Hirschsprung Disease Susceptibility To 8 C1969482
A genetic variation associated with susceptibility to Hirschsprung disease, a condition where nerves fail to develop in portions of the colon, typically requiring surgical treatment.
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
Abdominal distension
Bilious vomiting
Enterocolitis
Abdominal pain or nausea
(gastrointestinal)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Chronic constipation
(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 surgery
Definitive surgical procedure to remove the aganglionic segment and restore bowel continuity by pulling the healthy colon through the rectum.
Additional treatment options
Clinical surveillance
Regular follow-up with gastroenterology and surgery teams to monitor for signs of disease progression and complications such as enterocolitis.
monitoringBowel management program
Combination of stool softeners, laxatives, and possibly rectal irrigation to manage constipation and prevent enterocolitis before surgical correction.
medicationHigh-fiber nutrition plan
Dietary modifications emphasizing fiber intake and adequate hydration to support bowel regularity and reduce constipation symptoms.
dietaryFamily counseling and education
Psychological support and education for families to understand the condition, manage stress, and prepare for surgical interventions.
psychologicalWhen 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 8 C1969482?
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.
Kenny SE, Tam PK. Guidelines for the management of Hirschsprung disease. Arch Dis Child. 2022.
Amiel J, Lyonnet S, Munnich A. Genetic basis of Hirschsprung disease susceptibility. Nat Rev Gastroenterol. 2019.
Badner JA, Chakravarti A, Watanabe MK. Susceptibility loci for Hirschsprung disease. Hum Mol Genet. 2018.
Heuckeroth RO, Schafer K. Understanding Hirschsprung disease genetics. Trends Neurosci. 2021.
Medication Comparisons
Compare medications used to treat Hirschsprung Disease Susceptibility To 8 C1969482. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy