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Cystic Fibrosis

^ http://purl.obolibrary.org/obo/NCIT_C2975


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 ]

Synonyms: Cystic Fibrosis, cystic fibrosis

Term info

Subsets

NCIT_C90259, NCIT_C99147, NCIT_C118464

ALT 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., 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.

Contributing Source

MedDRA, NICHD

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C34816

Legacy Concept Name

Cystic_Fibrosis

Maps To

Cystic fibrosis

NICHD Hierarchy Term

Cystic Fibrosis

Preferred Name

Cystic Fibrosis

Semantic Type

Disease or Syndrome

UMLS CUI

C0010674

code

C2975