loading...| Preferred Name |
Cystic Fibrosis |
|
| Synonyms |
Pancreas Fibrocystic Diseases |
|
| 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 |
Pancreas Fibrocystic Diseases Cystic Fibrosis of Pancreas Pulmonary Cystic Fibrosis Cystic Fibrosis, Pancreatic Fibrocystic Disease of Pancreas Pancreas Fibrocystic Disease Mucoviscidosis Fibrosis, Cystic Cystic Fibrosis, Pulmonary Pancreatic 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 |
C0010674 C0392164 C1527396 |
|
| 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 |
D019005 D018181 |
|
| HN |
67; was PANCREATIC CYSTIC FIBROSIS 1963-66 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO |
http://purl.bioontology.org/ontology/MESH/D013546 |
|
| Machine permutation |
67; was PANCREATIC CYSTIC FIBROSIS 1963-66 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C565658 |
|
| 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 |
T010318 T010315 T841233 T010317 T555651 T010316 |
|
| TH |
BIOETHICS (1981) OMIM (2013) NLM (2005) UNK (19XX) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D010182 http://purl.bioontology.org/ontology/MESH/D007232 |