HLA Reporting Implementation Guide
0.0.1 - Draft

HLA Reporting Implementation Guide - Local Development build (v0.0.1). See the Directory of published versions

Resource Profile: HLASummaryReport

HLA Summary Report profile of genomics report

The official URL for this profile is: 

http://fhir.nmdp.org/ig/hla-reporting/StructureDefinition/hla-summary-report

Formal Views of Profile Content

Description of Profiles, Differentials, Snapshots and how the different presentations work.

This structure is derived from GenomicsReport

Summary

Mandatory: 4 elements
Fixed Value: 2 elements
Prohibited: 16 elements

Structures

This structure refers to these other structures:

Extensions

This structure refers to these extensions:

This structure is derived from GenomicsReport

NameFlagsCard.TypeDescription & Constraintsdoco
.. DiagnosticReport 0..*GenomicsReportGenomics Report
... extension 1..*ExtensionExtension
... extension:RecommendedAction 0..0
... hla-genotype-summary 1..1CodeableConceptExtension
URL: http://fhir.nmdp.org/ig/hla-reporting/StructureDefinition/hla-genotype-summary
.... coding 2..*CodingCode defined by a terminology system
.... coding:HLAGeneGroup 1..1CodingCode defined by a terminology system
..... system 1..1uriIdentity of the terminology system
Fixed Value: http://www.genenames.org/genegroup
..... code 1..1codeSymbol in syntax defined by the system
Fixed Value: 588
... result:gen-grouper 0..0
... result:overall 0..0
... result:inh-dis-path 0..0
... result:som-diagnostic 0..0
... result:som-prognostic 0..0
... result:som-predictive 0..0
... result:med-metabolism 0..0
... result:med-efficacy 0..0
... result:med-transporter 0..0
... result:med-high-risk 0..0
... result:genotype 0..0
... result:haplotype 0..0
... result:variant 0..0
... result:region-studied 0..0
... result:hla-genotype 0..*Reference(HLA Genotype Observation)Observations
... result:hla-allele 0..*Reference(HLA Allele Observation)Observations
... media 0..0

doco Documentation for this format
NameFlagsCard.TypeDescription & Constraintsdoco
.. DiagnosticReport I0..*GenomicsReportGenomics Report
... id Σ0..1stringLogical id of this artifact
... meta ΣI0..1MetaMetadata about the resource
... implicitRules ?!ΣI0..1uriA set of rules under which this content was created
... language I0..1codeLanguage of the resource content
Binding: CommonLanguages (preferred)
Max Binding: AllLanguages
... text I0..1NarrativeText summary of the resource, for human interpretation
... contained 0..*ResourceContained, inline Resources
... extension I1..*ExtensionExtension
Slice: Unordered, Open by value:url
... RelatedArtifact I0..*RelatedArtifactCitations and supporting info
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/RelatedArtifact
... SupportingInfo I0..*Reference()Other resources that support report
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/SupportingInfo
.... id 0..1stringUnique id for inter-element referencing
.... extension I0..*ExtensionAdditional content defined by implementations
Slice: Unordered, Open by value:url
.... url 1..1uri"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/SupportingInfo"
.... value[x]:valueReference I1..1Reference(FamilyMemberHistory | RiskAssessment | Observation | DocumentReference)Family history with relevance to report
... diagnosticReport-risk I0..*Reference(RiskAssessment)Risk
URL: http://hl7.org/fhir/StructureDefinition/diagnosticReport-risk
.... id 0..1stringUnique id for inter-element referencing
.... extension I0..0
.... url 1..1uri"http://hl7.org/fhir/StructureDefinition/diagnosticReport-risk"
.... value[x] I1..1(Slice Definition)Value of extension
Slice: Unordered, Closed by type:$this
..... value[x]:valueReference I1..1Reference(RiskAssessment)Value of extension
... hla-genotype-summary I1..1CodeableConceptOptional Extensions Element
URL: http://fhir.nmdp.org/ig/hla-reporting/StructureDefinition/hla-genotype-summary
... modifierExtension ?!I0..*ExtensionExtensions that cannot be ignored
... identifier ΣI0..1IdentifierBusiness identifier for report
... basedOn I0..*Reference(ServiceRequest)What was requested
... status ?!ΣI1..1coderegistered | partial | preliminary | final +
Binding: DiagnosticReportStatus (required)
... category ΣI0..*CodeableConceptService category
Binding: DiagnosticServiceSectionCodes (example)

Required Pattern: At least the following
.... id0..1stringUnique id for inter-element referencing
.... extension0..*ExtensionAdditional content defined by implementations
.... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
..... id0..1stringUnique id for inter-element referencing
..... extension0..*ExtensionAdditional content defined by implementations
..... system1..1uriIdentity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/v2-0074
..... version0..1stringVersion of the system - if relevant
..... code1..1codeSymbol in syntax defined by the system
Fixed Value: GE
..... display0..1stringRepresentation defined by the system
..... userSelected0..1booleanIf this coding was chosen directly by the user
.... text0..1stringPlain text representation of the concept
... code ΣI1..1CodeableConceptName/Code for this diagnostic report
Binding: LOINCDiagnosticReportCodes (preferred)
.... id 0..1stringUnique id for inter-element referencing
.... extension I0..*ExtensionAdditional content defined by implementations
Slice: Unordered, Open by value:url
.... coding ΣI2..*(Slice Definition)Code defined by a terminology system
Slice: Unordered, Open by value:system, value:code
..... coding:code ΣI1..1CodingCode defined by a terminology system
...... id 0..1stringUnique id for inter-element referencing
...... extension I0..*ExtensionAdditional content defined by implementations
Slice: Unordered, Open by value:url
...... system ΣI1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... version ΣI0..1stringVersion of the system - if relevant
...... code ΣI1..1codeMaster HL7 genetic variant reporting panel
Fixed Value: 81247-9
...... display ΣI0..1stringRepresentation defined by the system
...... userSelected ΣI0..1booleanIf this coding was chosen directly by the user
..... coding:HLAGeneGroup ΣI1..1CodingCode defined by a terminology system
...... id 0..1stringUnique id for inter-element referencing
...... extension I0..*ExtensionAdditional content defined by implementations
Slice: Unordered, Open by value:url
...... system ΣI1..1uriIdentity of the terminology system
Fixed Value: http://www.genenames.org/genegroup
...... version ΣI0..1stringVersion of the system - if relevant
...... code ΣI1..1codeSymbol in syntax defined by the system
Fixed Value: 588
...... display ΣI0..1stringRepresentation defined by the system
...... userSelected ΣI0..1booleanIf this coding was chosen directly by the user
.... text ΣI0..1stringPlain text representation of the concept
... subject ΣI0..1Reference(Patient | Group | Location)The subject of the report - usually, but not always, the patient
... encounter ΣI0..1Reference(Encounter)Health care event when test ordered
... effective[x] ΣI0..1(Slice Definition)Clinically relevant time/time-period for report
Slice: Unordered, Closed by type:$this
.... effective[x]:effectiveDateTime ΣI0..1dateTimeClinically relevant time/time-period for report
... issued ΣI0..1instantDateTime this version was made
... performer ΣI0..1Reference(Practitioner | PractitionerRole | Organization | CareTeam)Responsible Diagnostic Service
... resultsInterpreter ΣI0..*Reference(Practitioner | PractitionerRole | Organization | CareTeam)Primary result interpreter
... specimen I0..*Reference(Specimen)Specimens this report is based on
... result I1..*(Slice Definition)Observations
Slice: Unordered, Open by pattern:resolve().code
.... result:sequence-phase-relation I0..*Reference(Sequence Phase Reltionship)Observations
.... result:hla-genotype I0..*Reference(HLA Genotype Observation)Observations
.... result:hla-allele I0..*Reference(HLA Allele Observation)Observations
... conclusion I0..1stringClinical conclusion (interpretation) of test results
... conclusionCode I0..*CodeableConceptCodes for the clinical conclusion of test results
Binding: SNOMEDCTClinicalFindings (example)
... presentedForm I0..*AttachmentEntire report as issued

doco Documentation for this format

This structure is derived from GenomicsReport

Summary

Mandatory: 4 elements
Fixed Value: 2 elements
Prohibited: 16 elements

Structures

This structure refers to these other structures:

