ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Hereditary Hemorrhagic Telangiectasia
Gene/Gene Panel: ENG, ACVRL1, SMAD4, GDF2
Context: Adult
Date
Status
Release
Outcomes-Interventions
Notes
2024/03/24
Released
2.0.2
A
Morbidity and mortality from AVMs (GroupB)
Evaluation and surveillance by specialist to guide treatment (GroupB) 9NB
System migration to fix the sem versioning
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
ENG ⇔ 0008535 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1
Moderate Actionability
Moderate Actionability
ACVRL1 ⇔ 0010880 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2
Moderate Actionability
Moderate Actionability
SMAD4 ⇔ 0008278 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT
Moderate Actionability
Moderate Actionability
2024/03/24
Released (Under revision)
A
Morbidity and mortality from AVMs (GroupB)
Evaluation and surveillance by specialist to guide treatment (GroupB) 9NB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
ENG ⇔ 0008535 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1
Moderate Actionability
Moderate Actionability
ACVRL1 ⇔ 0010880 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2
Moderate Actionability
Moderate Actionability
SMAD4 ⇔ 0008278 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT
Moderate Actionability
Moderate Actionability
2023/02/02
Released
A
Morbidity and mortality from AVMs (GroupB)
Evaluation and surveillance by specialist to guide treatment (GroupB) 9NB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
ENG ⇔ 0008535 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1
Moderate Actionability
Moderate Actionability
ACVRL1 ⇔ 0010880 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2
Moderate Actionability
Moderate Actionability
SMAD4 ⇔ 0008278 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT
Moderate Actionability
Moderate Actionability
2023/02/02
Released (Under revision)
2.0.0
A
Morbidity and mortality from AVMs (GroupB)
Evaluation and surveillance by specialist to guide treatment (GroupB) 9NB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
ENG ⇔ 0008535 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1
Moderate Actionability
Moderate Actionability
ACVRL1 ⇔ 0010880 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2
Moderate Actionability
Moderate Actionability
SMAD4 ⇔ 0008278 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT
Moderate Actionability
Moderate Actionability
2023/02/02
Released
2.0.0
A
Morbidity and mortality from AVMs (GroupB)
Evaluation and surveillance by specialist to guide treatment (GroupB) 9NB
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
ENG ⇔ 0008535 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1
Moderate Actionability
Moderate Actionability
ACVRL1 ⇔ 0010880 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2
Moderate Actionability
Moderate Actionability
SMAD4 ⇔ 0008278 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT
Moderate Actionability
Moderate Actionability
2021/09/15
Released (Under revision)
1.1.2
A
Anticipatory treatment to avoid CAVM-related morbidity (ACVRL1) (GroupB)
Cerebral MRI (GroupB) 8NB
Anticipatory treatment to avoid CAVM-related morbidity (ENG) (GroupA)
Cerebral MRI (GroupA) 9NB
Anticipatory treatment to avoid CAVM-related morbidity (GDF2) (GroupD)
Cerebral MRI (GroupD) 7DB
Anticipatory treatment to avoid CAVM-related morbidity (SMAD4) (GroupC)
Cerebral MRI (GroupC) 8NB
Anticipatory treatment to avoid PAVM-related morbidity (ACVRL1) (GroupB)
