ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Emery-Dreifuss Muscular Dystrophy (AD, XL)
Gene/Gene Panel: LMNA, EMD, FHL1
Context: Adult
Date
Status
Release
Outcomes-Interventions
Notes
2022/05/16
Released (Under revision)
A
Arrhythmias (GroupA)
Defibrillator/cardiac surveillance (GroupA) 7DC
Cerebral thromboembolism (GroupA)
Antithrombotic medications (GroupA) 6DC
Complications from anesthesia/surgery (GroupA)
Anesthesia management (GroupA) 7DC
Complications from pregnancy (GroupA)
Pregnancy management (GroupA) 7DC
Congestive heart failure (GroupA)
Pharmacotherapy/cardiac surveillance (GroupA) 7DC
Morbidity due to disorders of glucose and lipid metabolism associated with partial lipodystrophy (GroupA)
Metabolic evaluation (GroupA) 7DC
Scoliosis (GroupA)
Glucocorticoids (GroupA) 5DA
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
LMNA ⇔ 0016830 EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2
Limited Actionability
Assertion Pending
EMD ⇔ 0016830 EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1
Limited Actionability
Limited Actionability
FHL1 ⇔ 0016830 MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY; XMPMA
Limited Actionability
Limited Actionability
2022/05/16
Released
A
Arrhythmias (GroupA)
Defibrillator/cardiac surveillance (GroupA) 7DC
Cerebral thromboembolism (GroupA)
Antithrombotic medications (GroupA) 6DC
Complications from anesthesia/surgery (GroupA)
Anesthesia management (GroupA) 7DC
Complications from pregnancy (GroupA)
Pregnancy management (GroupA) 7DC
Congestive heart failure (GroupA)
Pharmacotherapy/cardiac surveillance (GroupA) 7DC
Morbidity due to disorders of glucose and lipid metabolism associated with partial lipodystrophy (GroupA)
Metabolic evaluation (GroupA) 7DC
Scoliosis (GroupA)
Glucocorticoids (GroupA) 5DA
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
LMNA ⇔ 0016830 EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2
Limited Actionability
Assertion Pending
EMD ⇔ 0016830 EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1
Limited Actionability
Limited Actionability
FHL1 ⇔ 0016830 MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY; XMPMA
Limited Actionability
Limited Actionability
2022/01/03
Released (Under revision)
1.1.1
A
Arrhythmias (GroupA)
Defibrillator/cardiac surveillance (GroupA) 7DC
Cerebral thromboembolism (GroupA)
Antithrombotic medications (GroupA) 6DC
Complications from anesthesia/surgery (GroupA)
Anesthesia management (GroupA) 7DC
Complications from pregnancy (GroupA)
Pregnancy management (GroupA) 7DC
Congestive heart failure (GroupA)
Pharmacotherapy/cardiac surveillance (GroupA) 7DC
Morbidity due to disorders of glucose and lipid metabolism associated with partial lipodystrophy (GroupA)
Metabolic evaluation (GroupA) 7DC
Scoliosis (GroupA)
Glucocorticoids (GroupA) 5DA
2020/04/20
Released
1.1.1
A
Arrhythmias (GroupA)
Defibrillator/cardiac surveillance (GroupA) 7DC
Cerebral thromboembolism (GroupA)
Antithrombotic medications (GroupA) 6DC
Complications from anesthesia/surgery (GroupA)
Anesthesia management (GroupA) 7DC
Complications from pregnancy (GroupA)
Pregnancy management (GroupA) 7DC
Congestive heart failure (GroupA)
Pharmacotherapy/cardiac surveillance (GroupA) 7DC
Morbidity due to disorders of glucose and lipid metabolism associated with partial lipodystrophy (GroupA)
Metabolic evaluation (GroupA) 7DC
Scoliosis (GroupA)
Glucocorticoids (GroupA) 5DA
2019/10/03
Released (Under revision)
1.1.0
A
Arrhythmias
Defibrillator/cardiac surveillance 7DC
Cerebral thromboembolism
Antithrombotic medications 6DC
Complications from anesthesia/surgery
Anesthesia management 7DC
Complications from pregnancy
Pregnancy management 7DC
Congestive heart failure
Pharmacotherapy/cardiac surveillance 7DC
Morbidity due to disorders of glucose and lipid metabolism associated with partial lipodystrophy
Metabolic evaluation 7DC
Scoliosis
Glucocorticoids 5DA
Internal system migration related to merging adult and pediatric contexts.
2019/04/04
Released
1.1.0
A
Arrhythmias
Defibrillator/cardiac surveillance 7DC
Cerebral thromboembolism
Antithrombotic medications 6DC
Complications from anesthesia/surgery
Anesthesia management 7DC
Complications from pregnancy
Pregnancy management 7DC
Congestive heart failure
Pharmacotherapy/cardiac surveillance 7DC
Morbidity due to disorders of glucose and lipid metabolism associated with partial lipodystrophy
Metabolic evaluation 7DC
Scoliosis
Glucocorticoids 5DA
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
1.0.2
A
Arrhythmias
Defibrillator/cardiac surveillance 7DC
Cerebral thromboembolism
Antithrombotic medications 6DC
Complications from anesthesia/surgery
Anesthesia management 7DC
Complications from pregnancy
Pregnancy management 7DC
Congestive heart failure
Pharmacotherapy/cardiac surveillance 7DC
Morbidity due to disorders of glucose and lipid metabolism associated with partial lipodystrophy
Metabolic evaluation 7DC
Scoliosis
Glucocorticoids 5DA
Internal system migration related to score text replacement from E to N
2018/04/09
Released
1.0.1
A
Arrhythmias
Defibrillator/cardiac surveillance 7DC
Cerebral thromboembolism
Antithrombotic medications 6DC
Complications from anesthesia/surgery
Anesthesia management 7DC
Complications from pregnancy
Pregnancy management 7DC
Congestive heart failure
Pharmacotherapy/cardiac surveillance 7DC
Morbidity due to disorders of glucose and lipid metabolism associated with partial lipodystrophy
Metabolic evaluation 7DC
Scoliosis
Glucocorticoids 5DA
2018/04/09
Released (Under revision)
1.0.0
A
Arrythmias
Defibrillator/cardiac surveillance 7DC
Cerebral thromboembolism
Antithrombotic medications 6DC
Complications from anesthesia/surgery
Anesthesia management 7DC
Complications from pregnancy
Pregnancy management 7DC
Congestive heart failure
Pharmacotherapy/cardiac surveillance 7DC
Morbidity due to disorders of glucose and lipid metabolism associated with partial lipodystrophy
Metabolic evaluation 7DC
Scoliosis
Glucocorticoids 5DA
2018/01/25
Released
1.0.0
A
Arrythmias
Defibrillator/cardiac surveillance 7DC
Cerebral thromboembolism
Antithrombotic medications 6DC
Complications from anesthesia/surgery
Anesthesia management 7DC
Complications from pregnancy
Pregnancy management 7DC
Congestive heart failure
Pharmacotherapy/cardiac surveillance 7DC
Morbidity due to disorders of glucose and lipid metabolism associated with partial lipodystrophy
Metabolic evaluation 7DC
Scoliosis
Glucocorticoids 5DA
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