GenomeX Data Exchange FHIR IG
0.2.0 - draft

GenomeX Data Exchange FHIR IG, published by MITRE. This guide is not an authorized publication; it is the continuous build for version 0.2.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/CodeX-HL7-FHIR-Accelerator/GenomeX-DataExchange/ and changes regularly. See the Directory of published versions

Table of Contents

.. 0 Table of Contents
... 1 GenomeX Data Exchange
... 2 Overview
... 3 Report Content (Payload)
... 4 Transport Messaging
... 5 Somatic Test Reporting
... 6 Germline Oncology Test Reporting
... 7 Germline Prenatal Test Reporting
... 8 Biomarker Test Reporting
... 9 Extended Example
... 10 Artifacts Summary
.... 10.1 GDX Diagnostic Implication
.... 10.2 GDX Lab Organization
.... 10.3 GDX Patient
.... 10.4 GDX Specimen
.... 10.5 GDX Therapeutic Implication
.... 10.6 GDX Variant
.... 10.7 Genomic Bundle Profile
.... 10.8 Genomic Report Profile
.... 10.9 Genomic Service Request
.... 10.10 ct-xG-bundle
.... 10.11 ct-xT-bundle
.... 10.12 HereditaryCancerTestingBundleCollectionNegative
.... 10.13 HereditaryCancerTestingDiagnosticReportNegative
.... 10.14 HereditaryCancerTestingGenomicStudy
.... 10.15 HereditaryCancerTestingGenomicStudyAnalysis
.... 10.16 HereditaryCancerTestingGenRiskAssessNegative
.... 10.17 HereditaryCancerTestingOverInterNegative
.... 10.18 HereditaryCancerTestingQuestionnaireResponseNegative
.... 10.19 HereditaryCancerTestingRecommendedFollowupNegative
.... 10.20 HereditaryCancerTestingServiceRequest
.... 10.21 HereditaryCancerTestingVarNegative
.... 10.22 Organization
.... 10.23 PatientFemale
.... 10.24 PatientMale
.... 10.25 PractitionerLabDirector
.... 10.26 PractitionerOrderingProvider
.... 10.27 PractitionerPathologist
.... 10.28 PrenatalCollectionBundlePartnered
.... 10.29 PrenatalCollectionBundleSingle
.... 10.30 PrenatalDiagImpAlpha1ADPatientMale
.... 10.31 PrenatalDiagImpAutosomalRecessiveSAoCSPatientMale
.... 10.32 PrenatalDiagImpFactorXiDeficiencyPatientFemale
.... 10.33 PrenatalDiagImpFactorXiDeficiencyPatientMale
.... 10.34 PrenatalDiagImpFamilialHyperinsulinismPatientMale
.... 10.35 PrenatalDiagImpFragileXSyndromePatientFemale
.... 10.36 PrenatalDiagImpGlycogenStorageDiseasePatientFemale
.... 10.37 PrenatalDiagImpGlycogenStorageDiseasePatientMale
.... 10.38 PrenatalDiagImpHereditaryHemochromatoPatientFemale
.... 10.39 PrenatalDiagImpHereditaryHemochromatoPatientMale
.... 10.40 PrenatalDiagImpPrimaryHyperoxaluriaPatientFemale
.... 10.41 PrenatalDiagImpPrimaryHyperoxaluriaPatientMale
.... 10.42 PrenatalGenomicReportCouple
.... 10.43 PrenatalGenomicReportPatientFemale
.... 10.44 PrenatalGenomicReportPatientMale
.... 10.45 PrenatalGenomicStudyAnalysisAlpha1ADPatientMale
.... 10.46 PrenatalGenomicStudyAnalysisAutosomalRecessiveSAoCSPatientMale
.... 10.47 PrenatalGenomicStudyAnalysisFactorXiDeficiencyCouple
.... 10.48 PrenatalGenomicStudyAnalysisFactorXiDeficiencyPatientFemale
.... 10.49 PrenatalGenomicStudyAnalysisFactorXiDeficiencyPatientMale
.... 10.50 PrenatalGenomicStudyAnalysisFamilialHyperinsulinismPatientMale
.... 10.51 PrenatalGenomicStudyAnalysisFragileXSyndromePatientFemale
.... 10.52 PrenatalGenomicStudyAnalysisGlycogenStorageDiseaseCouple
.... 10.53 PrenatalGenomicStudyAnalysisGlycogenStorageDiseasePatientFemale
.... 10.54 PrenatalGenomicStudyAnalysisGlycogenStorageDiseasePatientMale
.... 10.55 PrenatalGenomicStudyAnalysisHereditaryHemochromatoCouple
