Congenital malformations of gallbladder, bile ducts and liver (Q44)
Clinical Information
Alagille Syndrome - A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2).
Caroli Disease - Congenital cystic dilatation of the intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC). It consists of 2 types: simple Caroli disease is characterized by bile duct dilatation (ectasia) alone; and complex Caroli disease is characterized by bile duct dilatation with extensive hepatic fibrosis and portal hypertension (HYPERTENSION, PORTAL). Benign renal tubular ectasia is associated with both types of Caroli disease.
Choledochal Cyst - A congenital anatomic malformation of a bile duct, including cystic dilatation of the extrahepatic bile duct or the large intrahepatic bile duct. Classification is based on the site and type of dilatation. Type I is most common.
Cone Dystrophy - A general term which describes a group of rare eye disorders that affect the cone cells of the RETINA. Cone dystrophy can cause a variety of symptoms including decreased visual clarity or acuity when looking straight ahead (central vision), a reduced ability to see colors, and an increased sensitivity to light (PHOTOPHOBIA).
Jagged-1 Protein - A serrate-jagged protein that functions as a ligand for NOTCH RECEPTORS. It may regulate CELL DIFFERENTIATION in HEMATOPOIESIS and PHYSIOLOGIC ANGIOGENESIS. Mutations in the Jagged-1 gene are associated with ALAGILLE SYNDROME 1.
Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
Other congenital malformations of the digestive system (Q38-Q45)
Q44 Congenital malformations of gallbladder, bile ducts and liver
- Q44.0 Agenesis, aplasia and hypoplasia of gallbladder
- Q44.1 Other congenital malformations of gallbladder
- Q44.2 Atresia of bile ducts
- Q44.3 Congenital stenosis and stricture of bile ducts
- Q44.4 Choledochal cyst
- Q44.5 Other congenital malformations of bile ducts
- Q44.6 Cystic disease of liver
Q44.7 Other congenital malformations of liver NEW CODE
- Q44.70 Other congenital malformation of liver, unspecified NEW CODE
- Q44.71 Alagille syndrome NEW CODE
- Q44.79 Other congenital malformations of liver NEW CODE
Congenital malformations of gallbladder, bile ducts and liver (Q44)