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CDC CRC Screening CDS L2

Introduction

Introduction

This document includes a semi-structured representation of evidence-based narrative guidelines for Colorectal Cancer Screening. Semi-structured representation, also known as Level 2 representation of guideline content and recommendations essential for the development of computable clinical decision support (CDS) artifacts. It includes:

  1. High-level and mid-level flow diagrams that visually illustrate portions of the guidelines
  2. A brief description of each portion of the CDS logic
  3. Semi-structured logic statements that list required clinical concepts, inclusion criteria, exclusion criteria, events (decision points), and actions (output, e.g. recommendations).

How to Navigate the Specification

Start with Pathway. This page includes:

  • High-level flow diagram, which visually illustrate the main logic paths translated, applicable guidelines, and order of precedence and dependencies among logic paths.
  • A combined view of mid-level flow diagrams, which provide a more detailed view of each logic path and how they relate to each other.

Each logic path has a dedicated page under Logic Paths, which includes the mid-level flow diagram for the path, as well as semi-structured logic statements. These may refer to:

  • Data elements: logic statements used multiple times across the specification; and
  • Terminology: clinical concepts that will eventually be represented by lists of codes.

Pathway

The high-level flow diagram identifies several different patient populations based on a patient’s symptoms, past medical history and previous screening results. The flow diagram also points to the corresponding guidelines that outline how that patient should be cared for. The mid-level flow diagram (which is divided across several pages) provides a more detailed view of the logic. It describes how population criteria are defined and decision points that identify relevant guidelines and patient-specific recommendations.

High-Level Flow Diagram

Primary Screening DecisionLogic Path 3: Increased Risk Screening/SurveillanceCare Delivery and Follow-UpGenetic/Familial Risk ReferralLogic Path 1Screening EligibleLogic Path 2Decision to ScreenLogic Path 4Average Risk ScreeningScreening for Colorectal Cancer: US Preventive ServicesTask Force Recommendation Statement (2021)Logic Path 3AHereditary SyndromesGuidelines on genetic evaluation and management oflynch syndrome: A consensus statement by the USmulti-society task force on colorectal cancer (USMSTF,2014) ACG Clinical Guideline: Genetic Testing andManagement of Hereditary Gastrointestinal CancerSyndromes (ACG, 2015) Colorectal Cancer Screening: Recommendations forPhysicians and Patients From the U.S. Multi-Society TaskForce on Colorectal Cancer (USMSTF, 2017) Diagnosis and Management of Cancer Risk in theGastrointestinal Hamartomatous Polyposis Syndromes:Recommendations From the US Multi-Society Task Forceon Colorectal Cancer (USMSTF, 2022) Recommendations for Follow-Up After Colonoscopy andPolypectomy: A Consensus Update (USMSTF, 2020) NCCN Clinical Practice Guidelines in Oncology (NCCNGuidelines®) for Genetic/Familial High-RiskAssessment: Colorectal, Endometrial, and GastricV.2.2024 (NCCN, 2024)Logic Path 3BInflammatory Bowel DiseaseAGA Clinical Practice Update on Endoscopic Surveillanceand Management of Colorectal Dysplasia inInflammatory Bowel Diseases: Expert Review (AGA,2021) ACG Clinical Guideline: Primary Sclerosing Cholangitis(ACG, 2015) ACG Clinical Guideline: Management of Crohn’s Diseasein Adults (ACG, 2018) ACG Clinical Guideline: Ulcerative Colitis in Adults (ACG,2019) The role of endoscopy in inflammatory bowel disease(ASGE, 2015)Logic Path 3CPersonal History of CRCColonoscopy Surveillance after Colorectal CancerResection (USMSTF, 2016)Logic Path 3DFamily History of CRC orAdvanced PolypsColorectal Cancer Screening: Recommendations forPhysicians and Patients (USMSTF, 2017) ACG Clinical Guidelines: Colorectal Cancer Screening(ACG, 2021) Recommendations for Follow-Up After Colonoscopy andPolypectomy: A Consensus Update (USMSTF, 2020)Logic Path 3EPersonal History of NeoplasticPolypsRecommendations for Follow-Up After Colonoscopy andPolypectomy: A Consensus Update (USMSTF, 2020)Logic Path 5Due for Screening/SurveillanceLogic Path 6Screening Test IncompleteLogic Path 7Follow-up after Screening ResultColorectal Cancer Screening: Recommendations forPhysicians and Patients From the U.S. Multi-Society TaskForce on Colorectal Cancer (USMSTF, 2017) Screening for Colorectal Cancer: US Preventive ServicesTask Force Recommendation Statement (2021) Recommendations for Follow-Up After Colonoscopy andPolypectomy: A Consensus Update (USMSTF, 2020)ReportReportTest resultedLogic Path 9Genetic/Familial Risk ReferralACG Clinical Guideline: Genetic Testing andManagement of Hereditary Gastrointestinal CancerSyndromes (ACG, 2015)noyesnoyesnoyesnoyesyesyesnoyesyes

Mid-Level Flow Diagrams

Screening Decision/Genetic Risk Referral Mid-level Flow

Primary Screening DecisionLogic Path 1Screening EligibleLogic Path 2Decision to ScreenLogic Path 4Average Risk ScreeningIncreased Risk Screening/SurveillanceLogic Path 3Increased Risk ExclusionsLogic Path 3APersonal or Family History of Hereditary SyndromesLogic Path 3BInflammatory Bowel DiseaseLogic Path 3CPersonal History of CRCLogic Path 3DFamily History of CRC or Advanced PolypsLogic Path 3EPersonal History of Neoplastic PolypsLogic Path 9Genetic/Familial Risk ReferralHistory of totalcolectomyCurrent ColorectalCancer?Colorectal Signs orSymptoms?Recommendation: Considerdiagnostic work up or examinationEligible for screeningAge >= 86 years old?Age >= 76 years old?Recommendation: Selectively offerscreeningLife expectancy <10years?Recommendation: Discuss decisionto continue screeningHas risk factor(s) forcolorectal cancer?Recommendation: Stop screeningAverage risk screeningIncreased riskscreening/surveillanceAge >= 45 years old?Has prior screening?Recommendation: Start screening at45 years oldRecommendation: Continue routinescreeningRecommendation: Start screeningMost recent CRCscreening test iscolonoscopy?Most recent CRCscreening test isFOBT or FIT?Most recent CRCscreening test issDNA-FIT?Most recent CRCscreening test is CTcolonography?Most recent CRCscreening test isflexiblesigmoidoscopy?Update next due date 10 yearsUpdate next due date 1 yearUpdate next due date 1 to 3 yearsUpdate next due date 5 yearsUpdate next due date 5 yearsPersonal history of orat risk for hereditarycancer syndrome?Personal history ofinflammatory boweldisease?Personal history ofcolorectal cancer?Family history ofcolorectal cancer oradvanced polyp(s)?Personal history ofpotentiallyprecancerouspolyp(s)?Hereditary syndromes increased riskscreening/surveillanceIBD surveillancePost-colorectal cancer resectionsurveillanceFamily history increased riskscreening/surveillancePost-polypectomy surveillanceAverage risk screeningPersonal history ofLynch syndrome, FAP,AFAP, MAP, PJS, JPS,SPS or Cowdensyndrome?Genetic marker forLynch syndrome, FAP,AFAP, MAP, PJS, JPS,SPS or CowdenSyndrome?Family history ofgenetic marker forLynch syndrome, FAP,AFAP, MAP, PJS, JPS,or CowdenSyndrome?Family history of SPSor familial coloncancer type X?Recommendation: Refer to GIspecialist for colonoscopysurveillance recommendationsRecommendation: Colonoscopysurveillance recommendations forpatients with confirmed syndromeapplyPrimary SclerosingCholangitis?Indeterminate ormicroscopic colitis?Recommendation: initialcolonoscopy at PSC diagnosis andsurveillance colonoscopy every yearPatients not at increased risk forcolorectal cancerRecommendation: Initialcolonoscopy 8-10 years afterdisease onset and surveillancecolonoscopy every 1-5 yearsPersonal history ofcolorectal cancerresection?Recommendation: Colonoscopysurveillance starting 1 year aftersurgery or post-operative clearingcolonoscopyPersonal history ofpotentiallyprecancerouspolyp(s)?Endoscopistrecommendedinterval in mostrecent colonoscopy?Recommendation: Followendoscopist recommendationColorectal cancer orconfirmed advancedprecancerous polyp(s)in first-degreerelative(s)?Relationship to familymembers withcolorectal cancerknown?Recommendation: Follow averagerisk recommendationsPatient age >= 40?>= 2 first-degreerelatives affected?Relative's age atdiagnosis >= 60?Relatives' youngestage at diagnosis >=50?Patient is >= 10years younger thanrelatives' youngestage at diagnosis?Recommendation: Follow-up withendoscopistRecommendation: Need morecomprehensive family historyRecommendation: Colonoscopyevery 5 yearsRecommendation: Modalities andintervals per average riskrecommendationsRecommendation: Modality andinterval dependent on relative's ageat diagnosisRecommendation: Start screening atage 40Recommendation: Start screening10 years prior to relatives' youngestage at diagnosisRecommendation: Start screening at40 or earlierMost recent CRCscreening test iscolonoscopy?Recommendation: Patient should beunder colonoscopy surveillanceEndoscopistrecommendedinterval in mostrecent colonoscopy?Recommendation: Next due date perendoscopist-recommended intervalRecommendation: Follow-up withendoscopistFamily history ofinherited geneticsusceptibility tocolorectal cancer?Variant status known?Personal history ofsyndrome-relatedcancer diagnosedbefore age 50?Family history ofhereditarysyndrome-associatedcancer?1 or morefirst-degree relativediagnosed withhereditarysyndrome-associatedcancer diagnosedbefore age 50?3 or more relativeswith a hereditarysyndrome-associatedcancer?Recommendation: Consider referralto genetic counseling for possiblegenetic testingRecommendation: Consider referralto genetic counseling forcomprehensive cancer riskassessment/genetic evaluationnonoyesnonoyesnoyesyesnonoyesnoyesyesnoyesnoyesnoyesnoyesnoyesyesnoyesnoyesnoyesnoyesnoyesnoyesnoyesnoyesyesnoyesnoyesyesnoyesnoyesnoyesnoyesnoyesnoyesnounknownyesnoyesnounknownyesnoyesnoyesnonoyesnoyesyesnoyes

Care Delivery and Follow-up Mid-Level Flow

Care Delivery and Follow-upLogic Path 5Due for Screening/SurveillanceLogic Path 6Screening Test IncompleteLogic Path 7Follow-up Screening ResultNext due date isavailable?Due for screening?Patient outreachDecision to screenRecommendation: Order screeningtestPending order orreferral for colorectalscreening test?Screening test is pendingScreening test is completedMost recentscreening test iscolonoscopy?Colonoscopy findingof colorectal cancer?Diagnosis of CRCafter a malignantcolonoscopy finding?Endoscopistrecommendedinterval in mostrecent colonoscopy?Colonoscopyfinding(s) ofpotentiallyprecancerouspolyp(s)?Most recentscreening test isstool-based test?Inconclusivestool-based test?Positive stool-basedtest?Most recentscreening test isflexiblesigmoidoscopy?Flexiblesigmoidoscopyfinding(s) ofcolorectal cancer orpotentiallyprecancerouspolyp(s)?Most recentscreening test is CTcolonography?CT colonographyresult inconclusive?CT colonographyfinding(s) ofcolorectal cancer orpotentiallyprecancerouspolyp(s)?Recommendation: Refer foroncology evaluationRecommendation: Follow-up withendoscopistRecommendation: Repeat screeningRecommendation: Order follow-upcolonoscopyyesnodueoverdueyesnoyesnoyesnononoyesyesnoyesnoyesyesnoyesyesyesnoyes

Logic Paths

Semi-structured logic statements are comprised of three “sections” or components, each with a distinct purpose:

  • Inclusion - describes target population criteria
  • Exclusion - removes individuals from the target population based on evidence-based recommendations
  • CDS Events - describes a decision point or trigger in the logic that leads to a recommendation or action
  • CDS Actions - describes one or more “products” (e.g., calculations, recommendations) that the logic provides for a patient that meets the inclusion criteria, is not removed by the exclusion criteria, and meets the event criteria

Screening Eligible

Description

Determines whether colorectal cancer screening is viable or appropriate for a patient, regardless of risk level.

This path can be used to ensure any clinical decision support tools do not provide recommendations when screening is not appropriate or clinically applicable.

Mid-Level Flow Diagram

History of totalcolectomyCurrent ColorectalCancer?Colorectal Signs orSymptoms?endRecommendation: Considerdiagnostic work up or examinationEligible for screeningyesnoyesnoyesno

Semi-Structured Logic Statements

Inclusions

None.

Exclusions

None.

Events

NameDescription
History of total colectomy
'Total colectomy' is TRUE
Current Colorectal Cancer?
Colorectal Signs or Symptoms?

