Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3307414017 | Dicarboxylic aminoaciduria syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3307415016 | Dicarboxylic aminoaciduria syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3307416015 | Glutamate aspartate transport defect | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5401399018 | A rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of dicarboxylic amino acids, glutamate and aspartate, that can be associated with kidney stones and neuropsychiatric manifestations. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401400013 | A rare autosomal recessive inborn error of metabolism characterised by increased urinary excretion of dicarboxylic amino acids, glutamate and aspartate, that can be associated with kidney stones and neuropsychiatric manifestations. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Dicarboxylic aminoaciduria syndrome (disorder) | Is a | Amino acid transport disorder | true | Inferred relationship | Some | ||
| Dicarboxylic aminoaciduria syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Dicarboxylic aminoaciduria syndrome (disorder) | Is a | Inherited aminoaciduria | true | Inferred relationship | Some | ||
| Dicarboxylic aminoaciduria syndrome (disorder) | Interprets | Urine observable | true | Inferred relationship | Some | 1 | |
| Dicarboxylic aminoaciduria syndrome (disorder) | Interprets | Measurement of amino acid in urine | true | Inferred relationship | Some | 2 | |
| Dicarboxylic aminoaciduria syndrome (disorder) | Has interpretation | Above reference range | 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