ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Homozygous Familial Hypercholesterolemia
Gene/Gene Panel:
Context: Pediatric
Date
Status
Release
Outcomes-Interventions
Notes
2023/05/03
Released
1.0.3
P
Clinical cardiovascular events (GroupA)
Lipid lowering therapy (including apheresis) to FH appropriate LDL-C goal (GroupA) 10CA
Lipid lowering medications and diet to FH appropriate LDL-C goal (GroupA) 9CA
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
LDLR ⇔ 0007750 HYPERCHOLESTEROLEMIA, FAMILIAL, 1; FHCL1
Strong Actionability
Strong Actionability
APOB ⇔ 0007751 HYPERCHOLESTEROLEMIA, FAMILIAL, 2; FCHL2
Strong Actionability
Strong Actionability
PCSK9 ⇔ 0011369 HYPERCHOLESTEROLEMIA, FAMILIAL, 3; FHCL3
Strong Actionability
Strong Actionability
2023/03/30
Released (Under revision)
1.0.2
P
Clinical cardiovascular events (GroupA)
Lipid lowering therapy (including apheresis) to FH appropriate LDL-C goal (GroupA) 10CA
Lipid lowering medications and diet to FH appropriate LDL-C goal (GroupA) 9CA
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
LDLR ⇔ 0007750 HYPERCHOLESTEROLEMIA, FAMILIAL, 1; FHCL1
Strong Actionability
Strong Actionability
APOB ⇔ 0007751 HYPERCHOLESTEROLEMIA, FAMILIAL, 2; FCHL2
Strong Actionability
Strong Actionability
PCSK9 ⇔ 0011369 HYPERCHOLESTEROLEMIA, FAMILIAL, 3; FHCL3
Strong Actionability
Strong Actionability
2022/02/09
Released
1.0.2
P
Clinical cardiovascular events (GroupA)
Lipid lowering therapy (including apheresis) to FH appropriate LDL-C goal (GroupA) 10CA
Lipid lowering medications and diet to FH appropriate LDL-C goal (GroupA) 9CA
Internal system migration associated with MONDO name addition.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
LDLR ⇔ 0007750 HYPERCHOLESTEROLEMIA, FAMILIAL, 1; FHCL1
Strong Actionability
Strong Actionability
APOB ⇔ 0007751 HYPERCHOLESTEROLEMIA, FAMILIAL, 2; FCHL2
Strong Actionability
Strong Actionability
PCSK9 ⇔ 0011369 HYPERCHOLESTEROLEMIA, FAMILIAL, 3; FHCL3
Strong Actionability
Strong Actionability
2022/02/09
Released (Under revision)
1.0.1
P
Clinical cardiovascular events (GroupA)
Lipid lowering therapy (including apheresis) to FH appropriate LDL-C goal (GroupA) 10CA
Lipid lowering medications and diet to FH appropriate LDL-C goal (GroupA) 9CA
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
LDLR ⇔ 0007750 HYPERCHOLESTEROLEMIA, FAMILIAL, 1; FHCL1
Strong Actionability
Strong Actionability
APOB ⇔ 0007751 HYPERCHOLESTEROLEMIA, FAMILIAL, 2; FCHL2
Strong Actionability
Strong Actionability
PCSK9 ⇔ 0011369 HYPERCHOLESTEROLEMIA, FAMILIAL, 3; FHCL3
Strong Actionability
Strong Actionability
2021/05/04
Released
1.0.1
P
Clinical cardiovascular events (GroupA)
Lipid lowering therapy (including apheresis) to FH appropriate LDL-C goal (GroupA) 10CA
Lipid lowering medications and diet to FH appropriate LDL-C goal (GroupA) 9CA
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
LDLR ⇔ 0007750 HYPERCHOLESTEROLEMIA, FAMILIAL, 1; FHCL1
Strong Actionability
Strong Actionability
APOB ⇔ 0007751 HYPERCHOLESTEROLEMIA, FAMILIAL, 2; FCHL2
Strong Actionability
Strong Actionability
PCSK9 ⇔ 0011369 HYPERCHOLESTEROLEMIA, FAMILIAL, 3; FHCL3
Strong Actionability
Strong Actionability
2021/03/15
Released (Under revision)
1.0.0
P
Clinical cardiovascular events (GroupA)
Lipid lowering therapy (including apheresis) to FH appropriate LDL-C goal (GroupA) 10CA
Lipid lowering medications and diet to FH appropriate LDL-C goal (GroupA) 9CA
2020/09/16
Released
1.0.0
P
Clinical cardiovascular events (GroupA)
Lipid lowering therapy (including apheresis) to FH appropriate LDL-C goal (GroupA) 10CA
Lipid lowering medications and diet to FH appropriate LDL-C goal (GroupA) 9CA
2020/08/25
In Preparation
N/A
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