From HPO
Cryptorchidism- MedGen UID:
- 8192
- •Concept ID:
- C0010417
- •
- Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
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.
Patent ductus arteriosus- MedGen UID:
- 4415
- •Concept ID:
- C0013274
- •
- Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Atrial septal defect- MedGen UID:
- 6753
- •Concept ID:
- C0018817
- •
- Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Hypertensive disorder- MedGen UID:
- 6969
- •Concept ID:
- C0020538
- •
- Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Thoracic aortic aneurysm- MedGen UID:
- 56525
- •Concept ID:
- C0162872
- •
- Anatomical Abnormality
An abnormal localized widening (dilatation) of the thoracic aorta.
Common carotid artery aneurysm- MedGen UID:
- 538980
- •Concept ID:
- C0264965
- •
- Anatomical Abnormality
An abnormal widening (dilatation) of the common carotid artery.
Pulmonary artery dilatation- MedGen UID:
- 140900
- •Concept ID:
- C0428851
- •
- Disease or Syndrome
An abnormal widening of the diameter of the pulmonary artery.
Aortic arch aneurysm- MedGen UID:
- 852900
- •Concept ID:
- C0856748
- •
- Anatomical Abnormality
An abnormal localized widening (dilatation) of the aortic arch.
Pulmonary arterial hypertension- MedGen UID:
- 425404
- •Concept ID:
- C2973725
- •
- Disease or Syndrome
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
Dilatation of the cerebral artery- MedGen UID:
- 1386760
- •Concept ID:
- C4476540
- •
- Anatomical Abnormality
The presence of a localized dilatation or ballooning of a cerebral artery.
Dilated left subclavian artery- MedGen UID:
- 1614246
- •Concept ID:
- C4531247
- •
- Anatomical Abnormality
Abnormally increased caliber of the left subclavian artery.
Brachiocephalic artery aneurysm- MedGen UID:
- 1815076
- •Concept ID:
- C5706170
- •
- Anatomical Abnormality
An abnormal widening (dilatation) of the brachiocephalic artery
Intestinal malrotation- MedGen UID:
- 113153
- •Concept ID:
- C0221210
- •
- Congenital Abnormality
An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.
Hypoperistalsis- MedGen UID:
- 451002
- •Concept ID:
- C0232475
- •
- Finding
Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract.
Periventricular white matter hyperintensities- MedGen UID:
- 927595
- •Concept ID:
- C4293686
- •
- Finding
Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.
Dysgyria- MedGen UID:
- 1690926
- •Concept ID:
- C5139317
- •
- Congenital Abnormality
An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation.
Tachypnea- MedGen UID:
- 66669
- •Concept ID:
- C0231835
- •
- Finding
Very rapid breathing.
Mydriasis- MedGen UID:
- 10145
- •Concept ID:
- C0026961
- •
- Sign or Symptom
Abnormal dilatation of the iris.
Retinal infarction- MedGen UID:
- 892492
- •Concept ID:
- C0281967
- •
- Disease or Syndrome
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the nervous system
- Abnormality of the respiratory system