Release 4B

This page is part of the FHIR Specification (v4.3.0: R4B - STU). 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

10.1.14.11 StructureDefinition: Observation-genetics

Orders and Observations Work Group Maturity Level: 0Trial Use Use Context: 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, Nov 17, 2014 00:00+1100 as a draft by Health Level Seven International (Health Care Devices).

10.1.14.11.1 Formal Views of Profile Content

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

This structure is derived from Observation.

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation 0..*ObservationMeasurements and simple assertions
... observation-geneticsGene 0..1CodeableConceptHGNC gene symbol
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsGene
Binding: HGNC (preferred): Gene Identifiers Reference

... observation-geneticsDNARegionName 0..1stringDNA region name
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsDNARegionName
... observation-geneticsCopyNumberEvent 0..1CodeableConceptCopy number variation
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent
... observation-geneticsInterpretation 0..1Reference(Observation)Clinical interpretations for variant
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsInterpretation
... observation-geneticsVariant 0..1(Complex)Variant
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsVariant
... observation-geneticsAminoAcidChange 0..1(Complex)AminoAcidChange
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChange
... observation-geneticsAllele 0..1(Complex)Allele
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAllele
... observation-geneticsAncestry 0..1(Complex)Ancestry
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAncestry
... observation-geneticsPhaseSet 0..*(Complex)Phase set
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsPhaseSet

doco Documentation for this format
NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation I0..*ObservationMeasurements and simple assertions
... id Σ0..1idLogical id of this artifact
... meta Σ0..1MetaMetadata about the resource
... implicitRules ?!Σ0..1uriA set of rules under which this content was created
... language 0..1codeLanguage of the resource content
Binding: Common Languages (preferred): IETF language tag

Additional BindingsPurpose
All LanguagesMax Binding
... text 0..1NarrativeText summary of the resource, for human interpretation
... contained 0..*ResourceContained, inline Resources
... Slices for extension 0..*ExtensionExtension
Slice: Unordered, Open by value:url
... observation-geneticsGene 0..1CodeableConceptHGNC gene symbol
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsGene
Binding: HGNC (preferred): Gene Identifiers Reference


... observation-geneticsDNARegionName 0..1stringDNA region name
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsDNARegionName
... 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-geneticsInterpretation 0..1Reference(Observation)Clinical interpretations for variant
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsInterpretation
... observation-geneticsVariant 0..1(Complex)Variant
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsVariant
... observation-geneticsAminoAcidChange 0..1(Complex)AminoAcidChange
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChange
... observation-geneticsAllele 0..1(Complex)Allele
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAllele
... observation-geneticsAncestry 0..1(Complex)Ancestry
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAncestry
... observation-geneticsPhaseSet 0..*(Complex)Phase set
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsPhaseSet
... modifierExtension ?!0..*ExtensionExtensions that cannot be ignored
... identifier Σ0..*IdentifierBusiness Identifier for observation
... basedOn Σ0..*Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest)Fulfills plan, proposal or order
... partOf Σ0..*Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy)Part of referenced event
... status ?!Σ1..1coderegistered | preliminary | final | amended +
Binding: ObservationStatus (required): Codes providing the status of an observation.

... category 0..*CodeableConceptClassification of type of observation
Binding: Observation Category Codes (preferred): Codes for high level observation categories.


... code Σ1..1CodeableConceptType of observation (code / type)
Binding: LOINC Codes (example): Codes identifying names of simple observations.

... subject Σ0..1Reference(Patient | Group | Device | Location | Organization | Procedure | Practitioner | Medication | Substance)Who and/or what the observation is about
... focus Σ0..*Reference(Resource)What the observation is about, when it is not about the subject of record
... encounter Σ0..1Reference(Encounter)Healthcare event during which this observation is made
... effective[x] Σ0..1Clinically relevant time/time-period for observation
.... effectiveDateTimedateTime
.... effectivePeriodPeriod
.... effectiveTimingTiming
.... effectiveInstantinstant
... issued Σ0..1instantDate/Time this version was made available
... performer Σ0..*Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson)Who is responsible for the observation
... value[x] ΣI0..1Actual result
.... valueQuantityQuantity
.... valueCodeableConceptCodeableConcept
.... valueStringstring
.... valueBooleanboolean
.... valueIntegerinteger
.... valueRangeRange
.... valueRatioRatio
.... valueSampledDataSampledData
.... valueTimetime
.... valueDateTimedateTime
.... valuePeriodPeriod
... dataAbsentReason I0..1CodeableConceptWhy the result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

... interpretation 0..*CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible): Codes identifying interpretations of observations.


