ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Acute Intermittent Porphyria
Gene/Gene Panel: HMBS
Context: Adult
Date
Status
Release
Outcomes-Interventions
Notes
2024/01/03
Released
2.0.0
A
Morbidity and mortality from acute neurovisceral attacks (GroupA)
Evaluation and management by specialists, including hemin administration, avoidance of triggers, and patient education (GroupA) 10DB
Morbidity and mortality from hepatocellular carcinoma (HCC) (GroupA)
Evaluation and surveillance by specialists for early detection of HCC (GroupA) 8AB
Updated to original report
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
HMBS ⇔ 0008294 PORPHYRIA, ACUTE INTERMITTENT; AIP
Strong Actionability
Strong Actionability
2023/12/01
Released (Under revision)
1.2.2
A
Hepatocellular carcinoma (GroupA)
Liver US surveillance (GroupA) 10CC
Morbidity of acute attacks (GroupA)
Optimal treatment (Hemin) in the event of an attack (GroupA) 10CB
Neurovisceral attacks (GroupA)
Optimal clinical management to reduce risk of attacks (e.g., avoidance of harmful medications, dietary advice, treatment of infections, avoidance of smoking/alcohol) (GroupA) 9CB
Internal system migration associated with MONDO name addition.
2022/02/09
Released
1.2.2
A
Hepatocellular carcinoma (GroupA)
Liver US surveillance (GroupA) 10CC
Morbidity of acute attacks (GroupA)
Optimal treatment (Hemin) in the event of an attack (GroupA) 10CB
Neurovisceral attacks (GroupA)
Optimal clinical management to reduce risk of attacks (e.g., avoidance of harmful medications, dietary advice, treatment of infections, avoidance of smoking/alcohol) (GroupA) 9CB
Internal system migration associated with MONDO name addition.
2022/02/09
Released (Under revision)
1.2.1
A
Hepatocellular carcinoma (GroupA)
Liver US surveillance (GroupA) 10CC
Morbidity of acute attacks (GroupA)
Optimal treatment (Hemin) in the event of an attack (GroupA) 10CB
Neurovisceral attacks (GroupA)
Optimal clinical management to reduce risk of attacks (e.g., avoidance of harmful medications, dietary advice, treatment of infections, avoidance of smoking/alcohol) (GroupA) 9CB
MONDO added
2020/08/19
Released
1.2.1
A
Hepatocellular carcinoma (GroupA)
Liver US surveillance (GroupA) 10CC
Morbidity of acute attacks (GroupA)
Optimal treatment (Hemin) in the event of an attack (GroupA) 10CB
Neurovisceral attacks (GroupA)
Optimal clinical management to reduce risk of attacks (e.g., avoidance of harmful medications, dietary advice, treatment of infections, avoidance of smoking/alcohol) (GroupA) 9CB
MONDO added
2020/08/19
Released (Under revision)
1.2.0
A
Hepatocellular carcinoma (GroupA)
Liver US surveillance (GroupA) 10CC
Morbidity of acute attacks (GroupA)
Optimal treatment (Hemin) in the event of an attack (GroupA) 10CB
Neurovisceral attacks (GroupA)
Optimal clinical management to reduce risk of attacks (e.g., avoidance of harmful medications, dietary advice, treatment of infections, avoidance of smoking/alcohol) (GroupA) 9CB
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/10/03
Released
1.2.0
A
Hepatocellular carcinoma (GroupA)
Liver US surveillance (GroupA) 10CC
Morbidity of acute attacks (GroupA)
Optimal treatment (Hemin) in the event of an attack (GroupA) 10CB
Neurovisceral attacks (GroupA)
Optimal clinical management to reduce risk of attacks (e.g., avoidance of harmful medications, dietary advice, treatment of infections, avoidance of smoking/alcohol) (GroupA) 9CB
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/04/04
Released
1.1.0
A
Hepatocellular carcinoma
Liver US surveillance 10CC
Morbidity of acute attacks
Optimal treatment (Hemin) in the event of an attack 10CB
Neurovisceral attacks
Optimal clinical management to reduce risk of attacks (e.g., avoidance of harmful medications, dietary advice, treatment of infections, avoidance of smoking/alcohol) 9CB
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
1.0.4
A
Hepatocellular carcinoma
Liver US surveillance 10CC
Morbidity of acute attacks
Optimal treatment (Hemin) in the event of an attack 10CB
Neurovisceral attacks
Optimal clinical management to reduce risk of attacks (e.g., avoidance of harmful medications, dietary advice, treatment of infections, avoidance of smoking/alcohol) 9CB
Internal system migration related to score text replacement from E to N
2018/02/15
Released
1.0.3
A
Hepatocellular carcinoma
Liver US surveillance 10CC
Morbidity of acute attacks
Optimal treatment (Hemin) in the event of an attack 10CB
Neurovisceral attacks
Optimal clinical management to reduce risk of attacks (e.g., avoidance of harmful medications, dietary advice, treatment of infections, avoidance of smoking/alcohol) 9CB
2018/01/11
Released
1.0.2
A
Hepatocellular carcinoma
Liver US surveillance 10CC
Morbidity of acute attacks
Optimal treatment (Hemin) in the event of an attack 10CB
Neurovisceral attacks
Optimal clinical management to reduce risk of attacks (e.g., avoidance of harmful medications, dietary advice, treatment of infections, avoidance of smoking/alcohol) 9CB
2017/10/23
Released
1.0.1
A
Hepatocellular carcinoma
Liver US surveillance 10CC
Morbidity of acute attacks
Optimal treatment (Hemin) in the event of an attack 10CB
Neurovisceral attacks
Optimal clinical management to reduce risk of attacks (e.g., avoidance of harmful medications, dietary advice, treatment of infections, avoidance of smoking/alcohol) 9CB
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