galactosemia
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. [ ]
Term info
galactosemia
- galactosaemia
- galactose intolerance
- galactosemia
disease_grouping, ordo_group_of_disorders
http://identifiers.org/meddra/10017604
http://linkedlifedata.com/resource/umls/id/C0016952, http://purl.obolibrary.org/obo/NCIT_C84723, https://omim.org/phenotypicSeries/PS230400, http://purl.obolibrary.org/obo/Orphanet_352, http://identifiers.org/mesh/D005693, http://purl.obolibrary.org/obo/DOID_9870, http://identifiers.org/snomedct/190745006
MONDO:0018116
https://icd.codes/icd10cm/E74.2