Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 88491015 | Inborn error of pyruvate metabolism | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 791304019 | Inborn error of pyruvate metabolism (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 1724171000005117 | Medfødt fejl i pyruvatstofskiftet | da | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Danish module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Inborn error of pyruvate metabolism | Is a | Inborn error of metabolism | false | Inferred relationship | Some | ||
| Inborn error of pyruvate metabolism | Finding site | Body system structure | false | Inferred relationship | Some | ||
| Inborn error of pyruvate metabolism | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Inborn error of pyruvate metabolism | Is a | Disorder of pyruvate metabolism and mitochondrial respiratory chain | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Pyruvate dehydrogenase complex deficiency | Is a | True | Inborn error of pyruvate metabolism | Inferred relationship | Some | |
| Phosphoenolpyruvate carboxykinase (GTP) deficiency | Is a | True | Inborn error of pyruvate metabolism | Inferred relationship | Some | |
| Pyruvate carboxylase deficiency | Is a | True | Inborn error of pyruvate metabolism | Inferred relationship | Some | |
| A rare pyruvate metabolism disorder characterized by neonatal onset of a mitochondrial encephalopathy with global developmental delay and the biochemical characteristics of lactic acidosis and increased serum pyruvate with normal lactate/pyruvate ratio. Additional reported manifestations include epilepsy, peripheral neuropathy, hypotonia, nystagmus, extensor plantar responses, hepatomegaly, and craniofacial dysmorphism (such as progressive microcephaly, epicanthus, long philtrum, and thin upper lip). | Is a | True | Inborn error of pyruvate metabolism | Inferred relationship | Some |
This concept is not in any reference sets
FHIR