Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Takotsubo cardiomyopathy	HP_0011665	[Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation.]
Absent right superior vena cava	HP_0011666	[Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium.]
Right ventricular cardiomyopathy	HP_0011663	[Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease.]
Left ventricular noncompaction cardiomyopathy	HP_0011664	[Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.]
Cystoid macular degeneration	HP_0008028	[A form of macular degeneration characterized by the presence of multiple cysts in the macula.]
Horizontal opticokinetic nystagmus	HP_0008026
Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries	HP_0011678	[A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA).]
Tetralogy of Fallot with pulmonary stenosis	HP_0011679	[The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus.]
obsolete Congenital nuclear cataract	HP_0008024
Cardiac myxoma	HP_0011672	[A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origina and general project from the endocardium into a cardiac chamber.]
Posterior Y-sutural cataract	HP_0008031	[A type of sutural cataract in which the opacity follows the posterior Y suture.]
Cardiac hemangioma	HP_0011673	[Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium.]
Retinal arteritis	HP_0008030
Left superior vena cava draining to coronary sinus	HP_0011670	[A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence.]
Interrupted inferior vena cava with azygous continuation	HP_0011671	[Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava.]
Tetralogy of Fallot with absent subarterial conus	HP_0011676
Tetralogy of Fallot with atrioventricular canal defect	HP_0011677
Cardiac teratoma	HP_0011674	[A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumour size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone.]
Subepithelial corneal opacities	HP_0008039
Supraventricular tachycardia with a concealed accessory connection	HP_0011689	[Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed becasue it is not seen on the ECG during sinus rhythm.]