ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Hereditary Hemorrhagic Telangiectasia
Gene/Gene Panel: ENG, SMAD4, ACVRL1, GDF2
Context: Pediatric
Date
Status
Release
Outcomes-Interventions
Notes
2024/03/24
Released
1.0.2
P
Morbidity and mortality from cerebral AVMs (GroupB)
Evaluation and surveillance by specialist to guide treatment with discussion about screening for cerebral AVM (GroupB) 7CC
Morbidity and mortality from pulmonary AVMs (GroupB)
Transthoracic contrast echocardiography (TTCE) to detect pulmonary AVM and assess pulmonary arterial hypertension (ACVRL1 or ENG only) (GroupB) 10NN
System migration to fix the sem versioning
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
ENG ⇔ 0008535 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1
Strong Actionability
Strong Actionability
ACVRL1 ⇔ 0010880 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2
Strong Actionability
Strong Actionability
SMAD4 ⇔ 0008278 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT
Strong Actionability
Strong Actionability
2024/03/24
Released (Under revision)
P
Morbidity and mortality from cerebral AVMs (GroupB)
Evaluation and surveillance by specialist to guide treatment with discussion about screening for cerebral AVM (GroupB) 7CC
Morbidity and mortality from pulmonary AVMs (GroupB)
Transthoracic contrast echocardiography (TTCE) to detect pulmonary AVM and assess pulmonary arterial hypertension (ACVRL1 or ENG only) (GroupB) 10NN
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
ENG ⇔ 0008535 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1
Strong Actionability
Strong Actionability
ACVRL1 ⇔ 0010880 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2
Strong Actionability
Strong Actionability
SMAD4 ⇔ 0008278 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT
Strong Actionability
Strong Actionability
2023/02/02
Released
P
Morbidity and mortality from cerebral AVMs (GroupB)
Evaluation and surveillance by specialist to guide treatment with discussion about screening for cerebral AVM (GroupB) 7CC
Morbidity and mortality from pulmonary AVMs (GroupB)
Transthoracic contrast echocardiography (TTCE) to detect pulmonary AVM and assess pulmonary arterial hypertension (ACVRL1 or ENG only) (GroupB) 10NN
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
ENG ⇔ 0008535 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1
Strong Actionability
Strong Actionability
ACVRL1 ⇔ 0010880 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2
Strong Actionability
Strong Actionability
SMAD4 ⇔ 0008278 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT
Strong Actionability
Strong Actionability
2023/02/02
Released (Under revision)
1.0.0
P
Morbidity and mortality from cerebral AVMs (GroupB)
Evaluation and surveillance by specialist to guide treatment with discussion about screening for cerebral AVM (GroupB) 7CC
Morbidity and mortality from pulmonary AVMs (GroupB)
Transthoracic contrast echocardiography (TTCE) to detect pulmonary AVM and assess pulmonary arterial hypertension (ACVRL1 or ENG only) (GroupB) 10NN
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
ENG ⇔ 0008535 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1
Strong Actionability
Strong Actionability
ACVRL1 ⇔ 0010880 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2
Strong Actionability
Strong Actionability
SMAD4 ⇔ 0008278 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT
Strong Actionability
Strong Actionability
2023/02/02
Released
1.0.0
P
Morbidity and mortality from cerebral AVMs (GroupB)
Evaluation and surveillance by specialist to guide treatment with discussion about screening for cerebral AVM (GroupB) 7CC
Morbidity and mortality from pulmonary AVMs (GroupB)
Transthoracic contrast echocardiography (TTCE) to detect pulmonary AVM and assess pulmonary arterial hypertension (ACVRL1 or ENG only) (GroupB) 10NN
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
ENG ⇔ 0008535 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1
Strong Actionability
Strong Actionability
ACVRL1 ⇔ 0010880 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2
Strong Actionability
Strong Actionability
SMAD4 ⇔ 0008278 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT
Strong Actionability
Strong Actionability
2021/09/15
In Preparation
N/A
We have begun assessment of the Pediatric context for this topic
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