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January 16, 2025
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Id | http://purl.bioontology.org/ontology/MESH/D003550
http://purl.bioontology.org/ontology/MESH/D003550
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Preferred Name | Cystic Fibrosis |
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.
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Synonyms |
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
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
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. |
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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
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prefLabel | Cystic Fibrosis
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TH |
BIOETHICS (1981)
OMIM (2013)
NLM (2005)
UNK (19XX)
GHR (2014)
ORD (2010)
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notation | D003550
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DX | 19670101
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Machine permutation | 67; was PANCREATIC CYSTIC FIBROSIS 1963-66
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MN |
C16.614.213
C06.689.202
C16.320.190
C08.381.187
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FX |
D019005
D018181
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MMR | 20130708
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Mapped from | |
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
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HN | 67; was PANCREATIC CYSTIC FIBROSIS 1963-66
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subClassOf | |
Semantic type UMLS property | |
DC | 1
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MDA | 19990101
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Inverse of RO | |
type | |
tui | T047
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cui |
C0010674
C0392164
C1527396
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AN | a specific disease entity: do not use for fibrocystic states of various organs
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Inverse of AQ |
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OL | use CYSTIC FIBROSIS to search PANCREATIC CYSTIC FIBROSIS 1966
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TERMUI |
T010318
T010315
T841233
T010317
T555651
T010316
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