Actions

Eligible for screening
Description
Patient is eligible for colorectal screening.
Pseudocode
Recommendation: Consider diagnostic work up or examination
Description
Consider referral for a diagnostic workup or examination if patient has clinically significant signs or symptoms of colorectal cancer. Recommend aggressive evaluation (usually colonoscopy) of adults of age <50 years with colorectal symptoms, specifically those with bleeding symptoms: hematochezia, iron deficiency anemia, and/or melena with a negative upper endoscopy.

Source: USMSTF, 2017
Pseudocode

References

  • USMSTF (2017): Rex, D. K., et al. (2017). Colorectal Cancer Screening: Recommendations for Physicians and Patients From the U.S. Multi-Society Task Force on Colorectal Cancer. Gastroenterology, 153(1), 307-323. https://doi.org/10.1053/j.gastro.2017.05.013

Decision to Screen

Description

This logic path evaluates criteria for when to stop screening for colorectal cancer, and determines whether the patient is eligible for average risk screening, based on the risk factors outlined by USPSTF.

Mid-Level Flow Diagram

Age >= 86 years old?Age >= 76 years old?Recommendation: Selectively offerscreeningLife expectancy <10years?Recommendation: Discuss decisionto continue screeningHas risk factor(s) forcolorectal cancer?Recommendation: Stop screeningAverage risk screeningIncreased riskscreening/surveillancenoyesnoyesyesnonoyes

Semi-Structured Logic Statements

Inclusions

NameDescription
Patients eligible for screening
Patients for whom screening is clinically appropriate.
See 'Screening Eligible' logic path

Exclusions

None.

Events

NameDescription
Life expectancy <10 years?
Life expectancy, generally defined as having greater than a 50% probability of surviving 10 years, is < 10 years. A validated tool such as www.eprognosis.com can help guide decision making.
Age >= 76 years old?
Age >= 76 years old
Age >= 86 years old?
Age >= 86 years old
Has risk factor(s) for colorectal cancer?
See 'Increased Risk Exclusions' logic path

Actions

Average risk screening
Description
Patients who do not meet criteria for increased risk of colorectal cancer (as defined by USPSTF) can be screened as average risk patinnts.
Pseudocode
See 'Average Risk Screening' logic path.
Recommendation: Stop screening
Description
Recommendation: Evidence is lacking on benefits and harms of colorectal cancer screening for individuals aged 86 and older. Competing causes of mortality likely preclude survival benefit that would outweigh the harms of screening.
Pseudocode
Recommendation: Selectively offer screening
Description
The USPSTF recommends that clinicians selectively offer screening for colorectal cancer in adults aged 76 to 85 years.

Source: USPSTF, 2021
Pseudocode
Recommendation: Discuss decision to continue screening
Description
ACS advises that individuals should continue colorectal cancer screening as long as their overall health is good and they have a life expectancy of 10 years or more. Decision to continue screening in cases of limited life expectancy should be based on shared decision-making.

Source: ACS (2018)
Pseudocode
Increased risk screening/surveillance
Description
Patient is at increased risk for colorectal cancer based on one or more non-modifiable risk factors.
Pseudocode
See 'Increased Risk Exclusions' logic path for specific increased risk populations and recommendations for increased risk screening/surveillance.

References

  • ACS (2018): Wolf, A. M. D., et al. (2018). Colorectal cancer screening for average‐risk adults: 2018 guideline update from the American Cancer Society. CA: A Cancer Journal for Clinicians, 68(4), 250–281. https://doi.org/10.3322/caac.21457
  • USMSTF (2017): Rex, D. K., et al. (2017). Colorectal Cancer Screening: Recommendations for Physicians and Patients From the U.S. Multi-Society Task Force on Colorectal Cancer. Gastroenterology, 153(1), 307-323. https://doi.org/10.1053/j.gastro.2017.05.013
  • USPSTF (2021): Davidson, K. W., et al. (2021). Screening for Colorectal Cancer: US Preventive Services Task Force Recommendation Statement. JAMA - Journal of the American Medical Association, 325(19), 1965-1977. https://doi.org/10.1001/jama.2021.6238

Increased Risk Exclusions

Description

This logic path determines whether a patient should be considered for average risk colorectal cancer screening or increased risk screening or surveillance. Patients who meet criteria for higher than average risk for colorectal cancer, as defined in the U.S. Preventative Services Task Force (USPSTF), are excluded from average risk screening recommendations.

This path can be used to ensure that USPSTF average-risk recommendations are suppressed for patients meeting increased risk criteria. It can also be used to identify and surface risk factors for colorectal cancer, and to direct patients to appropriate screening/surveillance recommendations for increased risk populations.

Mid-Level Flow Diagram

Personal history of orat risk for hereditarycancer syndrome?Personal history ofinflammatory boweldisease?Personal history ofcolorectal cancer?Family history ofcolorectal cancer oradvanced polyp(s)?Personal history ofpotentiallyprecancerouspolyp(s)?Hereditary syndromes increased riskscreening/surveillanceIBD surveillancePost-colorectal cancer resectionsurveillanceFamily history increased riskscreening/surveillancePost-polypectomy surveillanceAverage risk screeningyesnoyesnoyesnoyesnoyesno

Semi-Structured Logic Statements

Inclusions

NameDescription
Patients eligible for screening
Patients for whom screening is clinically appropriate.
See 'Screening Eligible' logic path

Exclusions

None.

Events

NameDescription
Personal history of or at risk for hereditary cancer syndrome?
Patient has a clinical or genetic diagnosis of a colorectal cancer-associated hereditary syndrome, or is considered at risk for such a syndrome (e.g. suggestive family history, family history of confirmed mutation on a hereditary syndrome-associated gene).
Personal history of inflammatory bowel disease?
A personal history of inflammatory bowel disease (ulcerative colitis or Crohn's disease)
Personal history of colorectal cancer?
Family history of colorectal cancer or advanced polyp(s)?
First or second degree relative has or has had colorectal cancer.
Personal history of potentially precancerous polyp(s)?
Patient has potentially precancerous polyps.

Actions

Average risk screening
Description
Patient is eligible for colorectal screening as an average risk patient.
Pseudocode
See 'Average Risk Screening' logic path.
Hereditary syndromes increased risk screening/surveillance
Description
Patient is eligible for screening/surveillance due to having or being at risk for a hereditary cancer syndrome.
Pseudocode
See 'Hereditary Syndromes' logic path
IBD surveillance
Description
Patient is eligible for surveillance based on personal history of inflammatory bowel disease.
Pseudocode
See 'Inflammatory Bowel Disease' logic path.
Post-colorectal cancer resection surveillance
Description
Patient is eligible for surveillance after colorectal cancer resection.
Pseudocode
See 'Personal History of Colorectal Cancer' logic path.
Family history increased risk screening/surveillance
Description
Patient is eligible for increased risk screening or surveillance, considering family history of colorectal cancer and/or polyps, as well as personal history of polyps .
Pseudocode
See 'Family History of Colorectal Cancer or Advanced Polyps' logic path.
Post-polypectomy surveillance
Description
Patient is eligible for post-polypectomy surveillance recommendations.
Pseudocode
See 'Personal History of Potentially Precancerous Polyps' logic path.

Increased Risk Screening/Surveillance

This section outlines logic paths for screening/surveillance of patients who are at increased risk of developing colorectal cancer. These include screening of assymptomatic patients at increased risk for colorectal cancer (e.g. those with a family history of colorectal cancer), surveillance based on personal history (e.g. patients with a personal history of precancerous polyps), or surveillance as part of disease management (e.g. patients with inflammatory bowel disease). The guidelines supporting recommendations for colorectal cancer screening for increased-risk populations are population-specific.

Hereditary Syndromes

Description

This logic path provides recommendations for colorectal cancer surveillance in individuals with hereditary syndromes which carry an increased risk of colorectal cancer.

Mid-Level Flow Diagram

Personal history ofLynch syndrome, FAP,AFAP, MAP, PJS, JPS,SPS or Cowdensyndrome?Genetic marker forLynch syndrome, FAP,AFAP, MAP, PJS, JPS,SPS or CowdenSyndrome?Family history ofgenetic marker forLynch syndrome, FAP,AFAP, MAP, PJS, JPS,or CowdenSyndrome?Family history of SPSor familial coloncancer type X?Recommendation: Refer to GIspecialist for colonoscopysurveillance recommendationsRecommendation: Colonoscopysurveillance recommendations forpatients with confirmed syndromeapplyendyesnoyesnoyesnoyesno

Semi-Structured Logic Statements

Inclusions

NameDescription
Patients who have or are at risk for a hereditary syndrome associated with an increased risk of colorectal cancer
Patient has a clinical or genetic diagnosis of a colorectal cancer-associated hereditary syndrome, or is considered at risk for such a syndrome (e.g. suggestive family history, family history of confirmed mutation on a hereditary syndrome-associated gene).

Exclusions

None.

Events

NameDescription
Personal history of Lynch syndrome, FAP, AFAP, MAP, PJS, JPS, SPS or Cowden syndrome?
Patient has a diagnosis of a hereditary syndrome associated with increased risk for colorectal cancer.
Genetic marker for Lynch syndrome, FAP, AFAP, MAP, PJS, JPS, SPS or Cowden Syndrome?
Patient has a confirmed pathologic or likely pathologic genetic variant fpr a colorectal cancer-associated hereditary syndrome.
Family history of genetic marker for Lynch syndrome, FAP, AFAP, MAP, PJS, JPS, or Cowden Syndrome?
Patient has a family member with a confirmed pathologic or likely pathologic genetic variant for a colorectal cancer-associated hereditary syndrome.
Family history of SPS or familial colon cancer type X?
Patient has a family history of a syndrome not strongly associated with mutations in specific genes.
FAMILY HISTORY of `Serrated polyposis syndrome` in `First-degree relative` EXISTS
OR
FAMILY HISTORY of `Familial Colorectal Cancer Type X` EXISTS

Actions

Recommendation: Refer to GI specialist for colonoscopy surveillance recommendations
Description
RECOMMENDATION:
Refer to GI specialist for colorectal cancer (and possibly additional cancers) surveillance recommendations.

Patients with a hereditary cancer syndrome require specialized management and colonoscopy surveillance for colorectal cancer (as well as additional surveillance for other cancers). Recommendations on when to start surveillance and surveillance intervals vary according to the syndrome.
Pseudocode
Recommendation: Colonoscopy surveillance recommendations for patients with confirmed syndrome apply
Description
RECOMMENDATION:
Refer to GI specialist for colorectal cancer (and possibly additional cancers) surveillance recommendations.

Surveillance for patients at risk for colorectal cancer hereditary syndromes is generally the same as for patients diagnosed with the syndrome. Recommendations on when to start surveillance and surveillance intervals vary according to the syndrome.
Pseudocode

References

  • USMSTF (2014): Giardiello, F. M., et al. (2014). Guidelines on genetic evaluation and management of Lynch syndrome: A consensus statement by the US multi-society task force on colorectal cancer. American Journal of Gastroenterology, 109(8), 1159–1179. https://doi.org/10.1038/ajg.2014.186
  • ACG (2015): Syngal, S., et al. (2015). ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes. American Journal of Gastroenterology 110(2):p 223-262. https://doi.org/10.1038/ajg.2014.435
  • USMSTF (2017): Rex, D. K., et al. (2017). Colorectal Cancer Screening: Recommendations for Physicians and Patients From the U.S. Multi-Society Task Force on Colorectal Cancer. Gastroenterology, 153(1), 307–323. https://doi.org/10.1053/j.gastro.2017.05.013
  • USMSTF (2022): Boland, C. R., et al. (2022). Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer. Gastroenterology, 162(7), 2063–2085. https://doi.org/10.1053/j.gastro.2022.02.021
  • NCCN (2.2024): NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric V.2.2024. https://www.nccn.org/professionals/physician_gls/pdf/genetics_ceg.pdf

Inflammatory Bowel Disease

Description

This logic path provides colorectal cancer screening recommendations for individuals with inflammatory bowel disease (IBD), including Crohn’s disease and ulcerative colitis.

Mid-Level Flow Diagram

Primary SclerosingCholangitis?Indeterminate ormicroscopic colitis?Recommendation: initialcolonoscopy at PSC diagnosis andsurveillance colonoscopy every yearPatients not at increased risk forcolorectal cancerRecommendation: Initialcolonoscopy 8-10 years afterdisease onset and surveillancecolonoscopy every 1-5 yearsyesnoyesno

Semi-Structured Logic Statements

Inclusions

NameDescription
Patients with a personal history of inflammatory bowel disease
Patients with a personal history of inflammatory bowel disease (ulcerative colitis or Crohn's disease)

Exclusions

None.

