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  2. ICD-10-CM Codes List
  3. Q00-Q99
  4. Q38-Q45
  5. Congenital malformations of gallbladder, bile ducts and liver (Q44)

Congenital malformations of gallbladder, bile ducts and liver (Q44)

The ICD-10 code section Q44 covers a range of congenital malformations affecting the gallbladder, bile ducts, and liver. These codes are specifically used to identify inherited or present-at-birth structural abnormalities of these digestive organs, including absence, underdevelopment, abnormal shape, or cystic conditions.

For instance, Q44.0 addresses agenesis, aplasia, and hypoplasia of the gallbladder, conditions also known as congenital absence or underdevelopment of the gallbladder. The code Q44.1 covers other unusual gallbladder malformations such as duplication or septation, while Q44.2 identifies various forms of bile duct atresia, a serious condition where bile ducts are blocked or absent at birth. Additional codes like Q44.3 and Q44.4 are used for congenital stenosis of bile ducts and choledochal cysts, respectively, which cause bile flow obstructions. Liver malformations, including cystic disease (Q44.6) and syndromes like Alagille syndrome (Q44.71), are also classified here. These distinct codes help medical coders accurately report and diagnose congenital defects related to liver and biliary system abnormalities, facilitating specialized patient care and research.

Clinical Terms

The following clinical terms provide additional context, helping users better understand the clinical background and common associations for each diagnosis listed in this section. Including related terms alongside ICD-10-CM codes supports coders, billers, and healthcare professionals in improving accuracy, enhancing documentation, and facilitating research or patient education.

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.