... note 0..*AnnotationComments about the observation
... bodySite 0..1CodeableConceptObserved body part
Binding: SNOMED CT Body Structures (example): SNOMED CT Body site concepts

... method 0..1CodeableConceptHow it was done
Binding: Observation Methods (example): Methods for simple observations.

... specimen 0..1Reference(Specimen)Specimen used for this observation
... device 0..1Reference(Device | DeviceMetric)(Measurement) Device
... referenceRange I0..*BackboneElementProvides guide for interpretation
.... id 0..1stringUnique id for inter-element referencing
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
.... low I0..1SimpleQuantityLow Range, if relevant
.... high I0..1SimpleQuantityHigh Range, if relevant
.... type 0..1CodeableConceptReference range qualifier
Binding: Observation Reference Range Meaning Codes (preferred): Code for the meaning of a reference range.

.... appliesTo 0..*CodeableConceptReference range population
Binding: Observation Reference Range Applies To Codes (example): Codes identifying the population the reference range applies to.


.... age 0..1RangeApplicable age range, if relevant
.... text 0..1stringText based reference range in an observation
... hasMember Σ0..*Reference(Observation | QuestionnaireResponse | MolecularSequence)Related resource that belongs to the Observation group
... derivedFrom Σ0..*Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence)Related measurements the observation is made from
... component Σ0..*BackboneElementComponent results
.... id 0..1stringUnique id for inter-element referencing
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
.... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example): Codes identifying names of simple observations.

.... value[x] Σ0..1Actual component result
..... valueQuantityQuantity
..... valueCodeableConceptCodeableConcept
..... valueStringstring
..... valueBooleanboolean
..... valueIntegerinteger
..... valueRangeRange
..... valueRatioRatio
..... valueSampledDataSampledData
..... valueTimetime
..... valueDateTimedateTime
..... valuePeriodPeriod
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

.... interpretation 0..*CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible): Codes identifying interpretations of observations.


.... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result

doco Documentation for this format
<!-- Observation-genetics -->doco

<Observation xmlns="http://hl7.org/fhir"
>
  <!-- from Element: extension -->
 <id value="[id]"/><!-- 0..1 Logical id of this artifact -->
 <meta><!-- ?? 0..1 Meta Metadata about the resource --></meta>
 <implicitRules value="[uri]"/><!-- ?? 0..1 A set of rules under which this content was created -->
 <language value="[code]"/><!-- ?? 0..1 Language of the resource content   -->
 <text><!-- ?? 0..1 Narrative 
     Text summary of the resource, for human interpretation --></text>
 <contained><!-- ?? 0..* Resource Contained, inline Resources --></contained>
 <modifierExtension><!-- ?? 0..* Extension  Extensions that cannot be ignored  --></modifierExtension>
 <identifier><!-- ?? 0..* Identifier 
     Business Identifier for observation --></identifier>
 <basedOn><!-- ?? 0..* Reference(CarePlan) Fulfills plan, proposal or order --></basedOn>
 <partOf><!-- ?? 0..* Reference(MedicationAdministration) Part of referenced event --></partOf>
 <status value="[code]"/><!-- ?? 1..1 registered | preliminary | final | amended +   -->
 <category><!-- ?? 0..* CodeableConcept Classification of  type of observation   --></category>
 <code><!-- ?? 1..1 CodeableConcept Type of observation (code / type)   --></code>
 <subject><!-- ?? 0..1 Reference(Patient) 
     Who and/or what the observation is about --></subject>
 <focus><!-- ?? 0..* Reference(Resource) 
     What the observation is about, when it is not about the subject of record --></focus>
 <encounter><!-- ?? 0..1 Reference(Encounter) 
     Healthcare event during which this observation is made --></encounter>
 <effective[x]><!-- ?? 0..1 dateTime|Period|Timing|instant 
     Clinically relevant time/time-period for observation --></effective[x]>
 <issued value="[instant]"/><!-- ?? 0..1 Date/Time this version was made available -->
 <performer><!-- ?? 0..* Reference(Practitioner) 
     Who is responsible for the observation --></performer>
 <value[x]><!-- ?? 0..1 Quantity|CodeableConcept|string|boolean|integer|
   Range|Ratio|SampledData|time|dateTime|Period Actual result --></value[x]>
 <dataAbsentReason><!-- ?? 0..1 CodeableConcept Why the result is missing   --></dataAbsentReason>
 <interpretation><!-- ?? 0..* CodeableConcept High, low, normal, etc.   --></interpretation>
 <note><!-- ?? 0..* Annotation Comments about the observation --></note>
 <bodySite><!-- ?? 0..1 CodeableConcept Observed body part   --></bodySite>
 <method><!-- ?? 0..1 CodeableConcept How it was done   --></method>
 <specimen><!-- ?? 0..1 Reference(Specimen) Specimen used for this observation --></specimen>
 <device><!-- ?? 0..1 Reference(Device) (Measurement) Device --></device>
 <referenceRange> ?? 0..* BackboneElement  <!-- ?? 0..* Provides guide for interpretation -->
  <modifierExtension><!-- ?? 0..* Extension  Extensions that cannot be ignored even if unrecognized  --></modifierExtension>
  <low><!-- ?? 0..1 Quantity 
      Low Range, if relevant --></low>
  <high><!-- ?? 0..1 Quantity 
      High Range, if relevant --></high>
  <type><!-- ?? 0..1 CodeableConcept Reference range qualifier   --></type>
  <appliesTo><!-- ?? 0..* CodeableConcept Reference range population   --></appliesTo>
  <age><!-- ?? 0..1 Range 
      Applicable age range, if relevant --></age>
  <text value="[string]"/><!-- ?? 0..1 Text based reference range in an observation -->
 </referenceRange>
 <hasMember><!-- ?? 0..* Reference(Observation) 
     Related resource that belongs to the Observation group --></hasMember>
 <derivedFrom><!-- ?? 0..* Reference(DocumentReference) 
     Related measurements the observation is made from --></derivedFrom>
 <component> ?? 0..* BackboneElement  <!-- ?? 0..* Component results -->
  <modifierExtension><!-- ?? 0..* Extension  Extensions that cannot be ignored even if unrecognized  --></modifierExtension>
  <code><!-- ?? 1..1 CodeableConcept Type of component observation (code / type)   --></code>
  <value[x]><!-- ?? 0..1 Quantity|CodeableConcept|string|
    boolean|integer|Range|Ratio|SampledData|time|dateTime|Period 
      Actual component result --></value[x]>
  <dataAbsentReason><!-- ?? 0..1 CodeableConcept Why the component result is missing   --></dataAbsentReason>
  <interpretation><!-- ?? 0..* CodeableConcept High, low, normal, etc.   --></interpretation>
  <referenceRange><!-- See http://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange  Provides guide for interpretation of component result --></referenceRange>
 </component>
</Observation>

