congenital sucrase-isomaltase deficiency

Term ID

DOID:0111633

Synonyms

• congenital sucrase-isomaltose malabsorption
• congenital sucrose intolerance
• CSID
• disaccharide intolerance
• SI deficiency

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. (2)

References

• GARD:7710
• ICD10CM:E74.31
• MEDDRA:10066387
• MESH:C538139
• NCI:C128190
• OMIM:222900
• ORDO:35122
• SNOMEDCT_US_2023_03_01:78373000
• UMLS_CUI:C1283620

Ontology

Human Disease   ( DOID:0111633 )