Terminology Service for NFDI4Health
sphingolipidosis
Go to external page
http://purl.obolibrary.org/obo/MONDO_0019255
An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. [ http://www.ncbi.nlm.nih.gov/pubmed/21502308 ]
Term info
Label
sphingolipidosis
Synonyms
- sphingolipidoses
Subsets
gard_rare, disease_grouping, ordo_group_of_disorders
broadMatch
https://icd.codes/icd10cm/E75.1, https://icd.codes/icd10cm/E75.2, https://icd.codes/icd10cm/E75.3
exactMatch
http://identifiers.org/snomedct/238028008, http://purl.obolibrary.org/obo/NCIT_C117254, http://purl.obolibrary.org/obo/Orphanet_79225, http://purl.obolibrary.org/obo/DOID_1927, http://identifiers.org/mesh/D013106, http://linkedlifedata.com/resource/umls/id/C0037899
id
MONDO:0019255
see also
https://rarediseases.info.nih.gov/diseases/7672/sphingolipidosis