|Terms & Properties|
Concept Unique Identifier (CUI): C0010674
NCI Thesaurus Code: C2975 (see NCI Thesaurus info)
Semantic Type: Disease or Syndrome
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.
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.
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.
Cystic fibrosis (CF) is an inherited disease of the mucus and sweat glands. It affects mostly your lungs, pancreas, liver, intestines, sinuses and sex organs. CF causes your mucus to be thick and sticky. The mucus clogs the lungs, causing breathing problems and making it easy for bacteria to grow. This can lead to problems such as repeated lung infections and lung damage.
The symptoms and severity of CF vary widely. Some people have serious problems from birth. Others have a milder version of the disease that doesn't show up until they are teens or young adults.
Although there is no cure for CF, treatments have improved greatly in recent years. Until the 1980s, most deaths from CF occurred in children and teenagers. Today, with improved treatments, some people who have CF are living into their forties, fifties, or older.
NIH: National Heart, Lung, and Blood Institute
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.
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.
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.
Synonyms & Abbreviations: (see Synonym Details)
|CF - Cystic fibrosis|
|Cystic fibrosis (disorder)|
|Cystic Fibrosis [Disease/Finding]|
|Cystic fibrosis NOS|
|Cystic fibrosis, unspecified|
External Source Codes:
|NCI Thesaurus Code||C2975 (see NCI Thesaurus info)|
|AN||a specific disease entity: do not use for fibrocystic states of various organs||MSH|
|AQL||BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI||MSH|
|CODE_ALSO||exocrine pancreatic insufficiency (K86.81)||ICD10CM|
|HN||67; was PANCREATIC CYSTIC FIBROSIS 1963-66||MSH|
|ICE||Fibrocystic disease of the pancreas; Mucoviscidosis||ICD9CM|
|MESH_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.||NDFRT|
|MIMTYPEMEANING||Phenotype description, molecular basis known.||OMIM|
|MP_PRIMARY_INSTITUTE_URL||National Heart, Lung, and Blood Institute http://www.nhlbi.nih.gov/||MEDLINEPLUS|
|OL||use CYSTIC FIBROSIS to search PANCREATIC CYSTIC FIBROSIS 1966||MSH|
|PM||67; was PANCREATIC CYSTIC FIBROSIS 1963-66||MSH|
|PRIMARY_PATH||10011762$10025039$10038686$10010331$Cystic fibrosis$Pulmonary and bronchial disorders congenital$Respiratory disorders congenital$Congenital, familial and genetic disorders||MDR|
|SUBSET_MEMBER||6011000124106~MAPADVICE~ALWAYS E84.9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | DESCENDANTS NOT EXHAUSTIVELY MAPPED||SNOMEDCT_US|
Additional Concept Data: (none)