ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Ornithine Transcarbamylase Deficiency
Gene/Gene Panel: OTC
Context: Adult
Date
Status
Release
Outcomes-Interventions
Notes
2022/04/11
Released
2.0.0
A
Morbidity and mortality due to hyperammonemic crises (females) (GroupA)
Referral to a specialist for evaluation, to guide dietary management, arginine/citrulline, nitrogen scavengers, and emergency management to mitigate hyperammonemic crises (GroupA) 10DB
Morbidity and mortality due to hyperammonemic crises (males) (GroupA)
Referral to a specialist for evaluation, to guide dietary management, arginine/citrulline, nitrogen scavengers, and emergency management to mitigate hyperammonemic crises (GroupA) 10CB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
OTC ⇔ 0010703 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO
Strong Actionability
Strong Actionability
2022/02/21
Released (Under revision)
1.2.2
A
Hyperammonemic encephalopathy (men) (GroupA)
Dietary modification (men) (GroupA) 9CN
Use of nitrogen scavengers (men) (GroupA) 10CN
Hyperammonemic encephalopathy (women) (GroupA)
Use of nitrogen scavengers (women) (GroupA) 9CN
Dietary modification (women) (GroupA) 8CN
Internal system migration associated with MONDO name addition.
2022/02/09
Released
1.2.2
A
Hyperammonemic encephalopathy (men) (GroupA)
Dietary modification (men) (GroupA) 9CN
Use of nitrogen scavengers (men) (GroupA) 10CN
Hyperammonemic encephalopathy (women) (GroupA)
Use of nitrogen scavengers (women) (GroupA) 9CN
Dietary modification (women) (GroupA) 8CN
Internal system migration associated with MONDO name addition.
2022/02/09
Released (Under revision)
1.2.1
A
Hyperammonemic encephalopathy (men) (GroupA)
Dietary modification (men) (GroupA) 9CN
Use of nitrogen scavengers (men) (GroupA) 10CN
Hyperammonemic encephalopathy (women) (GroupA)
Use of nitrogen scavengers (women) (GroupA) 9CN
Dietary modification (women) (GroupA) 8CN
MONDO IDs added, scoring groups unadjusted.
2020/12/23
Released
1.2.1
A
Hyperammonemic encephalopathy (men) (GroupA)
Dietary modification (men) (GroupA) 9CN
Use of nitrogen scavengers (men) (GroupA) 10CN
Hyperammonemic encephalopathy (women) (GroupA)
Use of nitrogen scavengers (women) (GroupA) 9CN
Dietary modification (women) (GroupA) 8CN
MONDO IDs added, scoring groups unadjusted.
2020/02/18
Released (Under revision)
1.2.0
A
Hyperammonemic encephalopathy (men) (GroupA)
Dietary modification (men) (GroupA) 9CN
Use of nitrogen scavengers (men) (GroupA) 10CN
Hyperammonemic encephalopathy (women) (GroupA)
Use of nitrogen scavengers (women) (GroupA) 9CN
Dietary modification (women) (GroupA) 8CN
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/10/03
Released
1.2.0
A
Hyperammonemic encephalopathy (men) (GroupA)
Dietary modification (men) (GroupA) 9CN
Use of nitrogen scavengers (men) (GroupA) 10CN
Hyperammonemic encephalopathy (women) (GroupA)
Use of nitrogen scavengers (women) (GroupA) 9CN
Dietary modification (women) (GroupA) 8CN
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/04/04
Released
1.1.0
A
Hyperammonemic encephalopathy (men)
Dietary modification (men) 9CN
Use of nitrogen scavengers (men) 10CN
Hyperammonemic encephalopathy (women)
Dietary modification (women) 8CN
Use of nitrogen scavengers (women) 9CN
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
1.0.2
A
Hyperammonemic encephalopathy (men)
Dietary modification (men) 9CN
Use of nitrogen scavengers (men) 10CN
Hyperammonemic encephalopathy (women)
Dietary modification (women) 8CN
Use of nitrogen scavengers (women) 9CN
Internal system migration related to score text replacement from E to N
2018/02/21
Released
1.0.1
A
Hyperammonemic encephalopathy (men)
Dietary modification (men) 9CE
Use of nitrogen scavengers (men) 10CE
Hyperammonemic encephalopathy (women)
Dietary modification (women) 8CE
Use of nitrogen scavengers (women) 9CE
2018/02/21
Released (Under revision)
1.0.0
A
Hyperammonemic encephalopathy
Dietary modification (men) 9CE
Dietary modification (women) 8CE
Use of nitrogen scavengers (men) 10CE
Use of nitrogen scavengers (women) 9CE
2018/01/12
Released
1.0.0
A
Hyperammonemic encephalopathy
Dietary modification (men) 9CE
Dietary modification (women) 8CE
Use of nitrogen scavengers (men) 10CE
Use of nitrogen scavengers (women) 9CE
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