Overview
Congenital tufting enteropathy 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.
Chronic diarrhoea
Very frequent (80-99%)HP:0002028
Intestinal malabsorption
Very frequent (80-99%)HP:0002024
Small intestine biopsy shows villous atrophy
Very frequent (80-99%)HP:0011473
Undergrowth
Very frequent (80-99%)HP:0001508
Abnormal small intestinal mucosa morphology
Frequent (30-79%)HP:0025129
Belly bloating
Frequent (30-79%)HP:0003270
Dehydration
Frequent (30-79%)HP:0001944
Elevated faecal osmolality
Frequent (30-79%)HP:0032486
Fat in feces
Frequent (30-79%)HP:0002570
Irritability
Frequent (30-79%)HP:0000737
Secretory diarrhea
Frequent (30-79%)HP:0005208
Weight loss
Frequent (30-79%)HP:0001824
Abnormal large intestinal mucosa morphology
Occasional (5-29%)HP:0025090
Cataract
Occasional (5-29%)HP:0000518
Corneal erosion
Occasional (5-29%)HP:0200020
Dermatopathy
Occasional (5-29%)HP:0000951
Joint inflammation
Occasional (5-29%)HP:0001369
Photophobia
Occasional (5-29%)HP:0000613
Absent anus
Very rare (1-4%)HP:0002023
Choanal atresia
Very rare (1-4%)HP:0000453
Cholestatic liver disease
Very rare (1-4%)HP:0002611
Optic disc coloboma
Very rare (1-4%)HP:0000588
Oral cleft
Very rare (1-4%)HP:0000202
Punctate keratitis
Very rare (1-4%)HP:0011859
Skeletal dysplasia
Very rare (1-4%)HP:0002652
Vomiting
Very rare (1-4%)HP:0002013
Related Conditions
Recessive hereditary disorder (autosomal)(parent)
Soft tissue lesion(parent)
Lesion of mucosa(parent)
Disorder of jejunum(parent)
Digestive system hereditary disorder(parent)
Congenital anomaly of duodenum(parent)
Developmental hereditary disorder(parent)
Congenital anomaly of lower alimentary tract(parent)
Abnormality of small intestinal mucosa morphology(parent)
Quick Facts
- SNOMED CT
- 715669000
- UMLS CUI
- C4275062
- Fully Specified Name
- Congenital epithelial dysplasia of intestine (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 26
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.