Update History
Condition: Alkaptonuria
Gene/Gene Panel: HGD
Context: Adult
2023/05/04
Released
(Under revision)
1.2.4
Aortic/cardiac disease
(GroupA)
Cardiology follow-up with periodic echocardiogram
(GroupA)
9NC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
HGD
⇔
0008753 ALKAPTONURIA; AKU
Moderate Actionability
Moderate Actionability
2023/05/04
Released
1.2.4
Aortic/cardiac disease
(GroupA)
Cardiology follow-up with periodic echocardiogram
(GroupA)
9NC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
HGD
⇔
0008753 ALKAPTONURIA; AKU
Moderate Actionability
Moderate Actionability
2022/07/07
Released
(Under revision)
1.2.3
Aortic/cardiac disease
(GroupA)
Cardiology follow-up with periodic echocardiogram
(GroupA)
9NC
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
HGD
⇔
0008753 ALKAPTONURIA; AKU
Moderate Actionability
Moderate Actionability
2022/02/09
Released
1.2.3
Aortic/cardiac disease
(GroupA)
Cardiology follow-up with periodic echocardiogram
(GroupA)
9NC
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
HGD
⇔
0008753 ALKAPTONURIA; AKU
Moderate Actionability
Moderate Actionability
2022/02/09
Released
(Under revision)
1.2.2
Aortic/cardiac disease
(GroupA)
Cardiology follow-up with periodic echocardiogram
(GroupA)
9NC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
HGD
⇔
0008753 ALKAPTONURIA; AKU
Moderate Actionability
Moderate Actionability
2021/12/06
Released
1.2.2
Aortic/cardiac disease
(GroupA)
Cardiology follow-up with periodic echocardiogram
(GroupA)
9NC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
HGD
⇔
0008753 ALKAPTONURIA; AKU
Moderate Actionability
Moderate Actionability
2021/09/20
Released
(Under revision)
1.2.1
Aortic/cardiac disease
(GroupA)
Cardiology follow-up with periodic echocardiogram
(GroupA)
9NC
Added MONDO ID
2020/04/29
Released
1.2.1
Aortic/cardiac disease
(GroupA)
Cardiology follow-up with periodic echocardiogram
(GroupA)
9NC
Added MONDO ID
2020/04/22
Released
(Under revision)
1.2.0
Aortic/cardiac disease
(GroupA)
Cardiology follow-up with periodic echocardiogram
(GroupA)
9NC
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/10/03
Released
1.2.0
Aortic/cardiac disease
(GroupA)
Cardiology follow-up with periodic echocardiogram
(GroupA)
9NC
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/04/04
Released
1.1.0
Aortic/cardiac disease
Cardiology follow-up with periodic echocardiogram
9NC
Internal system migration related to merging adult and pediatric contexts.
2019/02/06
Released
1.0.1
Aortic/cardiac disease
Cardiology follow-up with periodic echocardiogram
9NC
2019/02/06
Released
1.0.0
Aortic/cardiac disease
Cardiology follow-up with periodic echocardiogram
9NC
2018/12/18
In Preparation
N/A