About: Cystic Fibrosis with Meconium Ileus     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Cystic Fibrosis with Meconium Ileus
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Cystic Fibrosis with Meconium Ileus
UMLS_CUI
  • C0546982
Contributing_Source
  • NICHD
FULL_SYN
  • Cystic Fibrosis with Meconium IleusPTNCI
  • Cystic Fibrosis with Meconium IleusPTNICHD
DEFINITION
  • A congenital metabolic detected in the neonatal period that is characterized by the presence of a meconium ileus. The disease affects the exocrine glands andis 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
  • C103233
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