{ // Observation-genetics
  // from Element: extension
    "meta" : { Meta }, // C?Metadata about the resource
    "implicitRules" : "<uri>", // C?A set of rules under which this content was created
    "language" : "<code>", // C?Language of the resource content
    "text" : { Narrative }, // C?Text summary of the resource, for human interpretation
    "contained" : [{ Resource }], // C?Contained, inline Resources
    "extension" : [ //  sliced by value:url  in the specified order, Open 
      { // HGNC gene symbol // C?
        // from Element: extension
      },
      { // DNA region name // C?
        // from Element: extension
      },
      { // Copy number variation // C?
        // from Element: extension
      },
      { // Genomic source class // C?
        // from Element: extension
      },
      { // Clinical interpretations for variant // C?
        // from Element: extension
      },
      { // Variant // C?
        // from Element: extension
      },
      { // AminoAcidChange // C?
        // from Element: extension
      },
      { // Allele // C?
        // from Element: extension
      },
      { // Ancestry // C?
        // from Element: extension
      },
      { // Phase set // C?
        // from Element: extension
      }
    ],
    "modifierExtension" : [{ Extension }], // C?Extensions that cannot be ignored
    "identifier" : [{ Identifier }], // C?Business Identifier for observation
    "basedOn" : [{ Reference(CarePlan) }], // C?Fulfills plan, proposal or order
    "partOf" : [{ Reference(MedicationAdministration) }], // C?Part of referenced event
    "status" : "<code>", // C? R! registered | preliminary | final | amended +
    "category" : [{ CodeableConcept }], // C?Classification of  type of observation
    "code" : { CodeableConcept }, // C? R! Type of observation (code / type)
    "subject" : { Reference(Patient) }, // C?Who and/or what the observation is about
    "focus" : [{ Reference(Resource) }], // C?What the observation is about, when it is not about the subject of record
    "encounter" : { Reference(Encounter) }, // C?Healthcare event during which this observation is made
// value[x]: Clinically relevant time/time-period for observation. One of these 4:
    "effectiveDateTime" : "<dateTime>", // C?Clinically relevant time/time-period for observation
    "effectivePeriod" : { Period }, // C?Clinically relevant time/time-period for observation
    "effectiveTiming" : { Timing }, // C?Clinically relevant time/time-period for observation
    "effectiveInstant" : "<instant>", // C?Clinically relevant time/time-period for observation
    "issued" : "<instant>", // C?Date/Time this version was made available
    "performer" : [{ Reference(Practitioner) }], // C?Who is responsible for the observation
// value[x]: Actual result. One of these 11:
    "valueQuantity" : { Quantity }, // C?Actual result
    "valueCodeableConcept" : { CodeableConcept }, // C?Actual result
    "valueString" : "<string>", // C?Actual result
    "valueBoolean" : <boolean>, // C?Actual result
    "valueInteger" : <integer>, // C?Actual result
    "valueRange" : { Range }, // C?Actual result
    "valueRatio" : { Ratio }, // C?Actual result
    "valueSampledData" : { SampledData }, // C?Actual result
    "valueTime" : "<time>", // C?Actual result
    "valueDateTime" : "<dateTime>", // C?Actual result
    "valuePeriod" : { Period }, // C?Actual result
    "dataAbsentReason" : { CodeableConcept }, // C?Why the result is missing
    "interpretation" : [{ CodeableConcept }], // C?High, low, normal, etc.
    "note" : [{ Annotation }], // C?Comments about the observation
    "bodySite" : { CodeableConcept }, // C?Observed body part
    "method" : { CodeableConcept }, // C?How it was done
    "specimen" : { Reference(Specimen) }, // C?Specimen used for this observation
    "device" : { Reference(Device) }, // C?(Measurement) Device
    "referenceRange" : [{ BackboneElement }] // C?Provides guide for interpretation
    "hasMember" : [{ Reference(Observation) }], // C?Related resource that belongs to the Observation group
    "derivedFrom" : [{ Reference(DocumentReference) }], // C?Related measurements the observation is made from
    "component" : [{ BackboneElement }], // C?Component results
  }

Differential View

This structure is derived from Observation.

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation 0..*ObservationMeasurements and simple assertions
... observation-geneticsGene 0..1CodeableConceptHGNC gene symbol
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsGene
Binding: HGNC (preferred): Gene Identifiers Reference

... observation-geneticsDNARegionName 0..1stringDNA region name
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsDNARegionName
... observation-geneticsCopyNumberEvent 0..1CodeableConceptCopy number variation
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent
... observation-geneticsInterpretation 0..1Reference(Observation)Clinical interpretations for variant
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsInterpretation
... observation-geneticsVariant 0..1(Complex)Variant
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsVariant
... observation-geneticsAminoAcidChange 0..1(Complex)AminoAcidChange
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChange
... observation-geneticsAllele 0..1(Complex)Allele
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAllele
... observation-geneticsAncestry 0..1(Complex)Ancestry
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAncestry
... observation-geneticsPhaseSet 0..*(Complex)Phase set
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsPhaseSet

doco Documentation for this format

Snapshot View

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation I0..*ObservationMeasurements and simple assertions
... id Σ0..1idLogical id of this artifact
... meta Σ0..1MetaMetadata about the resource
... implicitRules ?!Σ0..1uriA set of rules under which this content was created
... language 0..1codeLanguage of the resource content
Binding: Common Languages (preferred): IETF language tag

Additional BindingsPurpose
All LanguagesMax Binding
... text 0..1NarrativeText summary of the resource, for human interpretation
... contained 0..*ResourceContained, inline Resources
... Slices for extension 0..*ExtensionExtension
Slice: Unordered, Open by value:url
... observation-geneticsGene 0..1CodeableConceptHGNC gene symbol
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsGene
Binding: HGNC (preferred): Gene Identifiers Reference


... observation-geneticsDNARegionName 0..1stringDNA region name
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsDNARegionName
... 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-geneticsInterpretation 0..1Reference(Observation)Clinical interpretations for variant
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsInterpretation
... observation-geneticsVariant 0..1(Complex)Variant
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsVariant
... observation-geneticsAminoAcidChange 0..1(Complex)AminoAcidChange
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChange
... observation-geneticsAllele 0..1(Complex)Allele
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAllele
... observation-geneticsAncestry 0..1(Complex)Ancestry
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAncestry
... observation-geneticsPhaseSet 0..*(Complex)Phase set
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsPhaseSet
... modifierExtension ?!0..*ExtensionExtensions that cannot be ignored
... identifier Σ0..*IdentifierBusiness Identifier for observation
... basedOn Σ0..*Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest)Fulfills plan, proposal or order
... partOf Σ0..*Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy)Part of referenced event
... status ?!Σ1..1coderegistered | preliminary | final | amended +
Binding: ObservationStatus (required): Codes providing the status of an observation.

