From HPO
Knee pain- MedGen UID:
- 65421
- •Concept ID:
- C0231749
- •
- Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee.
Ankle pain- MedGen UID:
- 116068
- •Concept ID:
- C0238656
- •
- Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle.
Hip pain- MedGen UID:
- 1643075
- •Concept ID:
- C4551516
- •
- Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip.
Popliteal cyst- MedGen UID:
- 10853
- •Concept ID:
- C0032650
- •
- Anatomical Abnormality
A fluid-filled mass that is a distention of a preexisting bursa in the popliteal fossa, most commonly the gastrocnemio-semimembranosus bursa. This bursa is unique in that it communicates with the knee joint, unlike other periarticular bursae, via an opening in the joint capsule posterior to the medial femoral condyle.
Acetabular erosions- MedGen UID:
- 1784060
- •Concept ID:
- C5539737
- •
- Finding
Erosion (loss of substance) of the acetabular subchondral cortical bone. The acetabulum is the concave surface that meets with the head of the femur, forming the hip joint.
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).
Synovitis- MedGen UID:
- 21051
- •Concept ID:
- C0039103
- •
- Disease or Syndrome
Inflammation of a synovial membrane.
Chondrocalcinosis- MedGen UID:
- 154303
- •Concept ID:
- C0553730
- •
- Disease or Syndrome
Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .
Finger joint hypermobility- MedGen UID:
- 154359
- •Concept ID:
- C0574974
- •
- Finding
Wrist hypermobility- MedGen UID:
- 340648
- •Concept ID:
- C1850853
- •
- Finding
The ability of the wrist joints to move beyond their normal range of motion.
Lumbar scoliosis- MedGen UID:
- 412568
- •Concept ID:
- C2748518
- •
- Finding
Hyperextensibility at elbow- MedGen UID:
- 869381
- •Concept ID:
- C4023808
- •
- Anatomical Abnormality
The ability of the elbow joint to move beyond its normal range of motion.
Periarticular soft-tissue mass- MedGen UID:
- 1689016
- •Concept ID:
- C5209226
- •
- Finding
A lump detected in the region that surrounds a joint. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction.
Recurrent otitis media- MedGen UID:
- 155436
- •Concept ID:
- C0747085
- •
- Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Diminished circulating hyaluronidase activity- MedGen UID:
- 1052853
- •Concept ID:
- CN378321
- •
- Finding
The activity or concentration of hyaluronidase in the blood circulation is below the lower limit of normal.
Submucous cleft hard palate- MedGen UID:
- 98472
- •Concept ID:
- C0432103
- •
- Congenital Abnormality
Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.
Depressed nasal bridge- MedGen UID:
- 373112
- •Concept ID:
- C1836542
- •
- Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Bifid uvula- MedGen UID:
- 1646931
- •Concept ID:
- C4551488
- •
- Congenital Abnormality
Uvula separated into two parts most easily seen at the tip.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the immune system
- Abnormality of the musculoskeletal system
- Constitutional symptom
- Growth abnormality