From HPO
Brachydactyly- MedGen UID:
- 67454
- •Concept ID:
- C0221357
- •
- Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Talipes equinovalgus- MedGen UID:
- 78567
- •Concept ID:
- C0265642
- •
- Congenital Abnormality
A deformity of foot and ankle in which the foot is bent down and outwards.
Short phalanx of finger- MedGen UID:
- 163753
- •Concept ID:
- C0877165
- •
- Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Fibular hypoplasia- MedGen UID:
- 316909
- •Concept ID:
- C1832119
- •
- Finding
Underdevelopment of the fibula.
Fibular aplasia- MedGen UID:
- 373034
- •Concept ID:
- C1836186
- •
- Finding
Absence of the fibula.
Short metacarpal- MedGen UID:
- 323064
- •Concept ID:
- C1837084
- •
- Anatomical Abnormality
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Short metatarsal- MedGen UID:
- 341358
- •Concept ID:
- C1849020
- •
- Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
Malaligned carpal bone- MedGen UID:
- 383975
- •Concept ID:
- C1856742
- •
- Finding
Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna).
Deformed tarsal bones- MedGen UID:
- 347291
- •Concept ID:
- C1856746
- •
- Finding
Rhizomelia- MedGen UID:
- 357122
- •Concept ID:
- C1866730
- •
- Congenital Abnormality
Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).
Absent toe- MedGen UID:
- 766668
- •Concept ID:
- C3553754
- •
- Finding
Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues.
Deviation of finger- MedGen UID:
- 1680949
- •Concept ID:
- C4759671
- •
- Anatomical Abnormality
Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges.
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.
Small nail- MedGen UID:
- 537942
- •Concept ID:
- C0263523
- •
- Finding
A nail that is diminished in length and width, i.e., underdeveloped nail.
Aplastic/hypoplastic toenail- MedGen UID:
- 347294
- •Concept ID:
- C1856749
- •
- Finding
Absence or underdevelopment of the toenail.
- Abnormality of limbs
- Abnormality of the integument
- Abnormality of the musculoskeletal system