From HPO
Flat acetabular roof- MedGen UID:
- 373340
- •Concept ID:
- C1837485
- •
- Finding
Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.
Elongated femoral neck- MedGen UID:
- 333476
- •Concept ID:
- C1840066
- •
- Finding
Increased length of the neck of the femur.
Wide humerus- MedGen UID:
- 867351
- •Concept ID:
- C4021715
- •
- Anatomical Abnormality
Severe short stature- MedGen UID:
- 3931
- •Concept ID:
- C0013336
- •
- Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Abdominal distention- MedGen UID:
- 34
- •Concept ID:
- C0000731
- •
- Finding
Distention of the abdomen.
Thin corpus callosum- MedGen UID:
- 1785336
- •Concept ID:
- C5441562
- •
- Anatomical Abnormality
An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).
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.
Hemivertebrae- MedGen UID:
- 82720
- •Concept ID:
- C0265677
- •
- Congenital Abnormality
Absence of one half of the vertebral body.
Difficulty walking- MedGen UID:
- 86319
- •Concept ID:
- C0311394
- •
- Finding
Reduced ability to walk (ambulate).
Glenoid fossa hypoplasia- MedGen UID:
- 331731
- •Concept ID:
- C1834384
- •
- Finding
Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus.
Hypoplastic iliac wing- MedGen UID:
- 351279
- •Concept ID:
- C1865027
- •
- Anatomical Abnormality
Underdevelopment of the ilium ala.
Dysostosis multiplex- MedGen UID:
- 1851010
- •Concept ID:
- C5848292
- •
- Disease or Syndrome
Coarse facial features- MedGen UID:
- 335284
- •Concept ID:
- C1845847
- •
- Finding
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the digestive system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Growth abnormality