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HIRSCHSPRUNG DISEASE [2 records]
Record 1 - internal organization data 2019-12-05
Record 1, English
Record 1, Subject field(s)
- Human Diseases - Various
- Genetics
Record 1, Main entry term, English
- Mowat–Wilson syndrome
1, record 1, English, Mowat%26ndash%3BWilson%20syndrome
correct
Record 1, Abbreviations, English
- MWS 1, record 1, English, MWS
correct
Record 1, Synonyms, English
Record 1, Textual support, English
Record number: 1, Textual support number: 1 CONT
Mowat–Wilson syndrome(MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and congenital heart defects, caused by haploinsufficiency of the ZEB2 gene. 2, record 1, English, - Mowat%26ndash%3BWilson%20syndrome
Record 1, French
Record 1, Domaine(s)
- Maladies humaines diverses
- Génétique
Record 1, Main entry term, French
- syndrome de Mowat-Wilson
1, record 1, French, syndrome%20de%20Mowat%2DWilson
correct, masculine noun
Record 1, Abbreviations, French
- SMW 1, record 1, French, SMW
correct, masculine noun
Record 1, Synonyms, French
Record 1, Textual support, French
Record number: 1, Textual support number: 1 CONT
Le syndrome de Mowat-Wilson (SMW) est un syndrome congénital associant une dysmorphie faciale, une maladie de Hirschsprung, des anomalies urogénitales, des malformations cardiaques, une agénésie du corps calleux et des anomalies ophtalmologiques. [...] Le SMW est dû à des mutations ou délétions du gène ZEB2. 2, record 1, French, - syndrome%20de%20Mowat%2DWilson
Record 1, Spanish
Record 1, Textual support, Spanish
Record 2 - internal organization data 2013-06-19
Record 2, English
Record 2, Subject field(s)
- Human Diseases - Various
- Bowels
Record 2, Main entry term, English
- Hirschsprung disease
1, record 2, English, Hirschsprung%20disease
correct
Record 2, Abbreviations, English
Record 2, Synonyms, English
- Hirschsprung’s disease 2, record 2, English, Hirschsprung%26rsquo%3Bs%20disease
correct
- congenital megacolon 3, record 2, English, congenital%20megacolon
correct
- aganglionic megacolon 4, record 2, English, aganglionic%20megacolon
correct
- pelvirectal achalasia 5, record 2, English, pelvirectal%20achalasia
correct
- megacolon congenitum 6, record 2, English, megacolon%20congenitum
correct
Record 2, Textual support, English
Record number: 2, Textual support number: 1 DEF
The congenital absence of autonomic ganglia in the smooth muscle wall of the distal part of the colon, which causes poor or absent peristalsis in the involved segment of colon, accumulation of feces, and dilation of the bowel (megacolon). 7, record 2, English, - Hirschsprung%20disease
Record number: 2, Textual support number: 1 OBS
Symptoms include intermittent vomiting, diarrhea, and constipation. 7, record 2, English, - Hirschsprung%20disease
Record 2, French
Record 2, Domaine(s)
- Maladies humaines diverses
- Intestins
Record 2, Main entry term, French
- maladie de Hirschsprung
1, record 2, French, maladie%20de%20Hirschsprung
correct, feminine noun
Record 2, Abbreviations, French
Record 2, Synonyms, French
- mégacôlon congénital 1, record 2, French, m%C3%A9gac%C3%B4lon%20cong%C3%A9nital
correct, masculine noun
Record 2, Textual support, French
Record number: 2, Textual support number: 1 DEF
Dilatation du côlon, qui peut se manifester précocement, chez le nouveau-né, par une grave occlusion ou, plus tardivement, par la constipation et la distension abdominale. 2, record 2, French, - maladie%20de%20Hirschsprung
Record 2, Spanish
Record 2, Textual support, Spanish
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