loading...| Preferred Name |
Cystic Fibrosis |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2975 |
| 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. |
| code |
C2975 |
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C189762 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118464 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 |
| Contributing_Source |
MedDRA NICHD Cellosaurus |
| 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. |
| FULL_SYN |
Cystic Fibrosis cystic fibrosis |
| label |
Cystic Fibrosis |
| Legacy Concept Name |
Cystic_Fibrosis |
| Maps_To |
Cystic fibrosis |
| Preferred_Name |
Cystic Fibrosis |
| prefixIRI |
Thesaurus:C2975 |
| prefLabel |
Cystic Fibrosis |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0010674 |
| subClassOf |