disorder of galactose metabolism galactosemia COHD:439788 DOID:9870 GARD:0002424 Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form. ICD10:E74.2 ICD10:E74.21 ICD9:271.1 MESH:D005693 MONDO:0018116 MedDRA:10017604 NCIT:C84723 OMIMPS:230400 Orphanet:352 SCTID:190745006 UMLS:C0016952 galactosaemia galactose intolerance galactosemia nephropathy secondary to a storage or other metabolic disease cataract associated with a metabolic disease metabolic disease with cataract