Congenital lactase deficiency

disorder

SNOMED 5388008CUI C0268179

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Decreased small intestinal mucosa lactase level

HP:0025130

Dehydration

HP:0001944

Diarrhea

HP:0002014

Metabolic acidosis

HP:0001942

Milk intolerance

HP:0004789

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Enzymopathy(parent)

Lactase deficiency(parent)

Congenital disease(parent)

Quick Facts

SNOMED CT: 5388008
UMLS CUI: C0268179
Fully Specified Name: Congenital lactase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 5

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.