About: Cystic Fibrosis     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Cystic Fibrosis
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Cystic Fibrosis
UMLS_CUI
  • C0010674
Contributing_Source
  • NICHD
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.NCI-GLOSS
Legacy_Concept_Name
  • Cystic_Fibrosis
FULL_SYN
  • Cystic FibrosisPTNCI
  • Cystic FibrosisPTNICHD
  • cystic fibrosisPTNCI-GLOSSCDR0000044128
DEFINITION
  • A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. 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.NCI
code
  • C2975
is rdfs:subClassOf of
is someValuesFrom of
is Has_NICHD_Parent of
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