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Results: 5

1.

Acute kidney injury

Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). [from HPO]

MedGen UID:
505006
Concept ID:
CN001736
Finding
2.

Renal insufficiency

A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. [from HPO]

MedGen UID:
427392
Concept ID:
CN000083
Finding
3.

Oculocutaneous albinism type 1A

Oculocutaneous albinism type 1 (OCA1) is characterized by hypopigmentation of the skin and hair and the distinctive ocular changes found in all types of albinism, including: nystagmus; reduced iris pigment with iris translucency; reduced retinal pigment with visualization of the choroidal blood vessels on ophthalmoscopic examination; foveal hypoplasia with substantial reduction in visual acuity, usually in the range of 20/100 to 20/400; and misrouting of the optic nerve fiber radiations at the chiasm, resulting in strabismus, reduced stereoscopic vision, and altered visually evoked potentials (VEP). Individuals with OCA1A have white hair, white skin that does not tan, and fully translucent irides, none of which darken with age. At birth, individuals with OCA1B have white or very light yellow hair that darkens minimally with age, white skin that over time develops some minimal generalized pigment and may tan slightly with judicious sun exposure, and blue irides that darken to green/hazel or light brown/tan with age, although transillumination defects persist. Visual acuity may be 20/60 or better in some eyes. [from GeneReviews]

MedGen UID:
82809
Concept ID:
C0268494
Disease or Syndrome
4.

Renal failure syndrome

Healthy kidneys clean your blood by removing excess fluid, minerals, and wastes. They also make hormones that keep your bones strong and your blood healthy. But if the kidneys are damaged, they don't work properly. Harmful wastes can build up in your body. Your blood pressure may rise. Your body may retain excess fluid and not make enough red blood cells. This is called kidney failure. If your kidneys fail, you need treatment to replace the work they normally do. The treatment options are dialysis or a kidney transplant. Each treatment has benefits and drawbacks. No matter which treatment you choose, you'll need to make some changes in your life, including how you eat and plan your activities. But with the help of healthcare providers, family, and friends, most people with kidney failure can lead full and active lives. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
11177
Concept ID:
C0035078
Disease or Syndrome
5.

Acute renal failure syndrome

A severe stage of acute renal insufficiency, characterized by the sudden decrease in GLOMERULAR FILTRATION RATE to less than 15 ml per min, sometime to less than 1 to 2 ml per min. It is usually associated with OLIGURIA; EDEMA; and increase in BLOOD UREA NITROGEN and serum CREATININE concentrations. [from MeSH]

MedGen UID:
9636
Concept ID:
C0022660
Disease or Syndrome

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