| aandoening door deficiëntie van glutathionsynthetase (aandoening) | | aandoening door deficiëntie van glutathionsynthetase | | stoornis door glutathionsynthetasedeficiëntie
| | Glutathione synthetase deficiency | | Pyroglutamicaciduria
Pyroglutamic aciduria
| | A rare disorder characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. |
| | Id | 234589002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 32 |
| SNOMED CT to ICD-10 extended map | | Target | D55.1 | | Rule | TRUE | | Advice | ALWAYS D55.1 | 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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