.... 10.56 PrenatalGenomicStudyAnalysisHereditaryHemochromatoPatientFemale
.... 10.57 PrenatalGenomicStudyAnalysisHereditaryHemochromatoPatientMale
.... 10.58 PrenatalGenomicStudyAnalysisPrimaryHyperoxaluriaCouple
.... 10.59 PrenatalGenomicStudyAnalysisPrimaryHyperoxaluriaPatientFemale
.... 10.60 PrenatalGenomicStudyAnalysisPrimaryHyperoxaluriaPatientMale
.... 10.61 PrenatalGenomicStudyCouple
.... 10.62 PrenatalGenomicStudyPatientFemale
.... 10.63 PrenatalGenomicStudyPatientMale
.... 10.64 PrenatalGroupPatientFemaleandPatientMale
.... 10.65 PrenatalNegativeReprRiskCouple
.... 10.66 PrenatalNegativeReprRiskPatientMale
.... 10.67 PrenatalRecommendedFollowup1PatientFemale
.... 10.68 PrenatalRecommendedFollowup1PatientMale
.... 10.69 PrenatalRecommendedFollowup2PatientMale
.... 10.70 PrenatalRelatedPersonPatientFemale
.... 10.71 PrenatalRelatedPersonPatientMale
.... 10.72 PrenatalReprDiagImpAlpha1ADPatientMale
.... 10.73 PrenatalReprDiagImpAutosomalRecessiveSAoCSPatientMale
.... 10.74 PrenatalReprDiagImpFactorXiDeficiencyCouple
.... 10.75 PrenatalReprDiagImpFamilialHyperinsulinismPatientMale
.... 10.76 PrenatalReprDiagImpFragileXSyndromeCouple
.... 10.77 PrenatalReprDiagImpHereditaryHemochromatoCouple
.... 10.78 PrenatalReproductivePostRiskAlpha1ADPatientMale
.... 10.79 PrenatalReproductivePostRiskAutosomalRecessiveSAoCSPatientMale
.... 10.80 PrenatalReproductivePostRiskFactorXiDeficiencyCouple
.... 10.81 PrenatalReproductivePostRiskFamilialHyperinsulinismPatientMale
.... 10.82 PrenatalReproductivePreRiskAlpha1ADPatientMale
.... 10.83 PrenatalReproductivePreRiskAutosomalRecessiveSAoCSPatientMale
.... 10.84 PrenatalReproductivePreRiskFactorXiDeficiencyCouple
.... 10.85 PrenatalReproductivePreRiskFamilialHyperinsulinismPatientMale
.... 10.86 PrenatalResidualRiskAlpha1ADPatientMale
.... 10.87 PrenatalResidualRiskAutosomalRecessiveSAoCSPatientMale
.... 10.88 PrenatalResidualRiskFactorXiDeficiencyPatientFemale
.... 10.89 PrenatalResidualRiskFactorXiDeficiencyPatientMale
.... 10.90 PrenatalResidualRiskFamilialHyperinsulinismPatientMale
.... 10.91 PrenatalResidualRiskGlycogenStorageDiseasePatientFemale
.... 10.92 PrenatalResidualRiskGlycogenStorageDiseasePatientMale
.... 10.93 PrenatalResidualRiskPrimaryHyperoxaluriaPatientFemale
.... 10.94 PrenatalResidualRiskPrimaryHyperoxaluriaPatientMale
.... 10.95 PrenatalServiceRequestCouple
.... 10.96 PrenatalServiceRequestPatientMale
.... 10.97 PrenatalSpecimenPatientFemale
.... 10.98 PrenatalSpecimenPatientMale
.... 10.99 PrenatalVariant1CNVFactorXiDeficiencyPatientMale
.... 10.100 PrenatalVariant1FragileXSyndromePatientFemale
.... 10.101 PrenatalVariant1SNPAlpha1ADPatientMale
.... 10.102 PrenatalVariant1SNPHereditaryHemochromatoPatientFemale
.... 10.103 PrenatalVariant1SNPHereditaryHemochromatoPatientMale
.... 10.104 PrenatalVariant2FragileXSyndromePatientFemale
.... 10.105 PrenatalVariant2SNPHereditaryHemochromatoPatientFemale
.... 10.106 PrenatalVariantAutosomalRecessiveSAoCSPatientMale
.... 10.107 PrenatalVariantFactorXiDeficiencyPatientFemale
.... 10.108 PrenatalVariantFamilialHyperinsulinismPatientMale
.... 10.109 PrenatalVariantGlycogenStorageDiseaseTypePatientFemale
.... 10.110 PrenatalVariantGlycogenStorageDiseaseTypePatientMale
.... 10.111 PrenatalVariantPrimaryHyperoxaluriaPatientFemale
.... 10.112 PrenatalVariantPrimaryHyperoxaluriaPatientMale
.... 10.113 SpecimenBloodFemale
.... 10.114 SpecimenTissueMale