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 |
| 3472874016 | Deficiency of alpha-ketoglutarate dehydrogenase (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3472875015 | Deficiency of alpha-ketoglutarate dehydrogenase | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3472876019 | Oxoglutaricaciduria | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6380611000146111 | alfa-ketoglutaraatdehydrogenasedeficiëntie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6380641000146112 | oxoglutaaracidurie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6739821000146118 | deficiëntie van alfa-ketoglutaraatdehydrogenase | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 8643271000146116 | deficiëntie van alfa-ketoglutaraatdehydrogenase (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3472877011 | A very rare tricarboxylic acid cycle disorder resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Deficiency of alpha-ketoglutarate dehydrogenase (disorder) | Is a | Disorder of the central nervous system (disorder) | true | Inferred relationship | Some | ||
| Deficiency of alpha-ketoglutarate dehydrogenase (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Deficiency of alpha-ketoglutarate dehydrogenase (disorder) | Is a | Deficiency of lyase | true | Inferred relationship | Some | ||
| Deficiency of alpha-ketoglutarate dehydrogenase (disorder) | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| Deficiency of alpha-ketoglutarate dehydrogenase (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Deficiency of alpha-ketoglutarate dehydrogenase (disorder) | Finding site | Structure of central nervous system (body structure) | true | Inferred relationship | Some | 1 | |
| Deficiency of alpha-ketoglutarate dehydrogenase (disorder) | Is a | Congenital neurological disorder (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR