loading...| Preferred Name |
Cystic Fibrosis |
| Synonyms |
Fibrocystic Disease of Pancreas |
| Definitions |
An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION. |
| ID |
http://purl.bioontology.org/ontology/MESH/D003550 |
| altLabel |
Fibrocystic Disease of Pancreas Pancreatic Cystic Fibrosis Pancreas Fibrocystic Disease Cystic Fibrosis, Pulmonary Pancreas Fibrocystic Diseases Cystic Fibrosis of Pancreas Mucoviscidosis Cystic Fibrosis, Pancreatic Fibrosis, Cystic Pulmonary Cystic Fibrosis |
| AN |
a specific disease entity: do not use for fibrocystic states of various organs |
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
| cui |
C1527396 C0392164 C0010674 |
| DC |
1 |
| definition |
An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION. |
| DX |
19670101 |
| FX |
D018181 D019005 |
| HN |
67; was PANCREATIC CYSTIC FIBROSIS 1963-66 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of RO |
http://purl.bioontology.org/ontology/MESH/D018181 |
| Machine permutation |
67; was PANCREATIC CYSTIC FIBROSIS 1963-66 |
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C537071 |
| MDA |
19990101 |
| MMR |
20130708 |
| MN |
C16.614.213 C06.689.202 C16.320.190 C08.381.187 |
| notation |
D003550 |
| OL |
use CYSTIC FIBROSIS to search PANCREATIC CYSTIC FIBROSIS 1966 |
| prefLabel |
Cystic Fibrosis |
| TERMUI |
T010315 T555651 T010317 T010318 T010316 T841233 |
| TH |
BIOETHICS (1981) UNK (19XX) ORD (2010) NLM (2005) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D030342 http://purl.bioontology.org/ontology/MESH/D010182 |