From HPO
Stage 3 chronic kidney disease- MedGen UID:
- 389222
- •Concept ID:
- C2316787
- •
- Disease or Syndrome
A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2).
Postnatal growth retardation- MedGen UID:
- 395343
- •Concept ID:
- C1859778
- •
- Finding
Slow or limited growth after birth.
Anemia- MedGen UID:
- 1526
- •Concept ID:
- C0002871
- •
- Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Pathologic fracture- MedGen UID:
- 42095
- •Concept ID:
- C0016663
- •
- Pathologic Function
A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.
Osteopetrosis- MedGen UID:
- 18223
- •Concept ID:
- C0029454
- •
- Finding
Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal.
Increased bone mineral density- MedGen UID:
- 10502
- •Concept ID:
- C0029464
- •
- Disease or Syndrome
An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.
Thick skull base- MedGen UID:
- 326511
- •Concept ID:
- C1839507
- •
- Finding
Cortical sclerosis- MedGen UID:
- 870710
- •Concept ID:
- C4025164
- •
- Pathologic Function
Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity.
Hyperkalemia- MedGen UID:
- 5691
- •Concept ID:
- C0020461
- •
- Finding
An abnormally increased potassium concentration in the blood.
Elevated circulating creatinine concentration- MedGen UID:
- 148579
- •Concept ID:
- C0700225
- •
- Finding
An increased amount of creatinine in the blood.
Elevated circulating alkaline phosphatase concentration- MedGen UID:
- 727252
- •Concept ID:
- C1314665
- •
- Finding
Abnormally increased serum levels of alkaline phosphatase activity.
Hyperparathyroidism- MedGen UID:
- 6967
- •Concept ID:
- C0020502
- •
- Disease or Syndrome
Excessive production of parathyroid hormone (PTH) by the parathyroid glands.
Papilledema- MedGen UID:
- 10565
- •Concept ID:
- C0030353
- •
- Finding
Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.
Reduced visual acuity- MedGen UID:
- 65889
- •Concept ID:
- C0234632
- •
- Finding
Diminished clarity of vision.
- Abnormality of blood and blood-forming tissues
- Abnormality of metabolism/homeostasis
- Abnormality of the endocrine system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Growth abnormality