Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3481728015 | Pyridoxal 5-phosphate dependent epilepsy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3481729011 | Pyridoxal 5-phosphate dependent epilepsy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3481730018 | Pyridoxal phosphate-responsive seizures | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Pyridoxal 5-phosphate dependent epilepsy (disorder) | Is a | Disorder of neurometabolic regulation | true | Inferred relationship | Some | ||
| Pyridoxal 5-phosphate dependent epilepsy (disorder) | Is a | Epilepsy | true | Inferred relationship | Some | ||
| Pyridoxal 5-phosphate dependent epilepsy (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Pyridoxal 5-phosphate dependent epilepsy (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Pyridoxal 5-phosphate dependent epilepsy (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Pyridoxal 5-phosphate dependent epilepsy (disorder) | Has definitional manifestation | Seizure | false | Inferred relationship | Some | ||
| Pyridoxal 5-phosphate dependent epilepsy (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Pyridoxal 5-phosphate dependent epilepsy (disorder) | Finding site | Structure of endocrine system (body structure) | true | Inferred relationship | Some | 3 | |
| Pyridoxal 5-phosphate dependent epilepsy (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Pyridoxal 5-phosphate dependent epilepsy (disorder) | Finding site | Cerebrum | true | Inferred relationship | Some | 4 | |
| Pyridoxal 5-phosphate dependent epilepsy (disorder) | Is a | Congenital disease (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR