From HPO
Kidney disorder- MedGen UID:
- 9635
- •Concept ID:
- C0022658
- •
- Disease or Syndrome
A nonspecific term referring to disease or damage of the kidneys.
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.
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.
Pericardial effusion- MedGen UID:
- 10653
- •Concept ID:
- C0031039
- •
- Disease or Syndrome
Accumulation of fluid within the pericardium.
Ascites- MedGen UID:
- 416
- •Concept ID:
- C0003962
- •
- Disease or Syndrome
Accumulation of fluid in the peritoneal cavity.
Intellectual disability, severe- MedGen UID:
- 48638
- •Concept ID:
- C0036857
- •
- Mental or Behavioral Dysfunction
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
Abnormality of the skeletal system- MedGen UID:
- 867418
- •Concept ID:
- C4021790
- •
- Anatomical Abnormality
An abnormality of the skeletal system.
Bone-marrow foam cells- MedGen UID:
- 383940
- •Concept ID:
- C1856560
- •
- Finding
The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance.
Abnormality of metabolism/homeostasis- MedGen UID:
- 867398
- •Concept ID:
- C4021768
- •
- Finding
Abnormal facial shape- MedGen UID:
- 98409
- •Concept ID:
- C0424503
- •
- Finding
An abnormal morphology (form) of the face or its components.
- Abnormality of head or neck
- Abnormality of metabolism/homeostasis
- 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