Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch (disorder) |
Associated morphology |
False |
Persistent embryonic structure |
Inferred relationship |
Some |
4 |
Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch (disorder) |
Associated morphology |
False |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Persistent Gartner's duct |
Associated morphology |
False |
Persistent embryonic structure |
Inferred relationship |
Some |
2 |
Patent ductus arteriosus with normal origin and insertion (disorder) |
Associated morphology |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Patent foramen ovale |
Associated morphology |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Common arterial trunk with aortic dominance (disorder) |
Associated morphology |
False |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Persisting fifth aortic arch with atresia of fourth arch (disorder) |
Associated morphology |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. |
Associated morphology |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
2 |
Common arterial trunk and separate origin of pulmonary arteries (disorder) |
Associated morphology |
False |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Common arterial trunk with obstruction of aortic arch (disorder) |
Associated morphology |
False |
Persistent embryonic structure |
Inferred relationship |
Some |
2 |
Common arterial trunk with pulmonary origin from truncal valve sinus (disorder) |
Associated morphology |
False |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Truncus arteriosus, Edwards' type IV |
Associated morphology |
False |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Common arterial trunk with isolated pulmonary artery (disorder) |
Associated morphology |
False |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Common arterial trunk with crossed over pulmonary arteries (disorder) |
Associated morphology |
False |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Common arterial trunk with pulmonary arteries arising from trunk and unobstructed aortic arch (disorder) |
Associated morphology |
False |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Common arterial trunk and widely separate origin of pulmonary arteries (disorder) |
Associated morphology |
False |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
A rare congenital anomaly of the inferior vena cava characterized by the postnatal presence of a eustachian valve remnant, which may be asymptomatic and considered a normal variant or prominent and clinically significant. Clinical presentation is variable and includes obstruction of the inferior vena cava, cyanosis, thrombosis, pulmonary embolism, infective endocarditis, and when combined with persistent foramen ovale, it may generate permanent right-to-left shunt. |
Associated morphology |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Infection of preauricular sinus (disorder) |
Associated morphology |
False |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Persistent truncus arteriosus (morphologic abnormality) |
Is a |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
|
A rare, genetic, vascular disease characterized by congenital dysfunction of smooth muscle throughout the body, manifesting with cerebrovascular disease, aortic anomalies, intestinal hypoperistalsis, hypotonic bladder, and pulmonary hypertension. Congenital mid-dilated pupils non-reactive to light associated with a large, persistent patent ductus arteriosus are characteristic hallmarks of the disease. |
Associated morphology |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
A rare, life-threatening, congenital, non-syndromic, conotruncal heart malformation disease characterized by absent or severely undeveloped pulmonary valve leaflets (with a restrictive ring of thickened tissue at the place of the pulmonary valve annulus), associated with an intact ventricular septum and a patent ductus arteriosus, manifesting with marked respiratory insufficiency. Additional features include dilated main pulmonary artery (with or without dilatation of pulmonary artery branches), to-and-fro flow at site of the dysplastic pulmonary valve, and systolic pressure gradient across narrowed pulmonary valve. Tricuspid atresia and variable extra-cardiac anomalies (e.g. diaphragmatic hernia or cleft lip/palate), may be present. |
Associated morphology |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Persistent vertical vein |
Associated morphology |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Tubule of paroophoron |
Associated morphology |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Persistent descending vein |
Associated morphology |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Vestigial gastrointestinal remnant |
Associated morphology |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Patent ductus venosus |
Associated morphology |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Paroophoron |
Associated morphology |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Venous remnant |
Associated morphology |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Ecchordosis physaliphora |
Associated morphology |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Choriovitelline placenta |
Associated morphology |
False |
Persistent embryonic structure |
Inferred relationship |
Some |
2 |
Persistent hyperplastic primary vitreous of right eye |
Associated morphology |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Persistent hyperplastic primary vitreous of left eye (disorder) |
Associated morphology |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Residual patency of arterial duct following patent ductus arteriosus repair |
Associated morphology |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Common arterial trunk with pulmonary dominance and aortic coarctation |
Associated morphology |
False |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Common arterial trunk with pulmonary dominance (disorder) |
Associated morphology |
False |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Persistent hyperplastic primary vitreous of bilateral eyes (disorder) |
Associated morphology |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Persistent hyperplastic primary vitreous of bilateral eyes (disorder) |
Associated morphology |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
2 |
Intra-abdominal vitelline remnant |
Associated morphology |
False |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Intra-abdominal vitelline remnant |
Associated morphology |
False |
Persistent embryonic structure |
Inferred relationship |
Some |
2 |
Remnant of vitelline vein (disorder) |
Associated morphology |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Remnant of vitelline artery |
Associated morphology |
False |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Infection of urachal remnant (disorder) |
Associated morphology |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
2 |
Urachal sinus (disorder) |
Associated morphology |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
2 |
Infection of urachal sinus |
Associated morphology |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities. |
Associated morphology |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Myelinated nerve fiber layer (morphologic abnormality) |
Is a |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
|
Congenital prepapillary vascular loop |
Associated morphology |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
A rare congenital vascular malformation of the major vessels with characteristics of a persistent left superior vena cava that drains through the left coronary sinus to the left atrium. Patients are usually asymptomatic and this is discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatriatum) and risk of paradoxical embolisation may be associated. |
Associated morphology |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
A rare closed dysraphism with terminal stalk with characteristics of persistant rudimentary spinal cord below conus. It contains non-functional neural tissue and is typically isolated. The diagnostic is suggested by attenuated conus without fat, further confirmed by pathological analysis (glioneuronal core with ependyma-lined lumen, nerve roots, and dorsal root ganglia). Differential diagnostic with intraoperative neurophysiological monitoring is mandatory as neuroimaging fails to distinguish it from functional conus. |
Associated morphology |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Repair of persistent cloaca (procedure) |
Direct morphology |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |
Persistent embryonic vitelline duct (morphologic abnormality) |
Is a |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
|
Naso-palatine duct cyst |
Associated morphology |
True |
Persistent embryonic structure |
Inferred relationship |
Some |
1 |