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 |
| 3307417012 | Characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit. Less than 10 cases have been reported to date. Defects in renal and intestinal glutamate and aspartate transport were also reported, suggesting that anomalies of the EAAC1 transporter, involved in the transport of these two amino acids, are the underlying cause of this syndrome. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3307418019 | Characterized by infantile-onset hypoglycemia and hyperprolinemia associated, in certain cases, with intellectual deficit. Less than 10 cases have been reported to date. Defects in renal and intestinal glutamate and aspartate transport were also reported, suggesting that anomalies of the EAAC1 transporter, involved in the transport of these two amino acids, are the underlying cause of this syndrome. | en | Definition | Inactive | Entire term case sensitive (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 |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 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. | Is a | Amino acid transport disorder | true | Inferred relationship | Some | ||
| 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. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| 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. | Is a | Inherited aminoaciduria | true | Inferred relationship | Some | ||
| 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. | Interprets | Urine observable | true | Inferred relationship | Some | 1 | |
| 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. | Interprets | Measurement of amino acid in urine | true | Inferred relationship | Some | 2 | |
| 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. | Has interpretation | Above reference range (qualifier value) | 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