Hirschsprung Disease (definition)

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Hirschsprung Disease

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Definition: 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.

acquired megacolon

Other names Megacolon, Congenital; Colonic Aganglionosis; Aganglionosis, Colonic; Aganglionosis, Total Colonic; Aganglionosis, Rectosigmoid Colon; Rectosigmoid Colon Aganglionosis; Hirschsprungs Disease; Disease, Hirschsprung's; Disease, Hirschsprung; Aganglionosis, Rectosigmoid; Total Colonic Aganglionosis; Rectosigmoid Aganglionosis; Hirschsprung's Disease; Congenital Megacolon

Substance	CAS Registry & name	Categories	Source
Hirschsprung disease 1	0	*Hirschsprung Disease.
Hirschsprung disease type d brachydactyly	0	Hirschsprung Disease Brachydactyly.
Hirschsprung disease type 3	0	*Hirschsprung Disease.
Hirschsprung disease polydactyly heart disease	0	Hirschsprung Disease Polydactyly.
Hirschsprung disease ganglioneuroblastoma	0	Hirschsprung Disease Ganglioneuroblastoma.
Aganglionosis, total intestinal	0	*Hirschsprung Disease.
Laurence Prosser Rocker syndrome	0	Heart Septal Defects, Ventricular Hirschsprung Disease *Polydactyly.
Goldberg-Shprintzen megacolon syndrome	0	Hirschsprung Disease Craniofacial Abnormalities.
Santos Mateus Leal syndrome	0	Hearing Loss, Central Hirschsprung Disease Hypertelorism Polydactyly.
Mowat-Wilson syndrome	0	Hirschsprung Disease Facies Intellectual Disability Microcephaly.
Cartilage-hair hypoplasia	0	Hirschsprung Disease Immunologic Deficiency Syndromes *Osteochondrodysplasias/congenital Hair/abnormalities.
Cartilage hair hypoplasia like syndrome	0	Hirschsprung Disease Immunologic Deficiency Syndromes *Osteochondrodysplasias/congenital Hair/abnormalities.
Al Gazali Hirschsprung syndrome	0	Hirschsprung Disease Nail Diseases *Facies.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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