Events

NameDescription
Primary Sclerosing Cholangitis?
CONDITIONS include `Primary Sclerosing Cholangitis`
Indeterminate or microscopic colitis?
CONDITIONS include `Indeterminate Colitis` with status active
OR
CONDITIONS include `Microscopic Colitis` with status active

Actions

Recommendation: initial colonoscopy at PSC diagnosis and surveillance colonoscopy every year
Description
RECOMMENDATION:
* Initial screening colonoscopy: at the time of PSC diagnosis.
* Surveillance interval: colonoscopy every year.

Source: AGA, 2021; ACG, 2015; ACG, 2018; ACG, 2019
Pseudocode
Patients not at increased risk for colorectal cancer
Description
Patients with microscopic or indeterminate colitis are not at increased risk for colorectal cancer.
Pseudocode
Recommendation: Initial colonoscopy 8-10 years after disease onset and surveillance colonoscopy every 1-5 years
Description
RECOMMENDATION:
* Initial screening colonoscopy: 8-10 years after disease onset.
* Modality and interval: colonoscopy every 1-5 years based on a recommendation from GI specialist.

Considerations:
* These recommendations do not apply to patients with Crohn's disease without colonic involvement.

Source: AGA, 2021; ASGE, 2015; ACG, 2019; ACG, 2018
Pseudocode

References

  • AGA (2021): Murthy, S. K., et al. (2021). AGA Clinical Practice Update on Endoscopic Surveillance and Management of Colorectal Dysplasia in Inflammatory Bowel Diseases: Expert Review. Gastroenterology, 161(3), 1043-1051.e4. https://doi.org/10.1053/j.gastro.2021.05.063
  • ACG (2015): Lindor, K. D., et al. (2015). ACG Clinical Guideline: Primary Sclerosing Cholangitis. American Journal of Gastroenterology, 110(5), 646-659. https://doi.org/10.1038/ajg.2015.112
  • ACG (2018): Lichtenstein, G.R., et al. (2018). ACG Clinical Guideline: Management of Crohn’s Disease in Adults. American Journal of Gastroenterology, 113(4), 481-517. https://doi.org/10.1038/ajg.2018.27
  • ACG (2019): Rubin, D. T., et al. (2019). ACG Clinical Guideline: Ulcerative Colitis in Adults. The American journal of gastroenterology, 114(3), 384–413. https://doi.org/10.14309/ajg.0000000000000152
  • ASGE (2015): Shergill, A.K., et al. (2015). The role of endoscopy in inflammatory bowel disease, Gastrointestinal Endoscopy, 81(5), 1101-1121.e13. https://doi.org/10.1016/j.gie.2014.10.030

Personal History of CRC

Description

This logic path provides recommendations on colorectal surveillance intervals for individuals with a personal history of CRC, as recommended by the U.S. Multi-Society Task Force of Colorectal Cancer (USMSTF).

Mid-Level Flow Diagram

Personal history ofcolorectal cancerresection?Recommendation: Colonoscopysurveillance starting 1 year aftersurgery or post-operative clearingcolonoscopyendyesno

Semi-Structured Logic Statements

Inclusions

NameDescription
Patients with a personal history of colorectal cancer in remission

Exclusions

None.

Events

NameDescription
Personal history of colorectal cancer resection?
`Colorectal cancer resection` PROCEDURE exists

Actions

Recommendation: Colonoscopy surveillance starting 1 year after surgery or post-operative clearing colonoscopy
Description
Initiate surveillance colonoscopy: 1 year after cancer resection or post-operative clearing colonoscopy. For patients with certain localized rectal cancers, additional local surveillance every 2-3 months for the first 2-3 after surgery/post-operative clearing colonoscopy should be considered.

Routine surveillance intervals:
* After the 1-year colonoscopy, the interval to the next colonoscopy should be 3 years (4 years after surgery or postoperative clearing colonoscopy).
* After the 3-year colonoscopy, the interval to the next colonoscopy should be 5 years (9 years after surgery or postoperative clearing colonoscopy).
* Subsequent colonoscopies should occur at 5-year intervals, until the benefit of continued surveillance is outweighed by diminishing life expectancy.

For patients with certain localized rectal cancers (e.g. partial, local or endoscopic excision or who did not receive neoadjuvant therapy), consider additional local surveillance with (flexible sigmoidoscopy or EUS) every 3-6 months for the first 2-3 years after surgery/perioperative colonoscopy.

Intervals for polyp surveillance:
If potentially precancerous polyps are detected in surveillance, the subsequent surveillance interval should be provided by the endoscopist, consistent with the shorter interval of:
* Recommendations for post-polypectomy surveillance
* Recommendations for surveillance after colorectal cancer resection (routine surveillance intervals above).

Source: USMSTF, 2016; USMSTF, 2020
Pseudocode

References

  • USMSTF (2016): Kahi, C. J., et al. (2016). Colonoscopy Surveillance after Colorectal Cancer Resection: Recommendations of the US Multi-Society Task Force on Colorectal Cancer. Gastroenterology, 150(3), 758-768.e11. https://doi.org/10.1053/j.gastro.2016.01.001
  • USMSTF (2020): Gupta, S., et al. (2020). Recommendations for Follow-Up After Colonoscopy and Polypectomy: A Consensus Update by the US Multi-Society Task Force on Colorectal Cancer. Gastroenterology, 158(4), 1131–1153.e5. https://doi.org/10.1053/j.gastro.2019.10.026

Family History of CRC or Advanced Polyps

Description

This logic path provides colorectal cancer screening recommendations for individuals with a family history of CRC or advanced polyps, according to recommendations from the U.S. Multi-Society Task Force of Colorectal Cancer (MSTF) and the American College of Gastroenterology (ACG).

Mid-Level Flow Diagram

Personal history ofpotentiallyprecancerouspolyp(s)?Endoscopistrecommendedinterval in mostrecent colonoscopy?Recommendation: Followendoscopist recommendationColorectal cancer orconfirmed advancedprecancerous polyp(s)in first-degreerelative(s)?Relationship to familymembers withcolorectal cancerknown?Recommendation: Follow averagerisk recommendationsPatient age >= 40?>= 2 first-degreerelatives affected?Relative's age atdiagnosis >= 60?Relatives' youngestage at diagnosis >=50?Patient is >= 10years younger thanrelatives' youngestage at diagnosis?Recommendation: Follow-up withendoscopistRecommendation: Need morecomprehensive family historyendRecommendation: Colonoscopyevery 5 yearsRecommendation: Modalities andintervals per average riskrecommendationsRecommendation: Modality andinterval dependent on relative's ageat diagnosisRecommendation: Start screening atage 40Recommendation: Start screening10 years prior to relatives' youngestage at diagnosisRecommendation: Start screening at40 or earlieryesnoyesnoyesnoyesnoyesnoyesnoyesnounknownyesnoyesnounknown

Semi-Structured Logic Statements

Inclusions

NameDescription
Family history of colorectal cancer or potentially precancerous polyp(s)?

Exclusions

None.

Events

NameDescription
Personal history of potentially precancerous polyp(s)?
Patient has potentially precancerous polyps.
Endoscopist recommended interval in most recent colonoscopy?
The interval recommended by the endoscopist for the next screening or surveillance colonoscopy.
'Recommended follow-up interval' associated with latest 'Colonoscopy' exists
Colorectal cancer or confirmed advanced precancerous polyp(s) in first-degree relative(s)?
FAMILY HISTORY includes `Colorectal Cancer` AND relationship is `First-degree relative`
OR STRUCTURED DOCUMENTATION of `Confirmed Advanced Precancerous Polyp(s) in First-Degree Relative`
Relationship to family members with colorectal cancer known?
Whether the relationship is specified when a patient has a family history of colorectal cancer
FAMILY HISTORY includes `Colorectal Cancer` AND relationship EXISTS
Patient age >= 40?
Patient age >= 40
>= 2 first-degree relatives affected?
Total number of first-degree relatives affected with either colorectal cancer or confirmed advanced precancerous polyp(s).
Structured documentation of `Number of affected relatives`value >=2
Relative's age at diagnosis >= 60?
Relatives' youngest age at diagnosis >= 50?
Patient is >= 10 years younger than relatives' youngest age at diagnosis?
Patient age is <= 10 years younger than relatives' youngest age at diagnosis.

Actions

Recommendation: Follow endoscopist recommendation
Description
Recommendation: Follow endoscopist-recommended interval for the next colonoscopy.

Considerations:
* Surveillance intervals should favor the shortest indicated interval based on family history or polyp findings.

Source: USMSTF (2020), USMSTF (2017).
Pseudocode
Next due date = DATE of latest 'Colonoscopy' date + 'Recommended follow-up interval' associated with latest 'Colonoscopy'
Recommendation: Follow-up with endoscopist
Description
Recommendation: Follow-up with endoscopist to determine appropriate interval for next colonoscopy.

Considerations:
* Surveillance intervals should favor the shortest indicated interval based on family history or polyp findings.

Source: USMSTF (2020), USMSTF (2017).
Pseudocode
Next due date = insufficient information to calculate next due date
Recommendation: Follow average risk recommendations
Description
Consideration: Patients with a family history of colorectal cancer or advanced polyp(s) in second-degree relatives should be treated as average risk.

Source: ACG (2021)
Pseudocode
Next due date = See "Decision to Screen (USPSTF)" logic path
Recommendation: Need more comprehensive family history
Description
Recommendation: A more comprehensive family history is needed to make a recommendation, including:
* Whether the relative(s) with a colorectal cancer or confirmed advanced polyp are/were first degree relative(s), i.e., mother, father, sibling or child (blood only).
* The age at which relative(s) was/were diagnosed with colorectal cancer or confirmed advanced polyp(s)

---

For patients with a single first-degree relative (mother, father, sibling, child) with colorectal cancer or an advanced polyp(s):
* If relative diagnosed at >= 60 years:
* Start screening at 40 years old.
* Modality and interval: tests and intervals are as per the average risk screening recommendations.
* If relative diagnosed at < 60 years old:
* Start screening 10 years before relative's age at diagnosis or age 40, whichever is earlier.
* Modality and interval: colonoscopy every 5 years.
* Considerations: If no significant neoplasia appears by age 60 years, can offer expanding the interval between colonoscopies.
For patients with 2 or more first-degree relatives with colorectal cancer or an advanced polyp:
* Start screening 10 years before the reatives' youngest age at diagnosis or age 40, whichever is earlier.
* Modality and interval: colonoscopy every 5 years.
Pseudocode
Next due date = insufficient information to calculate next due date
Recommendation: Colonoscopy every 5 years
Description
Recommendation:
* Start screening: Age 40 or 10 years before the youngest affected relative, whichever is earlier
* Modality and interval: colonoscopy every 5 years.

Considerations: For those with a single first-degree relative with colorectal cancer in whom no significant neoplasia appears by age 60 years, physicians can offer expanding the interval between colonoscopies.

Source: USMSTF (2017); ACG (2021)
Pseudocode
Next due date = today if NOT EXISTS 'Colonoscopy'
OR
Next due date = DATE of latest 'Colonoscopy' + 5 years
Recommendation: Modalities and intervals per average risk recommendations
Description
Recommendation:
* Start screening: Age 40
* Modality and interval: same as those for average-risk persons:
* Colonoscopy every 10 years
* High-sensitivity gFOBT or FIT every year
* sDNA-FIT every 1 to 3 years
* CT colonography every 5 years
* Flexible sigmoidoscopy every 5 years
* Flexible sigmoidoscopy every 10 years + FIT every year

Source: USMSTF (2017); ACG(2021)
Pseudocode
Next due date = today if NOT EXISTS 'Previous screening test result'
OR
Next due date = "See determine next due date" logic path if 'Previous screening test result' exists
Recommendation: Modality and interval dependent on relative's age at diagnosis
Description
Recommendation:
* If relative diagnosed at < 60, colonoscopy every 5 years.
* If relative diagnosed at >= 60, modalities and intervals are the same as for average-risk persons:
* Colonoscopy every 10 years
* High-sensitivity gFOBT or FIT every year
* sDNA-FIT every 1 to 3 years
* CT colonography every 5 years
* Flexible sigmoidoscopy every 5 years
* Flexible sigmoidoscopy every 10 years + FIT every year

Source: USMSTF (2017); USMSTF (2020); USPSTF (2021) - for modalities for average risk screening.
Pseudocode
Next due date = insufficient information to calculate next due date
Recommendation: Start screening at age 40
Description
Recommendation: Start screening: Age 40.

Source: USMSTF, 2017; ACG, 2021
Pseudocode
Next due date = Patient birthdate + 40 years
Recommendation: Start screening 10 years prior to relatives' youngest age at diagnosis
Description
Recommendations: Start screening: 10 years younger than the age at which the youngest first-degree relative was diagnosed.

Source: USMSTF(2017); ACG (2021).
Pseudocode
Next due date = 'Youngest affected relative age at diagnosis' - 10 years
Recommendation: Start screening at 40 or earlier
Description
Recommendation: Start screening: age 40 or 10 years younger than the age at which the youngest first-degree relative was diagnosed, whichever is earlier.

