loading...| Preferred Name |
cystic fibrosis |
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| Synonyms |
cystic fibrosis with other manifestations Cystic fibrosis without mention of meconium ileus CF Mucoviscidosis Fibrocystic disease cystic fibrosis with other manifestations (disorder) cystic fibrosis with pulmonary manifestations (disorder) CYSTIC FIBROS W/O ILEUS Meconium obstruction of intestine in mucoviscidosis cystic fibrosis with combined manifestations CF - Cystic fibrosis cystic fibrosis with meconium ileus (disorder) Cystic fibrosis NOS (disorder) Meconium ileus in cystic fibrosis (disorder) cystic fibrosis cystic fibrosis with pulmonary manifestations Cystic fibrosis (disorder) Cystic fibrosis NOS cystic fibrosis with meconium ileus cystic fibrosis with gastrointestinal manifestations |
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| Definitions |
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. 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. -- 2003 |
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| ID |
http://www.ebi.ac.uk/efo/EFO_0000390 |
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| comment |
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. 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. -- 2003 |
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| alternative term |
cystic fibrosis with other manifestations Cystic fibrosis without mention of meconium ileus CF Mucoviscidosis Fibrocystic disease cystic fibrosis with other manifestations (disorder) cystic fibrosis with pulmonary manifestations (disorder) CYSTIC FIBROS W/O ILEUS Meconium obstruction of intestine in mucoviscidosis cystic fibrosis with combined manifestations CF - Cystic fibrosis cystic fibrosis with meconium ileus (disorder) Cystic fibrosis NOS (disorder) Meconium ileus in cystic fibrosis (disorder) cystic fibrosis cystic fibrosis with pulmonary manifestations Cystic fibrosis (disorder) Cystic fibrosis NOS cystic fibrosis with meconium ileus cystic fibrosis with gastrointestinal manifestations |
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| definition source |
GeneRIF:12948935 GeneRIF:15246975 GeneRIF:15274124 GeneRIF:12660625 GeneRIF:15611333 GeneRIF:12820707 GeneRIF:15336594 GeneRIF:11667971 GeneRIF:15533353 GeneRIF:12142724 GeneRIF:16137181 GeneRIF:15385508 GeneRIF:16207846 GeneRIF:16267280 GeneRIF:15025720 GeneRIF:15684701 GeneRIF:12732620 GeneRIF:15781764 GeneRIF:15638824 GeneRIF:15537723 GeneRIF:14699484 GeneRIF:12579467 GeneRIF:15579374 GeneRIF:11956211 NCIt:C2975 GeneRIF:15463895 GeneRIF:12070134 GeneRIF:15025858 GeneRIF:12919146 GeneRIF:12000722 GeneRIF:15024729 GeneRIF:15070876 GeneRIF:11877474 GeneRIF:15489228 GeneRIF:12847263 GeneRIF:12142723 GeneRIF:12151438 ICD9:277.00 ICD9:277.0 GeneRIF:11845300 GeneRIF:11984593 GeneRIF:15184199 GeneRIF:15367919 GeneRIF:15107292 GeneRIF:11809765 GeneRIF:15490240 GeneRIF:15964894 GeneRIF:15463896 GeneRIF:14695120 GeneRIF:15964250 GeneRIF:15738290 GeneRIF:16281647 GeneRIF:15463893 GeneRIF:11988083 GeneRIF:12370389 GeneRIF:12026214 GeneRIF:14685937 GeneRIF:12547728 GeneRIF:16236890 GeneRIF:12692180 SNOMEDCT:190911006 GeneRIF:15007059 GeneRIF:11872746 DOID:1485 GeneRIF:11823525 SNOMEDCT:190905008 GeneRIF:12297838 GeneRIF:12220181 |
|
| label |
cystic fibrosis |
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| prefixIRI |
efo:EFO_0000390 |
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| prefLabel |
cystic fibrosis |
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| see also | ||
| term editor |
James Malone |
|
| subClassOf |
http://purl.obolibrary.org/obo/DOID_0050177 |
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