| galactokinasedeficiëntie (aandoening) | | galactokinasedeficiëntie | | 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. Patients generally have elevated plasma galactose and increased urinary excretion of galactitol. They develop cataracts during the first weeks or months of life as a result of accumulation of galactitol in the lens. Patients are otherwise healthy. Caused by mutations in the GALK1 gene (17q24) coding for the galactokinase enzyme. The disorder is inherited in an autosomal recessive manner. |
| | 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 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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