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Cystic Fibrosis (CUI C0010674) Suggest changes to this concept
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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.

MEDLINEPLUS Definition: 

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
CF
Cystic fibrosis (disorder)
Cystic Fibrosis [Disease/Finding]
Cystic fibrosis NOS
Cystic fibrosis, unspecified
cystic fibrosis
Fibrocystic disease
Fibrosis, Cystic
mucoviscidosis

External Source Codes: 
NCI Thesaurus Code C2975 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
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
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
CODE_ALSO exocrine pancreatic insufficiency (K86.81) ICD10CM
Contributing_Source MedDRA NCI
Contributing_Source NICHD NCI
CTV3ID C370. SNOMEDCT_US
DATE_CREATED 08/12/1999 MEDLINEPLUS
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1849-2089 CSP
DISEASE_IDENTIFIER_ID 18118 GARD
DISEASE_IDENTIFIER_ID 18119 GARD
DX 19670101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
EXTERNALLY_DEFINED N LNC
FX D018181 MSH
FX D019005 MSH
GENELOCUS ,7,q,3,1,.,2, OMIM
GENESYMBOL ABCC7 OMIM
GENESYMBOL CFTR OMIM
GENESYMBOL CF OMIM
GENESYMBOL MRP7 OMIM
GLOBAL_ID 190905008 LNC
GLOBAL_ID_CODE_SYSTEM SCT LNC
HAS_GARD_PAGE true GARD
HN 67; was PANCREATIC CYSTIC FIBROSIS 1963-66 MSH
IAN DEFAULT ICD10
ICE Fibrocystic disease of the pancreas; Mucoviscidosis ICD9CM
IDENTIFIER_TYPE_ID 1 GARD
INCLUSION_TERM mucoviscidosis ICD10
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2010-01-19T00:00:00 GARD
MDA 19990101 MSH
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
MESH_DUI D003550 NDFRT
MESH_NAME Cystic Fibrosis NDFRT
MESH_UI M0005551 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C06.689.202 MSH
MN C08.381.187 MSH
MN C16.320.190 MSH
MN C16.614.213 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
MP_HEALTH_TOPIC_URL https://www.nlm.nih.gov/medlineplus/cysticfibrosis.html MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Spanish https://www.nlm.nih.gov/medlineplus/spanish/cysticfibrosis.html MEDLINEPLUS
MP_PRIMARY_INSTITUTE_URL National Heart, Lung, and Blood Institute http://www.nhlbi.nih.gov/ MEDLINEPLUS
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Cystic Fibrosis NCI
NUI N0000000890 NDFRT
OL use CYSTIC FIBROSIS to search PANCREATIC CYSTIC FIBROSIS 1966 MSH
ORDER_NO 04745 ICD10CM
ORDER_NO 04751 ICD10CM
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
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/6233/cystic-fibrosis/resources/1 GARD
RXAUI 3137097 RXNORM
RXAUI 3137101 RXNORM
RXAUI 3199978 RXNORM
RXCUI 1022465 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 190905008 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E84.9 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~E84.9 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E84.9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | DESCENDANTS NOT EXHAUSTIVELY MAPPED SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E84.9 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~C370. SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T010315 MSH
TERMUI T010317 MSH
TH BIOETHICS (1981) MSH
TH GHR (2014) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TH UNK (19XX) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0010674

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