HPO
Db Link Name Definition Comment Is a
HPO HP:0011593 Left aortic arch with retroesophageal diverticulum of Kommerell "A patent ductus arteriosus or ductal ligament completes the ring." [DDD:dbrown] HP:0031055
HPO HP:0011594 Right aortic arch with retroesophageal diverticulum of Kommerell "Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch." [DDD:dbrown, PMID:12075866] HP:0012020
HPO HP:0011595 Left aortic arch with retroesophageal right subclavian artery "Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body." [DDD:dbrown] HP:0031055
HPO HP:0011596 Left aortic arch with right descending aorta and right ductus arteriosus "The ring may be completed by the ductal ligament." [DDD:dbrown] HP:0031055
HPO HP:0011597 Right aortic arch with left descending aorta and left ductus arteriosus HP:0012020
HPO HP:0011598 Right aortic arch with retroesophageal left subclavian artery HP:0012020
HPO HP:0011599 Mesocardia "Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane." [DDD:dbrown, HPO:probinson] HP:0004307
HPO HP:0011600 Abnormal direction of ventricular apex "Abnormal plane of direction of the heart from the base to the apex. Left sided is normal." [DDD:dbrown] HP:0004307
HPO HP:0011601 Rightward direction of ventricular apex "Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal." [DDD:dbrown] HP:0011600
HPO HP:0011602 Midline direction of ventricular apex "Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal." [DDD:dbrown] HP:0011600
HPO HP:0011603 Congenital malformation of the great arteries "Defect or defects of the morphogenesis of the aorta and pulmonary arteries." [] HP:0030962
HPO HP:0011604 Aortopulmonary window "A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt." [DDD:dbrown, HPO:probinson] HP:0011603
HPO HP:0011605 Congenitally corrected transposition of the great arteries with ventricular septal defect "A congenitally corrected transposition of the great arteries with a ventricular septal defect: a hole between the two bottom chambers (ventricles) of the heart. The ventricular septal defect is centered around the most superior aspect of the ventricular septum." [PMID:21569592, PMID:27777298, PMID:32274202] HP:0011540
HPO HP:0011606 obsolete Transposition of the great arteries with intact ventricular septum
HPO HP:0011607 obsolete Transposition of the great arteries with ventricular septal defect
HPO HP:0011608 Type II truncus arteriosus "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus." [DDD:dbrown, HPO:probinson] According to the Van Praagh classification (PMID:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect. HP:0001660
HPO HP:0011609 Type III truncus arteriosus "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta." [DDD:dbrown, HPO:probinson] According to the Van Praagh classification (PMID:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect. HP:0001660
HPO HP:0011610 Type IV truncus arteriosus "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present." [DDD:dbrown, HPO:probinson] According to the Van Praagh classification (PMID:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect. HP:0001660
HPO HP:0011611 Interrupted aortic arch "Non-continuity of the arch of aorta with an atretic point or absent segment." [DDD:dbrown] HP:0012303
HPO HP:0011612 Interrupted aortic arch type A "Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus." [DDD:dbrown] HP:0011611
HPO HP:0011613 Interrupted aortic arch type B "Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries." [DDD:dbrown] HP:0011611
HPO HP:0011614 Interrupted aortic arch type C "Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries." [DDD:dbrown] HP:0011611
HPO HP:0011615 Abnormal pulmonary situs morphology "An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi." [DDD:dbrown] HP:4000059
HPO HP:0011616 Pulmonary situs inversus "Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus." [DDD:dbrown] HP:0011615
HPO HP:0011617 Pulmonary situs ambiguus "An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same." [DDD:dbrown] HP:0011615