What is the standard format for writing Hirschsprung disease as a diagnosis?

Standard Format for Writing Hirschsprung Disease as a Diagnosis

Hirschsprung disease (HSCR) should be written as the primary diagnosis, followed by specification of the extent of aganglionosis (short-segment, long-segment, or total colonic aganglionosis), and any associated syndromes or complications.

Core Diagnostic Components

Primary Diagnosis Format

• Write "Hirschsprung disease" or use the abbreviation "HSCR" after first mention 1
• The disease is characterized by absence of ganglion cells in the myenteric and submucosal plexuses of the intestine 1

Specify Extent of Disease

• Short-segment HSCR: Aganglionosis limited to the rectosigmoid region (most common presentation) 1, 2
• Long-segment HSCR: Aganglionosis extending proximal to the sigmoid colon 2
• Total colonic aganglionosis (TCA): Absence of ganglion cells throughout the entire colon 2

Document Associated Conditions

• Include any associated syndromes in the diagnosis, as multiple conditions are linked with HSCR 1:
  • Trisomy 21 (Down syndrome) 1
  • Mowat-Wilson syndrome 1
  • Congenital central hypoventilation syndrome (CCHS) 3, 1
  • Shah-Waardenburg syndrome 1
  • Cartilage-hair hypoplasia 1

Include Complications When Present

• Hirschsprung-associated enterocolitis (HAEC): Document if present, as this inflammatory complication significantly impacts morbidity and mortality 2, 4
• Specify timing: pre-operative or post-operative HAEC 4
• Note severity using HAEC scoring system when applicable 2

Example Diagnostic Statements

Standard Format Examples

• "Hirschsprung disease, long-segment type" 2
• "Hirschsprung disease with total colonic aganglionosis" 2
• "Hirschsprung disease, short-segment, with associated trisomy 21" 1
• "Hirschsprung disease complicated by enterocolitis" 4

Age-Specific Considerations

• For neonatal presentation: Include typical presenting features such as delayed meconium passage beyond 24 hours, abdominal distension, and vomiting 1
• For adult-onset diagnosis (rare): Specify "adult-onset Hirschsprung disease" or "Hirschsprung disease with adult presentation" 5

Genetic Documentation

• When genetic testing is performed, include the specific gene mutation identified 1:
  • RET proto-oncogene mutations (most common) 1
  • EDNRB mutations 1
• Document as: "Hirschsprung disease with RET gene mutation" 1

Post-Surgical Documentation

• After definitive surgery, specify the procedure performed 2:
  • Duhamel procedure 2
  • Soave procedure 1
  • Swenson procedure 1
  • Martin procedure 2
  • Transanal endorectal pull-through 2
• Example: "Status post Duhamel pull-through for long-segment Hirschsprung disease" 2

Common Pitfalls to Avoid

• Do not use vague terms like "functional obstruction" without specifying HSCR as the underlying diagnosis 6
• Always specify the extent of aganglionosis when known, as this impacts prognosis and surgical planning 2
• Document the presence of enterocolitis separately, as it requires specific management and affects outcomes 4
• For adult presentations, do not assume short-segment disease—confirm extent with appropriate diagnostic studies 5