loading...| Preferred Name |
Hirschsprung disease |
|
| Synonyms |
Congenital intestinal aganglionosis |
|
| Definitions |
A rare congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_388 |
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| alternative_term |
Congenital intestinal aganglionosis Colonic aganglionosis Aganglionic megacolon HSCR |
|
| definition |
A rare congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon. |
|
| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=388 |
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| has_age_of_onset |
Childhood Infancy Neonatal |
|
| has_inheritance |
Not applicable Multigenic/multifactorial Autosomal recessive Autosomal dominant |
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| hasDbXref |
OMIM:611644 OMIM:142623 OMIM:606875 OMIM:606874 OMIM:613712 OMIM:613711 OMIM:608462 OMIM:600155 OMIM:600156 MedDRA:10010539 ICD-10:Q43.1 UMLS:C0019569 MeSH:D006627 ICD-11:LB16.1 |
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| label |
Hirschsprung disease |
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| notation |
ORPHA:388 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_388 |
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| prefLabel |
Hirschsprung disease |
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| present_in |
United States AND has_birth_prevalence_average_value : 21.0 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_average_value : 13.2 AND has_point_prevalence_range : 1-5 / 10 000 Taiwan, Province of China AND has_birth_prevalence_average_value : 22.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_average_value : 15.0 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_birth_prevalence_average_value : 15.0 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 13.2 AND has_birth_prevalence_range : 1-5 / 10 000 |
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| treeView | ||
| subClassOf |