Congenital microvillous atrophy

disorder

SNOMED 235729009CUI C0341306

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.

Protracted diarrhea

Always present (100%)HP:0004385

Abdominal swelling

Frequent (30-79%)HP:0003270

Abnormal small intestinal villus morphology

Frequent (30-79%)HP:0011472

Atrophy of small intestinal villi

Frequent (30-79%)HP:0011473

Cognitive delay

Frequent (30-79%)HP:0001263

Dehydration

Frequent (30-79%)HP:0001944

Diarrhea

Frequent (30-79%)HP:0002014

Hypovolemia

Frequent (30-79%)HP:0011106

Increased calcium level in kidney

Frequent (30-79%)HP:0000121

Metabolic acidosis

Frequent (30-79%)HP:0001942

Renal functional abnormality

Frequent (30-79%)HP:0012211

Skin itching

Frequent (30-79%)HP:0000989

Abnormality of the intestine

HP:0002242

Malnutrition

HP:0004395

Poor growth

HP:0001510

Related Conditions

Familial absence of villi(child)

Malabsorption syndrome(parent)

Congenital anomaly of small intestine(parent)

Quick Facts

SNOMED CT: 235729009
UMLS CUI: C0341306
Fully Specified Name: Congenital microvillous atrophy (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 15

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.