ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Adrenoleukodystrophy
Gene/Gene Panel: ABCD1
Context: Pediatric
Date
Status
Release
Outcomes-Interventions
Notes
2024/04/15
Released
1.0.0
P
Morbidity and mortality due to adrenal insufficiency (males only) (GroupA)
Evaluation and management by specialist to guide hormone replacement (GroupA) 11CB
Morbidity and mortality due to cerebral adrenoleukodystrophy (males only) (GroupA)
Evaluation and surveillance by specialist to guide initiation of hematopoietic cell transplantation or gene therapy (GroupA) 9CB
New report for pediatric context.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
ABCD1 ⇔ 0018544 ADRENOLEUKODYSTROPHY; ALD
Strong Actionability
Strong Actionability
2024/02/19
In Preparation
N/A
We have begun assessment of the Pediatric context for this topic
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