loading...| Preferred Name |
Cystic Fibrosis |
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| Synonyms |
mucoviscidosis CF - Cystic fibrosis Fibrocystic disease Cystic Fibrosis [Disease/Finding] Fibrosis, Cystic Cystic fibrosis, unspecified Cystic fibrosis NOS cystic fibrosis Cystic fibrosis (disorder) |
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| Definitions |
[CSP Definition]: Most common potentially lethal autosomal recessive disease affecting Caucasians; characterized by chronic pulmonary, intestinal, liver, pancreatic, and exocrine gland dysfunction; caused by mutations of the CFTR chloride channel. [MSH Definition]: An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION. [NICHD Definition]: A congenital, autosomal, metabolic disorder affecting the exocrine glands. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production that causes obstruction of passageways, including pancreatic and bile ducts, intestines, and bronchi. Symptoms usually appear in childhood, and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather secondary to increased sodium and chloride concentration in sweat. [RADLEX Definition]: The cells that produce saliva, sweat, mucus and digestive juices are damaged in cystic fibrosis. Normally, these secretions are thin and slippery and act as a lubricant. But, in cystic fibrosis, these secretions become thick and sticky, causing blockage of ducts and passageways in the lungs and pancreas. [NCIt Definition]: A congenital, autosomal, metabolic disorder affecting the exocrine glands. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production that causes obstruction of passageways, including pancreatic and bile ducts, intestines, and bronchi. Symptoms usually appear in childhood, and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather secondary to increased sodium and chloride concentration in sweat. [NCI-GLOSS Definition]: A common hereditary disease in which exocrine (secretory) glands produce abnormally thick mucus. This mucus can cause problems in digestion, breathing, and body cooling. [GARD Definition]: Cystic fibrosis (CF) is an inherited condition that causes mucus to build up and clog some of the organs in the body, particularly in the lungs and pancreas. When mucus clogs the lungs, it can make breathing very difficult. The thick mucus also causes bacteria to get stuck in the airways, which causes inflammation and infections. These infections can cause chronic coughing, and wheezing. Over time, mucus buildup and infections can lead to permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs. Mucus can also block the digestive tract and pancreas, leading to digestive problems. CF is caused by mutations in the CFTR gene and is inherited in an autosomal recessive pattern. - this information is from GARD/ORDR/NCATS. |
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| ID |
http://pat.nichd.nih.gov/maternalconditions/C0010674 |
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| Definition |
[CSP Definition]: Most common potentially lethal autosomal recessive disease affecting Caucasians; characterized by chronic pulmonary, intestinal, liver, pancreatic, and exocrine gland dysfunction; caused by mutations of the CFTR chloride channel. [MSH Definition]: An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION. [NICHD Definition]: A congenital, autosomal, metabolic disorder affecting the exocrine glands. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production that causes obstruction of passageways, including pancreatic and bile ducts, intestines, and bronchi. Symptoms usually appear in childhood, and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather secondary to increased sodium and chloride concentration in sweat. [RADLEX Definition]: The cells that produce saliva, sweat, mucus and digestive juices are damaged in cystic fibrosis. Normally, these secretions are thin and slippery and act as a lubricant. But, in cystic fibrosis, these secretions become thick and sticky, causing blockage of ducts and passageways in the lungs and pancreas. [NCIt Definition]: A congenital, autosomal, metabolic disorder affecting the exocrine glands. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production that causes obstruction of passageways, including pancreatic and bile ducts, intestines, and bronchi. Symptoms usually appear in childhood, and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather secondary to increased sodium and chloride concentration in sweat. [NCI-GLOSS Definition]: A common hereditary disease in which exocrine (secretory) glands produce abnormally thick mucus. This mucus can cause problems in digestion, breathing, and body cooling. [GARD Definition]: Cystic fibrosis (CF) is an inherited condition that causes mucus to build up and clog some of the organs in the body, particularly in the lungs and pancreas. When mucus clogs the lungs, it can make breathing very difficult. The thick mucus also causes bacteria to get stuck in the airways, which causes inflammation and infections. These infections can cause chronic coughing, and wheezing. Over time, mucus buildup and infections can lead to permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs. Mucus can also block the digestive tract and pancreas, leading to digestive problems. CF is caused by mutations in the CFTR gene and is inherited in an autosomal recessive pattern. - this information is from GARD/ORDR/NCATS. |
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| External Source |
https://ncim.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI%20Metathesaurus&code=C0010674 |
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| Label |
Cystic Fibrosis |
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| notation |
C0010674 |
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| PAT ID |
C0010674 |
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| prefLabel |
Cystic Fibrosis |
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| Sub Class Of | ||
| Synonyms |
mucoviscidosis CF - Cystic fibrosis Fibrocystic disease Cystic Fibrosis [Disease/Finding] Fibrosis, Cystic Cystic fibrosis, unspecified Cystic fibrosis NOS cystic fibrosis Cystic fibrosis (disorder) |