| deficiëntie van galactosemutarotase (aandoening) | | deficiëntie van galactosemutarotase | | GALM-deficiëntie
galactosemie type IV
galactosemie type 4
galactosemie door aldose-1-epimerasedeficiëntie
| | Deficiency of galactose mutarotase | | GALM (galactose mutarotase) deficiency
Galactosemia type 4
| | A rare disorder of galactose metabolism characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase. Patients may present bilateral cataract, while gastrointestinal symptoms or severe liver dysfunction are absent. The natural history of the disease is unknown. Severe complications, such as neurological symptoms, have not been reported under early treatment with a galactose-restricted diet. |
| | Id | 1187616008 | | 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 | 570422 |
| SNOMED CT to ICD-10 extended map | | Target | E88.8 | | Rule | TRUE | | Advice | ALWAYS E88.8 | 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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