congenital sucrase-isomaltase deficiency (DOID:0111633)
Alliance: disease page
Synonyms: congenital sucrase-isomaltose malabsorption; congenital sucrose intolerance; CSID; disaccharide intolerance; SI deficiency
Alt IDs: OMIM:222900, ICD10CM:E74.31, MESH:C538139, NCI:C128190, ORDO:35122, UMLS_CUI:C1283620
Definition: A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1.