STU3 Candidate

This page is part of the FHIR Specification (v1.8.0: STU 3 Draft). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions . Page versions: R4B R4 R3

(No assigned work group) Maturity Level: 0Context: Any

The official URL for this profile is:

http://hl7.org/fhir/StructureDefinition/observation-genetics

Describes how the observation resource is used to report structured genetic test results

This profile was published on Mon, Mar 14, 2016 00:00+1100 as a draft by Health Level Seven International (Clinical Genomics).

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

This structure is derived from Observation.

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation 0..*
... observation-geneticsDNASequenceVariantType 0..1CodeableConceptDNA sequence variant type
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsDNASequenceVariantType
... observation-geneticsAminoAcidChangeName 0..1CodeableConceptAmino acid change
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChangeName
Binding: ???? (preferred)
... observation-geneticsAminoAcidChangeType 0..1CodeableConceptAmino Acid Change Type
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChangeType
... observation-geneticsGene 0..1CodeableConceptHGNC gene symbol
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsGene
Binding: ???? (preferred)
... observation-geneticsDNARegionName 0..1stringDNA region name
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsDNARegionName
... observation-geneticsAlleleName 0..1CodeableConceptName of allele
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAlleleName
Binding: ???? (preferred)
... observation-geneticsAllelicState 0..1CodeableConceptThe level of occurrence of a single DNA sequence variant within a set of chromosomes: Heteroplasmic / Homoplasmic / Homozygous / Heterozygous / Hemizygous
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAllelicState
... observation-geneticsAllelicFrequency 0..1decimalAllele frequency
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAllelicFrequency
... observation-geneticsCopyNumberEvent 0..1CodeableConceptCopy number variation
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent
... observation-geneticsGenomicSourceClass 0..1CodeableConceptGenomic source class
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsGenomicSourceClass
... observation-geneticsPhaseSet 0..1uriPhase set identifier (UUID/OID)
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsPhaseSet
... observation-geneticsSequence 0..*Reference(Sequence)Sequence
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsSequence
... observation-geneticsInterpretation 0..1Reference(Observation)Clinical interpretations for variant
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsInterpretation

doco Documentation for this format
NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation I0..*Measurements and simple assertions
... id ∑0..1idLogical id of this artifact
... meta ∑0..1MetaMetadata about the resource
... implicitRules ?!∑0..1uriA set of rules under which this content was created
... language 0..1codeLanguage of the resource content
Binding: Common Languages (extensible)
... text I0..1NarrativeText summary of the resource, for human interpretation
... contained 0..*ResourceContained, inline Resources
... observation-geneticsDNASequenceVariantType I0..1CodeableConceptDNA sequence variant type
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsDNASequenceVariantType
... observation-geneticsAminoAcidChangeName I0..1CodeableConceptAmino acid change
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChangeName
Binding: ???? (preferred)
... observation-geneticsAminoAcidChangeType I0..1CodeableConceptAmino Acid Change Type
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChangeType
... observation-geneticsGene I0..1CodeableConceptHGNC gene symbol
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsGene
Binding: ???? (preferred)
... observation-geneticsDNARegionName I0..1stringDNA region name
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsDNARegionName
... observation-geneticsAlleleName I0..1CodeableConceptName of allele
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAlleleName
Binding: ???? (preferred)
... observation-geneticsAllelicState I0..1CodeableConceptThe level of occurrence of a single DNA sequence variant within a set of chromosomes: Heteroplasmic / Homoplasmic / Homozygous / Heterozygous / Hemizygous
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAllelicState
... observation-geneticsAllelicFrequency I0..1decimalAllele frequency
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAllelicFrequency
... observation-geneticsCopyNumberEvent I0..1CodeableConceptCopy number variation
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent
... observation-geneticsGenomicSourceClass I0..1CodeableConceptGenomic source class
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsGenomicSourceClass
... observation-geneticsPhaseSet I0..1uriPhase set identifier (UUID/OID)
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsPhaseSet
... observation-geneticsSequence I0..*Reference(Sequence)Sequence
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsSequence
... observation-geneticsInterpretation I0..1Reference(Observation)Clinical interpretations for variant
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsInterpretation
... modifierExtension ?!0..*ExtensionExtensions that cannot be ignored
... identifier 0..*IdentifierUnique Id for this particular observation
... status ?!∑1..1coderegistered | preliminary | final | amended +
Binding: ObservationStatus (required)
... category 0..*CodeableConceptClassification of type of observation
Binding: Observation Category Codes (example)
... code ∑1..1CodeableConceptType of observation (code / type)
Binding: LOINC Codes (example)
... subject ∑0..1Reference(Patient), Reference(Group), Reference(Device), Reference(Location)Who and/or what this is about
... encounter 0..1Reference(Encounter)Healthcare event during which this observation is made
... effective[x] ∑0..1dateTime, PeriodClinically relevant time/time-period for observation
... issued ∑0..1instantDate/Time this was made available
... performer ∑0..*Reference(Practitioner), Reference(Organization), Reference(Patient), Reference(RelatedPerson)Who is responsible for the observation
... value[x] ∑I0..1Quantity, CodeableConcept, string, Range, Ratio, SampledData, Attachment, time, dateTime, PeriodActual result
... dataAbsentReason I0..1CodeableConceptWhy the result is missing
Binding: Observation Value Absent Reason (extensible)
... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
... comment 0..1stringComments about result
... bodySite 0..1CodeableConceptObserved body part
Binding: SNOMED CT Body Structures (example)
... method 0..1CodeableConceptHow it was done
Binding: Observation Methods (example)
... specimen 0..1Reference(Specimen)Specimen used for this observation
... device 0..1Reference(Device), Reference(DeviceMetric)(Measurement) Device
... referenceRange I0..*BackboneElementProvides guide for interpretation
obs-3: Must have at least a low or a high or text
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional Content defined by implementations
.... modifierExtension ?!∑0..*ExtensionExtensions that cannot be ignored
.... low I0..1SimpleQuantityLow Range, if relevant
.... high I0..1SimpleQuantityHigh Range, if relevant
.... meaning 0..*CodeableConceptReference range qualifier
Binding: Observation Reference Range Meaning Codes (example)
.... age 0..1RangeApplicable age range, if relevant
.... text 0..1stringText based reference range in an observation
... related ∑I0..*BackboneElementResource related to this observation
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional Content defined by implementations
.... modifierExtension ?!∑0..*ExtensionExtensions that cannot be ignored
.... type 0..1codehas-member | derived-from | sequel-to | replaces | qualified-by | interfered-by
Binding: ObservationRelationshipType (required)
.... target 1..1Reference(Observation), Reference(QuestionnaireResponse), Reference(Sequence)Resource that is related to this one
... component ∑I0..*BackboneElementComponent results
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional Content defined by implementations
.... modifierExtension ?!∑0..*ExtensionExtensions that cannot be ignored
.... code ∑1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
.... value[x] ∑0..1Quantity, CodeableConcept, string, Range, Ratio, SampledData, Attachment, time, dateTime, PeriodActual component result
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: Observation Value Absent Reason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation:observation-genetics.referenceRange
Provides guide for interpretation of component result

doco Documentation for this format

todo

Differential View

This structure is derived from Observation.

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation 0..*
... observation-geneticsDNASequenceVariantType 0..1CodeableConceptDNA sequence variant type
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsDNASequenceVariantType
... observation-geneticsAminoAcidChangeName 0..1CodeableConceptAmino acid change
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChangeName
Binding: ???? (preferred)
... observation-geneticsAminoAcidChangeType 0..1CodeableConceptAmino Acid Change Type
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChangeType
... observation-geneticsGene 0..1CodeableConceptHGNC gene symbol
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsGene
Binding: ???? (preferred)
... observation-geneticsDNARegionName 0..1stringDNA region name
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsDNARegionName
... observation-geneticsAlleleName 0..1CodeableConceptName of allele
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAlleleName
Binding: ???? (preferred)
... observation-geneticsAllelicState 0..1CodeableConceptThe level of occurrence of a single DNA sequence variant within a set of chromosomes: Heteroplasmic / Homoplasmic / Homozygous / Heterozygous / Hemizygous
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAllelicState
... observation-geneticsAllelicFrequency 0..1decimalAllele frequency
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAllelicFrequency
... observation-geneticsCopyNumberEvent 0..1CodeableConceptCopy number variation
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent
... observation-geneticsGenomicSourceClass 0..1CodeableConceptGenomic source class
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsGenomicSourceClass
... observation-geneticsPhaseSet 0..1uriPhase set identifier (UUID/OID)
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsPhaseSet
... observation-geneticsSequence 0..*Reference(Sequence)Sequence
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsSequence
... observation-geneticsInterpretation 0..1Reference(Observation)Clinical interpretations for variant
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsInterpretation

