hirschsprung disease

Preferred Label : hirschsprung disease;

MeSH 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.;

MeSH synonym : hirschsprung's disease; congenital megacolon; hirschsprungs disease; disease, hirschsprung's; megacolon, congenital; disease, hirschsprung; megacolon, aganglionic; aganglionic megacolon;

CISMeF synonym : Hirschsprung;

MeSH hyponym : congenital intestinal aganglionosis; aganglionosis, rectosigmoid colon; aganglionosis, colonic; Rectosigmoid Colon Aganglionosis; Rectosigmoid Aganglionosis; Aganglionosis, Rectosigmoid; Colonic Aganglionosis; Total Colonic Aganglionosis; Aganglionosis, Total Colonic;

MeSH annotation : acquired megacolon MEGACOLON;

Wikipedia link : https://en.wikipedia.org/wiki/Hirschsprung's disease;

Details

Origin ID

D006627;

UMLS CUI

C0019569;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- AML Medical History Table [NCIt concept]
- Aganglionosis of colon (disorder) [SNOMED CT concept]
- Aganglionosis of large intestine (disorder) [SNOMED CT concept]
- EWS Medical History Table [NCIt concept]
- Hirschsprung disease [OMIM phenotypic series]
- Hirschsprung disease, susceptibility to, 1 [OMIM Phenotype]
- Hirschsprung's disease [DO Concept]
- Long segment Hirschsprung's disease (disorder) [SNOMED CT concept]
- Malignant hyperthermia, susceptibility to, 1 [OMIM Phenotype]
- Marshall Islands [NCIt concept]
- Medical History Domain [NCIt concept]
- Miao Chinese [NCIt concept]
- Short segment Hirschsprung's disease (disorder) [SNOMED CT concept]
- Total Colonic Aganglionosis [NCIt concept]
- Total colonic aganglionosis [HPO term]
- Total colonic aganglionosis (disorder) [SNOMED CT concept]
- colonic diseases [MedlinePlus Topic]
- congenital anomaly digestive system [ICPC-2 Rubric]
CISMeF manual mappings
- Macrocolon (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Aganglionic megacolon [HPO term]
- Aganglionic megacolon [MedDRA LLT]
- Congenital aganglionic megacolon (disorder) [SNOMED CT concept]
- Congenital dilatation of colon (disorder) [SNOMED CT concept]
- Congenital megacolon [MedDRA Preferred Term]
- Congenital megacolon (disorder) [Inactive SNOMED CT concept]
- Hirschsprung Disease [NCIt concept]
- Hirschsprung disease [PASCAL descriptor]
- Hirschsprung disease [ICD-11 Subcategory]
- Hirschsprung disease [Artificial nutrition thesaurus concept]
- Hirschsprung disease [ORDO Disease]
- Hirschsprung's disease [ICD-10 Sub-category]
- Hirschsprung's disease [MedDRA LLT]
- Hirschsprungs disease [ICD-10 Sub-category (who)]
- MEGACOLON CONGENITAL [WHO-ART Preferred Term]
- Megacolon congenital [MedDRA LLT]
- congenital aganglionosis of colon [Radlex concept]
- congenital megacolon [Disease (Nov.)]
- hirschsprung's disease [SNOMED Notion]
DO Cross reference
- Hirschsprung's disease [DO Concept]
HPO term
- Aganglionic megacolon [HPO term]
- Total colonic aganglionosis [HPO term]
Manual NTBT mappings (CISMeF)
- Non-syndromic intestinal malformation [ORDO Disease]
- Rare disease involving intestinal motility [ORDO Disease]
MeSH Descriptor(s) used for indexing
- megacolon [MeSH Descriptor]
ORDO relation(s)
- Hirschsprung disease [ORDO Disease]
Record concept(s)
- aganglionosis, colonic [MeSH concept]
- aganglionosis, rectosigmoid colon [MeSH concept]
- congenital intestinal aganglionosis [MeSH concept]
- hirschsprung disease [MeSH concept]
Related MeSH Supplementary Concept(s)
- Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia [MeSH Supplementary Concept]
- Goldberg-Shprintzen megacolon syndrome [MeSH Supplementary Concept]
- Mowat-Wilson syndrome [MeSH Supplementary Concept]
- aganglionosis, total intestinal [MeSH Supplementary Concept]
- al gazali hirschsprung syndrome [MeSH Supplementary Concept]
- cartilage hair hypoplasia like syndrome [MeSH Supplementary Concept]
- cartilage-hair hypoplasia [MeSH Supplementary Concept]
- hirschsprung disease 1 [MeSH Supplementary Concept]
- hirschsprung disease ganglioneuroblastoma [MeSH Supplementary Concept]
- hirschsprung disease polydactyly heart disease [MeSH Supplementary Concept]
- hirschsprung disease type 3 [MeSH Supplementary Concept]
- hirschsprung disease type d brachydactyly [MeSH Supplementary Concept]
- hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly [MeSH Supplementary Concept]
- hirschsprung disease with polydactyly, renal agenesis, and deafness [MeSH Supplementary Concept]
- hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect [MeSH Supplementary Concept]
- hirschsprung disease, cardiac defects, and autonomic dysfunction [MeSH Supplementary Concept]
- laurence prosser rocker syndrome [MeSH Supplementary Concept]
- peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease [MeSH Supplementary Concept]
- santos mateus leal syndrome [MeSH Supplementary Concept]
- waardenburg syndrome, type 4 [MeSH Supplementary Concept]
- waardenburg syndrome, type 4b [MeSH Supplementary Concept]
- waardenburg syndrome, type 4c [MeSH Supplementary Concept]
See also (suggested by CISMeF)
- megacolon [MeSH Descriptor]
- waardenburg syndrome [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aganglionic megacolon [MedDRA LLT]
- Aganglionic megacolon [HPO term]
- Aganglionosis [PASCAL descriptor]
- Aganglionosis [MedDRA LLT]
- Congenital aganglionic megacolon (disorder) [SNOMED CT concept]
- Congenital megacolon [MedDRA Preferred Term]
- Congenital megacolon (disorder) [Inactive SNOMED CT concept]
- Hirschsprung Disease [NCIt concept]
- Hirschsprung disease [ORDO Disease]
- Hirschsprung disease [PASCAL descriptor]
- Hirschsprung disease [ICD-11 Subcategory]
- Hirschsprung's disease [ICD-10 Sub-category]
- Hirschsprung's disease [DO Concept]
- Hirschsprung's disease [MedDRA LLT]
- Hirschsprungs disease [ICD-10 Sub-category (who)]
- MEGACOLON CONGENITAL [WHO-ART Preferred Term]
- Macrocolon (disorder) [SNOMED CT concept]
- Megacolon congenital [MedDRA LLT]
- Pelvirectal achalasia [MedDRA LLT]
- hirschsprung's disease [SNOMED Notion]

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