icd 10 code for alagille syndrome

What are the diagnosis index entries for Alagille's syndrome?

Diagnosis Index entries containing back-references to Q44.7: Absence (of) (organ or part) (complete or partial) liver Q44.7 (congenital) Accessory (congenital) liver Q44.7 Agenesis hepatic Q44.7 Alagille's syndrome Q44.7 Anomaly, anomalous (congenital) (unspecified type) Q89.9 ICD-10-CM Diagnosis Code Q89.9

What is Alagille syndrome?

Alagille syndrome. Alagille syndrome, Alagille-Watson syndrome or ALGS, is an autosomal dominant genetic disorder that affects the liver, heart, kidney, and other systems of the body. Problems associated with the disorder generally become evident in infancy or early childhood.

What is the ICD 10 code for congenital malformations of liver?

Other congenital malformations of liver 1 Q44.7 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. 2 The 2019 edition of ICD-10-CM Q44.7 became effective on October 1, 2018. 3 This is the American ICD-10-CM version of Q44.7 - other international versions of ICD-10 Q44.7 may differ.

Which congenital malformations of liver are caused by Alagille syndrome?

Other congenital malformations of liver. 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).

What is alagille syndrome?

Alagille syndrome — also known as Alagille-Watson syndrome, syndromic bile duct paucity and arteriohepatic dysplasia — is an inherited liver disorder that also affects the heart, eyes, bones, kidneys, vasculature and other organs.

How is Alagille syndrome inherited?

Inheritance. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered or deleted gene in each cell is sufficient to cause the disorder. In approximately 30 to 50 percent of cases, an affected person inherits the mutation or deletion from one affected parent .

How is Alagille syndrome treated?

Specific treatments for Alagille syndrome may include: Medicine to increase bile flow out of the liver. Medicine to relieve itching sensations. Skin care, such as moisturizers, to reduce itching.

What is the ICD-10 code for history of spina bifida?

The ICD-10 Code for spina bifida is Q05. 9.

What causes Alagille syndrome?

What causes Alagille syndrome? Gene mutations link cause Alagille syndrome. Mutations of a gene called JAG1 cause most cases of Alagille syndrome. Mutations of a gene called NOTCH2 cause 1 to 2 percent of cases of Alagille syndrome.

How long do people with Alagille syndrome live?

Many people with Alagille syndrome have only mild symptoms and can lead normal lives with normal life expectancy. However, others have severe and even life-threatening complications such as liver failure, serious heart defects, and bleeding or stroke due to blood vessel problems.

How is Alagille syndrome diagnosed?

During a liver biopsy, a doctor will take small pieces of tissue from your liver. A pathologist will examine the tissue under a microscope to look for features of specific liver diseases, such as Alagille syndrome, and check for liver damage and cirrhosis.

Is Alagille syndrome curable?

This causes a decrease in the flow of bile out of the liver which leads to reduced digestion of dietary fat and vitamins (A, D, E, K). The key clinical features are poor growth, itching, and progressive liver injury. There is no specific treatment for Alagille syndrome.

Who treats Alagille syndrome?

Doctors may refer people with Alagille syndrome to a hepatologist, a doctor who specializes in liver diseases, to treat liver symptoms and complications. Doctors may also refer patients to specialists who focus on other parts of the body, such as the heart, blood vessels, or kidneys.

What is the ICD-10 code for congenital anomalies?

If coded, the ICD-10 code is Q89. 9 (Congenital malformation, unspecified).

What is the ICD-10-CM code for spina bifida occulta?

ICD-10 code Q76. 0 for Spina bifida occulta is a medical classification as listed by WHO under the range - Congenital malformations, deformations and chromosomal abnormalities .

Which of the following conditions would be reported with Code Q65 81?

Which of the following conditions would be reported with code Q65. 81? Imaging of the renal area reveals congenital left renal agenesis and right renal hypoplasia.

What is the cause of Alagille syndrome?

