Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Aganglionic megacolon
Very frequent (80-99%)HP:0002251
Bowel obstruction
Very frequent (80-99%)HP:0005214
Constipation
Very frequent (80-99%)HP:0002019
Functional abnormality of the gastrointestinal tract
Very frequent (80-99%)HP:0012719
Nausea and vomiting
Very frequent (80-99%)HP:0002017
Stomach pain
Very frequent (80-99%)HP:0002027
Abdominal swelling
Frequent (30-79%)HP:0003270
Bilious emesis
Frequent (30-79%)HP:0034754
Delayed passage of meconium
Frequent (30-79%)HP:6000224
Feeding difficulties
Frequent (30-79%)HP:0011968
Weight loss
Frequent (30-79%)HP:0001824
Colon perforation
Occasional (5-29%)HP:0031369
Decreased body height
Occasional (5-29%)HP:0004322
Diarrhea
Occasional (5-29%)HP:0002014
Enterocolitis
Occasional (5-29%)HP:0004387
Failure to thrive in first year of life
Occasional (5-29%)HP:0001531
Growth failure
Occasional (5-29%)HP:0001510
Hydramnios
Occasional (5-29%)HP:0001561
Infection in blood stream
Occasional (5-29%)HP:0100806
Related Conditions
Long segment Hirschsprung's disease(child)
Short segment Hirschsprung's disease(child)
Total intestinal aganglionosis(child)
Aganglionosis of Auerbach's plexus(child)
Mowat-Wilson syndrome(child)
Waardenburg syndrome co-occurrent with Hirschsprung disease(child)
Haddad syndrome(child)
Goldberg Shprintzen megacolon syndrome(child)
Hirschsprung disease with deafness and polydactyly syndrome(child)
Hirschsprung disease with type D brachydactyly syndrome(child)
Hirschsprung disease with nail hypoplasia and dysmorphism(child)
Hirschsprung disease of rectosigmoid region(child)
Extensive aganglionosis Hirschsprung disease(child)
Congenital dilatation of intestinal tract(parent)
Aganglionosis of large intestine(parent)
Dilatation of large intestine(parent)
Quick Facts
- SNOMED CT
- 204739008
- UMLS CUI
- C0019569
- Fully Specified Name
- Congenital aganglionic megacolon (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
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.