icd 10 code for primary ciliary dyskinesia

by Lowell Waters Published 2 years ago Updated 1 year ago 10 min read

What is primary ciliary dyskinesia (PCD)?

The ICD code J980 is used to code Primary ciliary dyskinesia Primary ciliary dyskinesia (PCD), also immotile ciliary syndrome or Kartagener syndrome, is a rare, ciliopathic, autosomal …

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What does primary ciliary dyskinesia mean in medical terms?

Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella .Apr 1, 2014

How is primary ciliary dyskinesia diagnosed?

Diagnosis. Primary ciliary dyskinesia is diagnosed definitively through examination of lung or sinus tissue obtained from a biopsy or through genetic testing. Specific structural defects that are present in these tissues can be detected under an electron microscope.

Is primary ciliary dyskinesia?

Primary ciliary dyskinesia is caused by genetic mutations that affect the tiny hairline cilia in the lungs, nose and ears, impairing their ability to remove germs and pollutants, and allowing mucus buildup and infection.

Is primary ciliary dyskinesia the same as cystic fibrosis?

But the roots of the two diseases are different: PCD arises from a malfunction of the cilia, the cellular “brooms” that normally sweep mucus out of the respiratory tract. CF patients, in contrast, have trouble transporting salt and water across cell membranes, causing their bodies to produce abnormally sticky mucus.Feb 29, 2016

Is primary ciliary dyskinesia the same as Kartagener?

Kartagener syndrome is part of the larger group of disorders referred to as primary ciliary dyskinesias. Approximately one half of patients with primary ciliary dyskinesia have situs inversus and, thus, are classified as having Kartagener syndrome.Jun 12, 2020

What is primary ciliary dyskinesia in dogs?

What is Primary Ciliary Dyskinesia? Primary ciliary dyskinesia is a rare congenital defect where the ciliary throughout the body do not function properly. This can cause respiratory issues such as coughing, nasal congestion and exercise intolerance. In older male dogs, it can lead to infertility.

How is primary ciliary dyskinesia inherited?

Inheritance. Most cases of primary ciliary dyskinesia (PCD) are inherited in an autosomal recessive pattern. All individuals inherit two copies of each gene . To have PCD, a person must have a mutation in both copies of the responsible gene in each cell .

What is primary ciliary dyskinesia symptoms?

The most common respiratory symptoms of PCD are: Chronic wet cough producing sputum, from infancy, that lasts for four weeks or longer. Chronic nasal congestion including thick nasal drainage that may lead to sinusitis. Recurring pneumonia or chest colds.

What chromosome is primary ciliary dyskinesia found on?

A number sign (#) is used with this entry because of evidence that primary ciliary dyskinesia-1 (CILD1) is caused by compound heterozygous mutation in the DNAI1 gene (604366) on chromosome 9p13.

How many people in the United States have primary ciliary dyskinesia?

There are fewer than 1,000 patients in the United States with a well established diagnosis of PCD, because many providers do not appreciate the cardinal signs and symptoms, especially in infants and children.

Is primary ciliary dyskinesia fatal?

Many people who have PCD have normal lifespans. However, about 25% of people who have the disease may develop respiratory failure, a life-threatening condition.Mar 24, 2022

What is a ciliary dyskinesia?

Primary ciliary dyskinesia (PCD) is an inherited disorder which affects the movement of tiny hair-like structures on body cells, known as cilia. Cilia are present on many types of cells, and particularly on those in the respiratory tract. In PCD, the cilia are abnormal, and don’t move correctly. People with this disorder cannot clear the mucous and fluid in their lungs and airways. This leads to frequent respiratory infections, and continuous nasal congestion and coughing. In addition, because cilia are involved in how the organs form and develop, many people with PCD may have abnormal placement of the organs in the body, known as situs abnormalities. [1] [2] [3] For example, their heart may be on the right side of their chest instead of the left. Almost all males with PCD are infertile.

Is primary ciliary dyskinesia autosomal recessive?

Listen. Most cases of primary ciliary dyskinesia (PCD) are inherited in an autosomal recessive pattern. [1] [2] [3] All individuals inherit two copies of each gene. To have PCD, a person must have a mutation in both copies of the responsible gene in each cell.

Is ciliary dyskinesia life threatening?

The long-term outlook for people with primary ciliary dyskinesia (PCD) is dependent on severity of respiratory symptoms. Generally, PCD is not thought to be life-threatening, but severe lung and airway disease can lead to permanent damage.

How many people have ciliary dyskinesis?

It is thought that about 1/16,000 – 1/20,000 people have primary ciliary dyskinesis (PCD). The incidence is higher in Norway and Japan. In the United States, it is estimated that about 12-17 thousand people have PCD. [1]

How is PCD diagnosed?

It is diagnosed based on the clinical symptoms. Other diagnostic tests may include ciliary analysis and genetic testing .

What are some examples of PCD?

[6] . An example is having the heart on the right side of the chest instead of the left side.

What is the HPO database?

People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources.

Summary

Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella.

Clinical features

List of clinical features of the condition/phenotype displayed from sources such as the Human Phenotype Ontology (HPO) and OMIM. For more information about the disease, please go to the disease information page.