Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 32

1.

Cystic fibrosis

Cystic fibrosis (CF) is a multisystem disease affecting epithelia of the respiratory tract, exocrine pancreas, intestine, hepatobiliary system, and exocrine sweat glands. Morbidities include progressive obstructive lung disease with bronchiectasis, frequent hospitalizations for pulmonary disease, pancreatic insufficiency and malnutrition, recurrent sinusitis and bronchitis, and male infertility. Pulmonary disease is the major cause of morbidity and mortality in CF. Meconium ileus occurs at birth in 15%-20% of newborns with CF. More than 95% of males with CF are infertile. Congenital absence of the vas deferens (CAVD) is generally identified during evaluation of infertility or as an incidental finding at the time of a surgical procedure. Hypoplasia or aplasia of the vas deferens and seminal vesicles may occur either bilaterally or unilaterally. Testicular development and function and spermatogenesis are usually normal. [from GTR]

MedGen UID:
41393
Concept ID:
C0010674
Disease or Syndrome
2.

Cancer

An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour). [from HPO]

MedGen UID:
14297
Concept ID:
C0006826
Neoplastic Process
3.

Experimental Tumor

Laboratory tumor models used to study tumor development and treatment. [from NCI]

MedGen UID:
10216
Concept ID:
C0027659
Experimental Model of Disease; Neoplastic Process
4.

Disorder of lung

A non-neoplastic or neoplastic disorder affecting the lung. Representative examples of non-neoplastic disorders include chronic obstructive pulmonary disease and pneumonia. Representative examples of neoplastic disorders include benign processes (e.g., respiratory papilloma) and malignant processes (e.g., lung carcinoma and metastatic cancer to the lung). [from NCI]

MedGen UID:
7399
Concept ID:
C0024115
Disease or Syndrome
5.

Fibrosis

Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury. [from MeSH]

MedGen UID:
5179
Concept ID:
C0016059
Pathologic Function
6.

Alpha1-proteinase inhibitor

Alpha-1-antitrypsin (418 aa, ~47 kDa) is encoded by the human SERPINA1 gene. This protein plays a role in regulation of proteolysis. [from NCI]

MedGen UID:
215
Concept ID:
C0002191
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
7.

Furriers lung

MedGen UID:
538594
Concept ID:
C0264476
Disease or Syndrome
8.

Coffee-workers lung

MedGen UID:
538589
Concept ID:
C0264468
Disease or Syndrome
9.

Cheese-washers lung

MedGen UID:
507549
Concept ID:
C0007969
Disease or Syndrome
10.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
11.

Suffering

State of severe distress associated with events that threaten the intactness of the person, can be physical, mental, or emotional. [from SNOMEDCT_US]

MedGen UID:
151916
Concept ID:
C0683278
Mental or Behavioral Dysfunction
12.

Frequent

Coming at short intervals or in great quantities. [from NCI]

MedGen UID:
87144
Concept ID:
C0332183
Temporal Concept
13.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
14.

Alpha-1-antitrypsin deficiency

Alpha-1 antitrypsin deficiency (AATD) is characterized by an increased risk for: chronic obstructive pulmonary disease (i.e., emphysema, persistent airflow obstruction, and/or chronic bronchitis) in adults; liver disease in children and adults; panniculitis; and c-ANCA positive vasculitis. Emphysema, sometimes with associated bronchiectasis, is the most common manifestation of AATD. Smoking is the major factor influencing the course of chronic obstructive pulmonary disease (COPD). The onset of respiratory disease in smokers with AATD is characteristically between ages 40 and 50 years; in non-smokers, the onset can be delayed to the sixth decade, and some non-smokers never develop COPD. Non-smokers may have a normal life span. Although reported, emphysema in children with AATD is extremely rare. AATD-associated liver disease, which is present in only a small portion of affected children, manifests as obstructive jaundice and increased serum aminotransferase levels in the early days and months of life. The incidence of liver disease increases with age. Liver disease in adults (manifesting as cirrhosis and fibrosis) may occur in the absence of a history of neonatal or childhood liver disease. The risk for hepatocellular carcinoma (HCC) is increased in individuals with AATD. [from GTR]

MedGen UID:
67461
Concept ID:
C0221757
Disease or Syndrome
15.

Subcutaneous emphysema

Presence of air or gas in the subcutaneous tissues of the body. [from MeSH]

MedGen UID:
21365
Concept ID:
C0038536
Pathologic Function
16.

Diseases, Respiratory Tract

Diseases involving the RESPIRATORY SYSTEM. [from MeSH]

MedGen UID:
19750
Concept ID:
C0035242
Disease or Syndrome
17.

Abnormality of the pancreas

A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms. [from NCI]

MedGen UID:
14583
Concept ID:
C0030286
Disease or Syndrome
18.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. [from MeSH]

MedGen UID:
14319
Concept ID:
C0027612
Congenital Abnormality; Disease or Syndrome
19.

Thoracic Neoplasm

A benign or malignant, primary or metastatic neoplasm involving the tissues of the thorax. [from NCI]

MedGen UID:
11793
Concept ID:
C0039981
Neoplastic Process
20.

Neoplasm of the respiratory system

A benign or malignant, primary or metastatic neoplasm involving the respiratory tract. [from NCI]

MedGen UID:
11200
Concept ID:
C0035244
Neoplastic Process
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center