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Congenital malformation of the urinary system

MedGen UID:
472904
•Concept ID:
C0158698
•
Congenital Abnormality
Synonyms: Congenital Abnormality of the Urinary System; Congenital abnormality of urinary system; Congenital anomaly of the urinary system; Congenital anomaly of the urinary tract; Congenital anomaly of the urinary tract proper; Congenital deformity of the urinary tract; Congenital Urinary System Abnormality
SNOMED CT: Congenital anomaly of the urinary tract (118642009); Congenital deformity of the urinary tract (118642009); Congenital anomaly of the urinary tract proper (118642009); Congenital anomaly of the urinary system (253859003); Congenital abnormality of urinary system (253859003); Congenital malformation of the urinary system (253859003)

Definition

An abnormality of the kidney, ureter, bladder, or urethra that is present at birth. Representative examples include renal hypoplasia, renal agenesis, accessory kidney, absence of ureter, atresia of bladder neck, and atresia of urethra. [from NCI]

Professional guidelines

PubMed

ACR Appropriateness Criteria® Acute Pyelonephritis: 2022 Update.
Expert Panel on Urological Imaging, Smith AD, Nikolaidis P, Khatri G, Chong ST, De Leon AD, Ganeshan D, Gore JL, Gupta RT, Kwun R, Lyshchik A, Nicola R, Purysko AS, Savage SJ, Taffel MT, Yoo DC, Delaney EW, Lockhart ME
J Am Coll Radiol 2022 Nov;19(11S):S224-S239. doi: 10.1016/j.jacr.2022.09.017. PMID: 36436954
Health Care Supervision for Children With Williams Syndrome.
Morris CA, Braddock SR; COUNCIL ON GENETICS
Pediatrics 2020 Feb;145(2) Epub 2020 Jan 21 doi: 10.1542/peds.2019-3761. PMID: 31964759
Management of antenatal hydronephrosis.
Yalçınkaya F, Özçakar ZB
Pediatr Nephrol 2020 Dec;35(12):2231-2239. Epub 2019 Dec 6 doi: 10.1007/s00467-019-04420-6. PMID: 31811536

Recent clinical studies

Etiology

Differences in prenatal diagnosis rate of congenital anomalies associated with singletons and multiple births: An observational study of more than 1.9 million births in Zhejiang Province, eastern China, during 2012-2018.
Chen L, Wen H, Lou H, Chen X, Chen D, Zhu S, Zhang X
Int J Gynaecol Obstet 2023 Oct;163(1):282-290. Epub 2023 May 2 doi: 10.1002/ijgo.14821. PMID: 37128957

Diagnosis

Differences in prenatal diagnosis rate of congenital anomalies associated with singletons and multiple births: An observational study of more than 1.9 million births in Zhejiang Province, eastern China, during 2012-2018.
Chen L, Wen H, Lou H, Chen X, Chen D, Zhu S, Zhang X
Int J Gynaecol Obstet 2023 Oct;163(1):282-290. Epub 2023 May 2 doi: 10.1002/ijgo.14821. PMID: 37128957

Clinical prediction guides

Differences in prenatal diagnosis rate of congenital anomalies associated with singletons and multiple births: An observational study of more than 1.9 million births in Zhejiang Province, eastern China, during 2012-2018.
Chen L, Wen H, Lou H, Chen X, Chen D, Zhu S, Zhang X
Int J Gynaecol Obstet 2023 Oct;163(1):282-290. Epub 2023 May 2 doi: 10.1002/ijgo.14821. PMID: 37128957

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