Preferred Label : Cystic Fibrosis with Meconium Ileus;
NCIt 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.;
Origin ID : C103233;
UMLS CUI : C0546982;
Currated CISMeF NLP mapping
See also inter- (CISMeF)
Semantic type(s)
UMLS correspondences (same concept)
concept_is_in_subset