ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Syndrome: Arterial tortuosity syndrome
Gene/Gene Panel: SLC2A10
Context: Adult
Date
Status
Outcomes-Interventions
Notes
2020/05/12
Released
1.3.2
Adverse effects of sports and other risky physical activities (GroupA)
Avoid contact sports and other risky physical activities (GroupA) 6DD
Aortic Dilation Progression (GroupA)
Pharmacotherapy, including beta-blockers and angiotensin II receptor blockers (GroupA) 10NB
Clinically significant aortic aneurysms (GroupA)
Surveillance (GroupA) 10NB
Pregnancy-associated complications (GroupA)
High risk pregnancy management (GroupA) 7DN
Visual deterioration (GroupA)
Periodic follow-up in ophthalmology clinic (GroupA) 6ND
Corrected MONDO ID to a different format
2020/05/12
Released (Under revision)
1.3.1
Adverse effects of sports and other risky physical activities (GroupA)
Avoid contact sports and other risky physical activities (GroupA) 6DD
Aortic Dilation Progression (GroupA)
Pharmacotherapy, including beta-blockers and angiotensin II receptor blockers (GroupA) 10NB
Clinically significant aortic aneurysms (GroupA)
Surveillance (GroupA) 10NB
Pregnancy-associated complications (GroupA)
High risk pregnancy management (GroupA) 7DN
Visual deterioration (GroupA)
Periodic follow-up in ophthalmology clinic (GroupA) 6ND
2020/04/22
Released
1.3.1
Adverse effects of sports and other risky physical activities (GroupA)
Avoid contact sports and other risky physical activities (GroupA) 6DD
Aortic Dilation Progression (GroupA)
Pharmacotherapy, including beta-blockers and angiotensin II receptor blockers (GroupA) 10NB
Clinically significant aortic aneurysms (GroupA)
Surveillance (GroupA) 10NB
Pregnancy-associated complications (GroupA)
High risk pregnancy management (GroupA) 7DN
Visual deterioration (GroupA)
Periodic follow-up in ophthalmology clinic (GroupA) 6ND
2020/04/22
Released (Under revision)
1.3.0
Adverse effects of sports and other risky physical activities (GroupA)
Avoid contact sports and other risky physical activities (GroupA) 6DD
Aortic Dilation Progression (GroupA)
Pharmacotherapy, including beta-blockers and angiotensin II receptor blockers (GroupA) 10NB
Clinically significant aortic aneurysms (GroupA)
Surveillance (GroupA) 10NB
Pregnancy-associated complications (GroupA)
High risk pregnancy management (GroupA) 7DN
Visual deterioration (GroupA)
Periodic follow-up in ophthalmology clinic (GroupA) 6ND
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/10/03
Released
1.3.0
Adverse effects of sports and other risky physical activities (GroupA)
Avoid contact sports and other risky physical activities (GroupA) 6DD
Aortic Dilation Progression (GroupA)
Pharmacotherapy, including beta-blockers and angiotensin II receptor blockers (GroupA) 10NB
Clinically significant aortic aneurysms (GroupA)
Surveillance (GroupA) 10NB
Pregnancy-associated complications (GroupA)
High risk pregnancy management (GroupA) 7DN
Visual deterioration (GroupA)
Periodic follow-up in ophthalmology clinic (GroupA) 6ND
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/04/04
Released
1.2.0
Adverse effects of sports and other risky physical activities
Avoid contact sports and other risky physical activities 6DD
Aortic Dilation Progression
Pharmacotherapy, including beta-blockers and angiotensin II receptor blockers 10NB
Clinically significant aortic aneurysms
Surveillance 10NB
Pregnancy-associated complications
High risk pregnancy management 7DN
Visual deterioration
Periodic follow-up in ophthalmology clinic 6ND
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
1.1.1
Adverse effects of sports and other risky physical activities
Avoid contact sports and other risky physical activities 6DD
Aortic Dilation Progression
Pharmacotherapy, including beta-blockers and angiotensin II receptor blockers 10NB
Clinically significant aortic aneurysms
Surveillance 10NB
Pregnancy-associated complications
High risk pregnancy management 7DN
Visual deterioration
Periodic follow-up in ophthalmology clinic 6ND
Internal system migration related to score text replacement from E to N
2018/02/19
Released
1.1.0
Adverse effects of sports and other risky physical activities
Avoid contact sports and other risky physical activities 6DD
Aortic Dilation Progression
Pharmacotherapy, including beta-blockers and angiotensin II receptor blockers 10EB
Clinically significant aortic aneurysms
Surveillance 10EB
Pregnancy-associated complications
High risk pregnancy management 7DE
Visual deterioration
Periodic follow-up in ophthalmology clinic 6ED
2018/02/19
Released (Under revision)
1.0.0
Adverse effects of sports and other risky physical activities
Avoid contact sports and other risky physical activities 6DD
Aortic Dilation Progression
Pharmacotherapy, including beta-blockers and angiotensin II receptor blockers 10EB
Clinically significant aortic aneurysms
Surveillance 10EB
Pregnancy-associated complications
High risk pregnancy management 7DE
Visual deterioration
Periodic follow-up in ophthalmology clinic 6ED
2018/02/19
Released
1.0.0
Adverse effects of sports and other risky physical activities
Avoid contact sports and other risky physical activities 6DD
Aortic Dilation Progression
Pharmacotherapy, including beta-blockers and angiotensin II receptor blockers 10EB
Clinically significant aortic aneurysms
Surveillance 10EB
Pregnancy-associated complications
High risk pregnancy management 7DE
Visual deterioration
Periodic follow-up in ophthalmology clinic 6ED
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