From HPO
Polyuria- MedGen UID:
- 19404
- •Concept ID:
- C0032617
- •
- Sign or Symptom
An increased rate of urine production.
Proteinuria- MedGen UID:
- 10976
- •Concept ID:
- C0033687
- •
- Finding
Increased levels of protein in the urine.
Chronic kidney disease- MedGen UID:
- 473458
- •Concept ID:
- C1561643
- •
- Disease or Syndrome
Functional anomaly of the kidney persisting for at least three months.
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).
Hyperechogenic kidneys- MedGen UID:
- 477530
- •Concept ID:
- C3275899
- •
- Finding
An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal.
Pulmonary arterial hypertension- MedGen UID:
- 425404
- •Concept ID:
- C2973725
- •
- Disease or Syndrome
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
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.
Feeding difficulties- MedGen UID:
- 65429
- •Concept ID:
- C0232466
- •
- Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Global developmental delay- MedGen UID:
- 107838
- •Concept ID:
- C0557874
- •
- Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Anemia- MedGen UID:
- 1526
- •Concept ID:
- C0002871
- •
- Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Pancytopenia- MedGen UID:
- 18281
- •Concept ID:
- C0030312
- •
- Disease or Syndrome
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
Thrombocytopenia- MedGen UID:
- 52737
- •Concept ID:
- C0040034
- •
- Disease or Syndrome
A reduction in the number of circulating thrombocytes.
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.
Type 2 muscle fiber atrophy- MedGen UID:
- 355249
- •Concept ID:
- C1864580
- •
- Pathologic Function
Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy.
Respiratory insufficiency- MedGen UID:
- 11197
- •Concept ID:
- C0035229
- •
- Pathologic Function
Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.
Respiratory failure- MedGen UID:
- 257837
- •Concept ID:
- C1145670
- •
- Disease or Syndrome
A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.
Leukopenia- MedGen UID:
- 6073
- •Concept ID:
- C0023530
- •
- Disease or Syndrome
An abnormal decreased number of leukocytes in the blood.
Diabetes mellitus- MedGen UID:
- 8350
- •Concept ID:
- C0011849
- •
- Disease or Syndrome
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Hyponatremia- MedGen UID:
- 6984
- •Concept ID:
- C0020625
- •
- Finding
An abnormally decreased sodium concentration in the blood.
Increased blood urea nitrogen- MedGen UID:
- 760252
- •Concept ID:
- C0151539
- •
- Finding
An increased amount of nitrogen in the form of urea in the blood.
Hypomagnesemia- MedGen UID:
- 57481
- •Concept ID:
- C0151723
- •
- Disease or Syndrome
An abnormally decreased magnesium concentration in the blood.
Hyperuricemia- MedGen UID:
- 149260
- •Concept ID:
- C0740394
- •
- Disease or Syndrome
An abnormally high level of uric acid in the blood.
Hypochloremic metabolic alkalosis- MedGen UID:
- 152850
- •Concept ID:
- C0740895
- •
- Disease or Syndrome
Increased circulating lactate concentration- MedGen UID:
- 332209
- •Concept ID:
- C1836440
- •
- Finding
Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).
Premature birth- MedGen UID:
- 57721
- •Concept ID:
- C0151526
- •
- Pathologic Function
The birth of a baby of less than 37 weeks of gestational age.
- Abnormality of blood and blood-forming tissues
- Abnormality of metabolism/homeostasis
- Abnormality of prenatal development or birth
- 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
- Abnormality of the respiratory system
- Growth abnormality