Source: USMSTF(2017); ACG (2021).
Pseudocode
Next due date = insufficient information to calculate next due date

References

  • USMSTF (2017): Rex, D. K., et al. (2017). Colorectal Cancer Screening: Recommendations for Physicians and Patients From the U.S. Multi-Society Task Force on Colorectal Cancer. Gastroenterology, 153(1), 307–323. https://doi.org/10.1053/j.gastro.2017.05.013
  • USMSTF (2020): Gupta, S., et al. (2020). Recommendations for Follow-Up After Colonoscopy and Polypectomy: A Consensus Update by the US Multi-Society Task Force on Colorectal Cancer. Gastrointestinal Endoscopy, Gastroenterology, The American Journal of Gastroenterology, 91(3), 463-485.e5. https://doi.org/10.1016/j.gie.2020.01.014
  • ACG (2021): Shaukat, A., et al. (2021). ACG Clinical Guidelines: Colorectal Cancer Screening 2021. American Journal of Gastroenterology, 116(3), 458-479. https://doi.org/10.14309/ajg.0000000000001122

Personal History of Neoplastic Polyps

Description

Mid-Level Flow Diagram

Most recent CRCscreening test iscolonoscopy?Recommendation: Patient should beunder colonoscopy surveillanceEndoscopistrecommendedinterval in mostrecent colonoscopy?Recommendation: Next due date perendoscopist-recommended intervalRecommendation: Follow-up withendoscopistyesnoyesno

Semi-Structured Logic Statements

Inclusions

NameDescription
Personal history of potentially precancerous polyp(s)
History of conventional adenoma or serrated lesion (sessile serrated polyp or traditional serrated adenoma)
CONDITIONS include `History of potentially precancerous polyps`
OR
'Finding(s) of potentially precancerous polyp(s)' associated with any previous 'Colonoscopy' exists

Exclusions

None.

Events

NameDescription
Most recent CRC screening test is colonoscopy?
Endoscopist recommended interval in most recent colonoscopy?
The interval recommended by the endoscopist for the next screening or surveillance colonoscopy.
'Recommended follow-up interval' associated with latest 'Colonoscopy' exists

Actions

Recommendation: Patient should be under colonoscopy surveillance
Description
Recommendation: Patient is at increased risk due to a history of potentially precancerous polyp(s). Colonoscopy surveillance is recommended.
Pseudocode
Recommendation: Next due date per endoscopist-recommended interval
Description
Recommendation: Follow endoscopist-recommended interval.

Considerations:
* Interval may be shorter than 10 years even if most recent colonoscopy is normal (e.g. when a patient had advanced adenoma(s) in baseline colonoscopy).
Pseudocode
Next due date = DATE of latest 'Colonoscopy' date + 'Recommended follow-up interval' associated with latest 'Colonoscopy'
Recommendation: Follow-up with endoscopist
Description
Recommendation: Follow-up with endoscopist to determine appropriate interval for next colonoscopy.

Considerations:
* Interval may be shorter than 10 years even if most recent colonoscopy is normal (e.g. when a patient had advanced adenoma(s) in baseline colonoscopy).
Pseudocode

References

  • USMSTF (2020): Gupta, S., et al. (2020). Recommendations for Follow-Up After Colonoscopy and Polypectomy: A Consensus Update by the US Multi-Society Task Force on Colorectal Cancer. Gastrointestinal Endoscopy, Gastroenterology, The American Journal of Gastroenterology, 91(3), 463-485.e5. https://doi.org/10.1016/j.gie.2020.01.014

Average Risk Screening

Description

This logic path provides recommendations on the age to start and to stop screening, modalities and screening intervals for average risk patients, based on U.S. Preventative Services Task Force (USPSTF). It also determines the next due date for screening for average risk patients, based on their age and screening history.

The path is intended for use with either individual patient alerts/flagging or for generating asynchronous reports on a cohort of patients in order to target outreach or escalation.

Mid-Level Flow Diagram

Age >= 45 years old?Has prior screening?Recommendation: Start screening at45 years oldRecommendation: Continue routinescreeningRecommendation: Start screeningnoyesyesno

Semi-Structured Logic Statements

Inclusions

None.

Exclusions

NameDescription
Patients not eligible for screening
See "Screening Eligible" logic path
Patients at increased risk for colorectal cancer
See "Increased Risk Exclusions" logic path

Events

NameDescription
Age >= 45 years old?
Age >= 45 years old
Has prior screening?
'FOBT test' EXISTS OR 'Stool DNA-FIT test' EXISTS OR 'Colonoscopy' EXISTS OR 'CT colonography' EXISTS OR 'Flexible sigmoidoscopy' EXISTS

Actions

Recommendation: Start screening at 45 years old
Description
Start screening at 45 years old.
Pseudocode
Next due date = date patient is 45 years old.

Source: USPSTF, 2021
Recommendation: Start screening
Description
Start screening now.
Patients at average risk for colorectal cancer screening should start screening at 45 years old.

Average risk recommended screening strategies and intervals:
* Colonoscopy every 10 years
* High-sensitivity gFOBT or FIT every year
* sDNA-FIT every 1 to 3 years
* CT colonography every 5 years
* Flexible sigmoidoscopy every 5 years
* Flexible sigmoidoscopy every 10 years + FIT every year

Source: USPSTF, 2021
Pseudocode
Next due date = now
Recommendation: Continue routine screening
Description
Continue routine screening.

Average risk recommended screening strategies and intervals:
* Colonoscopy every 10 years
* High-sensitivity gFOBT or FIT every year
* sDNA-FIT every 1 to 3 years
* CT colonography every 5 years
* Flexible sigmoidoscopy every 5 years
* Flexible sigmoidoscopy every 10 years + FIT every year

Source: USPSTF, 2021
Pseudocode
See 'Determine Next Due Date' logic path.

References

  • USPSTF (2021): Davidson, K. W., et al. (2021). Screening for Colorectal Cancer: US Preventive Services Task Force Recommendation Statement. JAMA - Journal of the American Medical Association, 325(19), 1965-1977. https://doi.org/10.1001/jama.2021.6238

Determine Next Due Date (Average Risk)

Description

Mid-Level Flow Diagram

Most recent CRCscreening test iscolonoscopy?Most recent CRCscreening test isFOBT or FIT?Most recent CRCscreening test issDNA-FIT?Most recent CRCscreening test is CTcolonography?Most recent CRCscreening test isflexiblesigmoidoscopy?Update next due date 10 yearsUpdate next due date 1 yearUpdate next due date 1 to 3 yearsUpdate next due date 5 yearsUpdate next due date 5 yearsendyesnoyesnoyesnoyesnoyesno

Semi-Structured Logic Statements

Inclusions

NameDescription
Patients eligible for screening
See 'Screening Eligible' logic path
Patients at average risk for colorectal cancer
See 'Increased Risk Exclusions' logic path

Exclusions

None.

Events

NameDescription
Most recent CRC screening test is colonoscopy?
Flexible sigmoidoscopy done within past 10 years?
current date minus DATE of latest 'Flexible sigmoidoscopy' is < 10 years
Most recent CRC screening test is FOBT or FIT?
Most recent CRC screening test is sDNA-FIT?
Most recent CRC screening test is CT colonography?
Most recent CRC screening test is flexible sigmoidoscopy?

Actions

Update next due date 10 years
Description

Source: USPSTF, 2021
Pseudocode
Next due date = DATE of latest 'Colonoscopy' + MIN('Recommended follow-up interval', 10 years)
Update next due date 1 year
Description
Source: USPSTF, 2021
Pseudocode
Next due date = DATE of latest 'FOBT test' + 1 year
Update next due date 1 to 3 years
Description
Source: USPSTF, 2021
Pseudocode
Next due date range = [DATE of latest 'Stool DNA-FIT test' + 1 year, DATE of latest 'Stool DNA-FIT test' + 3 years]
Update next due date 5 years
Description
Source: USPSTF, 2021
Pseudocode
Next due date = DATE of latest 'CT colonography' + 5 years
Update next due date 5 years
Description
Flex sig interval can be extended to 10 years if annual FIT is performed
Source: USPSTF, 2021
Pseudocode
Next due date = DATE of latest 'Flexible sigmoidoscopy' + MIN('Recommended follow-up interval', 5 years)

References

  • USPSTF (2021): Davidson, K. W., et al. (2021). Screening for Colorectal Cancer: US Preventive Services Task Force Recommendation Statement. JAMA - Journal of the American Medical Association, 325(19), 1965-1977. https://doi.org/10.1001/jama.2021.6238

Genetic/Familial Risk Referral

Description

This logic path provides recommendations for referral to genetic counseling for genetic/familial cancer risk assessment and consideration for genetic testing. These recommendations are provided independently of screening/surveillance recommendations, but are intending to act as an available stepping stone to in determining if the patient’s risk for colorectal cancer justifies intensified screening/surveillance initiation and intervals.

Mid-Level Flow Diagram

Family history ofinherited geneticsusceptibility tocolorectal cancer?Variant status known?Personal history ofsyndrome-relatedcancer diagnosedbefore age 50?Family history ofhereditarysyndrome-associatedcancer?1 or morefirst-degree relativediagnosed withhereditarysyndrome-associatedcancer diagnosedbefore age 50?3 or more relativeswith a hereditarysyndrome-associatedcancer?endRecommendation: Consider referralto genetic counseling for possiblegenetic testingRecommendation: Consider referralto genetic counseling forcomprehensive cancer riskassessment/genetic evaluationyesnoyesnoyesnoyesnoyesnoyesno

Semi-Structured Logic Statements

Inclusions

NameDescription
Patients eligible for screening
Patients for whom screening is clinically appropriate.
See 'Screening Eligible' logic path

Exclusions

None.

Events

NameDescription
Family history of inherited genetic susceptibility to colorectal cancer?
Variant status known?
Patient has been tested for the familial variant and a result is available.
Personal history of syndrome-related cancer diagnosed before age 50?
Patient has a history of a hereditary syndrome-related cancer diagnosed before age 50.
Family history of hereditary syndrome-associated cancer?
Patient has a family history of a cancer associated with a hereditary syndrome.
1 or more first-degree relative diagnosed with hereditary syndrome-associated cancer diagnosed before age 50?
Patient has at least one first-degree relative (mother, father, sibling or child) diagnosed with a hereditary cancer syndrome-related cancer before age 50.
FAMILY HISTORY includes DIAGNOSIS `Cancers Associated with Hereditary Cancer Syndromes Conferring Increased Risk of Colorectal Cancer` AND age at diagnosis <= 50 years
3 or more relatives with a hereditary syndrome-associated cancer?
Patient has 3 or more relatives (first-degree relatives - mother, father, sibling, or child - or second degree relatives - grandparents, half-siblings, first cousins, aunts and uncles, nieces and nephews)

Actions

Recommendation: Consider referral to genetic counseling for possible genetic testing
Description
RECOMMENDATION:
Cancer risk assessment and genetic counseling are highly recommended when genetic testing is offered, including consideration of the most appropriate tests to order.

Source: NCCN (2024)
Pseudocode
Recommendation: Consider referral to genetic counseling for comprehensive cancer risk assessment/genetic evaluation
Description
RECOMMENDATION:
Consider conducting a more comprehensive family history and/or referral to genetic counseling for a cancer risk assessment.

Source: ACG (2014), NCCN (2024)
Pseudocode

References

  • USMSTF (2014): Giardiello, F. M., et al. (2014). Guidelines on genetic evaluation and management of Lynch syndrome: A consensus statement by the US multi-society task force on colorectal cancer. American Journal of Gastroenterology, 109(8), 1159–1179. https://doi.org/10.1038/ajg.2014.186
  • NCCN (2.2024): NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric V.2.2024. https://www.nccn.org/professionals/physician_gls/pdf/genetics_ceg.pdf

Due for Screening

Description

This logic path determines if a patient is due or overdue for screening/surveillance based a documented next due date.

This path is intended to flag patients for individual patient alerts, within the context of a clinical encounter or outside an encounter, or for generating asynchronous reports on a cohort/panel of patients in order to target outreach or escalation.

Mid-Level Flow Diagram

Next due date isavailable?Due for screening?Patient outreachDecision to screenRecommendation: Order screeningtestendyesnoduenot dueoverdue

Semi-Structured Logic Statements

Inclusions

NameDescription
Patients eligible for screening
See 'Screening Eligible' logic path

Exclusions

None.

