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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
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
Choledochal cysts: presentation, clinical differentiation, and management.
Soares KC, Arnaoutakis DJ, Kamel I, Rastegar N, Anders R, Maithel S, Pawlik TM
J Am Coll Surg 2014 Dec;219(6):1167-80. Epub 2014 Jun 27 doi: 10.1016/j.jamcollsurg.2014.04.023. PMID: 25442379Free 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
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
The stomach.
Quinn D, Shannon LF
Neonatal Netw 2000 Sep;19(6):41-4. doi: 10.1891/0730-0832.19.6.41. PMID: 11949119

Diagnosis

Intestinal Malrotation in the Adult.
Nguyen RK, Crouse RM, Talbot EA, Allard-Picou AK
Am Surg 2022 Jun;88(6):1367-1368. Epub 2020 Sep 9 doi: 10.1177/0003134820947406. PMID: 32902301
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
Late-Presenting Duodenal Web.
Zimmer V, Bergheim C
Clin Gastroenterol Hepatol 2020 Jan;18(1):A35. Epub 2018 Sep 7 doi: 10.1016/j.cgh.2018.08.072. PMID: 30196159
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

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
Complications and Quality of Life in Long-Term Survivors of Biliary Atresia with Their Native Livers.
Bessho K
J Pediatr 2015 Dec;167(6):1202-6. Epub 2015 Sep 15 doi: 10.1016/j.jpeds.2015.08.041. PMID: 26382628
Hirschsprung disease.
Dasgupta R, Langer JC
Curr Probl Surg 2004 Dec;41(12):942-88. doi: 10.1067/j.cpsurg.2004.09.004. PMID: 15614238

Prognosis

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
Biliary Atresia: Epidemiology, Genetics, Clinical Update, and Public Health Perspective.
Sanchez-Valle A, Kassira N, Varela VC, Radu SC, Paidas C, Kirby RS
Adv Pediatr 2017 Aug;64(1):285-305. doi: 10.1016/j.yapd.2017.03.012. PMID: 28688594
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
The stomach.
Quinn D, Shannon LF
Neonatal Netw 2000 Sep;19(6):41-4. doi: 10.1891/0730-0832.19.6.41. PMID: 11949119

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
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

Recent systematic reviews

A commentary on the article entitled 'Risk factors for Hirschsprung disease-associated enterocolitis: a systematic review and meta-analysis'.
Liang X
Int J Surg 2024 Jan 1;110(1):633-634. doi: 10.1097/JS9.0000000000000835. PMID: 37889590Free PMC Article
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
Systematic review of narrow-band imaging for the detection and differentiation of abnormalities in the esophagus and stomach (with video).
Curvers WL, van den Broek FJ, Reitsma JB, Dekker E, Bergman JJ
Gastrointest Endosc 2009 Feb;69(2):307-17. doi: 10.1016/j.gie.2008.09.048. PMID: 19185690

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