| galactokinasedeficiëntie (aandoening) | | galactokinasedeficiëntie |  | 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 galactokinase | | GALK (galactokinase) deficiency
Galactokinase deficiency
Galactokinase deficiency galactosemia
Galactosemia II
Galactosemia - galactokinase deficiency
| | A rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice |
| | Id | 124302001 | | 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 | 79237 |
| SNOMED CT to ICD-10 extended map | | Target | E74.2 | | Rule | TRUE | | Advice | ALWAYS E74.2 | 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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