Events

NameDescription
Next due date is available?
Documented next due date, based on output of previous pathways.
EXISTS next due date
Due for screening?
Refer to next due date, which is the output of previous pathways involving assessment of patient history and risk factors, to determine whether patient is currently due for screening study, overdue or not yet due.
OVERDUE if next due date >= 6 months ago
DUE if next due date within 3 months from now OR < 6 months ago
Otherwise NOT DUE

Actions

Decision to screen
Description
Determine if screening/surveillance is appropriate and if so, when the next due date should be.
Pseudocode
See 'Decision to screen logic path'
Patient outreach
Description
Overdue alert
Pseudocode
Recommendation: Order screening test
Description
ORDER for recommended screening test if 'Most recent pending order or referral for colorectal screening test' does not exist
Pseudocode

References

Screening Test Incomplete

Description

This logic path determines if a patient has a pending screening test result. This includes primary screening tests - colonoscopy or non-colonoscopy - as well as a follow-up colonoscopy after an abnormal non-colonoscopy test has been ordered.

The path is intended for use with either individual patient alerts/flagging or for generating asynchronous reports on a cohort of patients in order to target outreach or escalation.

Mid-Level Flow Diagram

Semi-Structured Logic Statements

Inclusions

NameDescription
Patients eligible for screening
See 'Screening Eligible' logic path

Exclusions

None.

Events

NameDescription
Pending colonoscopy order without subsequent report?
'Pending colonoscopy' exists
AND
Date of latest 'Colonoscopy' does not exists OR is before date 'Pending colonoscopy' order or referral was placed
Pending CT colonography order without subsequent report?
'Pending CT colonography' exists
AND
Date of latest 'CT colonography' does not exists OR is before date 'Pending CT colonography' order or referral was placed
Pending flexible sigmoidoscopy order without subsequent report?
'Pending flexible sigmoidoscopy' exists
AND
Date of latest 'Flexible sigmoidoscopy' does not exists OR is before date 'Pending flexible sigmoidoscopy' order or referral was placed
Pending sDNA-FIT order without subsequent report?
'Pending stool DNA-FIT test' exists
AND
Date of latest 'Stool DNA-FIT test' does not exists OR is before date 'Pending stool DNA-FIT test' order or referral was placed
Pending gFOBT or FIT order without subsequent report?
'Pending FOBT test' exists
AND
Date of latest 'FOBT test' does not exists OR is before date 'Pending FOBT test' order or referral was placed
Patient population
Population to which the patient fits criteria

Actions

Pending screening test
Description
Patient has incomplete screening tests
Pseudocode
Patient has incomplete screening tests

Follow-up Screening Result

Description

This logic path makes recommendations and provides considerations for next steps after a screening colonoscopy, stool test, flexible sigmoidoscopy, or CT colonography.

The path may be triggered when a screening test report/results are available for review, and is intended for use with either individual patient alerts/flagging, or for generating asynchronous reports on any post-colonoscopy follow-up (e.g. documenting next screening due date, any follow-up with endoscopist).

Mid-Level Flow Diagram

Most recent screeningtest is colonoscopy?Colonoscopy finding ofcolorectal cancer?Diagnosis of CRC aftera malignantcolonoscopy finding?Endoscopistrecommended intervalin most recentcolonoscopy?Colonoscopy finding(s)of potentiallyprecancerous polyp(s)?Most recent screeningtest is stool-based test?Inconclusivestool-based test?Positive stool-basedtest?Most recent screeningtest is flexiblesigmoidoscopy?Flexible sigmoidoscopyfinding(s) of colorectalcancer or potentiallyprecancerous polyp(s)?Most recent screeningtest is CTcolonography?CT colonography resultinconclusive?CT colonographyfinding(s) of colorectalcancer or potentiallyprecancerous polyp(s)?Recommendation: Refer for oncologyevaluationendRecommendation: Follow-up withendoscopistRecommendation: Repeat screeningRecommendation: Order follow-upcolonoscopyyesnoyesnoyesnoyesnoyesnoyesnoyesnoyesnoyesnoyesnoyesnoyesnoyesno

Semi-Structured Logic Statements

Inclusions

NameDescription
Patients eligible for screening
See 'Screening Eligible' logic path
Patients at average risk for colorectal cancer
See 'Increased Risk Exclusions' logic path

Exclusions

None.

Events

NameDescription
Most recent screening test is colonoscopy?
Colonoscopy finding of colorectal cancer?
Colonoscopy finding of colorectal cancer.
Finding of colorectal cancer' associated with latest 'Colonoscopy' exists
Diagnosis of CRC after a malignant colonoscopy finding?
Colonoscopy finding(s) of potentially precancerous polyp(s)?
Finding of adenoma(s), sessile serrated polyps, traditional serrated adenomas, or hyperplastic polyps >= 10 mm in size.
Endoscopist recommended interval in most recent colonoscopy?
The interval recommended by the endoscopist for the next screening or surveillance colonoscopy.
'Recommended follow-up interval' associated with latest 'Colonoscopy' exists
Most recent screening test is stool-based test?
Inconclusive stool-based test?
Positive stool-based test?
Most recent screening test is flexible sigmoidoscopy?
Flexible sigmoidoscopy finding(s) of colorectal cancer or potentially precancerous polyp(s)?
Most recent screening test is CT colonography?
CT colonography result inconclusive?
'Finding of inadequate CT Colonography' associated with latest 'CT colonography' EXISTS
CT colonography finding(s) of colorectal cancer or potentially precancerous polyp(s)?
'C-RADS category C4 finding' associated with latest 'CT colonography' exists
OR
'C-RADS category C2, C2a, C2a OR C3 finding' associated with latest 'CT colonography' exists

Actions

Recommendation: Repeat screening
Description
Repeat screening due to inconclusive test results.
Pseudocode
Recommendation: Order follow-up colonoscopy
Description
Order follow-up colonoscopy.

Positive stool-based tests or abnormal findings identified by flexible sigmoidoscopy ot CT colonoscopy require follow-up with colonoscopy for the screening benefits to be achieved.
Pseudocode
Recommendation: Refer for oncology evaluation
Description
REFERRAL for Oncology evaluation
Pseudocode
Recommendation: Follow-up with endoscopist
Description
Recommend to follow-up with endoscopist to determine appropriate interval for next screening/surveillance colonoscopy.
Pseudocode

References

  • USMSTF (2017): Rex, D. K., et al. (2017). Colorectal Cancer Screening: Recommendations for Physicians and Patients From the U.S. Multi-Society Task Force on Colorectal Cancer. Gastroenterology, 153(1), 307-323. https://doi.org/10.1053/j.gastro.2017.05.013
  • USMSTF (2020): Gupta, S., et al. (2020). Recommendations for Follow-Up After Colonoscopy and Polypectomy: A Consensus Update by the US Multi-Society Task Force on Colorectal Cancer. Gastrointestinal Endoscopy, Gastroenterology, The American Journal of Gastroenterology, 91(3), 463-485.e5. https://doi.org/10.1016/j.gie.2020.01.014
  • USPSTF (2021): Davidson, K. W., et al. (2021). Screening for Colorectal Cancer: US Preventive Services Task Force Recommendation Statement. JAMA - Journal of the American Medical Association, 325(19), 1965-1977. https://doi.org/10.1001/jama.2021.6238

Data Elements and Terminology

Data elements are logic statements that are used throughout the semi-structured specification to enhance readibility and reduce redundancy of frequently used logic phrases.

Terminology defines sets of clinical concepts and convey the specific distinguishing characteristics of the included member concepts.

