From HPO
Anuria- MedGen UID:
- 358
- •Concept ID:
- C0003460
- •
- Disease or Syndrome
Absence of urine, clinically classified as below 50ml/day.
Megacystis- MedGen UID:
- 343318
- •Concept ID:
- C1855311
- •
- Finding
Dilatation of the bladder postnatally.
Fetal megacystis- MedGen UID:
- 419338
- •Concept ID:
- C2931117
- •
- Disease or Syndrome
Fetal megacystis is an abnormally enlarged bladder identified at any gestational age.
Renal cortical hyperechogenicity- MedGen UID:
- 1770764
- •Concept ID:
- C5421632
- •
- Finding
Increased echogenecity of the kidney cortex.
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.
Thoracic aortic aneurysm- MedGen UID:
- 56525
- •Concept ID:
- C0162872
- •
- Anatomical Abnormality
An abnormal localized widening (dilatation) of the thoracic aorta.
Bidirectional shunt- MedGen UID:
- 507286
- •Concept ID:
- C0428872
- •
- Acquired Abnormality
Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa.
Elevated pulmonary artery pressure- MedGen UID:
- 812247
- •Concept ID:
- C3805917
- •
- Finding
An abnormally elevated blood pressure in the circulation of the pulmonary artery.
Abdominal distention- MedGen UID:
- 34
- •Concept ID:
- C0000731
- •
- Finding
Distention of the abdomen.
Prune belly syndrome- MedGen UID:
- 18718
- •Concept ID:
- C0033770
- •
- Disease or Syndrome
In its rare complete form, 'prune belly' syndrome (PBS) comprises megacystis (massively enlarged bladder) with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin (summary by Weber et al., 2011).
Ileal atresia- MedGen UID:
- 451021
- •Concept ID:
- C0266176
- •
- Congenital Abnormality
An abnormal closure, or atresia of the tubular structure of the ileum.
Microcolon- MedGen UID:
- 82734
- •Concept ID:
- C0266200
- •
- Congenital Abnormality
A colon of abnormally small caliber.
Sensorineural hearing loss disorder- MedGen UID:
- 9164
- •Concept ID:
- C0018784
- •
- Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Bronchomalacia- MedGen UID:
- 82679
- •Concept ID:
- C0264353
- •
- Disease or Syndrome
Weakness or softness of the cartilage in the walls of the bronchial tubes.
Pulmonary hypoplasia- MedGen UID:
- 78574
- •Concept ID:
- C0265783
- •
- Congenital Abnormality
A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.
Respiratory failure requiring assisted ventilation- MedGen UID:
- 870821
- •Concept ID:
- C4025279
- •
- Finding
A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation.
Peritonitis- MedGen UID:
- 14697
- •Concept ID:
- C0031154
- •
- Pathologic Function
Inflammation of the peritoneum.
Pyelonephritis- MedGen UID:
- 19590
- •Concept ID:
- C0034186
- •
- Disease or Syndrome
An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices.
Recurrent infections- MedGen UID:
- 65998
- •Concept ID:
- C0239998
- •
- Finding
Increased susceptibility to infections.
Oligohydramnios- MedGen UID:
- 86974
- •Concept ID:
- C0079924
- •
- Pathologic Function
Diminished amniotic fluid volume in pregnancy.
Mydriasis- MedGen UID:
- 10145
- •Concept ID:
- C0026961
- •
- Sign or Symptom
Abnormal dilatation of the iris.
- Abnormality of prenatal development or birth
- 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
- Ear malformation