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Items: 4

1.

Cirrhosis

A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. [from HPO]

MedGen UID:
504826
Concept ID:
CN001275
Finding
2.

Liver Cirrhosis

Cirrhosis is scarring of the liver. Scar tissue forms because of injury or long-term disease. Scar tissue cannot do what healthy liver tissue does - make protein, help fight infections, clean the blood, help digest food and store energy. Cirrhosis can lead to . -Easy bruising or bleeding, or nosebleeds. -Swelling of the abdomen or legs . -Extra sensitivity to medicines. -High blood pressure in the vein entering the liver. -Enlarged veins called varices in the esophagus and stomach. Varices can bleed suddenly. - Kidney failure. -Jaundice. -Severe itching. -Gallstones. A small number of people with cirrhosis get liver cancer. Your doctor will diagnose cirrhosis with blood tests, imaging tests, or a biopsy. Cirrhosis has many causes. In the United States, the most common causes are chronic alcoholism and hepatitis. Nothing will make the scar tissue disappear, but treating the cause can keep it from getting worse. If too much scar tissue forms, you may need to consider a liver transplant. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
7368
Concept ID:
C0023890
Disease or Syndrome
3.

Caroli disease, isolated

MedGen UID:
371590
Concept ID:
C1833541
Disease or Syndrome
4.

Caroli disease

A rare congenital disorder characterized by multifocal, segmental dilatation of the large intrahepatic bile ducts. It may present at any age and predominantly affects females. Less than 250 cases have been described worldwide. Caroli disease is characterized by bile ductal ectasia without other apparent hepatic abnormalities. It presents with recurrent bacterial cholangitis, biliary stones causing biliary pain or episodes of pancreatitis. The more common variant of this disease, named Caroli syndrome, is characterized by dilatations of the large bile duct associated with congenital hepatic fibrosis. The etiology of Caroli disease is unknown and its occurrence is sporadic, whereas Caroli syndrome is generally inherited in an autosomal recessive manner. [from SNOMEDCT_US]

MedGen UID:
57924
Concept ID:
C0162510
Congenital Abnormality; Disease or Syndrome
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