Cystic fibrosis

Preferred Label : Cystic fibrosis;

Symbol : CF;

CISMeF acronym : CF;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MUCOVISCIDOSIS;

Description : Formerly known as cystic fibrosis of the pancreas, this entity has increasingly been labeled simply 'cystic fibrosis.' Manifestations relate not only to the disruption of exocrine function of the pancreas but also to intestinal glands (meconium ileus), biliary tree (biliary cirrhosis), bronchial glands (chronic bronchopulmonary infection with emphysema), and sweat glands (high sweat electrolyte with depletion in a hot environment). Infertility occurs in males and females. For discussion of a phenotype consisting of bronchiectasis with or without elevated sweat chloride caused by mutation in the genes encoding the 3 subunits of the epithelial sodium channel, see BESC1 (211400).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR, 602421.0001);

Laboratory abnormalities : High sweat sodium and chloride; Hyponatremic dehydration, rarely; Hypercalciuria; Abnormal nasal potential differences; High newborn serum levels of immunoreactive trypsinogen;

Prefixed ID : #219700;

Details

Origin ID

219700;

UMLS CUI

C0010674;

Automatic exact mappings (from CISMeF team)
- CFTR wt Allele [NCIt concept]
- Central African Republic [NCIt concept]
- Cystic fibrosis [ICD-9 code]
- With Food [NCIt concept]
- cerebrospinal fluid [MeSH Qualifier]
- chronic fatigue syndrome [MedlinePlus Topic]
- cystic fibrosis [EMDN type]
- endocrine/metabolic/nutritional disease other [ICPC-2 Rubric]
- symbol withdrawn CF [HGNC gene]
Currated CISMeF NLP mapping
- CYSTIC FIBROSIS PANCREATIC [WHO-ART Included Term]
- Cystic Fibrosis [NCIt concept]
- Cystic fibrosis [PASCAL descriptor]
- Cystic fibrosis [ICD-10 category]
- Cystic fibrosis [ICD-11 Category]
- Cystic fibrosis [HPMULTI term]
- Cystic fibrosis [ICD-10 category (who)]
- Cystic fibrosis [LOINC component]
- Cystic fibrosis [MedDRA Preferred Term]
- Cystic fibrosis [ORDO Disease]
- Cystic fibrosis [ACR pathology]
- Cystic fibrosis [ACR pathology]
- Cystic fibrosis (disorder) [SNOMED CT concept]
- Cystic fibrosis NOS [MedDRA LLT]
- MUCOVISCIDOSIS [WHO-ART Included Term]
- Mucoviscidosis [MedDRA LLT]
- cystic fibrosis [DO Concept]
- cystic fibrosis [Disease (Nov.)]
- cystic fibrosis [Artificial nutrition thesaurus concept]
- cystic fibrosis [MedlinePlus Topic]
- cystic fibrosis [MeSH Descriptor]
- cystic fibrosis [MeSH concept]
- cystic fibrosis [Radlex concept]
- cystic fibrosis [SNOMED Notion]
- cystic fibrosis [TUV Concept]
- cystic fibrosis [TUV Term]
DO Cross reference
- cystic fibrosis [DO Concept]
False automatic mappings
- Cisplatin/Fluorouracil Regimen [NCIt concept]
- Congo [NCIt concept]
- cerebrospinal fluid [MeSH Descriptor]
Genes related to phenotype
- Cystic fibrosis transmembrane conductance regulator [OMIM gene]
- Fc gamma receptor iia [OMIM gene]
- Transforming growth factor, beta-1 [OMIM gene]
HPO term(s)
- Asthma [HPO term]
- Autosomal recessive inheritance [HPO term]
- Biliary cirrhosis [HPO term]
- Bronchiectasis [HPO term]
- Childhood onset [HPO term]
- Chronic lung disease [HPO term]
- Chronic sinusitis [HPO term]
- Cirrhosis [HPO term]
- Clubbing of fingers [HPO term]
- Cor pulmonale [HPO term]
- Decreased forced expiratory flow 25-75% [HPO term]
- Dehydration [HPO term]
- Diarrhea [HPO term]
- Distal intestinal obstruction syndrome [HPO term]
- Elevated sweat chloride [HPO term]
- Exocrine pancreatic insufficiency [HPO term]
- Failure to thrive [HPO term]
- Hemoptysis [HPO term]
- Hepatomegaly [HPO term]
- Hepatosplenomegaly [HPO term]
- Hypercalciuria [HPO term]
- Ileus [HPO term]
- Infantile onset [HPO term]
- Male infertility [HPO term]
- Meconium ileus [HPO term]
- Nasal polyposis [HPO term]
- Pancreatic insufficiency [HPO term]
- Pancreatitis [HPO term]
- Rectal prolapse [HPO term]
- Recurrent bronchopulmonary infections [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent pneumonia [HPO term]
- Reduced forced expiratory volume in one second [HPO term]
- Reduced forced vital capacity [HPO term]
- Steatorrhea [HPO term]
ORDO concept(s)
- Cystic fibrosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CYSTIC FIBROSIS PANCREATIC [WHO-ART Included Term]
- Cystic Fibrosis [NCIt concept]
- Cystic fibrosis [ICD-10 category (who)]
- Cystic fibrosis [MedDRA Preferred Term]
- Cystic fibrosis [LOINC component]
- Cystic fibrosis [ORDO Disease]
- Cystic fibrosis [ICD-9 code]
- Cystic fibrosis [ICD-10 category]
- Cystic fibrosis [ACR pathology]
- Cystic fibrosis [ACR pathology]
- Cystic fibrosis [PASCAL descriptor]
- Cystic fibrosis (disorder) [SNOMED CT concept]
- Cystic fibrosis NOS [MedDRA LLT]
- Cystic fibrosis, unspecified [ICD-10 Sub-category]
- MUCOVISCIDOSIS [WHO-ART Included Term]
- Mucoviscidosis [MedDRA LLT]
- cystic fibrosis [MedlinePlus Topic]
- cystic fibrosis [SNOMED Notion]
- cystic fibrosis [MeSH Descriptor]
- cystic fibrosis [MeSH concept]
- cystic fibrosis [Radlex concept]
- cystic fibrosis [TUV Concept]
- cystic fibrosis [TUV Term]
- cystic fibrosis [DO Concept]
- cystic fibrosis [Disease (Nov.)]
Validated automatic mappings to BTNT
- cystic fibrosis of the pancreas [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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