Terminology Service for NFDI4Health

galactosemia

Go to external page http://purl.obolibrary.org/obo/MONDO_0018116


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

Label

galactosemia

Synonyms
  • galactosaemia
  • galactose intolerance
  • galactosemia
database cross reference
Subsets

disease_grouping, ordo_group_of_disorders

closeMatch

http://identifiers.org/meddra/10017604

exactMatch

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

id

MONDO:0018116

narrowMatch

https://icd.codes/icd10cm/E74.2