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.
Ulnar deviation of finger- MedGen UID:
- 68543
- •Concept ID:
- C0231679
- •
- Finding
Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
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.
Carpal bone aplasia- MedGen UID:
- 324464
- •Concept ID:
- C1836219
- •
- Finding
Congenital absence of a carpal bone.
Aplasia of metacarpal bones- MedGen UID:
- 335431
- •Concept ID:
- C1846473
- •
- Finding
Developmental defect associated with absence of one or more metacarpal bones.
Clinodactyly of the 5th finger- MedGen UID:
- 340456
- •Concept ID:
- C1850049
- •
- Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Long fingers- MedGen UID:
- 346836
- •Concept ID:
- C1858091
- •
- Finding
The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand.
Growth abnormality- MedGen UID:
- 808205
- •Concept ID:
- C0262361
- •
- Finding
Epiphyseal dysplasia- MedGen UID:
- 95932
- •Concept ID:
- C0392476
- •
- Congenital Abnormality
Metaphyseal irregularity- MedGen UID:
- 325478
- •Concept ID:
- C1838662
- •
- Finding
Irregularity of the normally smooth surface of the metaphyses.
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.
Narrow pelvis bone- MedGen UID:
- 336266
- •Concept ID:
- C1848103
- •
- Finding
Reduced side to side width of the pelvis.
Hypoplasia of the femoral head- MedGen UID:
- 384014
- •Concept ID:
- C1856920
- •
- Anatomical Abnormality
Underdevelopment of the femoral head.
Marked delay in bone age- MedGen UID:
- 401468
- •Concept ID:
- C1868549
- •
- Finding
Absent metacarpal epiphyses- MedGen UID:
- 867155
- •Concept ID:
- C4021513
- •
- Anatomical Abnormality
Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals.
- Abnormality of limbs
- Abnormality of the musculoskeletal system
- Growth abnormality