From HPO
Horseshoe kidney- MedGen UID:
- 65140
- •Concept ID:
- C0221353
- •
- Congenital Abnormality
A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.
Ureteral duplication- MedGen UID:
- 66380
- •Concept ID:
- C0221365
- •
- Congenital Abnormality
A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.
Ectopic kidney- MedGen UID:
- 68661
- •Concept ID:
- C0238207
- •
- Congenital Abnormality
A developmental defect in which a kidney is located in an abnormal anatomic position.
Renal agenesis- MedGen UID:
- 154237
- •Concept ID:
- C0542519
- •
- Congenital Abnormality
Agenesis, that is, failure of the kidney to develop during embryogenesis and development.
Absent radius- MedGen UID:
- 235613
- •Concept ID:
- C1405984
- •
- Congenital Abnormality
Missing radius bone associated with congenital failure of development.
Forearm undergrowth- MedGen UID:
- 383651
- •Concept ID:
- C1855299
- •
- Anatomical Abnormality
Forearm shortening because of underdevelopment of one or more bones of the forearm.
Absent thumb- MedGen UID:
- 480441
- •Concept ID:
- C3278811
- •
- Finding
Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.
Bowed forearm bones- MedGen UID:
- 871017
- •Concept ID:
- C4025481
- •
- Anatomical Abnormality
A bending or abnormal curvature affecting either the radius, the ulna, or both.
Vascular dilatation- MedGen UID:
- 8076
- •Concept ID:
- C0002940
- •
- Pathologic Function
Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.
Hydrocephalus- MedGen UID:
- 9335
- •Concept ID:
- C0020255
- •
- Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Lateral ventricle dilatation- MedGen UID:
- 383904
- •Concept ID:
- C1856409
- •
- Pathologic Function
Ventriculomegaly- MedGen UID:
- 480553
- •Concept ID:
- C3278923
- •
- Finding
An increase in size of the ventricular system of the brain.
- Abnormality of limbs
- Abnormality of the cardiovascular system
- Abnormality of the genitourinary system
- Abnormality of the nervous system