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.
Knee dislocation- MedGen UID:
- 102364
- •Concept ID:
- C0159970
- •
- Injury or Poisoning
Slippage of the FEMUR off the TIBIA.
Dislocated radial head- MedGen UID:
- 488814
- •Concept ID:
- C0265563
- •
- Congenital Abnormality
A dislocation of the head of the radius from its socket in the elbow joint.
Tapered finger- MedGen UID:
- 98098
- •Concept ID:
- C0426886
- •
- Finding
The gradual reduction in girth of the finger from proximal to distal.
Delayed ossification of carpal bones- MedGen UID:
- 374771
- •Concept ID:
- C1841684
- •
- Finding
Ossification of carpal bones occurs later than age-adjusted norms.
Hypoplasia of the ulna- MedGen UID:
- 395934
- •Concept ID:
- C1860614
- •
- Congenital Abnormality
Underdevelopment of the ulna.
Carpal bone hypoplasia- MedGen UID:
- 355049
- •Concept ID:
- C1863749
- •
- Finding
Underdevelopment of one or more carpal bones.
Obesity- MedGen UID:
- 18127
- •Concept ID:
- C0028754
- •
- Disease or Syndrome
Accumulation of substantial excess body fat.
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).
Delayed ability to walk- MedGen UID:
- 66034
- •Concept ID:
- C0241726
- •
- Finding
A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
Hip dislocation- MedGen UID:
- 42455
- •Concept ID:
- C0019554
- •
- Injury or Poisoning
Displacement of the femur from its normal location in the hip joint.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Dolichocephaly- MedGen UID:
- 65142
- •Concept ID:
- C0221358
- •
- Congenital Abnormality
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Multiple joint dislocation- MedGen UID:
- 90698
- •Concept ID:
- C0332792
- •
- Injury or Poisoning
Dislocation of many joints.
Thin ribs- MedGen UID:
- 98095
- •Concept ID:
- C0426818
- •
- Finding
Ribs with a reduced diameter.
Spondyloepimetaphyseal dysplasia- MedGen UID:
- 609408
- •Concept ID:
- C0432211
- •
- Disease or Syndrome
An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis.
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.
Narrow vertebral interpedicular distance- MedGen UID:
- 318662
- •Concept ID:
- C1832598
- •
- Finding
A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.
Short femoral neck- MedGen UID:
- 373033
- •Concept ID:
- C1836184
- •
- Finding
An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
Metaphyseal irregularity- MedGen UID:
- 325478
- •Concept ID:
- C1838662
- •
- Finding
Irregularity of the normally smooth surface of the metaphyses.
Irregular vertebral endplates- MedGen UID:
- 331233
- •Concept ID:
- C1842153
- •
- Finding
An irregular surface of the vertebral end plates, which are normally relatively smooth.
Platyspondyly- MedGen UID:
- 335010
- •Concept ID:
- C1844704
- •
- Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Joint hypermobility- MedGen UID:
- 336793
- •Concept ID:
- C1844820
- •
- Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Short neck- MedGen UID:
- 99267
- •Concept ID:
- C0521525
- •
- Finding
Diminished length of the neck.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Growth abnormality