doco Documentation for this format

Snapshot View

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation I0..*Measurements and simple assertions
... id ∑0..1idLogical id of this artifact
... meta ∑0..1MetaMetadata about the resource
... implicitRules ?!∑0..1uriA set of rules under which this content was created
... language 0..1codeLanguage of the resource content
Binding: Common Languages (extensible)
... text I0..1NarrativeText summary of the resource, for human interpretation
... contained 0..*ResourceContained, inline Resources
... observation-geneticsDNASequenceVariantType I0..1CodeableConceptDNA sequence variant type
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsDNASequenceVariantType
... observation-geneticsAminoAcidChangeName I0..1CodeableConceptAmino acid change
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChangeName
Binding: ???? (preferred)
... observation-geneticsAminoAcidChangeType I0..1CodeableConceptAmino Acid Change Type
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChangeType
... observation-geneticsGene I0..1CodeableConceptHGNC gene symbol
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsGene
Binding: ???? (preferred)
... observation-geneticsDNARegionName I0..1stringDNA region name
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsDNARegionName
... observation-geneticsAlleleName I0..1CodeableConceptName of allele
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAlleleName
Binding: ???? (preferred)
... observation-geneticsAllelicState I0..1CodeableConceptThe level of occurrence of a single DNA sequence variant within a set of chromosomes: Heteroplasmic / Homoplasmic / Homozygous / Heterozygous / Hemizygous
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAllelicState
... observation-geneticsAllelicFrequency I0..1decimalAllele frequency
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAllelicFrequency
... observation-geneticsCopyNumberEvent I0..1CodeableConceptCopy number variation
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent
... observation-geneticsGenomicSourceClass I0..1CodeableConceptGenomic source class
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsGenomicSourceClass
... observation-geneticsPhaseSet I0..1uriPhase set identifier (UUID/OID)
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsPhaseSet
... observation-geneticsSequence I0..*Reference(Sequence)Sequence
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsSequence
... observation-geneticsInterpretation I0..1Reference(Observation)Clinical interpretations for variant
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsInterpretation
... modifierExtension ?!0..*ExtensionExtensions that cannot be ignored
... identifier 0..*IdentifierUnique Id for this particular observation
... status ?!∑1..1coderegistered | preliminary | final | amended +
Binding: ObservationStatus (required)
... category 0..*CodeableConceptClassification of type of observation
Binding: Observation Category Codes (example)
... code ∑1..1CodeableConceptType of observation (code / type)
Binding: LOINC Codes (example)
... subject ∑0..1Reference(Patient), Reference(Group), Reference(Device), Reference(Location)Who and/or what this is about
... encounter 0..1Reference(Encounter)Healthcare event during which this observation is made
... effective[x] ∑0..1dateTime, PeriodClinically relevant time/time-period for observation
... issued ∑0..1instantDate/Time this was made available
... performer ∑0..*Reference(Practitioner), Reference(Organization), Reference(Patient), Reference(RelatedPerson)Who is responsible for the observation
... value[x] ∑I0..1Quantity, CodeableConcept, string, Range, Ratio, SampledData, Attachment, time, dateTime, PeriodActual result
... dataAbsentReason I0..1CodeableConceptWhy the result is missing
Binding: Observation Value Absent Reason (extensible)
... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
... comment 0..1stringComments about result
... bodySite 0..1CodeableConceptObserved body part
Binding: SNOMED CT Body Structures (example)
... method 0..1CodeableConceptHow it was done
Binding: Observation Methods (example)
... specimen 0..1Reference(Specimen)Specimen used for this observation
... device 0..1Reference(Device), Reference(DeviceMetric)(Measurement) Device
... referenceRange I0..*BackboneElementProvides guide for interpretation
obs-3: Must have at least a low or a high or text
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional Content defined by implementations
.... modifierExtension ?!∑0..*ExtensionExtensions that cannot be ignored
.... low I0..1SimpleQuantityLow Range, if relevant
.... high I0..1SimpleQuantityHigh Range, if relevant
.... meaning 0..*CodeableConceptReference range qualifier
Binding: Observation Reference Range Meaning Codes (example)
.... age 0..1RangeApplicable age range, if relevant
.... text 0..1stringText based reference range in an observation
... related ∑I0..*BackboneElementResource related to this observation
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional Content defined by implementations
.... modifierExtension ?!∑0..*ExtensionExtensions that cannot be ignored
.... type 0..1codehas-member | derived-from | sequel-to | replaces | qualified-by | interfered-by
Binding: ObservationRelationshipType (required)
.... target 1..1Reference(Observation), Reference(QuestionnaireResponse), Reference(Sequence)Resource that is related to this one
... component ∑I0..*BackboneElementComponent results
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional Content defined by implementations
.... modifierExtension ?!∑0..*ExtensionExtensions that cannot be ignored
.... code ∑1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
.... value[x] ∑0..1Quantity, CodeableConcept, string, Range, Ratio, SampledData, Attachment, time, dateTime, PeriodActual component result
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: Observation Value Absent Reason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation:observation-genetics.referenceRange
Provides guide for interpretation of component result

doco Documentation for this format

XML Template

JSON Template

todo

 

Other representations of profile: Schematron

PathNameConformanceValueSet
Observation.languageCommon LanguagesextensibleCommon Languages
Observation.statusObservationStatusrequiredObservationStatus
Observation.categoryObservation Category CodesexampleObservation Category Codes
Observation.codeLOINC CodesexampleLOINC Codes
Observation.dataAbsentReasonObservation Value Absent ReasonextensibleObservation Value Absent Reason
Observation.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes
Observation.bodySiteSNOMED CT Body StructuresexampleSNOMED CT Body Structures
Observation.methodObservation MethodsexampleObservation Methods
Observation.referenceRange.meaningObservation Reference Range Meaning CodesexampleObservation Reference Range Meaning Codes
Observation.related.typeObservationRelationshipTyperequiredObservationRelationshipType
Observation.component.codeLOINC CodesexampleLOINC Codes
Observation.component.dataAbsentReasonObservation Value Absent ReasonextensibleObservation Value Absent Reason
Observation.component.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes
IdPathDetailsRequirements
obs-3Observation.referenceRangeMust have at least a low or a high or text
XPath: (exists(f:low) or exists(f:high)or exists(f:text))
.