From HPO
Reduced progressive sperm motility- MedGen UID:
- 1730031
- •Concept ID:
- C5436680
- •
- Finding
A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increased proportion of sperm that move in tight circles or in some other non-linear fashion.
Primum atrial septal defect- MedGen UID:
- 83374
- •Concept ID:
- C0344735
- •
- Congenital Abnormality
An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum.
Partial atrioventricular canal- MedGen UID:
- 868879
- •Concept ID:
- C4023290
- •
- Congenital Abnormality
A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices.
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.
Intestinal malrotation- MedGen UID:
- 113153
- •Concept ID:
- C0221210
- •
- Congenital Abnormality
An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.
Duodenal atresia- MedGen UID:
- 75602
- •Concept ID:
- C0266174
- •
- Congenital Abnormality
A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.
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.
Chronic sinusitis- MedGen UID:
- 101751
- •Concept ID:
- C0149516
- •
- Disease or Syndrome
A chronic form of sinusitis.
Chronic otitis media- MedGen UID:
- 75751
- •Concept ID:
- C0271441
- •
- Disease or Syndrome
Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.
Polysplenia- MedGen UID:
- 383959
- •Concept ID:
- C1856659
- •
- Congenital Abnormality
Polysplenia is a congenital disease manifested by multiple small accessory spleens.
Asthenopia- MedGen UID:
- 2108
- •Concept ID:
- C0004095
- •
- Sign or Symptom
Eye strain, i.e., a feeling of fatigue or discomfort of the eyes related to 'overuse' of the eyes in activities such as reading or working at the computer and often accompanied by lacrimation or headache.
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the respiratory system