ICD-11

Any congenital defect of large intestine that results from interference with the normal growth and differentiation of the fetus. Such defects can arise at any stage of embryonic development, vary greatly in type and severity, and are caused by a wide variety of determining factors, including genetic mutations, chromosomal aberrations, teratogenic agents, and environmental factors. Most developmental defects are apparent at birth, especially any structural malformation, but some become evident later.

This is a developmental anomaly affecting the intestinal tract characterised by congenital absence of myenteric ganglion cells (aganglionosis) in a segment of the large bowel. Due to the absence of intrinsic innervation of the muscle layers of the affected segment, there is a loss of motor function. This results in an abnormally large or dilated colon (congenital megacolon) with intestinal occlusion or constipation. This condition becomes evident shortly after birth.

Hirschsprung disease is a developmental anomaly affecting the intestinal tract and is due to a developmental anomaly of the enteric nervous system. It is characterized by the absence of ganglial cells that are responsible for the intrinsic innervation of muscle layers in the terminal part of the intestine. It leads to occlusion in the lower part of the intestine or severe contispation. There is abnormally large or dilated colon (Congenital MEGACOLON) due to congenital absence of myenteric ganglion cells (aganglionosis) 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. In most cases, the aganglionic segment is within the RECTUM and SIGMOID COLON.