ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Birt-Hogg-Dubé syndrome
Gene/Gene Panel: FLCN
Context: Adult
Date
Status
Release
Outcomes-Interventions
Notes
2024/01/08
Released
2.0.1
A
Morbidity and mortality from pneumothorax (GroupA)
Anticipatory guidance regarding risk of pneumothorax including need for prompt intervention and imaging before anesthesia (GroupA) 8AD
Morbidity and mortality from renal tumors (GroupA)
Evaluation by specialist with imaging to detect renal tumors and guide treatment. (GroupA) 9AC
Updated MONDOs due to obsoletion
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
FLCN ⇔ 0800445 BIRT-HOGG-DUBE SYNDROME; BHD
Moderate Actionability
Moderate Actionability
2024/01/08
Released (Under revision)
2.0.0
A
Morbidity and mortality from pneumothorax (GroupA)
Anticipatory guidance regarding risk of pneumothorax including need for prompt intervention and imaging before anesthesia (GroupA) 8AD
Morbidity and mortality from renal tumors (GroupA)
Evaluation by specialist with imaging to detect renal tumors and guide treatment. (GroupA) 9AC
Scoring pairs updated with major updates in the report
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
FLCN ⇔ 0007607 BIRT-HOGG-DUBE SYNDROME; BHD
Moderate Actionability
Moderate Actionability
2023/09/07
Released
2.0.0
A
Morbidity and mortality from pneumothorax (GroupA)
Anticipatory guidance regarding risk of pneumothorax including need for prompt intervention and imaging before anesthesia (GroupA) 8AD
Morbidity and mortality from renal tumors (GroupA)
Evaluation by specialist with imaging to detect renal tumors and guide treatment. (GroupA) 9AC
Scoring pairs updated with major updates in the report
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
FLCN ⇔ 0007607 BIRT-HOGG-DUBE SYNDROME; BHD
Moderate Actionability
Moderate Actionability
2023/07/19
Released (Under revision)
1.2.2
A
Morbidity and mortality from masses (GroupA)
Imaging to detect renal masses when intervention is effective (GroupA) 9NC
Internal system migration associated with MONDO name addition.
2022/02/09
Released
1.2.2
A
Morbidity and mortality from masses (GroupA)
Imaging to detect renal masses when intervention is effective (GroupA) 9NC
Internal system migration associated with MONDO name addition.
2022/02/09
Released (Under revision)
1.2.1
A
Morbidity and mortality from masses (GroupA)
Imaging to detect renal masses when intervention is effective (GroupA) 9NC
MONDO IDs added
2020/05/02
Released
1.2.1
A
Morbidity and mortality from masses (GroupA)
Imaging to detect renal masses when intervention is effective (GroupA) 9NC
MONDO IDs added
2020/05/02
Released (Under revision)
1.2.0
A
Morbidity and mortality from masses (GroupA)
Imaging to detect renal masses when intervention is effective (GroupA) 9NC
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/10/03
Released
1.2.0
A
Morbidity and mortality from masses (GroupA)
Imaging to detect renal masses when intervention is effective (GroupA) 9NC
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/04/04
Released
1.1.0
A
Morbidity and mortality from masses
Imaging to detect renal masses when intervention is effective 9NC
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
1.0.3
A
Morbidity and mortality from masses
Imaging to detect renal masses when intervention is effective 9NC
Internal system migration related to score text replacement from E to N
2018/01/11
Released
1.0.2
A
Morbidity and mortality from masses
Imaging to detect renal masses when intervention is effective 9EC
2017/10/23
Released
1.0.1
A
Morbidity and mortality from masses
Imaging to detect renal masses when intervention is effective 9EC
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