From HPO
Pes planus- MedGen UID:
- 42034
- •Concept ID:
- C0016202
- •
- Anatomical Abnormality
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Short femur- MedGen UID:
- 87499
- •Concept ID:
- C0345375
- •
- Congenital Abnormality
An abnormal shortening of the femur.
Hypoplasia of the lesser trochanter- MedGen UID:
- 327018
- •Concept ID:
- C1840062
- •
- Finding
Underdevelopment of the lesser trochanter.
Patellar hypoplasia- MedGen UID:
- 327021
- •Concept ID:
- C1840068
- •
- Finding
Underdevelopment of the patella.
Sandal gap- MedGen UID:
- 374376
- •Concept ID:
- C1840069
- •
- Finding
A widely spaced gap between the first toe (the great toe) and the second toe.
Patellar aplasia- MedGen UID:
- 401474
- •Concept ID:
- C1868578
- •
- Congenital Abnormality
Absence of the patella.
Coxa vara- MedGen UID:
- 1790477
- •Concept ID:
- C5551440
- •
- Anatomical Abnormality
Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.
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).
Micrognathia- MedGen UID:
- 44428
- •Concept ID:
- C0025990
- •
- Congenital Abnormality
Developmental hypoplasia of the mandible.
Tarsal synostosis- MedGen UID:
- 539393
- •Concept ID:
- C0265654
- •
- Congenital Abnormality
Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).
Patellar dislocation- MedGen UID:
- 253896
- •Concept ID:
- C1135812
- •
- Injury or Poisoning
The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.
Flat capital femoral epiphysis- MedGen UID:
- 334001
- •Concept ID:
- C1842155
- •
- Finding
An abnormal flattening of the proximal epiphysis of the femur.
Wide capital femoral epiphyses- MedGen UID:
- 870188
- •Concept ID:
- C4024622
- •
- Anatomical Abnormality
Abnormally wide morphology of the proximal epiphysis of the femur.
Talocalcaneal synostosis- MedGen UID:
- 870701
- •Concept ID:
- C4025155
- •
- Finding
High palate- MedGen UID:
- 66814
- •Concept ID:
- C0240635
- •
- Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
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).
Abnormality of the nail- MedGen UID:
- 163115
- •Concept ID:
- C0853087
- •
- Anatomical Abnormality
Abnormality of the nail.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Growth abnormality