| Metadata | |
|---|---|
| ID | DOID:0111633 |
| Name | congenital sucrase-isomaltase 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. https://ghr.nlm.nih.gov/condition/congenital-sucrase-isomaltase-deficiency, https://www.ncbi.nlm.nih.gov/pubmed/3925457 |
| Xrefs |
SNOMEDCT_US_2023_03_01:78373000 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
congenital sucrase-isomaltose malabsorption [EXACT] congenital sucrose intolerance [EXACT] CSID [EXACT] disaccharide intolerance [EXACT] SI deficiency [EXACT] |
| Parent Relationships |
is_a carbohydrate metabolic disorder is_a autosomal recessive disease is_a physical disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |