galactose-1-fosfaat-uridyltransferasedeficiëntie (aandoening) | | galactose-1-fosfaat-uridyltransferasedeficiëntie | | 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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