Diagnosis of adpkd
Item
patients with a diagnosis of adpkd
boolean
C0085413 (UMLS CUI [1])
Informed consent
Item
written informed consent
boolean
C0021430 (UMLS CUI [1])
Nationally health insured
Item
affiliated or benefiting from a national insurance
boolean
C0027452 (UMLS CUI [1])
Relatives with a diagnosis of adpkd
Item
relatives with a diagnosis of adpkd (adpkd relatives)
boolean
C0085413 (UMLS CUI [1,1])
C0080103 (UMLS CUI [1,2])
Relatives over age 30 for whom the diagnosis of adpkd has been discarded with renal ultrasonography performed after age 30
Item
and relatives over age 30 for whom the diagnosis of adpkd has been discarded (non adpkd relatives) with renal ultrasonography performed after age 30.
boolean
C0080103 (UMLS CUI [1,1])
C0001779 (UMLS CUI [1,2])
C0080103 (UMLS CUI [2,1])
C1277606 (UMLS CUI [2,2])
C0085413 (UMLS CUI [2,3])
C0203408 (UMLS CUI [2,4])
Informed consent
Item
written informed consent
boolean
C0021430 (UMLS CUI [1])
Nationally health insured
Item
affiliated or benefiting from a national insurance
boolean
C0027452 (UMLS CUI [1])
Inability to provide written informed consent
Item
subjects unable to provide written informed consent
boolean
C0021430 (UMLS CUI [1,1])
C1299582 (UMLS CUI [1,2])
Finding of pathogenic mutation in pkd1 and pkd2
Item
previous molecular analysis of pkd1 and pkd2 genes with identification of the pathogenic mutation
boolean
C1418599 (UMLS CUI [1,1])
C0596611 (UMLS CUI [1,2])
C0596611 (UMLS CUI [2,1])
C1418600 (UMLS CUI [2,2])
Inability to provide written informed consent
Item
subjects unable to provide written informed consent
boolean
C0021430 (UMLS CUI [1,1])
C1299582 (UMLS CUI [1,2])
Age under 30 for the
Item
age under 30 for the "non-affected" relatives
boolean
C0001779 (UMLS CUI [1,1])
C0080103 (UMLS CUI [1,2])
C0080103 (UMLS CUI [2,1])
C0085413 (UMLS CUI [2,2])
C1277606 (UMLS CUI [2,3])