From HPO
Urinary incontinence- MedGen UID:
- 22579
- •Concept ID:
- C0042024
- •
- Finding
Loss of the ability to control the urinary bladder leading to involuntary urination.
Presacral teratoma- MedGen UID:
- 1647319
- •Concept ID:
- C4551654
- •
- Neoplastic Process
A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV).
Neurogenic bladder- MedGen UID:
- 595
- •Concept ID:
- C0005697
- •
- Disease or Syndrome
A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention.
Vesicoureteral reflux- MedGen UID:
- 21852
- •Concept ID:
- C0042580
- •
- Disease or Syndrome
Vesicoureteral reflux (VUR) is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys. It is a risk factor for urinary tract infections. Primary VUR results from a developmental defect of the ureterovesical junction (UVJ). In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy (RN). Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, and renal insufficiency (summary by Lu et al., 2007).
Genetic Heterogeneity of Vesicoureteral Reflux
A locus designated VUR1 maps to chromosome 1p13. VUR2 (610878) is caused by mutation in the ROBO2 gene (602431) on chromosome 3p12; VUR3 (613674) is caused by mutation in the SOX17 gene (610928) on chromosome 8q11; VUR4 (614317) maps to chromosome 5; VUR5 (614318) maps to chromosome 13; VUR6 (614319) maps to chromosome 18; VUR7 (615390) maps to chromosome 12; and VUR8 (615963) is caused by mutation in the TNXB gene (600985) on chromosome 6p21. A possible X-linked form has been reported (VURX; 314550).
Horseshoe kidney- MedGen UID:
- 65140
- •Concept ID:
- C0221353
- •
- Congenital Abnormality
A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.
Recurrent urinary tract infections- MedGen UID:
- 120466
- •Concept ID:
- C0262655
- •
- Disease or Syndrome
Repeated infections of the urinary tract.
Bicornuate uterus- MedGen UID:
- 78599
- •Concept ID:
- C0266387
- •
- Congenital Abnormality
The presence of a bicornuate uterus.
Septate vagina- MedGen UID:
- 82741
- •Concept ID:
- C0266411
- •
- Congenital Abnormality
The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases.
Vascular dilatation- MedGen UID:
- 8076
- •Concept ID:
- C0002940
- •
- Pathologic Function
Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.
Abdominal distention- MedGen UID:
- 34
- •Concept ID:
- C0000731
- •
- Finding
Distention of the abdomen.
Imperforate anus- MedGen UID:
- 1997
- •Concept ID:
- C0003466
- •
- Congenital Abnormality
Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
Perianal abscess- MedGen UID:
- 14677
- •Concept ID:
- C0031019
- •
- Disease or Syndrome
The presence of an abscess located around the anus.
Rectovaginal fistula- MedGen UID:
- 11152
- •Concept ID:
- C0034895
- •
- Finding
The presence of a fistula between the vagina and the rectum.
Anal fistula- MedGen UID:
- 61482
- •Concept ID:
- C0205929
- •
- Finding
An abnormal connection between the epithelialised surface of the anal canal and the perianal skin.
Gastrointestinal obstruction- MedGen UID:
- 66735
- •Concept ID:
- C0236124
- •
- Disease or Syndrome
Anal stenosis- MedGen UID:
- 82644
- •Concept ID:
- C0262374
- •
- Anatomical Abnormality
Abnormal narrowing of the anal opening.
Chronic constipation- MedGen UID:
- 98325
- •Concept ID:
- C0401149
- •
- Sign or Symptom
Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.
Tethered cord- MedGen UID:
- 36387
- •Concept ID:
- C0080218
- •
- Disease or Syndrome
During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord.
Global developmental delay- MedGen UID:
- 107838
- •Concept ID:
- C0557874
- •
- Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Absence of the sacrum- MedGen UID:
- 83373
- •Concept ID:
- C0344490
- •
- Congenital Abnormality
Absence (aplasia) of the sacrum.
Anterior sacral meningocele- MedGen UID:
- 401299
- •Concept ID:
- C1867776
- •
- Finding
Hemisacrum- MedGen UID:
- 383153
- •Concept ID:
- C2677632
- •
- Anatomical Abnormality
A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5.
Bifid sacrum- MedGen UID:
- 869775
- •Concept ID:
- C4024204
- •
- Congenital Abnormality
Presence of a bifid sacral bone.
Sepsis- MedGen UID:
- 48626
- •Concept ID:
- C0036690
- •
- Disease or Syndrome
Systemic inflammatory response to infection.
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Constitutional symptom
- Neoplasm