Elig.phs000827.v3.p1.1
Item
Study participants represent different clinical phenotypes in which delineation of the molecular etiology might be amenable to genome-scale sequencing. The major areas include:
boolean
C1302261 (UMLS CUI [1,1])
C0031437 (UMLS CUI [1,2])
Elig.phs000827.v3.p1.2
Item
Hereditary cancer predisposition
boolean
C0314657 (UMLS CUI [1,1])
C0006826 (UMLS CUI [1,2])
Elig.phs000827.v3.p1.3
Item
Neurological disorders (e.g. neuropathy, myopathy, movement disorders, epilepsy)
boolean
C0027765 (UMLS CUI [1,1])
Elig.phs000827.v3.p1.4
Item
Intellectual disability and dysmorphology/birth defects
boolean
C3714756 (UMLS CUI [1,1])
C0000768 (UMLS CUI [2,1])
Elig.phs000827.v3.p1.5
Item
Cardiovascular conditions (e.g. Long QT syndrome, cardiomyopathy, thoracic aortic aneurysm and dissection)
boolean
C0007222 (UMLS CUI [1,1])
Elig.phs000827.v3.p1.6
Item
Retinal disorders
boolean
C0035309 (UMLS CUI [1,1])
Elig.phs000827.v3.p1.7
Item
Thrombotic disorders
boolean
C4049573 (UMLS CUI [1,1])
Elig.phs000827.v3.p1.8
Item
Eligible patients should have certain hallmarks - including but not limited to, age of onset, severity, family history, or constellation of phenotypic features - suggestive of a monogenic etiology for their presenting signs or symptoms. Excluded: Those with low suspicion of a hereditable disorder.
boolean
C1512693 (UMLS CUI [1,1])
C0332299 (UMLS CUI [1,2])
C0439660 (UMLS CUI [1,3])
C1314792 (UMLS CUI [1,4])