From HPO
Hydronephrosis- MedGen UID:
- 42531
- •Concept ID:
- C0020295
- •
- Disease or Syndrome
Severe distention of the kidney with dilation of the renal pelvis and calices.
Bilateral talipes equinovarus- MedGen UID:
- 332956
- •Concept ID:
- C1837835
- •
- Congenital Abnormality
Bilateral clubfoot deformity.
Broad distal phalanx of finger- MedGen UID:
- 342551
- •Concept ID:
- C1850630
- •
- Finding
Abnormally wide (broad) distal phalanx of finger.
Bowed humerus- MedGen UID:
- 395269
- •Concept ID:
- C1859460
- •
- Finding
A bending or abnormal curvature of the humerus.
Failure to thrive- MedGen UID:
- 746019
- •Concept ID:
- C2315100
- •
- Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Gastrojejunal tube feeding in infancy- MedGen UID:
- 896852
- •Concept ID:
- C4280681
- •
- Finding
Feeding problem necessitating gastrojejunal tube feeding.
Recurrent fractures- MedGen UID:
- 42094
- •Concept ID:
- C0016655
- •
- Injury or Poisoning
The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).
Micrognathia- MedGen UID:
- 44428
- •Concept ID:
- C0025990
- •
- Congenital Abnormality
Developmental hypoplasia of the mandible.
Osteopenia- MedGen UID:
- 18222
- •Concept ID:
- C0029453
- •
- Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Wrist flexion contracture- MedGen UID:
- 592338
- •Concept ID:
- C0409345
- •
- Acquired Abnormality
A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.
Proximal radio-ulnar synostosis- MedGen UID:
- 436690
- •Concept ID:
- C2676443
- •
- Finding
An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna.
Recurrent pneumonia- MedGen UID:
- 195802
- •Concept ID:
- C0694550
- •
- Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Midface retrusion- MedGen UID:
- 339938
- •Concept ID:
- C1853242
- •
- Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Polyhydramnios- MedGen UID:
- 6936
- •Concept ID:
- C0020224
- •
- Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Corneal opacity- MedGen UID:
- 40485
- •Concept ID:
- C0010038
- •
- Finding
A reduction of corneal clarity.
Sclerocornea- MedGen UID:
- 344000
- •Concept ID:
- C1853235
- •
- Disease or Syndrome
A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of prenatal development or birth
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Abnormality of the respiratory system
- Growth abnormality