Congenital sucrase-isomaltase deficiency

ICD-11 code : 5C61.2;

Preferred Label : Congenital sucrase-isomaltase deficiency;

ICD-11 definition : Congenital sucrase-isomaltase deficiency (CSID) is a carbohydrate intolerance disorder characterised by malabsorption of oligosaccharides and disaccharides. CSID is transmitted as an autosomal recessive trait and is caused by mutations in the brush-border membrane complex sucrase-isomaltase (SI), which is required for the breakdown of sucrose and starch into monosaccharides. The SI deficiency results in an accumulation of disaccharides in the lumen, causing osmotic diarrhoea. The prognosis for patients is good as the starch intolerance usually resolves during the first few years of life and sucrose intolerance usually improves with age.;

ICD-11 synonym : Disaccharide intolerance type I; Invertase deficiency; Disaccharidase deficiency; Sucrase-alpha-dextrinase deficiency; sucrose intolerance of newborn; CSID - [Congenital sucrase-isomaltase deficiency]; Congenital sucrose intolerance; Congenital sucrose-isomaltose malabsorption;

ICD-11 acronym : CSID;

Details

Origin ID

1817406536;

Automatic exact mappings (from CISMeF team)
- Disaccharidase deficiency [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Congenital Sucrase-Isomaltase Deficiency [NCIt concept]
- Congenital sucrase-isomaltase deficiency [ORDO Disease]
- 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]
ICD-10 Mapping
- Other disorders of intestinal carbohydrate absorption [ICD-10 Sub-category]
See also inter- (CISMeF)
- Deficiency of beta-fructofuranosidase (disorder) [SNOMED CT concept]
- disaccharidase deficiency [Disease (Nov.)]
- intestinal disaccharidase deficiency, nos [SNOMED Notion]
Validated automatic mappings to NTBT
- Deficiency of isomaltase (disorder) [SNOMED CT concept]
- Other disorders of intestinal carbohydrate absorption [ICD-10 Sub-category]
- saccharase deficiency [Disease (Nov.)]

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