Elig.phs000636.v1.p1.1
Item
A highly structured diagnostic algorithm was used to phenotype FIA study subjects. All medical records and imaging studies, as well as a screening interview about aneurysm history, were obtained from individuals with a reported history of IA, SAH, or intra cerebral hemorrhage. These data were reviewed by a Verification Committee consisting of study neurologists at the University of Cincinnati and the Mayo Clinic. Two neurologists independently reviewed the records and decided if the subject met all the inclusion and exclusion criteria. In cases of disagreement between the two initial reviewers, a third neurologist was used to resolve the case diagnosis.
boolean
C0348026 (UMLS CUI [1,1])
C0002045 (UMLS CUI [1,2])
C0031437 (UMLS CUI [1,3])
C0080105 (UMLS CUI [1,4])
C0080105 (UMLS CUI [2,1])
C0262926 (UMLS CUI [2,2])
C0007766 (UMLS CUI [2,3])
C0038525 (UMLS CUI [2,4])
C2937358 (UMLS CUI [2,5])
C0025102 (UMLS CUI [2,6])
C1881134 (UMLS CUI [2,7])
C0021822 (UMLS CUI [2,8])
C0699752 (UMLS CUI [3,1])
C1511726 (UMLS CUI [3,2])
C1711411 (UMLS CUI [3,3])
C2699414 (UMLS CUI [3,4])
C0237426 (UMLS CUI [3,5])
C0205448 (UMLS CUI [4,1])
C0237426 (UMLS CUI [4,2])
C0681367 (UMLS CUI [4,3])
C0699752 (UMLS CUI [4,4])
C0025102 (UMLS CUI [4,5])
C4329786 (UMLS CUI [4,6])
C0868928 (UMLS CUI [5,1])
C0680238 (UMLS CUI [5,2])
C0205437 (UMLS CUI [5,3])
C0237426 (UMLS CUI [5,4])
Elig.phs000636.v1.p1.2
Item
First degree relatives of an individual with an IA (parent, sibling or child) who also had risk factors increasing the likelihood that they might have an unruptured IA (i.e. age of 30 years or older, history of smoking or hypertension) were offered a free study MRA to detect an unruptured IA. All magnetic resonance angiography (MRA) and computed tomography angiography (CTA) scans were reviewed by two neuroradiologists at the Mayo Clinic to determine presence or absence as well as size and location of an IA. For any differences, a consensus meeting was held by the two neuroradiologists. Rigorous phenotype classification was performed for each subject.
boolean
C1517194 (UMLS CUI [1,1])
C0522476 (UMLS CUI [1,2])
C0007766 (UMLS CUI [1,3])
C0035648 (UMLS CUI [1,4])
C1444648 (UMLS CUI [1,5])
C0243032 (UMLS CUI [1,6])
C1511790 (UMLS CUI [1,7])
C0155730 (UMLS CUI [1,8])
C0699752 (UMLS CUI [2,1])
C0243032 (UMLS CUI [2,2])
C1536105 (UMLS CUI [2,3])
C2985415 (UMLS CUI [2,4])
C0150312 (UMLS CUI [2,5])
C0332197 (UMLS CUI [2,6])
C0007766 (UMLS CUI [2,7])
C0031437 (UMLS CUI [3,1])
C0008902 (UMLS CUI [3,2])
Elig.phs000636.v1.p1.3
Item
*Definite*: Medical records document aneurysm on angiogram, operative report, autopsy, or a non-invasive imaging report (MRA, CTA) demonstrates an IA measuring greater than 7mm.
boolean
C0439544 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C0025102 (UMLS CUI [1,3])
C0920316 (UMLS CUI [1,4])
C0002940 (UMLS CUI [1,5])
C0002978 (UMLS CUI [1,6])
C1269801 (UMLS CUI [1,7])
C0004398 (UMLS CUI [1,8])
C0243032 (UMLS CUI [1,9])
C1536105 (UMLS CUI [1,10])
C0007766 (UMLS CUI [1,11])
C0439093 (UMLS CUI [1,12])
C0205453 (UMLS CUI [1,13])
C0439200 (UMLS CUI [1,14])
Elig.phs000636.v1.p1.4
Item
*Probable*: Death certificate mentions probable intracranial aneurysm without supporting documentation or autopsy. Death certificate mentions subarachnoid hemorrhage without mention of aneurysm *and* a phone screen is consistent with ruptured IA (severe headache or altered level of consciousness) rapidly leading to death. An MRA documents an IA that is less than 7 mm but greater than 3 mm.
boolean
C0332148 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C0011066 (UMLS CUI [1,3])
C0007766 (UMLS CUI [1,4])
C1298908 (UMLS CUI [1,5])
C0004398 (UMLS CUI [1,6])
C0038525 (UMLS CUI [1,7])
C1298908 (UMLS CUI [1,8])
C0002940 (UMLS CUI [1,9])
C1457887 (UMLS CUI [1,10])
C0332290 (UMLS CUI [1,11])
C3266645 (UMLS CUI [1,12])
C2957106 (UMLS CUI [1,13])
C0751054 (UMLS CUI [1,14])
C0243032 (UMLS CUI [2,1])
C0007766 (UMLS CUI [2,2])
C0439092 (UMLS CUI [2,3])
C0205453 (UMLS CUI [2,4])
C0439200 (UMLS CUI [2,5])
C0439093 (UMLS CUI [2,6])
C0205449 (UMLS CUI [2,7])
C0439200 (UMLS CUI [2,8])
Elig.phs000636.v1.p1.5
Item
*Possible*: Non-invasive imaging report documents an aneurysm measuring between 2 and 3 mm. Subarachnoid hemorrhage was noted on death certificate, without any supporting documentation, autopsy or recording of headache or altered LOC on phone screen. Death certificate lists 'aneurysm' without specifying cerebral location or accompanying SAH.
