due to glutaminase deficiency | localisation d'une constatation (attribut) | structure du cerveau | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR