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