Extensions

This structure refers to these extensions:

Differential View

This structure is derived from GenomicsReport

NameFlagsCard.TypeDescription & Constraintsdoco
.. DiagnosticReport 0..*GenomicsReportGenomics Report
... extension 1..*ExtensionExtension
... extension:RecommendedAction 0..0
... hla-genotype-summary 1..1CodeableConceptExtension
URL: http://fhir.nmdp.org/ig/hla-reporting/StructureDefinition/hla-genotype-summary
.... coding 2..*CodingCode defined by a terminology system
.... coding:HLAGeneGroup 1..1CodingCode defined by a terminology system
..... system 1..1uriIdentity of the terminology system
Fixed Value: http://www.genenames.org/genegroup
..... code 1..1codeSymbol in syntax defined by the system
Fixed Value: 588
... result:gen-grouper 0..0
... result:overall 0..0
... result:inh-dis-path 0..0
... result:som-diagnostic 0..0
... result:som-prognostic 0..0
... result:som-predictive 0..0
... result:med-metabolism 0..0
... result:med-efficacy 0..0
... result:med-transporter 0..0
... result:med-high-risk 0..0
... result:genotype 0..0
... result:haplotype 0..0
... result:variant 0..0
... result:region-studied 0..0
... result:hla-genotype 0..*Reference(HLA Genotype Observation)Observations
... result:hla-allele 0..*Reference(HLA Allele Observation)Observations
... media 0..0

doco Documentation for this format

Snapshot View

NameFlagsCard.TypeDescription & Constraintsdoco
.. DiagnosticReport I0..*GenomicsReportGenomics Report
... id Σ0..1stringLogical id of this artifact
... meta ΣI0..1MetaMetadata about the resource
... implicitRules ?!ΣI0..1uriA set of rules under which this content was created
... language I0..1codeLanguage of the resource content
Binding: CommonLanguages (preferred)
Max Binding: AllLanguages
... text I0..1NarrativeText summary of the resource, for human interpretation
... contained 0..*ResourceContained, inline Resources
... extension I1..*ExtensionExtension
Slice: Unordered, Open by value:url
... RelatedArtifact I0..*RelatedArtifactCitations and supporting info
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/RelatedArtifact
... SupportingInfo I0..*Reference()Other resources that support report
URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/SupportingInfo
.... id 0..1stringUnique id for inter-element referencing
.... extension I0..*ExtensionAdditional content defined by implementations
Slice: Unordered, Open by value:url
.... url 1..1uri"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/SupportingInfo"
.... value[x]:valueReference I1..1Reference(FamilyMemberHistory | RiskAssessment | Observation | DocumentReference)Family history with relevance to report
... diagnosticReport-risk I0..*Reference(RiskAssessment)Risk
URL: http://hl7.org/fhir/StructureDefinition/diagnosticReport-risk
.... id 0..1stringUnique id for inter-element referencing
.... extension I0..0
.... url 1..1uri"http://hl7.org/fhir/StructureDefinition/diagnosticReport-risk"
.... value[x] I1..1(Slice Definition)Value of extension
Slice: Unordered, Closed by type:$this
..... value[x]:valueReference I1..1Reference(RiskAssessment)Value of extension
... hla-genotype-summary I1..1CodeableConceptOptional Extensions Element
URL: http://fhir.nmdp.org/ig/hla-reporting/StructureDefinition/hla-genotype-summary
... modifierExtension ?!I0..*ExtensionExtensions that cannot be ignored
... identifier ΣI0..1IdentifierBusiness identifier for report
... basedOn I0..*Reference(ServiceRequest)What was requested
... status ?!ΣI1..1coderegistered | partial | preliminary | final +
Binding: DiagnosticReportStatus (required)
... category ΣI0..*CodeableConceptService category
Binding: DiagnosticServiceSectionCodes (example)