boolean
C0205303 (UMLS CUI [1,1])
C0011923 (UMLS CUI [1,2])
C0002940 (UMLS CUI [1,3])
C0439093 (UMLS CUI [1,4])
C0205448 (UMLS CUI [1,5])
C0439200 (UMLS CUI [1,6])
C0439092 (UMLS CUI [1,7])
C0205449 (UMLS CUI [1,8])
C0439200 (UMLS CUI [1,9])
C0011066 (UMLS CUI [2,1])
C0038525 (UMLS CUI [2,2])
C1298908 (UMLS CUI [2,3])
C0920316 (UMLS CUI [2,4])
C1298908 (UMLS CUI [2,5])
C0004398 (UMLS CUI [2,6])
C1298908 (UMLS CUI [2,7])
C1457887 (UMLS CUI [2,8])
C0011066 (UMLS CUI [3,1])
C0007766 (UMLS CUI [3,2])
C1298908 (UMLS CUI [3,3])
C1521902 (UMLS CUI [3,4])
C0450429 (UMLS CUI [3,5])
C1298908 (UMLS CUI [3,6])
C0038525 (UMLS CUI [3,7])
Elig.phs000636.v1.p1.6
Item
*Not an Affected Case: There is no supporting information for a possible IA*
boolean
C0522477 (UMLS CUI [1,1])
C1298908 (UMLS CUI [1,2])
C1533716 (UMLS CUI [1,3])
C0007766 (UMLS CUI [1,4])
Elig.phs000636.v1.p1.7
Item
For the whole exome sequencing project, all families were reviewed and a set of 7 densely affected IA families were selected for whole exome sequencing. The families chosen had the largest number of definite IA cases. Each family had at least 4 definite IA cases with whole blood DNA available. In addition, in some families 1-2 unaffected individuals were also selected for WES. These unaffected individuals were older (past likely age of IA risk within the family) and had a previous MRA that did not provide any evidence of an unruptured IA. All families included in the WES were of Caucasian ancestry.
boolean
C3669174 (UMLS CUI [1,1])
C3640077 (UMLS CUI [1,2])
C1709701 (UMLS CUI [1,3])
C0015576 (UMLS CUI [1,4])
C0439064 (UMLS CUI [1,5])
C0522476 (UMLS CUI [1,6])
C0007766 (UMLS CUI [1,7])
C0015576 (UMLS CUI [2,1])
C0439064 (UMLS CUI [2,2])
C0439544 (UMLS CUI [2,3])
C1706256 (UMLS CUI [2,4])
C0007766 (UMLS CUI [2,5])
C0015576 (UMLS CUI [3,1])
C1524031 (UMLS CUI [3,2])
C0205450 (UMLS CUI [3,3])
C0439544 (UMLS CUI [3,4])
C1706256 (UMLS CUI [3,5])
C0470187 (UMLS CUI [3,6])
C0012854 (UMLS CUI [3,7])
C3640077 (UMLS CUI [4,1])
C0015576 (UMLS CUI [4,2])
C0522477 (UMLS CUI [4,3])
C0687676 (UMLS CUI [4,4])
C0001779 (UMLS CUI [4,5])
C0011900 (UMLS CUI [4,6])
C0007766 (UMLS CUI [4,7])
C0205156 (UMLS CUI [4,8])
C0243032 (UMLS CUI [4,9])
C0332125 (UMLS CUI [4,10])
C0007766 (UMLS CUI [4,11])
C0015576 (UMLS CUI [5,1])
C3841890 (UMLS CUI [5,2])
C0043157 (UMLS CUI [5,3])
Elig.phs000636.v1.p1.8
Item
Individuals were excluded from this study if the IA was of a fusiform shape and unruptured; if the IA was part of an arteriovenous malformation; or if there was a family history of polycystic kidney disease, Marfan's Syndrome, Ehlers-Danlos Syndrome, fibromuscular dysplasia, or Moya-Moya syndrome.
boolean
C0680251 (UMLS CUI [1,1])
C0332493 (UMLS CUI [1,2])
C0155730 (UMLS CUI [1,3])
C0680251 (UMLS CUI [2,1])
C0007766 (UMLS CUI [2,2])
C0007772 (UMLS CUI [2,3])
C0680251 (UMLS CUI [3,1])
C0241889 (UMLS CUI [3,2])
C0022680 (UMLS CUI [3,3])
C0024796 (UMLS CUI [3,4])
C0013720 (UMLS CUI [3,5])
C0016052 (UMLS CUI [3,6])
C0026654 (UMLS CUI [3,7])