From HPO
Polyuria- MedGen UID:
- 19404
- •Concept ID:
- C0032617
- •
- Sign or Symptom
An increased rate of urine production.
Decreased glomerular filtration rate- MedGen UID:
- 163428
- •Concept ID:
- C0853068
- •
- Finding
An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.
Renal insufficiency- MedGen UID:
- 332529
- •Concept ID:
- C1565489
- •
- Disease or Syndrome
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.
Renal salt wasting- MedGen UID:
- 375868
- •Concept ID:
- C1846347
- •
- Finding
A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).
Increased urinary potassium- MedGen UID:
- 337562
- •Concept ID:
- C1846351
- •
- Finding
An increased concentration of potassium(1+) in the urine.
Hyperchloriduria- MedGen UID:
- 337563
- •Concept ID:
- C1846352
- •
- Finding
An increased concentration of chloride in the urine.
Impaired renal concentrating ability- MedGen UID:
- 395351
- •Concept ID:
- C1859819
- •
- Finding
A defect in the ability to concentrate the urine.
Global glomerulosclerosis- MedGen UID:
- 355432
- •Concept ID:
- C1865276
- •
- Finding
Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%.
Tubulointerstitial fibrosis- MedGen UID:
- 370652
- •Concept ID:
- C1969372
- •
- Disease or Syndrome
A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy.
Hypernatriuria- MedGen UID:
- 854169
- •Concept ID:
- C3671887
- •
- Finding
An increased concentration of sodium(1+) in the urine.
Reduced renal corticomedullary differentiation- MedGen UID:
- 813461
- •Concept ID:
- C3807131
- •
- Finding
Reduced differentiation between renal cortex and medulla on diagnostic imaging.
Failure to thrive- MedGen UID:
- 746019
- •Concept ID:
- C2315100
- •
- Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Sensorineural hearing loss disorder- MedGen UID:
- 9164
- •Concept ID:
- C0018784
- •
- Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Polydipsia- MedGen UID:
- 43214
- •Concept ID:
- C0085602
- •
- Sign or Symptom
Excessive thirst manifested by excessive fluid intake.
Hyporeflexia- MedGen UID:
- 195967
- •Concept ID:
- C0700078
- •
- Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Motor delay- MedGen UID:
- 381392
- •Concept ID:
- C1854301
- •
- Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Hypotonia- MedGen UID:
- 10133
- •Concept ID:
- C0026827
- •
- Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Generalized hypotonia- MedGen UID:
- 346841
- •Concept ID:
- C1858120
- •
- Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Edema- MedGen UID:
- 4451
- •Concept ID:
- C0013604
- •
- Pathologic Function
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Hypokalemia- MedGen UID:
- 5712
- •Concept ID:
- C0020621
- •
- Finding
An abnormally decreased potassium concentration in the blood.
Hyponatremia- MedGen UID:
- 6984
- •Concept ID:
- C0020625
- •
- Finding
An abnormally decreased sodium concentration in the blood.
Hypochloremia- MedGen UID:
- 39088
- •Concept ID:
- C0085680
- •
- Disease or Syndrome
An abnormally decreased chloride concentration in the blood.
Hypokalemic hypochloremic metabolic alkalosis- MedGen UID:
- 152851
- •Concept ID:
- C0740896
- •
- Disease or Syndrome
Polyhydramnios- MedGen UID:
- 6936
- •Concept ID:
- C0020224
- •
- Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Hydrops fetalis- MedGen UID:
- 6947
- •Concept ID:
- C0020305
- •
- Disease or Syndrome
The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.
Premature birth- MedGen UID:
- 57721
- •Concept ID:
- C0151526
- •
- Pathologic Function
The birth of a baby of less than 37 weeks of gestational age.
Fetal polyuria- MedGen UID:
- 355948
- •Concept ID:
- C1865279
- •
- Finding
Abnormally increased production of urine by the fetus resulting in polyhydramnios.
Increased circulating aldosterone concentration- MedGen UID:
- 6960
- •Concept ID:
- C0020428
- •
- Disease or Syndrome
Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.
- Abnormality of metabolism/homeostasis
- Abnormality of prenatal development or birth
- Abnormality of the endocrine system
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Ear malformation
- Growth abnormality