From HPO
Hallux valgus- MedGen UID:
- 5416
- •Concept ID:
- C0018536
- •
- Anatomical Abnormality
Lateral deviation of the great toe (i.e., in the direction of the little toe).
Coxa valga- MedGen UID:
- 116080
- •Concept ID:
- C0239137
- •
- Finding
Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).
Genu valgum- MedGen UID:
- 154364
- •Concept ID:
- C0576093
- •
- Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
Recurrent patellar dislocation- MedGen UID:
- 592395
- •Concept ID:
- C0409412
- •
- Injury or Poisoning
Patellar dislocation occurring repeated times.
Contracture of the distal interphalangeal joint of the 5th finger- MedGen UID:
- 870120
- •Concept ID:
- C4024551
- •
- Anatomical Abnormality
Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue.
Sloping forehead- MedGen UID:
- 346640
- •Concept ID:
- C1857679
- •
- Finding
Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.
Cleft palate- MedGen UID:
- 756015
- •Concept ID:
- C2981150
- •
- Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Hypermetropia- MedGen UID:
- 43780
- •Concept ID:
- C0020490
- •
- Disease or Syndrome
An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
Nystagmus- MedGen UID:
- 45166
- •Concept ID:
- C0028738
- •
- Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Coloboma of macula- MedGen UID:
- 342305
- •Concept ID:
- C1852767
- •
- Congenital Abnormality
A macular coloboma is an area of 2-6 disk diameters in which there is total or considerable chorioretinal maldevelopment, often with extasia of the underlying sclera which produces the white appearance visible ophthalmoscopically (summary by Phillips, 1970).
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the eye
- Abnormality of the musculoskeletal system