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Items: 1 to 20 of 68

1.

Fibrosis

Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury. [from MeSH]

MedGen UID:
5179
Concept ID:
C0016059
Pathologic Function
2.

Congenital hepatic fibrosis

The presence of fibrosis of that part of the liver with congenital onset. [from HPO]

MedGen UID:
505294
Concept ID:
CN002374
Finding
3.

Hepatic fibrosis

The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. [from HPO]

MedGen UID:
116093
Concept ID:
C0239946
Disease or Syndrome
4.

Central

Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure. [from HPO]

MedGen UID:
59958
Concept ID:
C0205099
Spatial Concept
5.

Congenital hepatic fibrosis

Congenital hepatic fibrosis (CHF) is a developmental disorder of the portobiliary system characterized histologically by defective remodeling of the ductal plate (ductal plate malformation; DPM), abnormal branching of the intrahepatic portal veins, and progressive fibrosis of the portal tracts. CHF may or may not be associated with macroscopic cystic dilatation of the intrahepatic bile ducts. Clinical findings include enlarged, abnormally shaped liver, relatively well-preserved hepatocellular function, and portal hypertension (PH) resulting in splenomegaly, hypersplenism, and gastroesophageal varices. Pulmonary hypertension (portopulmonary hypertension) and vascular shunts in the pulmonary parenchyma (hepatopulmonary syndrome), complications of PH, can also be seen rarely. Most frequently CHF is associated with ciliopathies (disorders of the primary cilia) that have associated renal disease, the so-called hepatorenal fibrocystic diseases (FCDs). Although the hepatorenal FCDs are currently classified by phenotype, it is likely that gene-based classification will be quite different in the future because of the tremendous genetic and phenotypic overlap between these disorders. [from GTR]

MedGen UID:
40449
Concept ID:
C0009714
Congenital Abnormality; Disease or Syndrome
6.

Cirrhosis

MedGen UID:
351476
Concept ID:
C1623038
Disease or Syndrome
7.

Enlarged polycystic kidneys

The presence of multiple cysts in both kidneys. [from HPO]

MedGen UID:
291343
Concept ID:
C1567435
Anatomical Abnormality
8.

Caroli disease

A rare congenital disorder characterised 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 characterised 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 characterised by dilatations of the large bile duct associated with congenital hepatic fibrosis. The aetiology 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
9.

Cholangitis

An acute or chronic inflammatory process affecting the biliary tract. [from NCI]

MedGen UID:
40258
Concept ID:
C0008311
Disease or Syndrome
10.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
11.

Diagnosis

The determination of the nature of a disease or condition, or the distinguishing of one disease or condition from another. Assessment may be made through physical examination, laboratory tests, or the likes. Computerized programs may be used to enhance the decision-making process. [from MeSH]

MedGen UID:
8354
Concept ID:
C0011900
Finding
12.

Liver 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:
7368
Concept ID:
C0023890
Disease or Syndrome
13.

Renal cyst

A fluid filled sac in the kidney. [from HPO]

MedGen UID:
7215
Concept ID:
C0022679
Disease or Syndrome
14.

Hypertension

Blood pressure that is abnormally high. [from NCI]

MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
15.

Episodic

Applied to a sign, symptom, or other manifestation that occurs at least twice and potentially multiple times but separated by an interval in whichthe sign, symptom, or manifestation is not present. [from HPO]

MedGen UID:
910017
Concept ID:
CN240220
Organism Attribute
16.

Portal fibrosis

Fibroblast proliferation and fiber expansion from the portal areas to the lobule. [from HPO]

MedGen UID:
893107
Concept ID:
C3805083
Disease or Syndrome
17.

Hypertension

A finding of increased blood pressure; not necessarily hypertensive disorder [from SNOMEDCT_US]

MedGen UID:
635666
Concept ID:
C0497247
Finding
18.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
19.

Recurrent cholangitis

MedGen UID:
541066
Concept ID:
C0267922
Disease or Syndrome
20.

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
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