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 |
| 71637011 | Inborn error of amino acid metabolism | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 71640011 | Hyperaminoaciduria | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 779885015 | Inborn error of amino acid metabolism (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Inborn error of amino acid metabolism | Is a | Disorder of amino acid metabolism | false | Inferred relationship | Some | ||
| Inborn error of amino acid metabolism | Finding site | Body system structure | false | Inferred relationship | Some | ||
| Inborn error of amino acid metabolism | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Inborn error of amino acid metabolism | Is a | Disorder of amino acid and organic acid metabolism | true | Inferred relationship | Some | ||
| Inborn error of amino acid metabolism | Is a | Inborn error of metabolism | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Benign neonatal hyperaminoaciduria | Is a | False | Inborn error of amino acid metabolism | Inferred relationship | Some | |
| Carbamoyl-phosphate synthetase 1 deficiency (disorder) | Is a | True | Inborn error of amino acid metabolism | Inferred relationship | Some | |
| Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome | Is a | True | Inborn error of amino acid metabolism | Inferred relationship | Some | |
| Cystathioninuria | Is a | True | Inborn error of amino acid metabolism | Inferred relationship | Some | |
| Isobutyryl-coenzyme A dehydrogenase deficiency disease (disorder) | Is a | True | Inborn error of amino acid metabolism | Inferred relationship | Some | |
| 2-methylbutyryl-coenzyme A dehydrogenase deficiency disease | Is a | True | Inborn error of amino acid metabolism | Inferred relationship | Some | |
| Glutaryl-CoA dehydrogenase deficiency | Is a | True | Inborn error of amino acid metabolism | Inferred relationship | Some |
This concept is not in any reference sets
FHIR