ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Ornithine Transcarbamylase Deficiency
Gene/Gene Panel: OTC
Context: Pediatric
Date
Status
Release
Outcomes-Interventions
Notes
2023/06/28
Released
1.0.1
P
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) 9DB
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) 10AB
Internal system migration to amend the actionability rationale with respect to the assertion, definitive actionability.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
OTC ⇔ 0010703 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO
Strong Actionability
Definitive Actionability
2023/06/28
Released (Under revision)
1.0.0
P
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) 9DB
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) 10AB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
OTC ⇔ 0010703 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO
Strong Actionability
Definitive Actionability
2022/04/12
Released
1.0.0
P
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) 9DB
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) 10AB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
OTC ⇔ 0010703 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO
Strong Actionability
Definitive Actionability
2020/02/18
In Preparation
N/A
We have begun assessment of the Pediatric context for this topic
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