Lactase deficiency, congenital

Preferred Label : Lactase deficiency, congenital;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Alactasia, congenital; Disaccharide intolerance II;

Description : Congenital lactase deficiency is a severe gastrointestinal disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in lactase (LCT, 603202.0001);

Laboratory abnormalities : Decreased-absent intestinal mucosa lactase activity; Normal maltase, isomaltase, and sucrase activity;

Prefixed ID : #223000;

Details

Origin ID

223000;

UMLS CUI

C0268179;

Currated CISMeF NLP mapping
- Congenital lactase deficiency [ICD-10 Sub-category]
- Congenital lactase deficiency [ICD-11 Sub-sub category]
- Congenital lactase deficiency [MedDRA Preferred Term]
- Congenital lactase deficiency [ICD-10 Sub-category (who)]
- Congenital lactase deficiency [ORDO Disease]
- Congenital lactase deficiency (disorder) [SNOMED CT concept]
- congenital lactase deficiency [Disease (Nov.)]
- congenital lactase deficiency [DO Concept]
- congenital lactase deficiency [SNOMED Notion]
- lactase deficiency, congenital [MeSH concept]
- lactase deficiency, congenital [MeSH Supplementary Concept]
DO Cross reference
- congenital lactase deficiency [DO Concept]
Genes related to phenotype
- Lactase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased small intestinal mucosa lactase level [HPO term]
- Dehydration [HPO term]
- Diarrhea [HPO term]
- Lactose intolerance [HPO term]
- Metabolic acidosis [HPO term]
ORDO concept(s)
- Congenital lactase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital lactase deficiency [ICD-10 Sub-category (who)]
- Congenital lactase deficiency [ORDO Disease]
- Congenital lactase deficiency [ICD-10 Sub-category]
- Congenital lactase deficiency [ICD-11 Sub-sub category]
- Congenital lactase deficiency [MedDRA Preferred Term]
- Congenital lactase deficiency (disorder) [SNOMED CT concept]
- 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]

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