Congenital enterocyte heparan sulfate deficiency

disorder

SNOMED 725591002CUI C4511238

Overview

Congenital enterocyte heparan sulfate deficiency 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.

Abnormal circulating polysaccharide concentration

Very frequent (80-99%)HP:0011012

Diarrhea

Very frequent (80-99%)HP:0002014

Hypoalbuminaemia

Very frequent (80-99%)HP:0003073

Protein-losing enteropathy

Very frequent (80-99%)HP:0002243

Weight loss

Very frequent (80-99%)HP:0001824

Abnormal circulating protein level

Frequent (30-79%)HP:0010876

Belly bloating

Frequent (30-79%)HP:0003270

Dehydration

Frequent (30-79%)HP:0001944

Hematochezia

Frequent (30-79%)HP:0002573

Water retention

Frequent (30-79%)HP:0000969

Related Conditions

Congenital anomaly of intestinal tract(parent)

Abnormal intestinal mucosa morphology(parent)

Quick Facts

SNOMED CT: 725591002
UMLS CUI: C4511238
Fully Specified Name: Congenital enterocyte heparan sulfate deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 10

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.