Required Pattern: At least the following
.... id0..1stringUnique id for inter-element referencing
.... extension0..*ExtensionAdditional content defined by implementations
.... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
..... id0..1stringUnique id for inter-element referencing
..... extension0..*ExtensionAdditional content defined by implementations
..... system1..1uriIdentity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/v2-0074
..... version0..1stringVersion of the system - if relevant
..... code1..1codeSymbol in syntax defined by the system
Fixed Value: GE
..... display0..1stringRepresentation defined by the system
..... userSelected0..1booleanIf this coding was chosen directly by the user
.... text0..1stringPlain text representation of the concept
... code ΣI1..1CodeableConceptName/Code for this diagnostic report
Binding: LOINCDiagnosticReportCodes (preferred)
.... id 0..1stringUnique id for inter-element referencing
.... extension I0..*ExtensionAdditional content defined by implementations
Slice: Unordered, Open by value:url
.... coding ΣI2..*(Slice Definition)Code defined by a terminology system
Slice: Unordered, Open by value:system, value:code
..... coding:code ΣI1..1CodingCode defined by a terminology system
...... id 0..1stringUnique id for inter-element referencing
...... extension I0..*ExtensionAdditional content defined by implementations
Slice: Unordered, Open by value:url
...... system ΣI1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... version ΣI0..1stringVersion of the system - if relevant
...... code ΣI1..1codeMaster HL7 genetic variant reporting panel
Fixed Value: 81247-9
...... display ΣI0..1stringRepresentation defined by the system
...... userSelected ΣI0..1booleanIf this coding was chosen directly by the user
..... coding:HLAGeneGroup ΣI1..1CodingCode defined by a terminology system
...... id 0..1stringUnique id for inter-element referencing
...... extension I0..*ExtensionAdditional content defined by implementations
Slice: Unordered, Open by value:url
...... system ΣI1..1uriIdentity of the terminology system
Fixed Value: http://www.genenames.org/genegroup
...... version ΣI0..1stringVersion of the system - if relevant
...... code ΣI1..1codeSymbol in syntax defined by the system
Fixed Value: 588
...... display ΣI0..1stringRepresentation defined by the system
...... userSelected ΣI0..1booleanIf this coding was chosen directly by the user
.... text ΣI0..1stringPlain text representation of the concept
... subject ΣI0..1Reference(Patient | Group | Location)The subject of the report - usually, but not always, the patient
... encounter ΣI0..1Reference(Encounter)Health care event when test ordered
... effective[x] ΣI0..1(Slice Definition)Clinically relevant time/time-period for report
Slice: Unordered, Closed by type:$this
.... effective[x]:effectiveDateTime ΣI0..1dateTimeClinically relevant time/time-period for report
... issued ΣI0..1instantDateTime this version was made
... performer ΣI0..1Reference(Practitioner | PractitionerRole | Organization | CareTeam)Responsible Diagnostic Service
... resultsInterpreter ΣI0..*Reference(Practitioner | PractitionerRole | Organization | CareTeam)Primary result interpreter
... specimen I0..*Reference(Specimen)Specimens this report is based on
... result I1..*(Slice Definition)Observations
Slice: Unordered, Open by pattern:resolve().code
.... result:sequence-phase-relation I0..*Reference(Sequence Phase Reltionship)Observations
.... result:hla-genotype I0..*Reference(HLA Genotype Observation)Observations
.... result:hla-allele I0..*Reference(HLA Allele Observation)Observations
... conclusion I0..1stringClinical conclusion (interpretation) of test results
... conclusionCode I0..*CodeableConceptCodes for the clinical conclusion of test results
Binding: SNOMEDCTClinicalFindings (example)
... presentedForm I0..*AttachmentEntire report as issued

doco Documentation for this format

 

Other representations of profile: Schematron

Terminology Bindings

Terminology Bindings

PathConformanceValueSet / Code
DiagnosticReport.languagepreferredCommonLanguages
Max Binding: AllLanguages
DiagnosticReport.statusrequiredDiagnosticReportStatus
DiagnosticReport.categoryexamplePattern: GE
DiagnosticReport.codepreferredLOINCDiagnosticReportCodes
DiagnosticReport.conclusionCodeexampleSNOMEDCTClinicalFindings

Constraints

Constraints

IdPathDetailsRequirements