Data Elements

NameDescription
Colorectal cancer resection
Resection of colon or rectal cancer
PROCEDURES INCLUDE `Colorectal Cancer Resection` with status completed
Colorectal signs or symptoms
Patient reported symptoms or has signs concerning for colorectal cancer after the last screening test.
REVIEW OF SYMPTOMS includes `Blood in Stool`
OR
REVIEW OF SYMPTOMS includes `Iron-deficiency Anemia without Specified Cause`
OR
REVIEW OF SYMPTOMS inclues `Non-bleeding colorectal symptoms`
OR
CONDITIONS include `Blood in Stool`
OR
CONDITIONS include `Iron-deficiency Anemia without Specified Cause`
OR
CONDITIONS include `Non-bleeding colorectal symptoms`
Confirmed advanced precancerous polyp(s) in first-degree relative(s)
Confirmed advanced polyp (polyp >= 10 mm, adenoma with tubulovillous or villous hystology, or adenoma or serrated lesion (sessile serrated polyp, traditional serrated adenoma) with high-grade dysplasia.
CT colonography
Evidence of results from CT colonography. Can be determined from presence of diagnostic report or result documented in a structured form.
DIAGNOSTIC REPORT of type `CT colonography` exists
OR
Documented result of `CT colonography` exists
Colonoscopy
Evidence of results from colonoscopy. Can be determined from presence of diagnostic report or result documented in a structured form.
DIAGNOSTIC REPORT of type `Colonoscopy` exists
OR
Documented result of `Colonoscopy Procedure` exists
Current colorectal cancer
Currently diagnosed with invasive or non-invasive colorectal cancer, without having achieved remission
CONDITIONS include `Colorectal Cancer` with status active
Family history of colorectal cancer
Patient has one or more relatives with a history of colorectal cancer
CONDITIONS include `Family History of Colorectal Cancer`
OR
FAMILY HISTORY includes DIAGNOSIS `Colorectal Cancer`
OR
FAMILY HISTORY includes DIAGNOSIS `History of Colorectal Cancer`
Family history of genetic marker for hereditary syndrome associated with colorectal cancer
FAMILY HISTORY includes DIAGNOSIS 'Genetic marker for Lynch syndrome'
OR
FAMILY HISTORY includes DIAGNOSIS 'Genetic marker for FAP/AFAP'
OR
FAMILY HISTORY includes DIAGNOSIS 'Genetic marker for MAP'
OR
FAMILY HISTORY includes DIAGNOSIS 'Genetic marker for Peutz-Jeghers syndrome'
OR
FAMILY HISTORY includes DIAGNOSIS 'Genetic marker for juvenile polyposis syndrome'
OR
FAMILY HISTORY includes DIAGNOSIS 'Genetic marker for Cowden syndrome'
Family history of hereditary syndrome associated with colorectal cancer
FAMILY HISTORY includes DIAGNOSIS `Lynch syndrome`
OR
FAMILY HISTORY includes DIAGNOSIS `Familial adenomatous polyposis`
OR
FAMILY HISTORY includes DIAGNOSIS `Attenuated familial adenomatous polyposis`
OR
FAMILY HISTORY includes DIAGNOSIS `MUTYH-associated polyposis`
OR
FAMILY HISTORY includes DIAGNOSIS `Peutz-Jegher syndrome`
OR
FAMILY HISTORY includes DIAGNOSIS `Juvenile polyposis syndrome`
OR
FAMILY HISTORY includes DIAGNOSIS `Serrated polyposis syndrome`
OR
FAMILY HISTORY includes DIAGNOSIS `Cowden syndrome`
OR
FAMILY HISTORY includes DIAGNOSIS `Familial Colorectal Cancer Type X`
Family history of potentially precancerous polyp(s)
Patient has one or more relatives with a history of advanced polyps
Finding of adequate bowel preparation
DIAGNOSTIC REPORT result of `Adequate bowel preparation`
OR
STRUCTURED DOCUMENTATION of `Adequate bowel preparation`
Finding of colorectal cancer
Finding of colorectal cancer as a result of a direct visualization test.
DIAGNOSTIC REPORT result of `Colorectal cancer finding`
OR
STRUCTURED DOCUMENTATION `Colorectal cancer finding`
C-RADS category C4 finding
Finding of colorectal cancer (C-RADS category C4) as a result associated a diagnostic report or structured documentation.
DIAGNOSTIC REPORT result of `C-RADS category C4`
OR
STRUCTURED DOCUMENTATION of `C-RADS category C4`
Finding of inadequate CT Colonography
Finding of inadequate study (C-RADS category C0) as a result associated a diagnostic report or structured documentation.
DIAGNOSTIC REPORT result of `C-RADS category C0`
OR
STRUCTURED DOCUMENTATION of `C-RADS category C0`
Finding(s) of potentially precancerous polyp(s)
Finding of potentially precancerous polyp(s) as a result of a diagnostic report or structured documentation
DIAGNOSTIC REPORT result is `Potentially Precancerous Polyp Finding(s)`
OR
STRUCTURED DOCUMENTATION of `Potentially Precancerous Polyp Finding(s)`EXISTS
Flexible sigmoidoscopy
Evidence of results from flexible sigmoidoscopy. Can be determined from presence of diagnostic report or result documented in a structured form.
DIAGNOSTIC REPORT of type `Flexible Sigmoidoscopy`exists
OR
Documented result of `Flexible Sigmoidoscopy Procedure`exists
C-RADS category C2, C2a, C2a OR C3 finding
Finding of potentially precancerous polyp(s) (C-RADS categories C2a and C3, or C2 prior to 2023) in a diagnostic report or in structured documentation.
DIAGNOSTIC REPORT result of `C-RADS category C2a`
OR
DIAGNOSTIC REPORT result of `C-RADS category 3`
OR
DIAGNOSTIC REPORT result of `C-RADS category C2`
OR
STRUCTURED DOCUMENTATION of `C-RADS category C2a``
OR
STRUCTURED DOCUMENTATION of `C-RADS category 3`
OR
STRUCTURED DOCUMENTATION of `C-RADS category C2`
Recommended follow-up interval
Diagnostic report result or structured documentation of the recommended interval for the next screening or surveillance test provided by the endoscopist.
DIAGNOSTIC REPORT result with code `Recommended follow-up interval` AND result VALUE EXISTS
OR
STRUCTURED DOCUMENTATION of `Recommended follow-up interval` AND VALUE EXISTS
Complete colonoscopy
Finding of examination complete to cecum.
DIAGNOSTIC REPORT result of `Complete Colonoscopy`
OR
STRUCTURED DOCUMENTATION of `Complete Colonoscopy`
Genetic marker for hereditary syndrome associated with colorectal cancer
Patient has tested positive for a pathogenic or likely pathogenic variant of a gene associated with hereditary syndrome that puts patients at increased risk of colorectal cancer.
Hereditary syndrome-associated variant status known
Patient has been tested for a known familial pathogenic/likely pathogenic variant associated with a hereditary cancer syndrome.
STRUCTURED DOCUMENTATION of `Lynch-syndrome associated variant status`exists
OR
STRUCTURED DOCUMENTATION of `APC variant status`exists
OR
STRUCTURED DOCUMENTATION of `MUYTH variant status`exists
OR
STRUCTURED DOCUMENTATION of `STK variant status`exists
OR
STRUCTURED DOCUMENTATION of `BMPR1A variant status` exists
OR
STRUCTURED DOCUMENTATION of `SMAD4 variant status`exists
OR
STRUCTURED DOCUMENTATION of `PTEN variant status`exists
Genetic marker for Lynch syndrome
Patient has tested positive for a pathogenic or likely pathogenic variant of a gene associated with Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM)
Genetic marker for FAP/AFAP
Patient has tested positive for a pathogenic or likely pathogenic variant of a gene associated with FAP/AFAP (APC).
STRUCTURED DOCUMENTATION of `APC variant status`exists AND (`Genetic variation clinical significance` is `Pathogenic` OR `Likely Pathogenic`)
Genetic marker for MAP
Patient has tested positive for a pathogenic or likely pathogenic variant of a gene associated with MAP (MUTYH).
Genetic marker for Peutz-Jeghers syndrome
Patient has tested positive for a pathogenic or likely pathogenic variant of a gene associated with Peutz-Jeghers syndrome (STK11).
STRUCTURED DOCUMENTATION of `STK variant status`exists AND `Genetic variation clinical significance` is `Pathogenic`
Genetic marker for juvenile polyposis syndrome
Patient has tested positive for a pathogenic or likely pathogenic variant of a gene associated with juvenile polyposis syndrome (BMPR1A, SMAD4).
STRUCTURED DOCUMENTATION of `BMPR1A variant status`EXISTS AND (`Genetic variation clinical significance` is `Pathogenic`)
OR
STRUCTURED DOCUMENTATION of `SMAD4 variant status`exists AND `Genetic variation clinical significance` is `Pathogenic`)
Genetic marker for Cowden syndrome
Patient has tested positive for a pathogenic or likely pathogenic variant of a gene associated with Cowden syndrome (PTEN)
STRUCTURED DOCUMENTATION of `PTEN variant status`exists AND (`Genetic variation clinical significance` is `Pathogenic`OR `Likely pathogenic`)
FOBT test
Evidence of results for fecal occult blood test (gFOBT or FIT)
LABORATORY TEST with code `Fecal Occult Blood Test` AND status (final OR ammended or corrected)
Pending colonoscopy
Active order or referral for colonoscopy.
ORDER with code `Colonoscopy Procedure` AND active status
OR
REFERRAL with code `Colonoscopy Procedure` AND active status
Pending CT colonography
Active order or referral for colonoscopy.
ORDER with code `CT Colonography Procedure` AND active status
OR
REFERRAL with code `CT Colonography Procedure` AND active status
Pending flexible sigmoidoscopy
Active order or referral for colonoscopy.
ORDER with code `Flexible Sigmoidoscopy Procedure` AND active status
OR
REFERRAL with code `Flexible Sigmoidoscopy Procedure` AND active status
Pending FOBT test
Active order or referral for colonoscopy.
ORDER with code `Fecal Occult Blood Test` AND active status
OR
REFERRAL with code `Fecal Occult Blood Test` AND active status
Pending stool DNA-FIT test
Active order or referral for colonoscopy.
ORDER with code `Stool DNA-FIT test` AND active status
OR
REFERRAL with code `Stool DNA-FIT test` AND active status
Most recent screening test is colonoscopy
'Colonoscopy' EXISTS AND NOT EXISTS latest of (latest 'FOBT test', latest 'Stool DNA-FIT test', latest 'CT colonography', latest 'Flexible sigmoidoscopy')
OR
'Colonoscopy' EXISTS AND Date of latest 'Colonoscopy' is after DATE of latest of (latest 'FOBT test', latest 'Stool DNA-FIT test', latest 'CT colonography', latest 'Flexible sigmoidoscopy')
Most recent screening test is CT colonography
'CT colonography' EXISTS AND NOT EXISTS latest of (latest 'FOBT test', latest 'Stool DNA-FIT test', latest 'Colonoscopy', latest 'Flexible sigmoidoscopy')
OR
'CT colonography' EXISTS AND DATE of latest 'CT colonography'is after DATE of latest of (latest 'FOBT test', latest 'Stool DNA-FIT test', latest 'Colonoscopy', latest 'Flexible sigmoidoscopy')
Most recent screening test is flexible sigmoidoscopy
'Flexible sigmoidoscopy' EXISTS AND NOT EXISTS latest of (latest 'FOBT test', latest 'Stool DNA-FIT test', latest 'Colonoscopy', latest 'CT colonography')
OR
'Flexible sigmoidoscopy' exists and DATE of latest 'Flexible sigmoidoscopy' is after DATE of latest of (latest 'FOBT test', latest 'Stool DNA-FIT test', latest 'Colonoscopy', latest 'CT colonography')
Most recent screening test is gFOBT or FIT test
'FOBT test' EXISTS AND NOT EXISTS latest of (latest 'stool DNA-FIT test', latest 'Colonoscopy', latest 'CT colonography', latest 'Flexible sigmoidoscopy')
OR
'FOBT test' EXISTS AND DATE of latest 'FOBT test' is after DATE of latest of (latest 'Stool DNA-FIT test', latest 'Colonoscopy', latest 'CT colonography', latest 'Flexible sigmoidoscopy')
Most recent screening test is stool DNA-FIT test
'Stool DNA-FIT test' EXISTS AND NOT EXISTS DATE of latest of (latest 'FOBT test', latest 'Colonoscopy', latest 'CT colonography', latest 'Flexible sigmoidoscopy')
OR
'Stool DNA-FIT test' EXISTS AND DATE of latest 'Stool DNA-FIT test' is after DATE of latest of (latest 'FOBT test', latest 'Colonoscopy', latest 'CT colonography', latest 'Flexible sigmoidoscopy')
Patient receiving Hospice Services
Hospice services used by patient during the measurement period.
CONDITIONS or ENCOUNTER DIAGNOSES include codes from `Hospice Intervention` or `Hospice Encounter`
Patient receiving Palliative Care Services
Palliative care services used by patient during the measurement period.
CONDITIONS or ENCOUNTER DIAGNOSES include codes from `Palliative Care Intervention` or `Palliative Care Encounter`
OR
CONDITIONS include `Palliative Care Diagnosis`
Patient age 66 or older in Institutional Special Needs Plans or residing in long-term care facility
Patients age 66 or older in Institutional Special Needs Plans (SNP) or residing in long term care with POS code 32, 33, 34, 54, or 56 for more than 90 consecutive days during the measurement period.
AGE >= 66 years
AND
ENCOUNTER DIAGNOSES with POS code 32, 33, 34, 54 or 56 for more than 90 consecutive days
Patient with Frailty AND Medication for Dementia
Patients 66 years of age and older with at least one claim/encounter for frailty during the measurement period AND a dispensed medication for dementia during the measurement period or the year prior to the measurement period.
AGE >= 66 years
AND
>= 1 ENCOUNTER DIAGNOSES include `Frailty Diagnosis`
AND
>= 1 MEDICATIONS include `Dementia Medications` with dispense
Patient with Frailty AND Advanced Illness
Patients 66 years of age and older with at least one claim/encounter for frailty during the measurement period AND either one acute inpatient encounter with a diagnosis of advanced illness or two outpatient, observation, ED or nonacute inpatient encounters on different dates of service with an advanced illness diagnosis during the measurement period or the year prior to the measurement period.
AGE >= 66 years
AND
>= 1 ENCOUNTER DIAGNOSES include `Frailty Diagnosis`
AND EITHER
>= 1 ENCOUNTER of type acute inpatient where DIAGNOSES include `Advanced Illness`
OR
>= 2 ENCOUNTERS of type outpatient, observation, ED or nonacute inpatient where DIAGNOSES include `Advanced Illness`
Personal history of colorectal cancer
Past history of invasive or non-invasive colorectal cancer, with remission.
CONDITIONS include `Colorectal Cancer` with status inactive OR status in remission
OR CONDITIONS include `History of Colorectal Cancer`
Personal history of Crohns disease
CONDITIONS include `Crohn's Disease` with status active
CONDITIONS include `Crohn's Disease` with status in remission
Personal history of hereditary syndrome associated with colorectal cancer
CONDITIONS include `Lynch syndrome` with status active
OR
CONDITIONS include `Familial adenomatous polyposis` with status active
OR
CONDITIONS include `Attenuated familial adenomatous polyposis` with status active
OR
CONDITIONS include `MUTYH-associated polyposis` with status active
OR
CONDITIONS include `Serrated polyposis syndrome` with status active
OR
CONDITIONS include `Juvenile polyposis syndrome` with status active
OR
CONDITIONS include `Peutz-Jegher syndrome` with status active
OR
CONDITIONS include `Cowden syndrome` with status active
Personal history of inflammatory bowel disease
Personal history of IBD (Ulcerative colitis or Crohn's disease)
Personal history of potentially precancerous polyp(s)
Personal history of ulcerative colitis
CONDITIONS include `Ulcerative Colitis` with status active
OR
CONDITIONS include `Ulcerative Colitis` with status in remission
Previous screening test result
Evidence of past results for any of the USPSTF recommended colorectal cancer screening tests.
Stool DNA-FIT test
Multitargeted stool DNA test with fecal immunochemical testing (MT-sDNA or FIT-DNA or sDNA-FIT)
LABORATORY TEST with code `Stool DNA-FIT test`and status final
OR
LABORATORY TEST with code `Stool DNA-FIT test`and status ammended
OR
LABORATORY TEST with code `Stool DNA-FIT test`and status corrected
Total colectomy
Patient has a history of total resection of the colon.
PROCEDURES INCLUDE `Total Colectomy` with status completed
Youngest affected relative age at diagnosis
Age at diagnosis for relative diagnosed earliest in life with either colorectal cancer or confirmed advanced precancerous polyp(s).
STRUCTURED DOCUMENTATION of `Age of earliest affected relative at diagnosis` VALUE

Terminology

Terminology defines sets of clinical concepts and convey the specific distinguishing characteristics of the included member concepts.

