"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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click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2016 | 1 | 0 | 1 |
| 2018 | 6 | 0 | 6 |
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Below are the most recent publications written about "Hirschsprung Disease" by people in Profiles.
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Identification of Genes Associated With Hirschsprung Disease, Based on Whole-Genome Sequence Analysis, and Potential Effects on Enteric Nervous System Development. Gastroenterology. 2018 12; 155(6):1908-1922.e5.
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NRG1 variant effects in patients with Hirschsprung disease. BMC Pediatr. 2018 09 04; 18(1):292.
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GT-repeat extension in the IL11 promoter is associated with Hirschsprung's disease (HSCR). Gene. 2018 Nov 30; 677:163-168.
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Cartilage hair hypoplasia with cutaneous lymphomatoid granulomatosis. Clin Exp Dermatol. 2018 Aug; 43(6):713-717.
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A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel SOX10 mutation. Am J Med Genet A. 2018 05; 176(5):1195-1199.
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Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care. Genet Med. 2018 09; 20(9):965-975.
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Role of MiR-215 in Hirschsprung's Disease Pathogenesis by Targeting SIGLEC-8. Cell Physiol Biochem. 2016; 40(6):1646-1655.