From HPO
Arthralgia- MedGen UID:
- 13917
- •Concept ID:
- C0003862
- •
- Sign or Symptom
Joint pain.
Low back pain- MedGen UID:
- 7389
- •Concept ID:
- C0024031
- •
- Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back.
Diminished physical functioning- MedGen UID:
- 1785731
- •Concept ID:
- C5539751
- •
- Finding
A reduction in the ability to perform activities of daily living as compared to previous abilities because of functional deficits due to illness. The 36-item Short Form (SF-36) health survey questionnaire is one of many methods used to measure patients' perceptions of diminished physical functioning.
Nephrolithiasis- MedGen UID:
- 98227
- •Concept ID:
- C0392525
- •
- Disease or Syndrome
The presence of calculi (stones) in the kidneys.
Dark urine- MedGen UID:
- 604849
- •Concept ID:
- C0426396
- •
- Finding
An abnormal dark color of the urine.
Decreased glomerular filtration rate- MedGen UID:
- 163428
- •Concept ID:
- C0853068
- •
- Finding
An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.
Elevated urinary homogentisic acid- MedGen UID:
- 1789056
- •Concept ID:
- C5539768
- •
- Finding
An increased amount of homogentisic acid in the urine.
Limitation of knee mobility- MedGen UID:
- 866903
- •Concept ID:
- C4021259
- •
- Finding
An abnormal limitation of knee joint mobility.
Aortic aneurysm- MedGen UID:
- 362
- •Concept ID:
- C0003486
- •
- Disease or Syndrome
Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter.
Aortic valve calcification- MedGen UID:
- 140899
- •Concept ID:
- C0428791
- •
- Disease or Syndrome
Deposition of calcium salts in the aortic valve.
Mitral valve calcification- MedGen UID:
- 181575
- •Concept ID:
- C0919718
- •
- Disease or Syndrome
Abnormal calcification of the mitral valve.
Coronary artery calcification- MedGen UID:
- 345985
- •Concept ID:
- C1611184
- •
- Pathologic Function
An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery.
Growth abnormality- MedGen UID:
- 808205
- •Concept ID:
- C0262361
- •
- Finding
Dark cerumen- MedGen UID:
- 1053180
- •Concept ID:
- CN376539
- •
- Finding
Abnormally dark color of cerumen (earwax), which is a waxy substance secreted in the ear canal that normally has a brown, orange, red, yellowish or gray.
Arthritis- MedGen UID:
- 2043
- •Concept ID:
- C0003864
- •
- Disease or Syndrome
Inflammation of a joint.
Arthropathy- MedGen UID:
- 7190
- •Concept ID:
- C0022408
- •
- Disease or Syndrome
Any disorder of the joints.
Kyphosis- MedGen UID:
- 44042
- •Concept ID:
- C0022821
- •
- Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
Intervertebral disk degeneration- MedGen UID:
- 102357
- •Concept ID:
- C0158266
- •
- Disease or Syndrome
The presence of degenerative changes of intervertebral disk.
Thickened Achilles tendon- MedGen UID:
- 214714
- •Concept ID:
- C0919997
- •
- Finding
An abnormal thickening of the Achilles tendon.
Limited shoulder movement- MedGen UID:
- 341979
- •Concept ID:
- C1851313
- •
- Finding
A limitation of the range of movement of the shoulder joint.
Limited hip movement- MedGen UID:
- 343601
- •Concept ID:
- C1851542
- •
- Finding
A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip.
Vertebral fusion- MedGen UID:
- 480139
- •Concept ID:
- C3278509
- •
- Anatomical Abnormality
A developmental defect leading to the union of two adjacent vertebrae.
Brown pigmentation of the conjunctiva- MedGen UID:
- 1052890
- •Concept ID:
- CN376961
- •
- Finding
Deposition of brown pigmentation in the conjunctiva.
Ochronosis disorder- MedGen UID:
- 45177
- •Concept ID:
- C0028817
- •
- Disease or Syndrome
Brown or blue-gray discoloration of the skin that can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved.
Pigmentation of the sclera- MedGen UID:
- 347969
- •Concept ID:
- C1859882
- •
- Finding
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the cardiovascular system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Constitutional symptom
- Ear malformation
- Growth abnormality