TTCE (GroupB) 10NB
Anticipatory treatment to avoid PAVM-related morbidity (ENG) (GroupA)
TTCE (GroupA) 11NB
Anticipatory treatment to avoid PAVM-related morbidity (GDF2) (GroupD)
TTCE (GroupD) 8DB
Anticipatory treatment to avoid PAVM-related morbidity (SMAD4) (GroupC)
TTCE (GroupC) 11NB
Edited MONDO ID
2020/04/29
Released
1.1.2
A
Anticipatory treatment to avoid CAVM-related morbidity (ACVRL1) (GroupB)
Cerebral MRI (GroupB) 8NB
Anticipatory treatment to avoid CAVM-related morbidity (ENG) (GroupA)
Cerebral MRI (GroupA) 9NB
Anticipatory treatment to avoid CAVM-related morbidity (GDF2) (GroupD)
Cerebral MRI (GroupD) 7DB
Anticipatory treatment to avoid CAVM-related morbidity (SMAD4) (GroupC)
Cerebral MRI (GroupC) 8NB
Anticipatory treatment to avoid PAVM-related morbidity (ACVRL1) (GroupB)
TTCE (GroupB) 10NB
Anticipatory treatment to avoid PAVM-related morbidity (ENG) (GroupA)
TTCE (GroupA) 11NB
Anticipatory treatment to avoid PAVM-related morbidity (GDF2) (GroupD)
TTCE (GroupD) 8DB
Anticipatory treatment to avoid PAVM-related morbidity (SMAD4) (GroupC)
TTCE (GroupC) 11NB
Edited MONDO ID
2020/04/29
Released (Under revision)
1.1.1
A
Anticipatory treatment to avoid CAVM-related morbidity (ACVRL1) (GroupB)
Cerebral MRI (GroupB) 8NB
Anticipatory treatment to avoid CAVM-related morbidity (ENG) (GroupA)
Cerebral MRI (GroupA) 9NB
Anticipatory treatment to avoid CAVM-related morbidity (GDF2) (GroupD)
Cerebral MRI (GroupD) 7DB
Anticipatory treatment to avoid CAVM-related morbidity (SMAD4) (GroupC)
Cerebral MRI (GroupC) 8NB
Anticipatory treatment to avoid PAVM-related morbidity (ACVRL1) (GroupB)
TTCE (GroupB) 10NB
Anticipatory treatment to avoid PAVM-related morbidity (ENG) (GroupA)
TTCE (GroupA) 11NB
Anticipatory treatment to avoid PAVM-related morbidity (GDF2) (GroupD)
TTCE (GroupD) 8DB
Anticipatory treatment to avoid PAVM-related morbidity (SMAD4) (GroupC)
TTCE (GroupC) 11NB
added MONDO IDs and created scoring groups
2020/04/16
Released
1.1.1
A
Anticipatory treatment to avoid CAVM-related morbidity (ACVRL1) (GroupB)
Cerebral MRI (GroupB) 8NB
Anticipatory treatment to avoid CAVM-related morbidity (ENG) (GroupA)
Cerebral MRI (GroupA) 9NB
Anticipatory treatment to avoid CAVM-related morbidity (GDF2) (GroupD)
Cerebral MRI (GroupD) 7DB
Anticipatory treatment to avoid CAVM-related morbidity (SMAD4) (GroupC)
Cerebral MRI (GroupC) 8NB
Anticipatory treatment to avoid PAVM-related morbidity (ACVRL1) (GroupB)
TTCE (GroupB) 10NB
Anticipatory treatment to avoid PAVM-related morbidity (ENG) (GroupA)
TTCE (GroupA) 11NB
Anticipatory treatment to avoid PAVM-related morbidity (GDF2) (GroupD)
TTCE (GroupD) 8DB
Anticipatory treatment to avoid PAVM-related morbidity (SMAD4) (GroupC)
TTCE (GroupC) 11NB
added MONDO IDs and created scoring groups
2019/10/03
Released (Under revision)
1.1.0
A
Anticipatory treatment to avoid CAVM-related morbidity (ACVRL1)
Cerebral MRI 8NB
Anticipatory treatment to avoid CAVM-related morbidity (ENG)
Cerebral MRI 9NB
Anticipatory treatment to avoid CAVM-related morbidity (GDF2)
Cerebral MRI 7DB
Anticipatory treatment to avoid CAVM-related morbidity (SMAD4)
Cerebral MRI 8NB
Anticipatory treatment to avoid PAVM-related morbidity (ACVRL1)
TTCE 10NB
Anticipatory treatment to avoid PAVM-related morbidity (ENG)
TTCE 11NB
Anticipatory treatment to avoid PAVM-related morbidity (GDF2)
TTCE 8DB
Anticipatory treatment to avoid PAVM-related morbidity (SMAD4)
TTCE 11NB
Internal system migration related to merging adult and pediatric contexts.
