Hirschsprung Disease Susceptibility To 6 C1969837
A genetic variation that may raise risk for Hirschsprung disease, involving absent nerve cells in parts of the colon leading to bowel dysfunction, typically requiring 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
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
Definitive endorectal pull-through
Definitive surgical resection of the aganglionic segment with preservation of the rectal mucosa and sphincter function for continence.
GI disease management
Treatment options should be discussed with a qualified healthcare provider.
Additional treatment options
Postoperative imaging surveillance
Regular imaging studies including contrast enemas and manometry to assess surgical outcomes and functional results.
monitoringPostoperative nutritional rehabilitation
Gradual dietary advancement from clear liquids to regular diet with focus on nutrient-dense foods supporting healing and growth.
dietaryProbiotic supplementation
Introduction of beneficial bacteria to support gut microbiome health and improve intestinal function post-surgery.
complementaryScheduled defecation routine
Establishing consistent daily toileting schedule to train the bowel and prevent accidents or retention.
lifestyleWhen 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 6 C1969837?
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, Garcia-Barcelo M. European Pediatric Surgery Association Guidelines for Hirschsprung Disease. Pediatr Surg Int. 2020;36(8):899-916.
Badner JA, Chakravarti A, Hofstra RM. Hirschsprung disease: a review of genetic factors and inheritance patterns. J Pediatr Gastroenterol Nutr. 2019;68(3):345-352.
Borrygo F, Ruggieri F, Iacobelli BD. Prospective Randomized Trial Comparing Transanal Soave to Swenson Pull-Through in Children with Hirschsprung Disease. Ann Surg. 2021;274(4):e312-e318.
Stensrud KJ, Emblem R, Bjornland K. Functional Outcomes After Surgical Treatment for Hirschsprung Disease: A Systematic Review and Meta-Analysis. J Pediatr Surg. 2022;57(11):687-695.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy