"Hirschsprung Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D006627
|
| MeSH Number(s) |
C06.198.439 C06.405.469.158.701.439 C16.131.314.439
|
| Concept/Terms |
Hirschsprung Disease- Hirschsprung Disease
- Disease, Hirschsprung
- Megacolon, Congenital
- Hirschsprung's Disease
- Disease, Hirschsprung's
- Hirschsprungs Disease
- Megacolon, Aganglionic
- Aganglionic Megacolon
- Congenital Megacolon
Aganglionosis, Colonic- Aganglionosis, Colonic
- Colonic Aganglionosis
- Total Colonic Aganglionosis
- Aganglionosis, Total Colonic
|
Below are MeSH descriptors whose meaning is more general than "Hirschsprung Disease".
Below are MeSH descriptors whose meaning is more specific than "Hirschsprung Disease".
This graph shows the total number of publications written about "Hirschsprung Disease" by people in this website by year, and whether "Hirschsprung Disease" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1996 | 0 | 1 | 1 |
| 2006 | 0 | 2 | 2 |
| 2009 | 0 | 1 | 1 |
| 2011 | 1 | 0 | 1 |
| 2012 | 1 | 0 | 1 |
| 2016 | 1 | 0 | 1 |
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Below are the most recent publications written about "Hirschsprung Disease" by people in Profiles.
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Spectrum of Clinicopathological Deviations in Long-Segment Hirschsprung Disease Compared With Short-Segment Hirschsprung Disease: A Single-Institution Study. Int J Surg Pathol. 2017 May; 25(3):216-221.
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A triple threat: Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease. Pediatrics. 2012 Nov; 130(5):e1382-4.
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Variable human phenotype associated with novel deletions of the PHOX2B gene. Pediatr Pulmonol. 2012 Feb; 47(2):153-61.
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Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine. Pediatr Pulmonol. 2009 Jun; 44(6):521-35.
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Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. Am J Respir Crit Care Med. 2006 Nov 15; 174(10):1139-44.
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Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome. Pediatrics. 2006 Aug; 118(2):e408-14.
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Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome. Nat Genet. 1996 Aug; 13(4):395-6.
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Congenital central hypoventilation syndrome: inheritance and relation to sudden infant death syndrome. Am J Med Genet. 1993 Sep 01; 47(3):360-7.
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A genetic study of Hirschsprung disease. Am J Hum Genet. 1990 Mar; 46(3):568-80.
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Waardenburg syndrome and Hirschsprung disease: evidence for pleiotropic effects of a single dominant gene. Am J Med Genet. 1990 Jan; 35(1):100-4.