2019/04/04
Released
1.1.0
A
Anticipatory treatment to avoid CAVM-related morbidity (ACVRL1)
Cerebral MRI 8NB
Anticipatory treatment to avoid CAVM-related morbidity (ENG)
Cerebral MRI 9NB
Anticipatory treatment to avoid CAVM-related morbidity (GDF2)
Cerebral MRI 7DB
Anticipatory treatment to avoid CAVM-related morbidity (SMAD4)
Cerebral MRI 8NB
Anticipatory treatment to avoid PAVM-related morbidity (ACVRL1)
TTCE 10NB
Anticipatory treatment to avoid PAVM-related morbidity (ENG)
TTCE 11NB
Anticipatory treatment to avoid PAVM-related morbidity (GDF2)
TTCE 8DB
Anticipatory treatment to avoid PAVM-related morbidity (SMAD4)
TTCE 11NB
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
1.0.2
A
Anticipatory treatment to avoid CAVM-related morbidity (ACVRL1)
Cerebral MRI 8NB
Anticipatory treatment to avoid CAVM-related morbidity (ENG)
Cerebral MRI 9NB
Anticipatory treatment to avoid CAVM-related morbidity (GDF2)
Cerebral MRI 7DB
Anticipatory treatment to avoid CAVM-related morbidity (SMAD4)
Cerebral MRI 8NB
Anticipatory treatment to avoid PAVM-related morbidity (ACVRL1)
TTCE 10NB
Anticipatory treatment to avoid PAVM-related morbidity (ENG)
TTCE 11NB
Anticipatory treatment to avoid PAVM-related morbidity (GDF2)
TTCE 8DB
Anticipatory treatment to avoid PAVM-related morbidity (SMAD4)
TTCE 11NB
Internal system migration related to score text replacement from E to N
2018/01/12
Released
1.0.1
A
Anticipatory treatment to avoid CAVM-related morbidity (ACVRL1)
Cerebral MRI 8EB
Anticipatory treatment to avoid CAVM-related morbidity (ENG)
Cerebral MRI 9EB
Anticipatory treatment to avoid CAVM-related morbidity (GDF2)
Cerebral MRI 7DB
Anticipatory treatment to avoid CAVM-related morbidity (SMAD4)
Cerebral MRI 8EB
Anticipatory treatment to avoid PAVM-related morbidity (ACVRL1)
TTCE 10EB
Anticipatory treatment to avoid PAVM-related morbidity (ENG)
TTCE 11EB
Anticipatory treatment to avoid PAVM-related morbidity (GDF2)
TTCE 8DB
Anticipatory treatment to avoid PAVM-related morbidity (SMAD4)
TTCE 11EB
2017/10/23
Released
1.0.0
A
Anticipatory treatment to avoid CAVM-related morbidity (ACVRL1)
Cerebral MRI 8EB
Anticipatory treatment to avoid CAVM-related morbidity (ENG)
Cerebral MRI 9EB
Anticipatory treatment to avoid CAVM-related morbidity (GDF2)
Cerebral MRI 7DB
Anticipatory treatment to avoid CAVM-related morbidity (SMAD4)
Cerebral MRI 8EB
Anticipatory treatment to avoid PAVM-related morbidity (ACVRL1)
TTCE 10EB
Anticipatory treatment to avoid PAVM-related morbidity (ENG)
TTCE 11EB
Anticipatory treatment to avoid PAVM-related morbidity (GDF2)
TTCE 8DB
Anticipatory treatment to avoid PAVM-related morbidity (SMAD4)
TTCE 11EB
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