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 | Inactive | 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 |
| 5407497011 | Pyridoxamine 5-phosphate deficiency developmental and epileptic encephalopathy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5407498018 | Pyridoxamine 5-phosphate deficiency developmental and epileptic encephalopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5407499014 | P5PD-DEE - pyridoxamine 5-phosphate deficiency developmental and epileptic encephalopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5407500017 | P5PD developmental and epileptic encephalopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5408270017 | PNPO-DEE - pyridoxamine 5-phosphate oxidase developmental and epileptic encephalopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5425021019 | Pyridoxamine 5'-phosphate deficiency developmental and epileptic encephalopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5464930016 | A type of developmental and epileptic encephalopathy caused by biallelic variants in the PNPO gene, part of the lysine degradation pathway. Onset of seizures is usually shortly after birth or with intrauterine convulsions. Seizures are drug-resistant and frequent (often evolving to status epilepticus) but rapidly responding to pyridoxal-5'-phosphate. There are variable seizure types including focal/multifocal seizures, tonic seizures, clonic seizures, tonic-clonic seizures, epileptic spasms and multifocal myoclonus affecting limbs, trunk, eyes, and facial muscles. Infants may appear hyperkinetic, distressed, irritable and agitated. Infants may be acidotic and hypotonic. Cirrhosis of the liver has been reported. EEG is abnormal with slowing and focal/multifocal discharges or burst suppression pattern. The biomarker pyridoxal−5-phosphate is low in cerebrospinal fluid. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Pyridoxamine 5-phosphate deficiency developmental and epileptic encephalopathy (disorder) | Is a | Disorder of neurometabolic regulation | true | Inferred relationship | Some | ||
| Pyridoxamine 5-phosphate deficiency developmental and epileptic encephalopathy (disorder) | Is a | Epilepsy | false | Inferred relationship | Some | ||
| Pyridoxamine 5-phosphate deficiency developmental and epileptic encephalopathy (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Pyridoxamine 5-phosphate deficiency developmental and epileptic encephalopathy (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Pyridoxamine 5-phosphate deficiency developmental and epileptic encephalopathy (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Pyridoxamine 5-phosphate deficiency developmental and epileptic encephalopathy (disorder) | Has definitional manifestation | Seizure | false | Inferred relationship | Some | ||
| Pyridoxamine 5-phosphate deficiency developmental and epileptic encephalopathy (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Pyridoxamine 5-phosphate deficiency developmental and epileptic encephalopathy (disorder) | Finding site | Structure of endocrine system (body structure) | true | Inferred relationship | Some | 3 | |
| Pyridoxamine 5-phosphate deficiency developmental and epileptic encephalopathy (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Pyridoxamine 5-phosphate deficiency developmental and epileptic encephalopathy (disorder) | Finding site | Cerebrum | false | Inferred relationship | Some | 4 | |
| Pyridoxamine 5-phosphate deficiency developmental and epileptic encephalopathy (disorder) | Is a | Congenital disease (disorder) | true | Inferred relationship | Some | ||
| Pyridoxamine 5-phosphate deficiency developmental and epileptic encephalopathy (disorder) | Is a | Developmental and epileptic encephalopathy | true | Inferred relationship | Some | ||
| Pyridoxamine 5-phosphate deficiency developmental and epileptic encephalopathy (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Pyridoxamine 5-phosphate deficiency developmental and epileptic encephalopathy (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Pyridoxamine 5-phosphate deficiency developmental and epileptic encephalopathy (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Pyridoxamine 5-phosphate deficiency developmental and epileptic encephalopathy (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR