From HPO
Azoospermia- MedGen UID:
- 2150
- •Concept ID:
- C0004509
- •
- Disease or Syndrome
Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.
Infertility disorder- MedGen UID:
- 43876
- •Concept ID:
- C0021359
- •
- Finding
Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.
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.
Right aortic arch- MedGen UID:
- 48474
- •Concept ID:
- C0035615
- •
- Congenital Abnormality
Aorta descends on right instead of on the left.
Congenitally corrected transposition of the great arteries- MedGen UID:
- 87489
- •Concept ID:
- C0344616
- •
- Congenital Abnormality
The essence of the lesion is the combination of discordant atrioventricular and ventriculo-arterial connections. Thus, the morphologically right atrium is connected to a morphologically left ventricle across the mitral valve, with the left ventricle then connected to the pulmonary trunk. The morphologically left atrium is connected to the morphologically right ventricle across the tricuspid valve, with the morphologically right ventricle connected to the aorta.
Atrioventricular canal defect- MedGen UID:
- 235591
- •Concept ID:
- C1389016
- •
- Anatomical Abnormality
A defect of the atrioventricular septum of the heart.
Unbalanced atrioventricular canal defect- MedGen UID:
- 482570
- •Concept ID:
- C3280940
- •
- Finding
Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced).
Interrupted inferior vena cava with azygous continuation- MedGen UID:
- 868827
- •Concept ID:
- C4023237
- •
- Congenital Abnormality
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.
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.
Left Isomerism- MedGen UID:
- 1640720
- •Concept ID:
- C4703575
- •
- Congenital Abnormality
A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures.
Cough- MedGen UID:
- 41325
- •Concept ID:
- C0010200
- •
- Sign or Symptom
A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.
Decreased nasal nitric oxide- MedGen UID:
- 767344
- •Concept ID:
- C3554430
- •
- Finding
Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure.
Absent outer dynein arms- MedGen UID:
- 868590
- •Concept ID:
- C4022989
- •
- Finding
Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.
Reduced forced expiratory volume in one second- MedGen UID:
- 1687063
- •Concept ID:
- C5139283
- •
- Finding
An abnormal reduction in the amount of air a person can forcefully expel in one second.
Reduced respiratory ciliary beating frequency- MedGen UID:
- 1757199
- •Concept ID:
- C5421649
- •
- Finding
An abnormal reduction in the number of beats per unit time of the respiratory cilia.
Chronic sinusitis- MedGen UID:
- 101751
- •Concept ID:
- C0149516
- •
- Disease or Syndrome
A chronic form of sinusitis.
Chronic rhinitis- MedGen UID:
- 3086
- •Concept ID:
- C0008711
- •
- Disease or Syndrome
Chronic inflammation of the nasal mucosa.
- Abnormality of head or neck
- Abnormality of the cardiovascular system
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the respiratory system
- Growth abnormality