Sucrase-isomaltase deficiency, congenital

Preferred Label : Sucrase-isomaltase deficiency, congenital;

Symbol : CSID;

CISMeF acronym : CSID;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sucrose intolerance, congenital; Sucrose-isomaltose malabsorption, congenital; Si deficiency; Disaccharide Intolerance I;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the sucrase-isomaltase gene (SI, 609845.0001);

Laboratory abnormalities : Sucrase-isomerase deficiency;

Prefixed ID : #222900;

Details

Origin ID

222900;

UMLS CUI

C1283620;

Currated CISMeF NLP mapping
- Congenital Sucrase-Isomaltase Deficiency [NCIt concept]
- Congenital sucrase-isomaltase deficiency [ICD-11 Subcategory]
- Congenital sucrase-isomaltase deficiency [ORDO Disease]
- Disaccharidase deficiency (disorder) [SNOMED CT concept]
- Sucrase-isomaltase deficiency [MedDRA Preferred Term]
- Sucrase-isomaltase deficiency (disorder) [SNOMED CT 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]
Genes related to phenotype
- Sucrase-isomaltase [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased mucosal sucrase-isomaltase activity [HPO term]
- Diarrhea [HPO term]
- Infantile onset [HPO term]
- Malabsorption [HPO term]
- Nephrolithiasis [HPO term]
ORDO concept(s)
- Congenital sucrase-isomaltase deficiency [ORDO Disease]
See also inter- (CISMeF)
- Deficiency of beta-fructofuranosidase (disorder) [SNOMED CT concept]
- Deficiency of isomaltase (disorder) [SNOMED CT concept]
- disaccharidase deficiency [Disease (Nov.)]
- intestinal disaccharidase deficiency, nos [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Sucrase-Isomaltase Deficiency [NCIt 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 [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]
Validated automatic mappings to NTBT
- Other disorders of intestinal carbohydrate absorption [ICD-10 Sub-category]
- Sucrase-isomaltase deficiency, congenital [MeSH concept]
- sucrase isomaltase deficiency [Disease (Nov.)]

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