Congenital Sucrase-Isomaltase Deficiency

Preferred Label : Congenital Sucrase-Isomaltase Deficiency;

NCIt synonyms : Disaccharide Intolerance 1;

NCIt definition : An autosomal recessive genetic disorder caused by mutations in the SI gene, encoding sucrase-isomaltase, intestinal. The condition is characterized by malabsorption and osmotic diarrhea.;

Details

Origin ID

C128190;

UMLS CUI

C1283620;

Currated CISMeF NLP mapping
- Congenital sucrase-isomaltase deficiency [ORDO Disease]
- Congenital sucrase-isomaltase deficiency [ICD-11 Subcategory]
- Disaccharidase deficiency (disorder) [SNOMED CT concept]
- Other disorders of intestinal carbohydrate absorption [ICD-10 Sub-category]
- Sucrase-isomaltase deficiency [MedDRA Preferred Term]
- Sucrase-isomaltase deficiency (disorder) [SNOMED CT concept]
- Sucrase-isomaltase deficiency, congenital [OMIM Phenotype]
- Sucrase-isomaltase deficiency, congenital [MeSH concept]
- congenital sucrase isomaltase deficiency [Disease (Nov.)]
- congenital sucrase-isomaltase deficiency [DO Concept]
- sucrase isomaltase deficiency [Disease (Nov.)]
- sucrase-isomaltase deficiency [SNOMED Notion]
- sucrase-isomaltase deficiency [TUV Concept]
- sucrase-isomaltase deficiency, congenital [MeSH Supplementary Concept]
DO Cross reference
- congenital sucrase-isomaltase deficiency [DO Concept]
See also inter- (CISMeF)
- Deficiency of beta-fructofuranosidase (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital sucrase-isomaltase deficiency [ORDO Disease]
- Deficiency of isomaltase (disorder) [SNOMED CT concept]
- Sucrase-isomaltase deficiency [MedDRA Preferred Term]
- Sucrase-isomaltase deficiency (disorder) [SNOMED CT concept]
- Sucrase-isomaltase deficiency, congenital [OMIM Phenotype]
- Sucrase-isomaltase deficiency, congenital [MeSH concept]
- congenital sucrase isomaltase deficiency [Disease (Nov.)]
- congenital sucrase-isomaltase deficiency [DO Concept]
- sucrase isomaltase deficiency [Disease (Nov.)]
- sucrase-isomaltase deficiency [SNOMED Notion]
- sucrase-isomaltase deficiency [TUV Concept]
- sucrase-isomaltase deficiency, congenital [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- SI Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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