Cystic Fibrosis

Preferred Label : Cystic Fibrosis;

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.;

Alternative definition : NCI-GLOSS: A common hereditary disease in which exocrine (secretory) glands produce abnormally thick mucus. This mucus can cause problems in digestion, breathing, and body cooling.;

Codes from synonyms : CDR0000044128;

Details

Origin ID

C2975;

UMLS CUI

C0010674;

Currated CISMeF NLP mapping
- CYSTIC FIBROSIS PANCREATIC [WHO-ART Included Term]
- Cystic fibrosis [PASCAL descriptor]
- Cystic fibrosis [ICD-10 category]
- Cystic fibrosis [ACR pathology]
- Cystic fibrosis [ACR pathology]
- 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 [OMIM Phenotype]
- Cystic fibrosis [ORDO Disease]
- 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 [SNOMED Notion]
- cystic fibrosis [TUV Concept]
- cystic fibrosis [TUV Term]
- cystic fibrosis [Radlex concept]
DO Cross reference
- cystic fibrosis [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CYSTIC FIBROSIS PANCREATIC [WHO-ART Included Term]
- Cystic fibrosis [ORDO Disease]
- Cystic fibrosis [MedDRA Preferred Term]
- Cystic fibrosis [OMIM Phenotype]
- Cystic fibrosis [ICD-9 code]
- Cystic fibrosis [ICD-10 category]
- Cystic fibrosis [ACR pathology]
- Cystic fibrosis [ACR pathology]
- Cystic fibrosis [PASCAL descriptor]
- Cystic fibrosis [ICD-10 category (who)]
- Cystic fibrosis [LOINC component]
- 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 [Radlex concept]
- cystic fibrosis [TUV Concept]
- cystic fibrosis [TUV Term]
- cystic fibrosis [DO Concept]
- cystic fibrosis [Disease (Nov.)]
- cystic fibrosis [MeSH concept]
- cystic fibrosis [MedlinePlus Topic]
- cystic fibrosis [SNOMED Notion]
- cystic fibrosis [MeSH Descriptor]
Validated automatic mappings to BTNT
- cystic fibrosis of the pancreas [Disease (Nov.)]
associated_with_malfunction_of_gene_product
- Calcium-Activated Chloride Channel Regulator 2 [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Adverse Events Terminology [NCIt concept]
- Pediatric Adverse Events Terminology Mapped to MedDRA [NCIt concept]
disease_has_associated_gene
- CLCA2 Gene [NCIt concept]
- CLCA2 wt Allele [NCIt concept]
- DEFB1 Gene [NCIt concept]
- DEFB1 wt Allele [NCIt concept]
- S100A8 Gene [NCIt concept]
- S100A8 wt Allele [NCIt concept]
- S100A9 Gene [NCIt concept]
- S100A9 wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

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