• A congenital disorder characterized by the absence of myenteric ganglion cells in the distal colon. It results in a functional stenosis of the distal colon and a massive distention of the proximal colon.
  NCI Thesaurus
  U.S. National Cancer Institute, 2021
• (congenital megacolon) Abnormally large or dilated colon due to congenital absence of myenteric ganglion cells in a distal segment of the large bowel; resultant loss of motor function in this segment causes massive hypertrophic dilatation of the normal proximal colon; condition appears soon after birth; called also Hirschsprung's disease, aganglionic megacolon and pelvirectal achalasia.
  CRISP Thesaurus
  National Institutes of Health, 2006
• Congenital MEGACOLON resulting from the absence of ganglion cells (aganglionosis) in a distal segment of the LARGE INTESTINE. The aganglionic segment is permanently contracted thus causing dilatation proximal to it. In most cases, the aganglionic segment is within the RECTUM and SIGMOID COLON.
  NLM Medical Subject Headings
  U.S. National Library of Medicine, 2021
• (aganglionic megacolon) An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
  Human Phenotype Ontology (HPO)
  The Human Phenotype Ontology Project, 2021
• Hirschsprung disease is a congenital anomaly of innervation of the lower intestine, usually limited to the colon, resulting in partial or total functional obstruction. Symptoms are obstipation and distention. Diagnosis is by barium enema and rectal biopsy. Anal manometry can help in the evaluation and reveals lack of relaxation of the...
  Merck Manuals
  Merck & Co., Inc., 2020
• Hirschsprung disease is a developmental disorder characterized by absence of ganglia in the distal colon, resulting in a functional obstruction. See the image below.
  Medscape
  WebMD, 2019
• Hirschsprung's (HIRSH-sproongz) disease is a condition that affects the large intestine (colon) and causes problems with passing stool. The condition is present at birth (congenital) as a result of missing nerve cells in the muscles of the baby's colon.
  Mayo Clinic
  Mayo Foundation for Medical Education and Research
• Hirschsprung disease (HSCR) is a disease of the large intestine or colon. People with this disease do not have the nerve cells in the intestine required to pass stools from the body normally. Symptoms of Hirschsprung disease usually start in very young children, but may occur later. The symptoms may vary with age, but often involve...
  NIH Genetic and Rare Diseases
  National Center for Advancing Translational Sciences
• A congenital condition characterized by partial or complete colonic functional obstruction associated with the absence of ganglion cells. Because of the aganglionosis, the lumen is tonically contracted, causing a functional obstruction. The aganglionic portion of the colon is always located distally, but the length of the segment varies....
  Epocrates
  Athenahealth, Inc., 2019