From HPO
Nephrotic syndrome- MedGen UID:
- 10308
- •Concept ID:
- C0027726
- •
- Disease or Syndrome
Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.
Proteinuria- MedGen UID:
- 10976
- •Concept ID:
- C0033687
- •
- Finding
Increased levels of protein in the urine.
Diffuse mesangial sclerosis- MedGen UID:
- 78698
- •Concept ID:
- C0268747
- •
- Disease or Syndrome
Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion.
Chronic kidney disease- MedGen UID:
- 473458
- •Concept ID:
- C1561643
- •
- Disease or Syndrome
Functional anomaly of the kidney persisting for at least three months.
Stage 5 chronic kidney disease- MedGen UID:
- 384526
- •Concept ID:
- C2316810
- •
- Disease or Syndrome
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
Thin glomerular basement membrane- MedGen UID:
- 478451
- •Concept ID:
- C3276821
- •
- Finding
Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs.
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.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
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.
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.
Hypoalbuminemia- MedGen UID:
- 68694
- •Concept ID:
- C0239981
- •
- Finding
Reduction in the concentration of albumin in the blood.
Generalized edema- MedGen UID:
- 376817
- •Concept ID:
- C1850534
- •
- Pathologic Function
Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Cerebral visual impairment- MedGen UID:
- 890568
- •Concept ID:
- C4048268
- •
- Pathologic Function
A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.
- Abnormality of metabolism/homeostasis
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the nervous system
- Ear malformation