From HPO
Hypercalciuria- MedGen UID:
- 43775
- •Concept ID:
- C0020438
- •
- Finding
Abnormally high level of calcium in the urine.
Nephrocalcinosis- MedGen UID:
- 10222
- •Concept ID:
- C0027709
- •
- Disease or Syndrome
Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.
Polyuria- MedGen UID:
- 19404
- •Concept ID:
- C0032617
- •
- Sign or Symptom
An increased rate of urine production.
Hyposthenuria- MedGen UID:
- 68565
- •Concept ID:
- C0232831
- •
- Finding
An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine.
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).
Renal potassium wasting- MedGen UID:
- 339499
- •Concept ID:
- C1846348
- •
- Finding
High urine potassium in the presence of hypokalemia.
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.
Renal juxtaglomerular cell hypertrophy/hyperplasia- MedGen UID:
- 356547
- •Concept ID:
- C1866496
- •
- Finding
Increased number and size of the juxtaglomerular cells.
Hyperprostaglandinuria- MedGen UID:
- 401015
- •Concept ID:
- C1866498
- •
- Finding
An increased concentration of prostaglandin in the urine.
Low-to-normal blood pressure- MedGen UID:
- 356549
- •Concept ID:
- C1866500
- •
- Finding
Small for gestational age- MedGen UID:
- 65920
- •Concept ID:
- C0235991
- •
- Finding
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
Short stature- MedGen UID:
- 87607
- •Concept ID:
- C0349588
- •
- Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
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.
Constipation- MedGen UID:
- 1101
- •Concept ID:
- C0009806
- •
- Sign or Symptom
Infrequent or difficult evacuation of feces.
Diarrhea- MedGen UID:
- 8360
- •Concept ID:
- C0011991
- •
- Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Vomiting- MedGen UID:
- 12124
- •Concept ID:
- C0042963
- •
- Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Macrotia- MedGen UID:
- 488785
- •Concept ID:
- C0152421
- •
- Congenital Abnormality
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Paresthesia- MedGen UID:
- 14619
- •Concept ID:
- C0030554
- •
- Disease or Syndrome
Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.
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.
Polydipsia- MedGen UID:
- 43214
- •Concept ID:
- C0085602
- •
- Sign or Symptom
Excessive thirst manifested by excessive fluid intake.
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.
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.
Impaired platelet aggregation- MedGen UID:
- 383786
- •Concept ID:
- C1855853
- •
- Finding
An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.
Osteopenia- MedGen UID:
- 18222
- •Concept ID:
- C0029453
- •
- Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Muscle spasm- MedGen UID:
- 52431
- •Concept ID:
- C0037763
- •
- Sign or Symptom
Sudden and involuntary contractions of one or more muscles.
Tetany- MedGen UID:
- 11748
- •Concept ID:
- C0039621
- •
- Finding
A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.
Frontal bossing- MedGen UID:
- 67453
- •Concept ID:
- C0221354
- •
- Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Chondrocalcinosis- MedGen UID:
- 154303
- •Concept ID:
- C0553730
- •
- Disease or Syndrome
Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .
Generalized muscle weakness- MedGen UID:
- 155433
- •Concept ID:
- C0746674
- •
- Sign or Symptom
Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.
Macrocephaly- MedGen UID:
- 745757
- •Concept ID:
- C2243051
- •
- Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Dehydration- MedGen UID:
- 8273
- •Concept ID:
- C0011175
- •
- Disease or Syndrome
A condition resulting from the excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis.
Fever- MedGen UID:
- 5169
- •Concept ID:
- C0015967
- •
- Sign or Symptom
Body temperature elevated above the normal range.
Hypokalemia- MedGen UID:
- 5712
- •Concept ID:
- C0020621
- •
- Finding
An abnormally decreased potassium concentration in the blood.
Hypochloremia- MedGen UID:
- 39088
- •Concept ID:
- C0085680
- •
- Disease or Syndrome
An abnormally decreased chloride concentration in the blood.
Hypomagnesemia- MedGen UID:
- 57481
- •Concept ID:
- C0151723
- •
- Disease or Syndrome
An abnormally decreased magnesium concentration in the blood.
Hypokalemic metabolic alkalosis- MedGen UID:
- 152852
- •Concept ID:
- C0740898
- •
- Disease or Syndrome
Increased serum prostaglandin E2- MedGen UID:
- 461708
- •Concept ID:
- C3150358
- •
- Finding
An increased concentration of prostaglandin E2 in the blood.
Triangular face- MedGen UID:
- 324383
- •Concept ID:
- C1835884
- •
- Finding
Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.
Prominent forehead- MedGen UID:
- 373291
- •Concept ID:
- C1837260
- •
- Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Polyhydramnios- MedGen UID:
- 6936
- •Concept ID:
- C0020224
- •
- Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
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.
Increased circulating renin concentration- MedGen UID:
- 66818
- •Concept ID:
- C0240783
- •
- Finding
An increased level of renin in the blood.
Hyperactive renin-angiotensin system- MedGen UID:
- 335401
- •Concept ID:
- C1846345
- •
- Finding
An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms.
Abnormally large globe- MedGen UID:
- 344595
- •Concept ID:
- C1855852
- •
- Finding
Diffusely large eye (with megalocornea) without glaucoma.
- Abnormality of blood and blood-forming tissues
- Abnormality of head or neck
- Abnormality of metabolism/homeostasis
- Abnormality of prenatal development or birth
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the endocrine system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Ear malformation
- Growth abnormality