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Items: 1 to 20 of 23

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.

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
3.

Interlabial Escape; No Progression to Anterior Lip

A finding of interlabial escape during swallowing, but no progression to anterior lip. [from NCI]

MedGen UID:
926412
Concept ID:
C4288880
Finding
4.

Furriers lung

MedGen UID:
538594
Concept ID:
C0264476
Disease or Syndrome
5.

Coffee-workers lung

MedGen UID:
538589
Concept ID:
C0264468
Disease or Syndrome
6.

Malt-workers lung

MedGen UID:
510125
Concept ID:
C0155888
Disease or Syndrome
7.

Cheese-washers lung

MedGen UID:
507549
Concept ID:
C0007969
Disease or Syndrome
8.

Heterogeneous

The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992) [from MeSH]

MedGen UID:
67020
Concept ID:
C0242960
Organism Attribute
9.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
10.

Infections

MedGen UID:
678472
Concept ID:
C0851162
Disease or Syndrome
11.

Chronic obstructive pulmonary disease

MedGen UID:
505916
Concept ID:
CN005670
Finding
12.

Chronic

Slow, creeping onset, slow progress and long continuance of disease manifestations. [from HPO]

MedGen UID:
104657
Concept ID:
C0205191
Temporal Concept
13.

Localized

Being confined or restricted to a particular location. [from HPO]

MedGen UID:
98236
Concept ID:
C0392752
Spatial Concept
14.

Chronic obstructive pulmonary disease

Chronic obstructive pulmonary disease (COPD) is a common, complex disorder associated with substantial morbidity and mortality. COPD is defined by irreversible airflow obstruction due to chronic bronchitis, emphysema, and/or small airways disease. Airflow obstruction is typically determined by reductions in quantitative spirometric indices, including forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (FVC) (Silverman et al., 2002; Celedon et al., 2004). [from GTR]

MedGen UID:
9818
Concept ID:
C0024117
Disease or Syndrome
15.

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
16.

Viral disease

A general term for diseases caused by viruses. [from MeSH]

MedGen UID:
53027
Concept ID:
C0042769
Disease or Syndrome
17.

Diseases, Respiratory Tract

Diseases involving the RESPIRATORY SYSTEM. [from MeSH]

MedGen UID:
19750
Concept ID:
C0035242
Disease or Syndrome
18.

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
19.

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
20.

Neonatal disorder

A non-neoplastic or neoplastic disorder which occurs during the neonatal period. [from NCI]

MedGen UID:
9460
Concept ID:
C0021290
Disease or Syndrome
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