From HPO
Short 5th metacarpal- MedGen UID:
- 348858
- •Concept ID:
- C1861388
- •
- Finding
Short fifth metacarpal bone.
Aplasia/Hypoplasia of the middle phalanges of the hand- MedGen UID:
- 354674
- •Concept ID:
- C1862152
- •
- Finding
Aplasia/Hypoplasia of the middle phalanges of the toes- MedGen UID:
- 869548
- •Concept ID:
- C4023976
- •
- Finding
Metacarpophalangeal synostosis- MedGen UID:
- 870663
- •Concept ID:
- C4025117
- •
- Anatomical Abnormality
Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint.
Conductive hearing impairment- MedGen UID:
- 9163
- •Concept ID:
- C0018777
- •
- Disease or Syndrome
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
Stapes ankylosis- MedGen UID:
- 350008
- •Concept ID:
- C1861326
- •
- Anatomical Abnormality
Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles).
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).
Carpal synostosis- MedGen UID:
- 98468
- •Concept ID:
- C0431863
- •
- Congenital Abnormality
Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).
Distal symphalangism of hands- MedGen UID:
- 350607
- •Concept ID:
- C1862158
- •
- Finding
The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases.
Proximal symphalangism of hands- MedGen UID:
- 867247
- •Concept ID:
- C4021607
- •
- Anatomical Abnormality
The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases.
- Abnormality of limbs
- Abnormality of the musculoskeletal system
- Ear malformation