Congenital lactase deficiency

ICD-11 code : 5C61.61;

Preferred Label : Congenital lactase deficiency;

ICD-11 definition : This is a congenital deficiency of lactase (EC 3.2.1.108), inherited as an autosomal recessive trait, presenting in infancy and manifested by profuse watery diarrhoea in response to dietary milk, due to inability to digest lactose, a sugar found in milk and to a lesser extent milk-derived dairy products. The condition may lead to marasmus and death if lactose is not eliminated from the diet.;

ICD-11 synonym : disaccharide intolerance type 2; hereditary alactasia; congenital alactasia syndrome; congenital lactose intolerance; lactose intolerance of newborn; hereditary lactase deficiency.; congenital lactose malabsorption; congenital alactasia; disaccharide intolerance 2; CLD - [congenital lactase deficiency];

ICD-11 acronym : CLD;

Details

Origin ID

2109252471;

UMLS CUI

C0268179;

Automatic exact mappings (from CISMeF team)
- CRd Regimen [NCIt concept]
Currated CISMeF NLP mapping
- Congenital lactase deficiency [ORDO Disease]
- Congenital lactase deficiency [ICD-10 Sub-category]
- Congenital lactase deficiency [ICD-10 Sub-category (who)]
- Congenital lactase deficiency [MedDRA Preferred Term]
- Congenital lactase deficiency (disorder) [SNOMED CT concept]
- Lactase deficiency, congenital [OMIM Phenotype]
- congenital lactase deficiency [SNOMED Notion]
- congenital lactase deficiency [Disease (Nov.)]
- congenital lactase deficiency [DO Concept]
- lactase deficiency, congenital [MeSH Supplementary Concept]
- lactase deficiency, congenital [MeSH concept]
False automatic mappings
- Chloride Anion Exchanger [NCIt concept]
- Cutaneous Lymphoproliferative Disorder [NCIt concept]
- SLC26A3 wt Allele [NCIt concept]
- clonidine-displacing substance [MeSH Supplementary Concept]
- solute carrier family 26 member 3 [ORDO Gene]
ICD-10 Mapping
- Congenital lactase deficiency [ICD-10 Sub-category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
- Pathologic Function [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital lactase deficiency [ICD-10 Sub-category]
- Congenital lactase deficiency [ORDO Disease]
- Congenital lactase deficiency [MedDRA Preferred Term]
- Congenital lactase deficiency (disorder) [SNOMED CT concept]
- Lactase deficiency, congenital [OMIM Phenotype]
- congenital lactase deficiency [Disease (Nov.)]
- congenital lactase deficiency [SNOMED Notion]
- congenital lactase deficiency [DO Concept]
- lactase deficiency, congenital [MeSH concept]
- lactase deficiency, congenital [MeSH Supplementary Concept]

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