From HPO
Patent foramen ovale- MedGen UID:
- 8891
- •Concept ID:
- C0016522
- •
- Congenital Abnormality
Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.
Cardiomegaly- MedGen UID:
- 5459
- •Concept ID:
- C0018800
- •
- Finding
Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.
Right aortic arch- MedGen UID:
- 48474
- •Concept ID:
- C0035615
- •
- Congenital Abnormality
Aorta descends on right instead of on the left.
Persistent left superior vena cava- MedGen UID:
- 75586
- •Concept ID:
- C0265931
- •
- Congenital Abnormality
A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress.
Perimembranous ventricular septal defect- MedGen UID:
- 87490
- •Concept ID:
- C0344925
- •
- Congenital Abnormality
A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs.
Common atrium- MedGen UID:
- 488886
- •Concept ID:
- C0392482
- •
- Congenital Abnormality
Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections.
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.
Situs inversus- MedGen UID:
- 1642262
- •Concept ID:
- C4551493
- •
- Congenital Abnormality
A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs.
Abdominal situs inversus- MedGen UID:
- 52359
- •Concept ID:
- C0037221
- •
- Congenital Abnormality
A left-right reversal (or mirror reflection) of the anatomical location of the viscera of the abdomen.
Cerebellar vermis hypoplasia- MedGen UID:
- 333548
- •Concept ID:
- C1840379
- •
- Finding
Underdevelopment of the vermis of cerebellum.
Dilated fourth ventricle- MedGen UID:
- 376050
- •Concept ID:
- C1847117
- •
- Finding
An abnormal dilatation of the fourth cerebral ventricle.
Respiratory insufficiency- MedGen UID:
- 11197
- •Concept ID:
- C0035229
- •
- Pathologic Function
Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.
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.
Chronic sinusitis- MedGen UID:
- 101751
- •Concept ID:
- C0149516
- •
- Disease or Syndrome
A chronic form of sinusitis.
Polysplenia- MedGen UID:
- 383959
- •Concept ID:
- C1856659
- •
- Congenital Abnormality
Polysplenia is a congenital disease manifested by multiple small accessory spleens.
Hypoplastic spleen- MedGen UID:
- 410116
- •Concept ID:
- C1970617
- •
- Anatomical Abnormality
Underdevelopment of the spleen.
Ductus venosus agenesis- MedGen UID:
- 811050
- •Concept ID:
- C2363934
- •
- Congenital Abnormality
A developmental defect characterized by lack of formation of the ductus venosus (a shunt that allows oxygenated blood in the umbilical vein to bypass the liver in the fetal circulation).
- Abnormality of prenatal development or birth
- Abnormality of the cardiovascular system
- Abnormality of the immune system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Growth abnormality