Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 1225519017 | Branched chain ketoacid dehydrogenase deficiency | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 1225520011 | BCKD - Branched chain alpha-ketoacid dehydrogenase deficiency | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 1225521010 | MSUD - Maple syrup urine disease | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 1225522015 | Oxo-acid decarboxylase deficiency | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 196615010 | Ketoacidemia | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 196616011 | Branched chain ketoaciduria | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 46396017 | Maple syrup urine disease | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 46398016 | Branched-chain alpha-keto acid dehydrogenase deficiency | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 46399012 | BCKD deficiency | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 46400017 | MSUD | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 46401018 | Ketoacid decarboxylase deficiency | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 483637010 | Ketoacidaemia | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 758317019 | Maple syrup urine disease (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Maple syrup urine disease | Is a | Enzymopathy | true | Inferred relationship | Some | ||
| Maple syrup urine disease | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Maple syrup urine disease | Is a | Disorder of branched-chain amino acid metabolism | true | Inferred relationship | Some | ||
| Maple syrup urine disease | Is a | Inborn error of metabolism | true | Inferred relationship | Some | ||
| Maple syrup urine disease | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Maple syrup urine disease | Finding site | Body system structure | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Intermittent maple syrup urine disease | Is a | False | Maple syrup urine disease | Inferred relationship | Some | |
| Mild maple syrup urine disease | Is a | True | Maple syrup urine disease | Inferred relationship | Some | |
| Dihydrolipoamide dehydrogenase deficiency | Is a | True | Maple syrup urine disease | Inferred relationship | Some | |
| Thiamin-responsive maple syrup urine disease | Is a | True | Maple syrup urine disease | Inferred relationship | Some | |
| Classical maple syrup urine disease | Is a | True | Maple syrup urine disease | Inferred relationship | Some | |
| Intermediate maple syrup urine disease | Is a | True | Maple syrup urine disease | Inferred relationship | Some | |
| Intermittent maple syrup urine disease | Is a | True | Maple syrup urine disease | Inferred relationship | Some | |
| Maple syrup urine disease, multiple dehydrogenase form | Is a | True | Maple syrup urine disease | Inferred relationship | Some |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR