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Abnormality of the digestive system

MedGen UID:
78584
•Concept ID:
C0266015
•
Congenital Abnormality
Synonyms: Abnormalities, Digestive System; Abnormality, Digestive System; Digestive System Abnormalities; Digestive System Abnormality
SNOMED CT: Congenital anomaly of digestive system (69518005); Congenital deformity of digestive system (69518005); Congenital malformation of the digestive system (69518005)
 
HPO: HP:0025031

Definition

Congenital structural abnormalities of the DIGESTIVE SYSTEM. [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of the digestive system

Professional guidelines

PubMed

Diagnosis and management of choledochal cysts.
Brown ZJ, Baghdadi A, Kamel I, Labiner HE, Hewitt DB, Pawlik TM
HPB (Oxford) 2023 Jan;25(1):14-25. Epub 2022 Oct 5 doi: 10.1016/j.hpb.2022.09.010. PMID: 36257874
Neonatal Cholestasis: Updates on Diagnostics, Therapeutics, and Prevention.
Feldman AG, Sokol RJ
Neoreviews 2021 Dec 1;22(12):e819-e836. doi: 10.1542/neo.22-12-e819. PMID: 34850148Free PMC Article
AGA Clinical Practice Update on the Diagnosis and Management of Atrophic Gastritis: Expert Review.
Shah SC, Piazuelo MB, Kuipers EJ, Li D
Gastroenterology 2021 Oct;161(4):1325-1332.e7. Epub 2021 Aug 26 doi: 10.1053/j.gastro.2021.06.078. PMID: 34454714Free PMC Article

Recent clinical studies

Etiology

Congenital Hepatopulmonary Fusion.
Rocha GMD
Eur J Pediatr Surg 2022 Dec;32(6):477-496. Epub 2022 Aug 26 doi: 10.1055/s-0042-1749213. PMID: 36027900
Treatment of Congenital Microgastria.
Ruczynski LIA, Botden SMBI, Daniels-Scharbatke HE, Schurink M, de Blaauw I
Eur J Pediatr Surg 2021 Apr;31(2):129-134. Epub 2020 May 18 doi: 10.1055/s-0040-1710027. PMID: 32422678
Identification and management of pancreas divisum.
Gutta A, Fogel E, Sherman S
Expert Rev Gastroenterol Hepatol 2019 Nov;13(11):1089-1105. Epub 2019 Nov 8 doi: 10.1080/17474124.2019.1685871. PMID: 31663403Free PMC Article
Hirschsprung's disease.
Kenny SE, Tam PK, Garcia-Barcelo M
Semin Pediatr Surg 2010 Aug;19(3):194-200. doi: 10.1053/j.sempedsurg.2010.03.004. PMID: 20610192
Oesophageal atresia.
Spitz L
Orphanet J Rare Dis 2007 May 11;2:24. doi: 10.1186/1750-1172-2-24. PMID: 17498283Free PMC Article

Diagnosis

Congenital Myenteric Hypoganglionosis.
Kapur RP, Bellizzi AM, Bond S, Chen H, Han JS, LeGallo RD, Midgen C, Poulin AA, Uddin N, Warren M, Velázquez Vega JE, Zuppan CW
Am J Surg Pathol 2021 Aug 1;45(8):1047-1060. doi: 10.1097/PAS.0000000000001670. PMID: 33492848
Identification and management of pancreas divisum.
Gutta A, Fogel E, Sherman S
Expert Rev Gastroenterol Hepatol 2019 Nov;13(11):1089-1105. Epub 2019 Nov 8 doi: 10.1080/17474124.2019.1685871. PMID: 31663403Free PMC Article
Hirschsprung's disease.
Kenny SE, Tam PK, Garcia-Barcelo M
Semin Pediatr Surg 2010 Aug;19(3):194-200. doi: 10.1053/j.sempedsurg.2010.03.004. PMID: 20610192
Permanent intestinal failure.
Goulet O, Fusaro F, Lacaille F, Sauvat F
Indian Pediatr 2008 Sep;45(9):753-63. PMID: 18820382
Anorectal malformations.
Levitt MA, Peña A
Orphanet J Rare Dis 2007 Jul 26;2:33. doi: 10.1186/1750-1172-2-33. PMID: 17651510Free PMC Article

Therapy

Prenatal detection of esophageal atresia: A systematic review and meta-analysis.
Pardy C, D'Antonio F, Khalil A, Giuliani S
Acta Obstet Gynecol Scand 2019 Jun;98(6):689-699. Epub 2019 Mar 6 doi: 10.1111/aogs.13536. PMID: 30659586
ESPGHAN-NASPGHAN Guidelines for the Evaluation and Treatment of Gastrointestinal and Nutritional Complications in Children With Esophageal Atresia-Tracheoesophageal Fistula.
Krishnan U, Mousa H, Dall'Oglio L, Homaira N, Rosen R, Faure C, Gottrand F
J Pediatr Gastroenterol Nutr 2016 Nov;63(5):550-570. doi: 10.1097/MPG.0000000000001401. PMID: 27579697
Biliary atresia: A comprehensive review.
Lakshminarayanan B, Davenport M
J Autoimmun 2016 Sep;73:1-9. Epub 2016 Jun 23 doi: 10.1016/j.jaut.2016.06.005. PMID: 27346637
Biliary atresia.
Davenport M
Semin Pediatr Surg 2005 Feb;14(1):42-8. doi: 10.1053/j.sempedsurg.2004.10.024. PMID: 15770587
Biliary atresia.
Nio M, Ohi R
Semin Pediatr Surg 2000 Nov;9(4):177-86. doi: 10.1053/spsu.2000.18846. PMID: 11112835

Prognosis

Congenital anomalies of the tubular gastrointestinal tract.
Ludwig K, De Bartolo D, Salerno A, Ingravallo G, Cazzato G, Giacometti C, Dall'Igna P
Pathologica 2022 Feb;114(1):40-54. doi: 10.32074/1591-951X-553. PMID: 35212315Free PMC Article
Identification and management of pancreas divisum.
Gutta A, Fogel E, Sherman S
Expert Rev Gastroenterol Hepatol 2019 Nov;13(11):1089-1105. Epub 2019 Nov 8 doi: 10.1080/17474124.2019.1685871. PMID: 31663403Free PMC Article
Pancreas divisum.
DiMagno MJ, Wamsteker EJ
Curr Gastroenterol Rep 2011 Apr;13(2):150-6. doi: 10.1007/s11894-010-0170-8. PMID: 21222060Free PMC Article
Hirschsprung's disease.
Kenny SE, Tam PK, Garcia-Barcelo M
Semin Pediatr Surg 2010 Aug;19(3):194-200. doi: 10.1053/j.sempedsurg.2010.03.004. PMID: 20610192
Anorectal malformations.
Levitt MA, Peña A
Orphanet J Rare Dis 2007 Jul 26;2:33. doi: 10.1186/1750-1172-2-33. PMID: 17651510Free PMC Article

Clinical prediction guides

Currarino syndrome: a comprehensive genetic review of a rare congenital disorder.
Dworschak GC, Reutter HM, Ludwig M
Orphanet J Rare Dis 2021 Apr 9;16(1):167. doi: 10.1186/s13023-021-01799-0. PMID: 33836786Free PMC Article
Diagnostic Yield of Newborn Screening for Biliary Atresia Using Direct or Conjugated Bilirubin Measurements.
Harpavat S, Garcia-Prats JA, Anaya C, Brandt ML, Lupo PJ, Finegold MJ, Obuobi A, ElHennawy AA, Jarriel WS, Shneider BL
JAMA 2020 Mar 24;323(12):1141-1150. doi: 10.1001/jama.2020.0837. PMID: 32207797Free PMC Article
Diagnosis of Hirschsprung Disease.
Ambartsumyan L, Smith C, Kapur RP
Pediatr Dev Pathol 2020 Jan-Feb;23(1):8-22. Epub 2019 Dec 2 doi: 10.1177/1093526619892351. PMID: 31791203
Identification and management of pancreas divisum.
Gutta A, Fogel E, Sherman S
Expert Rev Gastroenterol Hepatol 2019 Nov;13(11):1089-1105. Epub 2019 Nov 8 doi: 10.1080/17474124.2019.1685871. PMID: 31663403Free PMC Article
Pancreas divisum.
DiMagno MJ, Wamsteker EJ
Curr Gastroenterol Rep 2011 Apr;13(2):150-6. doi: 10.1007/s11894-010-0170-8. PMID: 21222060Free PMC Article

Recent systematic reviews

Systematic appraisal of the guidelines for the diagnosis and treatment of Hirschsprung's disease.
Gong YY, Lv JJ, Yang T, Huang XZ, Zhang L, Wu JH, Cen YY, Sun DL
Pediatr Surg Int 2022 Sep;38(9):1197-1208. Epub 2022 Jul 22 doi: 10.1007/s00383-022-05151-w. PMID: 35867125
Systematic review: The quality of life of patients with biliary atresia.
Le M, Reinshagen K, Tomuschat C
J Pediatr Surg 2022 Dec;57(12):934-946. Epub 2022 Mar 21 doi: 10.1016/j.jpedsurg.2022.03.013. PMID: 35428492
Prenatal detection of esophageal atresia: A systematic review and meta-analysis.
Pardy C, D'Antonio F, Khalil A, Giuliani S
Acta Obstet Gynecol Scand 2019 Jun;98(6):689-699. Epub 2019 Mar 6 doi: 10.1111/aogs.13536. PMID: 30659586
Systematic review of epidemiology, presentation, and management of Meckel's diverticulum in the 21st century.
Hansen CC, Søreide K
Medicine (Baltimore) 2018 Aug;97(35):e12154. doi: 10.1097/MD.0000000000012154. PMID: 30170459Free PMC Article
Meckel's diverticulum-Revisited.
Malik AA; Shams-ul-Bari, Wani KA, Khaja AR
Saudi J Gastroenterol 2010 Jan-Mar;16(1):3-7. doi: 10.4103/1319-3767.58760. PMID: 20065566Free PMC Article

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