A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates. [ url:https://www.ncbi.nlm.nih.gov/pubmed/28857617 url:https://en.wikipedia.org/wiki/Sphingolipidoses http://purl.obolibrary.org/obo/ECO_0007645 http://purl.obolibrary.org/obo/ECO_0007638 ]
Synonyms: sphingolipidoses
Term information
- UMLS_CUI:C0037899
- SNOMEDCT_US_2023_03_01:58459009
- MESH:D013106
- GARD:7672
- NCI:C117254
- ICD10CM:E75.3
DO_rare_slim, NCIthesaurus