ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Ehlers-Danlos Syndrome Type IV
Gene/Gene Panel: COL3A1
Context: Adult
Date
Status
Release
Outcomes-Interventions
Notes
2022/02/09
Released
2.0.1
A
Morbidity and mortality from arterial or organ rupture (GroupA)
Referral to specialists to guide appropriate risk management including surveillance for aneurysm (GroupA) 10CD
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
COL3A1 ⇔ 0017314 EHLERS-DANLOS SYNDROME, VASCULAR TYPE; EDSVASC
Strong Actionability
Moderate Actionability
2022/02/09
Released (Under revision)
2.0.0
A
Morbidity and mortality from arterial or organ rupture (GroupA)
Referral to specialists to guide appropriate risk management including surveillance for aneurysm (GroupA) 10CD
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
COL3A1 ⇔ 0017314 EHLERS-DANLOS SYNDROME, VASCULAR TYPE; EDSVASC
Strong Actionability
Moderate Actionability
2021/03/30
Released
2.0.0
A
Morbidity and mortality from arterial or organ rupture (GroupA)
Referral to specialists to guide appropriate risk management including surveillance for aneurysm (GroupA) 10CD
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
COL3A1 ⇔ 0017314 EHLERS-DANLOS SYNDROME, VASCULAR TYPE; EDSVASC
Strong Actionability
Moderate Actionability
2020/08/28
Released (Under revision)
1.2.1
A
Vascular or organ rupture or perforation (GroupA)
Avoidance of invasive procedures (GroupA) 10CA
Added MONDO IDs.
2020/04/22
Released
1.2.1
A
Vascular or organ rupture or perforation (GroupA)
Avoidance of invasive procedures (GroupA) 10CA
Added MONDO IDs.
2020/04/22
Released (Under revision)
1.2.0
A
Vascular or organ rupture or perforation (GroupA)
Avoidance of invasive procedures (GroupA) 10CA
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/10/03
Released
1.2.0
A
Vascular or organ rupture or perforation (GroupA)
Avoidance of invasive procedures (GroupA) 10CA
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/04/04
Released
1.1.0
A
Vascular or organ rupture or perforation
Avoidance of invasive procedures 10CA
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
1.0.2
A
Vascular or organ rupture or perforation
Avoidance of invasive procedures 10CA
Internal system migration related to score text replacement from E to N
2018/01/11
Released
1.0.1
A
Vascular or organ rupture or perforation
Avoidance of invasive procedures 10CA
2017/10/23
Released
1.0.0
A
Vascular or organ rupture or perforation
Avoidance of invasive procedures 10CA
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