U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Abnormality of the genitourinary system

MedGen UID:
52948
Concept ID:
C0042063
Congenital Abnormality
Synonyms: Abnormalities, Genitourinary; Abnormalities, Urogenital; Abnormality, Genitourinary; Abnormality, Urogenital; Genitourinary Abnormalities; Genitourinary Abnormality; Urogenital Abnormalities; Urogenital Abnormality
SNOMED CT: Genitourinary congenital anomalies (287085006); Congenital urogenital anomaly (287085006)
 
HPO: HP:0000119

Definition

The presence of any abnormality of the genitourinary system. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Abnormality of the genitourinary system

Conditions with this feature

Induratio penis plastica
MedGen UID:
10629
Concept ID:
C0030848
Disease or Syndrome
Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes erect.
Ovarian hyperstimulation syndrome
MedGen UID:
38966
Concept ID:
C0085083
Disease or Syndrome
A rare non-malformative gynecological disease affecting pre-menopausal women usually following treatment with ovarian stimulating hormones, characterized by ovarian enlargement and, to varying degrees, shift of serum from the intravascular space to the third space, mainly into the peritoneal, pleural, and to a lesser extent to the pericardial cavities. Presenting symptoms include abdomen distention, pain, nausea, and vomiting. Severity ranges from mild to life-threatening and is complicated by increased risk of thrombosis, acute hepato-renal failure, acute respiratory distress syndrome, and ovarian torsion and rupture.
Intestinal malrotation
MedGen UID:
113153
Concept ID:
C0221210
Congenital Abnormality
An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.
Recombinant 8 syndrome
MedGen UID:
167070
Concept ID:
C0795822
Disease or Syndrome
Recombinant chromosome 8 syndrome (Rec8 syndrome) is a chromosomal disorder found among individuals of Hispanic descent with ancestry from the San Luis Valley of southern Colorado and northern New Mexico. Affected individuals typically have impaired intellectual development, congenital heart defects, seizures, a characteristic facial appearance with hypertelorism, thin upper lip, anteverted nares, wide face, and abnormal hair whorl, and other manifestations (Sujansky et al., 1993, summary by Graw et al., 2000).
Labia minora, incomplete adhesion of
MedGen UID:
372090
Concept ID:
C1835613
Finding
Inherited genitourinary tract anomalies
MedGen UID:
375438
Concept ID:
C1844502
Congenital Abnormality
Nathalie syndrome
MedGen UID:
338087
Concept ID:
C1850626
Disease or Syndrome
Nathalie syndrome has characteristics of deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother.
Edema, familial idiopathic, prepubertal
MedGen UID:
377535
Concept ID:
C1851847
Disease or Syndrome
Leukemia, acute myelocytic, with polyposis coli and colon cancer
MedGen UID:
383699
Concept ID:
C1855505
Neoplastic Process
Von Voss-Cherstvoy syndrome
MedGen UID:
341728
Concept ID:
C1857226
Disease or Syndrome
A very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities and thrombocytopenia. Less than 15 cases have been reported. The spectrum of upper limb defects varies from radial agenesis and phocomelia to amelia. A meningoencephalocele is constant. The intellectual development may be normal. Pathogenesis and cause of this syndrome are unknown. Parental consanguinity reported in a family suggests an autosomal recessive pattern of inheritance.
Splenogonadal fusion-limb defects-micrognathia syndrome
MedGen UID:
401073
Concept ID:
C1866745
Disease or Syndrome
Splenogonadal fusion (SGF) is a rare congenital anomaly of abnormal fusion between the spleen and the gonad or the remnants of the mesonephros. In 'continuous SGF,' there is a cord-like connection between the 2 organs, whereas in 'discontinuous SGF,' there is fusion of accessory splenic tissue and the gonad without a distinct structural connection to the spleen itself. Forty-eight percent of individuals with continuous SGF have additional malformations, compared to 9% of those with discontinuous SGF (McPherson et al., 2003).
4p partial monosomy syndrome
MedGen UID:
408255
Concept ID:
C1956097
Disease or Syndrome
Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008).
Galactorrhea
MedGen UID:
777088
Concept ID:
C3665358
Disease or Syndrome
Excessive secretion of breast milk.

Professional guidelines

PubMed

Kashtan CE
Am J Kidney Dis 2021 Feb;77(2):272-279. Epub 2020 Jul 22 doi: 10.1053/j.ajkd.2020.03.026. PMID: 32712016
Speiser PW, Arlt W, Auchus RJ, Baskin LS, Conway GS, Merke DP, Meyer-Bahlburg HFL, Miller WL, Murad MH, Oberfield SE, White PC
J Clin Endocrinol Metab 2018 Nov 1;103(11):4043-4088. doi: 10.1210/jc.2018-01865. PMID: 30272171Free PMC Article
Escobar-Morreale HF
Nat Rev Endocrinol 2018 May;14(5):270-284. Epub 2018 Mar 23 doi: 10.1038/nrendo.2018.24. PMID: 29569621

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...