Alagille syndrome may result from heterogeneous gene mutations, including mutations in jag1 on chromosome 20 (type 1) and notch2 on chromosome 1 (type 2) . An autosomal dominant genetic syndrome caused by mutations in the jag1 gene.

What are the major abnormalities of a person?

Major abnormalities include characteristic facies (pro minent forehead, deeply set eyes, hypertelorism, straight nose, and pointed chin) sometimes referred to as cholestasis facies, hoarse voice, and a wide variety of other disorders. Moderate mental retardation occurs in about 15 %.

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Clinical description

The disease may manifest in newborns by prolonged jaundice due to conjugated hyperbilirubinemia, and/or cardiac signs and symptoms. Cardiac abnormalities include pulmonary atresia or stenosis, atrial and/or ventricular septal defects, tetralogy of Fallot, and patent ductus arteriosus (see these terms).

Etiology

AGS is most commonly due to JAG1 (20p12) gene mutations (AGS type 1), encoding a Notch signaling pathway ligand. AGS type 2 is due to NOTCH2 gene mutations (1p12).

Diagnostic methods

The diagnosis is based on the clinical picture and liver biopsy revealing chronic cholestasis and paucity of interlobular bile ducts. Imaging (abdominal ultrasonography, cholangiography) helps to identify biliary anatomy. Screening for ophthalmic, skeletal, vascular and endocrine (thyroid) abnormalities should be performed.

Differential diagnosis

Differential diagnoses include biliary atresia, congenital hepatic fibrosis, cystic fibrosis, neonatal jaundice, polycystic kidney disease, progressive familial intrahepatic cholestasis, and tyrosinemia (see these terms).

Antenatal diagnosis

If a pathogenic mutation has been identified, prenatal genetic diagnosis is possible on DNA from chorionic villous tissue or cultured amniocytes. Otherwise, detailed fetal ultrasonography may identify cardiac and/or renal anomalies if present.

Genetic counseling

Transmission is autosomal dominant, but reduced penetrance (up to 50% of cases) and somatic mosaicism (~8%) are common.

What is the specialty of Alagille syndrome?

Specialty. Medical genetics, Gastroenterology, Cardiology. Alagille syndrome is a genetic disorder that affects primarily the liver and the heart. Problems associated with the disorder generally become evident in infancy or early childhood. The disorder is inherited in an autosomal dominant pattern, and the estimated prevalence ...

How many people have Alagille syndrome?

The disorder is inherited in an autosomal dominant pattern, and the estimated prevalence of Alagille syndrome is 1 in every 30,000 to 1 in every 40,000 live births. It is named after the French pediatrician Daniel Alagille, who first described the condition in 1969.

What is the genetic disorder of the liver?

Alagille syndrome. Alagille syndrome is a genetic disorder that affects primarily the liver and the heart. Problems associated with the disorder generally become evident in infancy or early childhood. The disorder is inherited in an autosomal dominant pattern, and the estimated prevalence of Alagille syndrome is 1 in every 30,000 ...

What are the features of ALGS?

Many people with ALGS have similar facial features, including a broad, prominent forehead, deep-set eyes, and a small pointed chin.

How many mutated genes are there in an ALGS patient?

In the autosomal recessive case, the ALGS patient must inherit two mutated genes: one from each parent. Although about 40% of the mutations are inherited from affected parents, most cases result from new, acquired mutations. These are caused by environmental factors that mutate one copy of the gene.

What are the skeletal defects of ALGS?

Other skeletal defects common in ALGS patients are spina bifida and the fusion of vertebrae. Most of the ophthalmological defects affect the anterior chamber of the eyeball, including Axenfeld's anomaly and Rieger anomaly, but retina pigment changes are also common.

Is liver failure common in ALGS patients?

Cirrhosis and eventual liver failure is fairly common among ALGS patients, and 15% of those with severe hepatic manifestations require a liver transplant. Hepatocellular cancer has been reported in a small number of cases, but it is extremely rare.