Inclusion: Familial Interstitial Pneumonia (FIP) families qualify for this study after the evaluation described below identifies the presence of two or more cases of definite or probable idiopathic interstitial pneumonia (IIP) in individuals genetically related within three degrees. In at least one of these cases, the IIP diagnosis must be definite/probable idiopathic pulmonary fibrosis/usual interstitial pneumonia (IPF/UIP); requiring one case of IPF/UIP anchors the FIP families with the most common and severe form of IIP and creates consistency between the families.
Item
Inclusion: Familial Interstitial Pneumonia (FIP) families qualify for this study after the evaluation described below identifies the presence of two or more cases of definite or probable idiopathic interstitial pneumonia (IIP) in individuals genetically related within three degrees. In at least one of these cases, the IIP diagnosis must be definite/probable idiopathic pulmonary fibrosis/usual interstitial pneumonia (IPF/UIP); requiring one case of IPF/UIP anchors the FIP families with the most common and severe form of IIP and creates consistency between the families.
boolean
C1512693 (UMLS CUI [1,1])
C0241888 (UMLS CUI [1,2])
C0206061 (UMLS CUI [1,3])
C0220825 (UMLS CUI [1,4])
C5446819 (UMLS CUI [1,5])
C3844700 (UMLS CUI [1,6])
C2350236 (UMLS CUI [1,7])
C0445223 (UMLS CUI [1,8])
C1800706 (UMLS CUI [1,9])
C4721509 (UMLS CUI [1,10])
Exclusion: Because this is a study of genetic etiological factors in pulmonary fibrosis, we exclude subjects with: 1) medical conditions associated with the development of interstitial lung disease (ILD), including collagen vascular diseases; 2) clinically significant medication, drug, occupational, environmental, or avocational exposures known to be associated with the development of ILD; 3) known genetic diseases associated with ILD, such as Hermansky-Pudlak Syndrome, neurofibromatosis, tuberous sclerosis, Neimann-Pick disease, Gaucher's disease, and familial hypocalciuric hypercalcemia; and 4) cases of pulmonary fibrosis occurring in those less than 20 years of age. Although early onset cases are often considered to be valuable in genetic studies, it is very likely that cases of ILD occurring before age 20 do not represent pulmonary fibrosis and are likely to be etiologically different than cases of ILD in adults.
Item
Exclusion: Because this is a study of genetic etiological factors in pulmonary fibrosis, we exclude subjects with: 1) medical conditions associated with the development of interstitial lung disease (ILD), including collagen vascular diseases; 2) clinically significant medication, drug, occupational, environmental, or avocational exposures known to be associated with the development of ILD; 3) known genetic diseases associated with ILD, such as Hermansky-Pudlak Syndrome, neurofibromatosis, tuberous sclerosis, Neimann-Pick disease, Gaucher's disease, and familial hypocalciuric hypercalcemia; and 4) cases of pulmonary fibrosis occurring in those less than 20 years of age. Although early onset cases are often considered to be valuable in genetic studies, it is very likely that cases of ILD occurring before age 20 do not represent pulmonary fibrosis and are likely to be etiologically different than cases of ILD in adults.
boolean
C0680251 (UMLS CUI [1,1])
C0314603 (UMLS CUI [1,2])
C1254373 (UMLS CUI [1,3])
C0034069 (UMLS CUI [1,4])
C4745084 (UMLS CUI [1,5])
C1527148 (UMLS CUI [1,6])
C0206062 (UMLS CUI [1,7])
C0262428 (UMLS CUI [1,8])
C0013227 (UMLS CUI [1,9])
C3544061 (UMLS CUI [1,10])
C0028798 (UMLS CUI [1,11])
C0019247 (UMLS CUI [1,12])
C0079504 (UMLS CUI [1,13])
C0162678 (UMLS CUI [1,14])
C0041341 (UMLS CUI [1,15])
C0028064 (UMLS CUI [1,16])
C0017205 (UMLS CUI [1,17])
C0342637 (UMLS CUI [1,18])
C0001779 (UMLS CUI [1,19])