congenital lactase deficiency

Term ID

DOID:0111646

Synonyms

• CLD
• congenital alactasia
• congenital alactasia syndrome
• congenital lactose intolerance
• congenital lactose malabsorption
• disaccharide intolerance II

Definition

A carbohydrate metabolic disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas that has_material_basis_in homozygous or compound heterozygous mutation in LCT on chromosome 2q21.3. (3)

References

• ICD10CM:E73.0
• MESH:C562600
• OMIM:223000
• ORDO:53690
• SNOMEDCT_US_2023_03_01:5388008
• UMLS_CUI:C0268179

Ontology

Human Disease   ( DOID:0111646 )