Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells

disorder

SNOMED 722392003CUI C1835888

Overview

Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

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

Abnormality of the liver

Always present (100%)HP:0001392

Fat malabsorption

Always present (100%)HP:0002630

Hepatitis

Always present (100%)HP:0012115

Infection in blood stream

Always present (100%)HP:0100806

Intermittent involuntary muscle spasm

Always present (100%)HP:0001281

Macrovesicular steatosis

Always present (100%)HP:0001403

Microvesicular steatosis

Always present (100%)HP:0001414

Undergrowth

Always present (100%)HP:0001508

Weak and soft bones

Always present (100%)HP:0002748

Dehydration

Very frequent (80-99%)HP:0001944

Diarrhea

Very frequent (80-99%)HP:0002014

Hyperchloremic metabolic acidosis

Very frequent (80-99%)HP:0004918

Intestinal malabsorption

Very frequent (80-99%)HP:0002024

Vomiting

Very frequent (80-99%)HP:0002013

Abnormal cellular phenotype

Frequent (30-79%)HP:0025354

Cholestatic liver disease

Frequent (30-79%)HP:0002611

Gallstones

Frequent (30-79%)HP:0001081

Hyperglycemia

Frequent (30-79%)HP:0003074

Increased stool alpha1-antitrypsin concentration

Frequent (30-79%)HP:0031686

Intractable diarrhoea

Frequent (30-79%)HP:0002041

Portal hypertension

Frequent (30-79%)HP:0001409

Type I diabetes mellitus

Frequent (30-79%)HP:0100651

Abnormal circulating amino acid concentration

Excluded (<1%)HP:0003112

Abnormal serum anion gap

Excluded (<1%)HP:0031961

Decreased small intestinal mucosa lactase level

Excluded (<1%)HP:0025130

Elevated sweat chloride

Excluded (<1%)HP:0012236

Elevated total cholesterol

Excluded (<1%)HP:0003124

Increased blood lactate

Excluded (<1%)HP:0002151

Increased serum pyruvate

Excluded (<1%)HP:0003542

Increased triglycerides

Excluded (<1%)HP:0002155

Related Conditions

Chronic diarrhea of infants AND/OR young children(parent)

Malabsorption syndrome(parent)

Congenital disease(parent)

Recessive hereditary disorder (autosomal)(parent)

Digestive system hereditary disorder(parent)

Disorder of digestive system specific to fetus OR newborn(parent)

Quick Facts

SNOMED CT: 722392003
UMLS CUI: C1835888
Fully Specified Name: Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.