  • Clinical Focus - A statement describing the general focus of the set, including a description of the intended constituent concepts. This can include information about clinical relevancy or a statement about the general focus of the set.
  • Inclusions - A statement that describes what specific concept or code criteria are included and why.
  • Exclusions - A statement that describes what specific concept or code criteria would normally be included, but are specifically excluded by the authors, including their rationale for exclusions.
Adequate bowel preparation
Clinical Focus
Bowel preparation adequate for visualization of polyps >5 mm in size
Inclusions
Exclusions
Type
Direct Reference Code
Code/Value Set URI
code "Adequate Bowel Preparation": "703141002" from "SNOMED-CT" display 'Effective bowel preparation for procedure (finding)'
Code System(s)
SNOMED CT
FHIR Element
Observation.code
Status
#TODO
Notes
Age of earliest affected relative at diagnosis
Clinical Focus
Age at which the first-degree relative who was affected earliest was diagnosed
Inclusions
Exclusions
Type
Direct Reference Code
Code/Value Set URI
TBD
Code System(s)
TBD
FHIR Element
Observation.code
Questionnaire.item.code
Status
#TODO
Notes
May end up being calculated if we set up the questionnaire at more granular level (e.g. relative and age at diagnosis),
APC variant status
Clinical Focus
Inclusions
Exclusions
Type
Code/Value Set URI
Code System(s)
FHIR Element
Status
#TODO
Notes
Attenuated familial adenomatous polyposis
Clinical Focus
Diagnosis codes for attenuated familial adenomatous polyposis
Inclusions
Exclusions
Type
Direct Reference Code
Code/Value Set URI
code "AFAP SNOMED": ' 715866009 ' from SCT display 'Attenuated familial adenomatous polyposis (disorder)'
code "AFAP ICD-10": 'D13.91' from "ICD-10" display 'Familial adenomatous polyposis'

concept "AFAP": {"AFAP SNOMED", "AFAP ICD10"} display 'Attenuated familial adenomatous polyposis'
Code System(s)
ICD-10-CM
SNOMED CT
FHIR Element
Condition.code
FamilyMemberHistory.condition.code
Status
Ready
Notes
Blood in Stool
Clinical Focus
Concepts for hematochezia
Inclusions
Melena and hematoschezia
Exclusions
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1032.330
Code System(s)
ICD-10-CM
SNOMED CT
FHIR Element
Condition.code
Observation.code
Questionnaire.item.code
Status
Ready
Notes
#TODO needs clinical validation
BMPR1A variant status
Clinical Focus
Inclusions
Exclusions
Type
Code/Value Set URI
Code System(s)
FHIR Element
Status
#TODO
Notes
Cancers Associated with Hereditary Cancer Syndromes Conferring Increased Risk of Colorectal Cancer
Clinical Focus
Concepts representing conditions for cancers associated with hereditary cancers syndromes that put patients at increased risk for colorectal cancer.
Inclusions
* Cancer of the colon or rectum, uterus, ovary, stomach , small intestine urinary tract (kidney, ureter, bladder), bile ducts, pancreas, or brain)
Exclusions
Type
Value Set
Code/Value Set URI
Code System(s)
ICD-10-CM
SNOMED CT
FHIR Element
FamilyMemberHistory.condition.code
Status
#TODO
Notes
C-RADS category 3
Clinical Focus
CT colonography reporting of polyp, possibly advanced adenoma
Inclusions
Exclusions
Type
Direct Reference Code (local)
Code/Value Set URI
CRADS#C3
Code System(s)
CRADS (local)
FHIR Element
Observation.valueCodeableConcept
Status
Ready
Notes
C-RADS category C0
Clinical Focus
CT colonography reporting of inadequate study and/or awaiting prior comparisons
Inclusions
Exclusions
Type
Direct Reference Code (local)
Code/Value Set URI
CRADS#C0
Code System(s)
CRADS (local)
FHIR Element
Observation.valueCodeableConcept
Status
Ready
Notes
C-RADS category C2
Clinical Focus
CT colonography reporting of intermediate polyp or indeterminate finding (prior to 2023 update)
Inclusions
Exclusions
Type
Direct Reference Code (local)
Code/Value Set URI
CRADS#C2
Code System(s)
CRADS (local)
FHIR Element
Observation.valueCodeableConcept
Status
Ready
Notes
C-RADS category C2a
Clinical Focus
CT colonography reporting of intermediate polyp or indeterminate finding
Inclusions
Exclusions
Type
Direct Reference Code (local)
Code/Value Set URI
CRADS#C2a
Code System(s)
CRADS (local)
FHIR Element
Observation.valueCodeableConcept
Status
Ready
Notes
C-RADS category C4
Clinical Focus
CT colonography reporting of likely malignant colonic mass
Inclusions
Exclusions
Type
Direct Reference Code (local)
Code/Value Set URI
CRADS#C4
Code System(s)
CRADS (local)
FHIR Element
Observation.valueCodeableConcept
Status
Ready
Notes
Colonoscopy
Clinical Focus
Inclusions
Exclusions
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1032.356
Code System(s)
LOINC
FHIR Element
DiagnosticReport.code
Status
Ready
Notes
Colonoscopy Procedure
Clinical Focus
Concepts for a colonoscopy procedure intended for routine screening purposes or follow-up after an abnormal stool test
Inclusions
* Screening
Exclusions
* Diagnostic
* Partial
* Limited
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.464.1003.108.12.1020
Code System(s)
SNOMED CT
CPT
FHIR Element
Procedure.code
Status
Ready
Notes
Colorectal Cancer
Clinical Focus
Concepts for diagnosis of invasive and non-invasive colorectal cancer.
Inclusions
* Non-invasive
* Invasive
* Primary and secondary
Exclusions
None.
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1032.325
Code System(s)
ICD-10-CM
SNOMED CT
FHIR Element
Condition.code
Status
Published (Experimental)
Notes
* Cannot reuse NCQA value set bc it includes codes for history of colon cancer.
Colorectal cancer finding
Clinical Focus
Concepts for a finding of colorectal cancer
Inclusions
Exclusions
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1032.326
Code System(s)
SNOMED CT
FHIR Element
DiagnosticReport.conclusionCode
Observation.valueCodeableConcept
Status
Published (Experimental)
Notes
Same as Colorectal Cancer, but SNOMED CT only.
Colorectal cancer resection
Clinical Focus
Surgery for the resection of colorectal cancer.
Inclusions
* Open and laparoscopic approaches
Exclusions
* endoscopic-only procedures
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.666.5.705
Code System(s)
ICD-10-PCS
SNOMED CT
FHIR Element
Procedure.code
Status
Placeholder
Notes
#TODO replace with subset of procedures for resection or destruction, add rectal procedures
Confirmed Advanced Precancerous Polyp(s) in First-Degree Relative
Clinical Focus
Confirmed advanced polyp (any polyp >= 10 mm, adenoma with tubulovillous or villous histology, or adenoma or serrated lesion (sessile serrated polyp, traditional serrated adenoma) with high-grade dysplasia.
Inclusions
Exclusions
Type
Direct Reference Code (local)
Code/Value Set URI
#PolypsInFirstDegreeRelative
Code System(s)
LOCAL
FHIR Element
Observation.code
Questionnaire.item.code
Status
Placeholder
Notes
Cowden syndrome
Clinical Focus
Diagnosis codes for Cowden syndrome
Inclusions
Exclusions
Type
Direct Reference Code
Code/Value Set URI
code "Cowden Syndrome SNOMED CT": '58037000' from "SNOMED-CT" display 'Cowden syndrome (disorder)'
code "Cowden Syndrome ICD-10-CM": 'Q85.81' from "ICD-10-CM" display 'PTEN hamartoma tumor syndrome'
concept "Cowden Syndrome": {"Cowden Syndrome SNOMED CT", "Cowden Syndrome ICD-10-CM"} display 'Cowden Syndrome'
Code System(s)
ICD-10-CM
SNOMED CT
FHIR Element
Condition.code
FamilyMemberHistory.condition.code
Status
Ready
Notes
#TODO there may be more than 1 ICD-10-CM code for Cowden
Crohn's Disease
Clinical Focus
Concepts identifying conditions indicative of Crohn's disease.
Inclusions
* Active
* In remission
Exclusions
* Crohn's disease without colonic involvement (e.g. Crohn's disease isolated to the small bowel)
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1032.348
Code System(s)
ICD-10-CM
SNOMED CT
FHIR Element
Condition.code
Status
Published (Experimental)
Notes
#TODO need to replace in cervical cancer (value sets originally used have been deprecated)
CT colonography
Clinical Focus
Concepts for a computed tomography colonography intended for routine screening purposes
Inclusions
* Screening
Exclusions
* Diagnostic
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.464.1003.118.11.1097
Code System(s)
LOINC
FHIR Element
DiagnosticReport.code
DocumentReference.type
Status
Published (Experimental)
Notes
CT Colonography Procedure
Clinical Focus
Concepts for a computed tomography colonography intended for routine screening purposes
Inclusions
Exclusions
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.464.1003.108.11.1144
Code System(s)
SNOMED CT
CPT
FHIR Element
Procedure.code
Status
Placeholder
Notes
#TODO replace with grouping value set of SNOMED and CPT value sets.
Familial adenomatous polyposis
Clinical Focus
Diagnosis codes for familial adenomatous polyposis
Inclusions
Exclusions
Type
Direct Reference Code
Code/Value Set URI
code "FAP SNOMED CT": '72900001' from SCT display 'Familial multiple polyposis syndrome (disorder)'
code "FAP ICD-10-CM": 'D13.91' from "ICD-10" display 'Familial adenomatous polyposis'

