Hirschsprung Disease Susceptibility To 4 C3150975
A genetic variation potentially linked to increased risk of Hirschsprung disease, which involves missing nerve cells in parts of the colon, typically managed with surgery.
Key facts at a glance
- ICD-10
- K76.9
- ICD-11
- DA00.0
- Body system
- gastrointestinal
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Rectal bleeding
Abdominal pain or nausea
(gastrointestinal)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Chronic constipation
(gastrointestinal)Abdominal distension
(gastrointestinal)Enterocolitis
(gastrointestinal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
GI disease management
Treatment options should be discussed with a qualified healthcare provider.
Pull-through procedure
Surgical removal of the affected segment of colon with attachment of healthy bowel to the rectum, allowing normal bowel movements.
Temporary colostomy
Creation of a stoma to divert stool while the colon heals after initial surgery, typically reversed in a second procedure.
Additional treatment options
Bowel management program
Structured daily routine including scheduled toileting, irrigation techniques, and dietary modifications to maintain regular bowel function.
lifestyleHigh-fiber nutritional plan
Dietary approach emphasizing fiber-rich foods, adequate hydration, and foods that promote bowel regularity.
dietaryRegular gastrointestinal follow-up
Scheduled appointments with gastroenterology for clinical assessment, imaging studies, and monitoring of bowel function.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Hirschsprung Disease Susceptibility To 4 C3150975?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Kessmann J, Rothenberg S, Alexander F. Management of Hirschsprung disease: guidelines from the American Pediatric Surgical Association. Pediatr Surg Int. 2022.
Amiel J, Lyonnet S, Bouvier R, et al. Prospective evaluation of RET gene testing in Hirschsprung disease susceptibility: a multicenter study. J Pediatr Gastroenterol Nutr. 2019.
Garcia-Barcelo MM, Tang CS, Tam PK. Genetics of Hirschsprung disease: a meta-analysis of associated genes and pathways. Nat Rev Gastroenterol Hepatol. 2021.
Zhang Y, Jiang J, Wang Q, Liu Z. Association between EDNRB polymorphisms and Hirschsprung disease susceptibility: systematic review and meta-analysis. Eur J Hum Genet. 2020.
Medication Comparisons
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This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy