717822006: Goldberg Shprintzen megacolon syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Bowel finding\...

\Finding of large intestine\Disorder of large intestine\...

\Motility disorder of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome

\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome

\Intestinal disease\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Intestinal disease\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Intestinal disease\Disorder of large intestine\Motility disorder of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Intestinal disease\Disorder of large intestine\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Intestinal disease\Dilatation of intestine\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Intestinal disease\Functional disorder of intestine\Motility disorder of intestine\Motility disorder of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Intestinal disease\Intestinal autonomic neuropathy\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome

\Digestive system finding\Gastrointestinal tract finding\Bowel finding\Finding of large intestine\Disorder of large intestine\Motility disorder of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Gastrointestinal tract finding\Bowel finding\Finding of large intestine\Disorder of large intestine\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Gastrointestinal tract finding\Bowel finding\Intestinal disease\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Gastrointestinal tract finding\Bowel finding\Intestinal disease\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Gastrointestinal tract finding\Bowel finding\Intestinal disease\Disorder of large intestine\Motility disorder of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Gastrointestinal tract finding\Bowel finding\Intestinal disease\Disorder of large intestine\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Gastrointestinal tract finding\Bowel finding\Intestinal disease\Dilatation of intestine\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Gastrointestinal tract finding\Bowel finding\Intestinal disease\Functional disorder of intestine\Motility disorder of intestine\Motility disorder of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Gastrointestinal tract finding\Bowel finding\Intestinal disease\Intestinal autonomic neuropathy\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Dilatation of gastrointestinal tract\Dilatation of intestine\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Disorder of large intestine\Motility disorder of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Disorder of large intestine\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Dilatation of intestine\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Functional disorder of intestine\Motility disorder of intestine\Motility disorder of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Intestinal autonomic neuropathy\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Dilatation of gastrointestinal tract\Dilatation of intestine\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Disorder of large intestine\Motility disorder of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Disorder of large intestine\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Dilatation of intestine\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Functional disorder of intestine\Motility disorder of intestine\Motility disorder of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Intestinal autonomic neuropathy\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Disorder of large intestine\Motility disorder of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Disorder of large intestine\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Dilatation of intestine\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Functional disorder of intestine\Motility disorder of intestine\Motility disorder of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Intestinal autonomic neuropathy\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Goldberg Shprintzen megacolon syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Disorder of large intestine\Motility disorder of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Disorder of large intestine\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Dilatation of intestine\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Functional disorder of intestine\Motility disorder of intestine\Motility disorder of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Intestinal autonomic neuropathy\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Bowel finding\Finding of large intestine\Disorder of large intestine\Motility disorder of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Bowel finding\Finding of large intestine\Disorder of large intestine\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Bowel finding\Intestinal disease\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Bowel finding\Intestinal disease\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Bowel finding\Intestinal disease\Disorder of large intestine\Motility disorder of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Bowel finding\Intestinal disease\Disorder of large intestine\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Bowel finding\Intestinal disease\Dilatation of intestine\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Bowel finding\Intestinal disease\Functional disorder of intestine\Motility disorder of intestine\Motility disorder of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Bowel finding\Intestinal disease\Intestinal autonomic neuropathy\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Disorder of large intestine\Motility disorder of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Disorder of large intestine\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Dilatation of intestine\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Functional disorder of intestine\Motility disorder of intestine\Motility disorder of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Intestinal autonomic neuropathy\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of lower gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of lower gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Disorder of large intestine\Motility disorder of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Disorder of large intestine\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Dilatation of intestine\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Functional disorder of intestine\Motility disorder of intestine\Motility disorder of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Intestinal autonomic neuropathy\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome

\Finding of head and neck region\Head finding\...

\Finding of head circumference\Microcephaly\Congenital microcephaly\Goldberg Shprintzen megacolon syndrome

\Finding of head region\Orofacial cleft\Cleft palate\Goldberg Shprintzen megacolon syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Goldberg Shprintzen megacolon syndrome
\Finding of head region\Palate finding\Disorder of palate\Congenital anomaly of palate\Cleft palate\Goldberg Shprintzen megacolon syndrome

\Disorder of head\Disorder of palate\Congenital anomaly of palate\Cleft palate\Goldberg Shprintzen megacolon syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Goldberg Shprintzen megacolon syndrome
\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Goldberg Shprintzen megacolon syndrome
\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Goldberg Shprintzen megacolon syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Goldberg Shprintzen megacolon syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Goldberg Shprintzen megacolon syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Goldberg Shprintzen megacolon syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Goldberg Shprintzen megacolon syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Goldberg Shprintzen megacolon syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Goldberg Shprintzen megacolon syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder\Goldberg Shprintzen megacolon syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Goldberg Shprintzen megacolon syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Goldberg Shprintzen megacolon syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Autonomic neuropathy\Intestinal autonomic neuropathy\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital malformation of autonomic nervous system\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of the peripheral nervous system\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Disorder of peripheral autonomic nervous system\Intestinal autonomic neuropathy\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Congenital anomaly of the peripheral nervous system\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of autonomic nervous system\Inherited autonomic nervous system disorder\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of autonomic nervous system\Congenital malformation of autonomic nervous system\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of autonomic nervous system\Autonomic neuropathy\Intestinal autonomic neuropathy\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of autonomic nervous system\Disorder of peripheral autonomic nervous system\Intestinal autonomic neuropathy\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Dilatation of gastrointestinal tract\Dilatation of intestine\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Disorder of large intestine\Motility disorder of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Disorder of large intestine\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Dilatation of intestine\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Functional disorder of intestine\Motility disorder of intestine\Motility disorder of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Intestinal autonomic neuropathy\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Disorder of large intestine\Motility disorder of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Disorder of large intestine\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Dilatation of intestine\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Functional disorder of intestine\Motility disorder of intestine\Motility disorder of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Intestinal autonomic neuropathy\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Disorder of large intestine\Motility disorder of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Disorder of large intestine\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Dilatation of intestine\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Functional disorder of intestine\Motility disorder of intestine\Motility disorder of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Intestinal autonomic neuropathy\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of head\Disorder of palate\Congenital anomaly of palate\Cleft palate\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Goldberg Shprintzen megacolon syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Goldberg Shprintzen megacolon syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Goldberg Shprintzen megacolon syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital malformation of autonomic nervous system\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of the peripheral nervous system\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Goldberg Shprintzen megacolon syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Goldberg Shprintzen megacolon syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Goldberg Shprintzen megacolon syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Goldberg Shprintzen megacolon syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Goldberg Shprintzen megacolon syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Goldberg Shprintzen megacolon syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Goldberg Shprintzen megacolon syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital malformation of autonomic nervous system\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of the peripheral nervous system\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Goldberg Shprintzen megacolon syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Goldberg Shprintzen megacolon syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Goldberg Shprintzen megacolon syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Goldberg Shprintzen megacolon syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Goldberg Shprintzen megacolon syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3323624014 Goldberg Shprintzen megacolon syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3323626011 Goldberg Shprintzen megacolon syndrome en Synonym Active Case sensitive SNOMED CT core

3323627019 Megacolon microcephaly syndrome en Synonym Active Case insensitive SNOMED CT core

3323628012 A multiple malformation syndrome with characteristics of Hirschprung megacolon and microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability. It has been described in about 10 patients, boys and girls. Some of the reported cases also had iris coloboma, hypotonia, and ptosis. Inherited as an autosomal recessive trait and was found to be caused by mutations in KIAA1279 on chromosome 10q21.3-q22.1. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Goldberg Shprintzen megacolon syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Goldberg Shprintzen megacolon syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Goldberg Shprintzen megacolon syndrome	Occurrence	Congenital	true	Inferred relationship	Some	5
Goldberg Shprintzen megacolon syndrome	Finding site	Large intestine part	true	Inferred relationship	Some	5
Goldberg Shprintzen megacolon syndrome	Finding site	Large intestine part	true	Inferred relationship	Some	4
Goldberg Shprintzen megacolon syndrome	Finding site	Brain structure	false	Inferred relationship	Some	3
Goldberg Shprintzen megacolon syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	5
Goldberg Shprintzen megacolon syndrome	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	4
Goldberg Shprintzen megacolon syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Goldberg Shprintzen megacolon syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Goldberg Shprintzen megacolon syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Goldberg Shprintzen megacolon syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	3
Goldberg Shprintzen megacolon syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Goldberg Shprintzen megacolon syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Goldberg Shprintzen megacolon syndrome	Finding site	Palatal structure	true	Inferred relationship	Some	2
Goldberg Shprintzen megacolon syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
Goldberg Shprintzen megacolon syndrome	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Some	2
Goldberg Shprintzen megacolon syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Goldberg Shprintzen megacolon syndrome	Associated morphology	Hypertrophy	true	Inferred relationship	Some	5
Goldberg Shprintzen megacolon syndrome	Associated morphology	Dilatation	true	Inferred relationship	Some	4
Goldberg Shprintzen megacolon syndrome	Occurrence	Congenital	true	Inferred relationship	Some	6
Goldberg Shprintzen megacolon syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	6
Goldberg Shprintzen megacolon syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	6
Goldberg Shprintzen megacolon syndrome	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Goldberg Shprintzen megacolon syndrome	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Some	7
Goldberg Shprintzen megacolon syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	7
Goldberg Shprintzen megacolon syndrome	Finding site	Bone structure of head	false	Inferred relationship	Some	7
Goldberg Shprintzen megacolon syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Goldberg Shprintzen megacolon syndrome	Finding site	Structure of peripheral part of autonomic nervous system	true	Inferred relationship	Some	8
Goldberg Shprintzen megacolon syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	8
Goldberg Shprintzen megacolon syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	8
Goldberg Shprintzen megacolon syndrome	Is a	Congenital microcephaly	true	Inferred relationship	Some
Goldberg Shprintzen megacolon syndrome	Finding site	Structure of head	true	Inferred relationship	Some	3
Goldberg Shprintzen megacolon syndrome	Interprets	Birth head circumference	true	Inferred relationship	Some	7
Goldberg Shprintzen megacolon syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	7
Goldberg Shprintzen megacolon syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	9
Goldberg Shprintzen megacolon syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	9
Goldberg Shprintzen megacolon syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	10
Goldberg Shprintzen megacolon syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	10
Goldberg Shprintzen megacolon syndrome	Is a	Microcephalus	false	Inferred relationship	Some
Goldberg Shprintzen megacolon syndrome	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Goldberg Shprintzen megacolon syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Goldberg Shprintzen megacolon syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Goldberg Shprintzen megacolon syndrome	Is a	Cleft palate	true	Inferred relationship	Some
Goldberg Shprintzen megacolon syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Goldberg Shprintzen megacolon syndrome	Is a	Hirschsprung's disease	true	Inferred relationship	Some
Goldberg Shprintzen megacolon syndrome	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
Goldberg Shprintzen megacolon syndrome	Finding site	Parasympathetic nervous system structure	false	Inferred relationship	Some
Goldberg Shprintzen megacolon syndrome	Finding site	Autonomic nerve structure	true	Inferred relationship	Some	6
Goldberg Shprintzen megacolon syndrome	Occurrence	Congenital	true	Inferred relationship	Some	8
Goldberg Shprintzen megacolon syndrome	Occurrence	Congenital	false	Inferred relationship	Some	9
Goldberg Shprintzen megacolon syndrome	Occurrence	Congenital	false	Inferred relationship	Some	10
Goldberg Shprintzen megacolon syndrome	Occurrence	Congenital	false	Inferred relationship	Some	11
Goldberg Shprintzen megacolon syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	9
Goldberg Shprintzen megacolon syndrome	Finding site	Face structure	false	Inferred relationship	Some	9
Goldberg Shprintzen megacolon syndrome	Associated morphology	Congenital hypertrophy	false	Inferred relationship	Some	10
Goldberg Shprintzen megacolon syndrome	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	11
Goldberg Shprintzen megacolon syndrome	Finding site	Palatal structure	false	Inferred relationship	Some	11
Goldberg Shprintzen megacolon syndrome	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	8
Goldberg Shprintzen megacolon syndrome	Is a	Inherited autonomic nervous system disorder	true	Inferred relationship	Some
Goldberg Shprintzen megacolon syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Some	7
Goldberg Shprintzen megacolon syndrome	Occurrence	Congenital	false	Inferred relationship	Some	7
Goldberg Shprintzen megacolon syndrome	Finding site	Brain structure	false	Inferred relationship	Some	7
Goldberg Shprintzen megacolon syndrome	Finding site	Large intestine part	false	Inferred relationship	Some	8
Goldberg Shprintzen megacolon syndrome	Finding site	Large intestine part	false	Inferred relationship	Some	10
Goldberg Shprintzen megacolon syndrome	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Some	1
Goldberg Shprintzen megacolon syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Goldberg Shprintzen megacolon syndrome	Finding site	Palatal structure	false	Inferred relationship	Some	1
Goldberg Shprintzen megacolon syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
3323624014	Goldberg Shprintzen megacolon syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3323626011	Goldberg Shprintzen megacolon syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3323627019	Megacolon microcephaly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3323628012	A multiple malformation syndrome with characteristics of Hirschprung megacolon and microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability. It has been described in about 10 patients, boys and girls. Some of the reported cases also had iris coloboma, hypotonia, and ptosis. Inherited as an autosomal recessive trait and was found to be caused by mutations in KIAA1279 on chromosome 10q21.3-q22.1.	en	Definition	Active	Case sensitive	SNOMED CT core