| galactose-1-fosfaat-uridyltransferasedeficiëntie (aandoening) | | galactose-1-fosfaat-uridyltransferasedeficiëntie |  | Dit betekent dat je lichaam bepaalde suikers niet goed kan afbreken. Hierdoor hopen deze suikers zich op in je lichaam. Dit kan voor problemen zorgen. | | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | | Classical galactosemia
GALT deficiency
Deficiency of galactose-1-phosphate uridyl transferase
Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase
Deficiency of hexose-1-phosphate uridylyltransferase
Transferase deficiency galactosemia
Deficiency of uridyl transferase
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| | Id | 124354006 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E74.2 | | Term | Stoornissen van galactosemetabolisme |
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| SNOMED CT to Orphanet simple map | 79239 |
| SNOMED CT to ICD-10 extended map | | Target | E88.8 | | Rule | TRUE | | Advice | ALWAYS E88.8 | POSSIBLE REQUIREMENT FOR AN EXTERNAL CAUSE CODE | | Correlation | SNOMED CT source code to target map code correlation not specified |
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