| dicarboxylaminoaciduriesyndroom (aandoening) | | dicarboxylaminoaciduriesyndroom | | Dicarboxylic aminoaciduria syndrome | | Glutamate aspartate transport defect
| | 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. |
| | Id | 716747007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 2195 |
| SNOMED CT to ICD-10 extended map | | Target | E72.0 | | Rule | TRUE | | Advice | ALWAYS E72.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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