concept "FAP": {"FAP SNOMED CT", "FAP ICD-10-CM"} display 'Familial adenomatous polyposis'
Code System(s)
ICD-10-CM
SNOMED CT
FHIR Element
Condition.code
FamilyMemberHistory.condition.code
Status
Ready
Notes
Familial Colorectal Cancer Type X
Clinical Focus
Concepts identifying conditions indicative of familial colorectal cancer type X
Inclusions
Exclusions
Type
Direct Reference Code
Code/Value Set URI
code "Familial Colorectal Cancer Type X": '1197359006' from SCT display 'Familial colorectal cancer type X (disorder)'
Code System(s)
ICD-10-CM
SNOMED CT
FHIR Element
Condition.code
FamilyMemberHistory.condition.code
Status
Ready
Notes
No concept in ICD-10-CM
Family History of Colorectal Cancer
Clinical Focus
Concepts identifying family history of colorectal cancer
Inclusions
Exclusions
Family history of hereditary syndromes
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1032.349
Code System(s)
ICD-10-CM
SNOMED CT
FHIR Element
Condition.code
FamilyMemberHistory.condition.code
Status
Published (Experimental)
Notes
Family History of Familial Colorectal Cancer Type X
Clinical Focus
Concepts identifying conitions indicative of a family history of familial colorectal cancer type X
Inclusions
Exclusions
Type
Direct Reference Code
Code/Value Set URI
Code System(s)
LOCAL
FHIR Element
Condition.code
Status
#TODO
Notes
No concepts available in SNOMED CT or ICD-10-CM that are specific to colorectal cancer type X
Family History of Potentially Precancerous Polyps
Clinical Focus
Concepts identifying family history of potentially precancerous polyps
Inclusions
Exclusions
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1032.360
Code System(s)
ICD-10-CM
SNOMED CT
FHIR Element
Condition.code
Status
Published (Experimental)
Notes
No concepts available in SNOMED CT
Genetic mutation associated with increased risk of colorectal cancer
Clinical Focus
Concepts identifying a family history of a variant known to be pathogenic or likely pathogenic and associated with an increased risk of colorectal cancer
Inclusions
Concepts that include mutations in genes associated with:
* Lynch Syndrome
* Familial Adenomatous Polyposis and Attenuated Familial Adenomatous Polyposis
* Peutz-Jeghers Syndrome
* Juvenile Polyposis Syndrome
* Cowden Syndrome
Exclusions
Type
Value Set
Code/Value Set URI
Code System(s)
FHIR Element
Status
#TODO
Notes
First-degree relative
Clinical Focus
Parents, children, siblings
Inclusions
Exclusions
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1032.92
Code System(s)
HL7 RoleCode
FHIR Element
FamilyMemberHistory.relationship
Status
Ready
Notes
Flexible Sigmoidoscopy
Clinical Focus
Concepts for a flexible sigmoidoscopy procedure intended for routine screening purposes
Inclusions
* Screening
Exclusions
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1032.359
Code System(s)
LOINC
FHIR Element
DiagnosticReport
Status
Published (Experimental)
Notes
Flexible Sigmoidoscopy Procedure
Clinical Focus
Concepts for a flexible sigmoidoscopy study
Inclusions
Exclusions
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.464.1003.198.12.1010
Code System(s)
ICD-10-CM
SNOMED CT
CPT
FHIR Element
Procedure.code
Status
Published
Notes
Genetic mutation associated with increased risk of colorectal cancer
Clinical Focus
Inclusions
Exclusions
Type
Code/Value Set URI
Code System(s)
FHIR Element
Status
#TODO
Notes
Genetic variation clinical significance
Clinical Focus
Inclusions
Exclusions
Type
Code/Value Set URI
Code System(s)
FHIR Element
Observation.code
Status
#TODO
Notes
Fecal Occult Blood Test
Clinical Focus
Concepts for tests detecting the presence of blood in feces, such as guaiac fecal occult blood tests and fecal immunochemical test
Inclusions
Exclusions
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.464.1003.198.11.1020
Code System(s)
LOINC
FHIR Element
Observation.code
Status
Ready
Notes
FIT and gFOBT are included in the same value set because LOINC does allow for full distinction of these tests.
Hereditary Syndrome Associated with Colorectal Cancer
Clinical Focus
Concepts
Inclusions
Exclusions
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1032.342
Code System(s)
SNOMED CT
FHIR Element
Condition.code
Status
Published (Experimental)
Notes
No concepts granualr enough for most syndromes in ICD-10-CM.
History of Colorectal Cancer
Clinical Focus
Concepts for history of colorectal cancer
Inclusions
* Non-invasive
* Invasive
* Primary and secondary
* In remission
Exclusions
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1032.349
Code System(s)
ICD-10-CM
SNOMED CT
FHIR Element
Condition.code
Status
Published (Experimental)
Notes
Inconclusive
Clinical Focus
Concepts for an inconclusive finding.
Inclusions
Exclusions
None.
Type
Direct Reference Code
Code/Value Set URI
code "Inconclusive": "419984006" from "SNOMED-CT" display 'Inconclusive (qualifier value)'
Code System(s)
SNOMED CT
FHIR Element
Observation.valueCodeableConcept
Status
#TODO
Notes
Indeterminate Colitis
Clinical Focus
Concepts identifying conditions indicative of Indeterminate Colitis
Inclusions
Exclusions
Type
TBD
Code/Value Set URI
Code System(s)
ICD-10-CM
SNOMED CT
FHIR Element
Condition.code
Status
#TODO
Notes
Invalid
Clinical Focus
Concepts for an invalid finding.
Inclusions
Exclusions
None.
Type
Direct Reference Code
Code/Value Set URI
code "Invalid": "455371000124106" from "SNOMED-CT" display 'Invalid result (qualifier value)'
Code System(s)
SNOMED CT
FHIR Element
Observation.valueCodeableConcept
Status
Ready
Notes
Iron-deficiency Anemia without Specified Cause
Clinical Focus
Concepts for iron-deficiency anemia without known cause.
Inclusions
Anemia due to iron deficiency
Exclusions
Anemias not associated with iron deficiency.
Iron-deficiency anemia due to inadequate dietary intake, iron metabolism deficiency, hereditary condition, or pregnancy.
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1032.332
Code System(s)
ICD-10-CM
SNOMED CT
FHIR Element
Condition.code
Status
Published (Experimental)
Notes
#TODO needs validation
Juvenile polyposis syndrome
Clinical Focus
Diagnosis codes for juvenile polyposis syndrome
Inclusions
Exclusions
Type
Direct Reference Code
Code/Value Set URI
code "Juvenile polyposis syndrome": '9273005' from SCT display 'Juvenile polyposis syndrome (disorder)'
Code System(s)
ICD-10-CM
SNOMED CT
FHIR Element
Status
Ready
Notes
No concept available in ICD-10-CM
Likely Pathogenic
Clinical Focus
Inclusions
Exclusions
Type
Code/Value Set URI
Code System(s)
FHIR Element
Status
#TODO
Notes
Lynch syndrome
Clinical Focus
Diagnosis codes for Lynch syndrome
Inclusions
Exclusions
Type
Direct Reference Code
Code/Value Set URI
code "Lynch Syndrome": ' 716318002 ' from "SCT" display 'Lynch syndrome (disorder)'
Code System(s)
ICD-10-CM
SNOMED CT
FHIR Element
Status
Ready
Notes
No concept available in ICD-10-CM
Lynch-syndrome associated variant status
Clinical Focus
Inclusions
Exclusions
Type
Code/Value Set URI
Code System(s)
FHIR Element
Status
#TODO
Notes
Microscopic Colitis
Clinical Focus
Concepts identifying conditions indicative of Microscopic Colitis
Inclusions
Exclusions
Type
TBD
Code/Value Set URI
Code System(s)
ICD-10-CM
SNOMED CT
FHIR Element
Condition.code
Status
#TODO
Notes
MUTYH-associated polyposis
Clinical Focus
Diagnosis codes for MUTYH-associated polyposis
Inclusions
Exclusions
Type
Direct Reference Code
Code/Value Set URI
code: "MAP SNOMED CT": '423471004' from SCT display 'MYH-associated polyposis (disorder)'
Code System(s)
ICD-10-CM
SNOMED CT
FHIR Element
Status
Ready
Notes
No concept in ICD-10-CM
MUYTH variant status
Clinical Focus
Inclusions
Exclusions
Type
Code/Value Set URI
Code System(s)
FHIR Element
Status
#TODO
Notes
Non-bleeding colorectal symptoms
Clinical Focus
Concepts for non-bleeding signs and symptoms often associated with colorectal cancer.
Inclusions
Diarrhea, constipation, tenesmus, abdominal pain or cramping, fatigue or weakness, unintended or unexplained weight loss, change in bowel habits or stool shape.
Exclusions
None.
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1032.336
Code System(s)
ICD-10-CM
SNOMED CT
FHIR Element
Condition.code
Observation.codeableConcept
Status
Published (Experimental)
Notes
#TODO Include upper abdominal pain? Consider abdominal tenderness?
#TODO needs validation
Number of affected relatives
Clinical Focus
Number of first-degree relatives
Inclusions
Exclusions
Type
Direct Reference Code
Code/Value Set URI
code "Number of affected family members": "104899-0" from "LOINC" display 'Number of affected family members'
Code System(s)
LOINC
FHIR Element
Observation.code
Questionnaire.item.code
Status
Ready
Notes
Pathogenic
Clinical Focus
Inclusions
Exclusions
Type
Code/Value Set URI
Code System(s)
FHIR Element
Status
#TODO
Notes
Peutz-Jegher syndrome
Clinical Focus
Diagnosis codes for Peutz-Jegher syndrome
Inclusions
Exclusions
Type
Direct Reference Code
Code/Value Set URI
code "Peutz-Jegher syndrome": '54411001' from SCT display 'Peutz-Jeghers syndrome (disorder)'
Code System(s)
ICD-10-CM
SNOMED CT
FHIR Element
Status
Ready
Notes
Concept in ICD-10-CM is not sufficiently specific
Positive
Clinical Focus
Concepts for a positive finding.
Inclusions
Exclusions
None.
Type
Direct Reference Code
Code/Value Set URI
code "Positive": "10828004" from "SNOMED-CT" display 'Positive (qualifier value)'
Code System(s)
SNOMED CT
FHIR Element
Status
Ready
Notes
Potentially Precancerous Polyp(s) Condition
Clinical Focus
Concepts for conditions indicating current or past potentially precancerous polyps
Inclusions
Exclusions
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1032.355
Code System(s)
ICD-10-CM
SNOMED CT
FHIR Element
Condition.code
FamilyMemberHistory.condition.code
Status
Published (Experimental)
Notes
Potentially Precancerous Polyp Finding(s)
Clinical Focus
Concepts for serrated polyps, adenomatous polyps, traditional serrated adenomas and hyperplastic polyps (if >=10 mm)
Inclusions
Exclusions
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1032.353
Code System(s)
SNOMED CT
FHIR Element
Observation.valueCodeableConcept
QuestionnaireResponse.item.answer.valueCoding.code
Status
Published (Experimental)
Notes
SNOMED CT value set for Potentially Precancerous Polyp Condition
Primary Sclerosing Cholangitis
Clinical Focus
Concepts identifying conditions indicative of Primary Sclerosing Cholangitis
Inclusions
Exclusions
Type
TBD
Code/Value Set URI
Code System(s)
ICD-10-CM
SNOMED CT
FHIR Element
Condition.code
Status
#TODO
Notes
PTEN variant status
Clinical Focus
Inclusions
Exclusions
Type
Code/Value Set URI
Code System(s)
FHIR Element
Status
Notes
Recommended follow-up interval
Clinical Focus
Inclusions
Exclusions
Type
Direct Reference Code
Code/Value Set URI
code "Follow-up Plan": '470191000124102' from "SNOMED-CT" display 'Colorectal cancer screening follow-up planning (procedure)'
Code System(s)
SNOMED CT
FHIR Element
Observation.code
Status
Ready
Notes
#TODO consider LOINC code request
Second-degree relative
Clinical Focus
Inclusions
Exclusions
Type
Code/Value Set URI
Code System(s)
FHIR Element
Status
#TODO
Notes
Serrated polyposis syndrome
Clinical Focus
Diagnosis codes for serrated polyposis syndrome
Inclusions
Exclusions
Type
Direct Reference Code
Code/Value Set URI
code "Serrated polyposis syndrome": '763536006' from SCT display 'Hyperplastic polyposis syndrome (disorder)'
Code System(s)
ICD-10-CM
SNOMED CT
FHIR Element
Status
Ready
Notes
No concept in ICD-10-CM
SMAD4 variant status
Clinical Focus
Inclusions
Exclusions
Type
Code/Value Set URI
Code System(s)
FHIR Element
Status
#TODO
Notes
Stool DNA-FIT test
Clinical Focus
Concepts for a stool DNA-FIT test intended for routine screening purposes
Inclusions
Exclusions
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.464.1003.108.11.1145
Code System(s)
LOINC
FHIR Element
Status
Ready
Notes
STK variant status
Clinical Focus
Inclusions
Exclusions
Type
Code/Value Set URI
Code System(s)
FHIR Element
Status
#TODO
Notes
Total Colectomy
Clinical Focus
Surgical procedure of removing the entire colon
Inclusions
Exclusions
* partial
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.464.1003.198.12.1019
Code System(s)
CPT
ICD-10-PCS
SNOMED CT
FHIR Element
Procedure.code
Status
Ready
Notes
* Reused from NCQA eCQMs
Complete Colonoscopy
Clinical Focus
Complete colonoscopy to cecum, with photo documentation of cecal landmarks, such as the appendiceal orifice, terminal ileum, or ileocecal valve
Inclusions
Exclusions
Type
TBD
Code/Value Set URI
Code System(s)
SNOMED CT
FHIR Element
Observation.valueCodeableConcept
Status
#TODO
Notes
Ulcerative Colitis
Clinical Focus
Concepts identifying conditions indicative of ulcerative colitis.
Inclusions
* Chronic
* Acute or exacerbation
* Complications documented as due to UC
* Mild, moderate or severe
Exclusions
* Ulcerative Colitis in remission
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1078.879
Code System(s)
ICD-10-CM
SNOMED CT
FHIR Element
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1032.345
Status
Published (Experimental)
Notes
Hospice Intervention
Clinical Focus
Codes from HEDIS measure denominator exclusions
Inclusions
Exclusions
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.464.1003.1003
Code System(s)
FHIR Element
Encounter.code
Status
Ready
Notes
Hospice Encounter
Clinical Focus
The purpose of this value set is to represent concepts for encounters for hospice care services.
Inclusions
Exclusions
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.464.1003.1003
Code System(s)
HCPCS
SNOMED CT
FHIR Element
Encounter.code
Status
Ready
Notes
* Reused from NCQA eCQMs
Palliative Care Diagnosis
Clinical Focus
The purpose of this value set is to represent concepts that indicate a patient is receiving palliative care or services.
Inclusions
Includes concepts that represent palliative care or services.
Exclusions
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.464.1003.1167
Code System(s)
ICD-10-CM
SNOMED CT
FHIR Element
Condition.code
Status
Ready
Notes
Reused from NCQA eCQMs
Palliative Care Intervention
Clinical Focus
Codes from HEDIS measure denominator exclusions
Inclusions
Exclusions
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.464.1003.198.12.1135
Code System(s)
FHIR Element
Procedure.code
Status
Ready
Notes
Palliative Care Encounter
Clinical Focus
The purpose of this value set is to represent concepts for encounters for palliative care services.
Inclusions
Exclusions
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.464.1003.101.12.1090
Code System(s)
SNOMED CT
HCPCS
FHIR Element
Encounter.code
Status
Ready
Notes
* Reused from NCQA eCQMs
Frailty Encounter
Clinical Focus
Codes from HEDIS measure denominator exclusions
Inclusions
Exclusions
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.464.1003.101.12.1088
Code System(s)
CPT
HCPCS
FHIR Element
Encounter.code
Status
Ready
Notes
* Reused from NCQA eCQMs
Frailty Symptoms
Clinical Focus
Codes from HEDIS measure denominator exclusions
Inclusions
Exclusions
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.464.1003.113.12.1075
Code System(s)
FHIR Element
Condition.code
Status
Ready
Notes
Frailty Device
Clinical Focus
Codes from HEDIS measure denominator exclusions
Inclusions
Exclusions
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.464.1003.118.12.1300
Code System(s)
SNOMED CT
FHIR Element
Device.code
Status
Ready
Notes
Frailty Diagnosis
Clinical Focus
The purpose of this value set is to represent concepts for a diagnosis of potential indicators of frailty.
Inclusions
Exclusions
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.464.1003.113.12.1074
Code System(s)
ICD-10-CM
SNOMED CT
FHIR Element
Condition.code
Status
Ready
Notes
Dementia Medications
Clinical Focus
The purpose of this value set is to represent concepts for dementia medications.
Inclusions
Exclusions
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.464.1003.196.11.1517
Code System(s)
RxNorm
FHIR Element
Status
Ready
Notes
* Reused from NCQA eCQMs. The eCQMs use this value set to identify active meds.
Advanced Illness
Clinical Focus
Codes from HEDIS measure denominator exclusions
Inclusions
Exclusions
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.464.1003.110.12.1082
Code System(s)
ICD-10-CM
SNOMED CT
FHIR Element
Condition.code
Status
Ready
Notes
Hospice Diagnosis
Clinical Focus
Codes from HEDIS measure denominator exclusions
Inclusions
Exclusions
Type
Value Set
Code/Value Set URI
http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.464.1003.1165
Code System(s)
ICD-10-CM
SNOMED CT
FHIR Element
Condition.code
Status
Ready
Notes