... category 0..*CodeableConceptClassification of type of observation
Binding: Observation Category Codes (preferred): Codes for high level observation categories.


... code Σ1..1CodeableConceptType of observation (code / type)
Binding: LOINC Codes (example): Codes identifying names of simple observations.

... subject Σ0..1Reference(Patient | Group | Device | Location | Organization | Procedure | Practitioner | Medication | Substance)Who and/or what the observation is about
... focus Σ0..*Reference(Resource)What the observation is about, when it is not about the subject of record
... encounter Σ0..1Reference(Encounter)Healthcare event during which this observation is made
... effective[x] Σ0..1Clinically relevant time/time-period for observation
.... effectiveDateTimedateTime
.... effectivePeriodPeriod
.... effectiveTimingTiming
.... effectiveInstantinstant
... issued Σ0..1instantDate/Time this version was made available
... performer Σ0..*Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson)Who is responsible for the observation
... value[x] ΣI0..1Actual result
.... valueQuantityQuantity
.... valueCodeableConceptCodeableConcept
.... valueStringstring
.... valueBooleanboolean
.... valueIntegerinteger
.... valueRangeRange
.... valueRatioRatio
.... valueSampledDataSampledData
.... valueTimetime
.... valueDateTimedateTime
.... valuePeriodPeriod
... dataAbsentReason I0..1CodeableConceptWhy the result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

... interpretation 0..*CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible): Codes identifying interpretations of observations.


... note 0..*AnnotationComments about the observation
... bodySite 0..1CodeableConceptObserved body part
Binding: SNOMED CT Body Structures (example): SNOMED CT Body site concepts

... method 0..1CodeableConceptHow it was done
Binding: Observation Methods (example): Methods for simple observations.

... specimen 0..1Reference(Specimen)Specimen used for this observation
... device 0..1Reference(Device | DeviceMetric)(Measurement) Device
... referenceRange I0..*BackboneElementProvides guide for interpretation
.... id 0..1stringUnique id for inter-element referencing
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
.... low I0..1SimpleQuantityLow Range, if relevant
.... high I0..1SimpleQuantityHigh Range, if relevant
.... type 0..1CodeableConceptReference range qualifier
Binding: Observation Reference Range Meaning Codes (preferred): Code for the meaning of a reference range.

.... appliesTo 0..*CodeableConceptReference range population
Binding: Observation Reference Range Applies To Codes (example): Codes identifying the population the reference range applies to.


.... age 0..1RangeApplicable age range, if relevant
.... text 0..1stringText based reference range in an observation
... hasMember Σ0..*Reference(Observation | QuestionnaireResponse | MolecularSequence)Related resource that belongs to the Observation group
... derivedFrom Σ0..*Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence)Related measurements the observation is made from
... component Σ0..*BackboneElementComponent results
.... id 0..1stringUnique id for inter-element referencing
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
.... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example): Codes identifying names of simple observations.

.... value[x] Σ0..1Actual component result
..... valueQuantityQuantity
..... valueCodeableConceptCodeableConcept
..... valueStringstring
..... valueBooleanboolean
..... valueIntegerinteger
..... valueRangeRange
..... valueRatioRatio
..... valueSampledDataSampledData
..... valueTimetime
..... valueDateTimedateTime
..... valuePeriodPeriod
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

.... interpretation 0..*CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible): Codes identifying interpretations of observations.


.... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result

doco Documentation for this format

XML Template

<!-- Observation-genetics -->doco

<Observation xmlns="http://hl7.org/fhir"
>
  <!-- from Element: extension -->
 <id value="[id]"/><!-- 0..1 Logical id of this artifact -->
 <meta><!-- ?? 0..1 Meta Metadata about the resource --></meta>
 <implicitRules value="[uri]"/><!-- ?? 0..1 A set of rules under which this content was created -->
 <language value="[code]"/><!-- ?? 0..1 Language of the resource content   -->
 <text><!-- ?? 0..1 Narrative 
     Text summary of the resource, for human interpretation --></text>
 <contained><!-- ?? 0..* Resource Contained, inline Resources --></contained>
 <modifierExtension><!-- ?? 0..* Extension  Extensions that cannot be ignored  --></modifierExtension>
 <identifier><!-- ?? 0..* Identifier 
     Business Identifier for observation --></identifier>
 <basedOn><!-- ?? 0..* Reference(CarePlan) Fulfills plan, proposal or order --></basedOn>
 <partOf><!-- ?? 0..* Reference(MedicationAdministration) Part of referenced event --></partOf>
 <status value="[code]"/><!-- ?? 1..1 registered | preliminary | final | amended +   -->
 <category><!-- ?? 0..* CodeableConcept Classification of  type of observation   --></category>
 <code><!-- ?? 1..1 CodeableConcept Type of observation (code / type)   --></code>
 <subject><!-- ?? 0..1 Reference(Patient) 
     Who and/or what the observation is about --></subject>
 <focus><!-- ?? 0..* Reference(Resource) 
     What the observation is about, when it is not about the subject of record --></focus>
 <encounter><!-- ?? 0..1 Reference(Encounter) 
     Healthcare event during which this observation is made --></encounter>
 <effective[x]><!-- ?? 0..1 dateTime|Period|Timing|instant 
     Clinically relevant time/time-period for observation --></effective[x]>
 <issued value="[instant]"/><!-- ?? 0..1 Date/Time this version was made available -->
 <performer><!-- ?? 0..* Reference(Practitioner) 
     Who is responsible for the observation --></performer>
 <value[x]><!-- ?? 0..1 Quantity|CodeableConcept|string|boolean|integer|
   Range|Ratio|SampledData|time|dateTime|Period Actual result --></value[x]>
 <dataAbsentReason><!-- ?? 0..1 CodeableConcept Why the result is missing   --></dataAbsentReason>
 <interpretation><!-- ?? 0..* CodeableConcept High, low, normal, etc.   --></interpretation>
 <note><!-- ?? 0..* Annotation Comments about the observation --></note>
 <bodySite><!-- ?? 0..1 CodeableConcept Observed body part   --></bodySite>
 <method><!-- ?? 0..1 CodeableConcept How it was done   --></method>
 <specimen><!-- ?? 0..1 Reference(Specimen) Specimen used for this observation --></specimen>
 <device><!-- ?? 0..1 Reference(Device) (Measurement) Device --></device>
 <referenceRange> ?? 0..* BackboneElement  <!-- ?? 0..* Provides guide for interpretation -->
  <modifierExtension><!-- ?? 0..* Extension  Extensions that cannot be ignored even if unrecognized  --></modifierExtension>
  <low><!-- ?? 0..1 Quantity 
      Low Range, if relevant --></low>
  <high><!-- ?? 0..1 Quantity 
      High Range, if relevant --></high>
  <type><!-- ?? 0..1 CodeableConcept Reference range qualifier   --></type>
  <appliesTo><!-- ?? 0..* CodeableConcept Reference range population   --></appliesTo>
  <age><!-- ?? 0..1 Range 
      Applicable age range, if relevant --></age>
  <text value="[string]"/><!-- ?? 0..1 Text based reference range in an observation -->
 </referenceRange>
 <hasMember><!-- ?? 0..* Reference(Observation) 
     Related resource that belongs to the Observation group --></hasMember>
 <derivedFrom><!-- ?? 0..* Reference(DocumentReference) 
     Related measurements the observation is made from --></derivedFrom>
 <component> ?? 0..* BackboneElement  <!-- ?? 0..* Component results -->
  <modifierExtension><!-- ?? 0..* Extension  Extensions that cannot be ignored even if unrecognized  --></modifierExtension>
  <code><!-- ?? 1..1 CodeableConcept Type of component observation (code / type)   --></code>
  <value[x]><!-- ?? 0..1 Quantity|CodeableConcept|string|
    boolean|integer|Range|Ratio|SampledData|time|dateTime|Period 
      Actual component result --></value[x]>
  <dataAbsentReason><!-- ?? 0..1 CodeableConcept Why the component result is missing   --></dataAbsentReason>
  <interpretation><!-- ?? 0..* CodeableConcept High, low, normal, etc.   --></interpretation>
  <referenceRange><!-- See http://hl7.org/fhir/StructureDefinition/Observation#Observation.referenceRange  Provides guide for interpretation of component result --></referenceRange>
 </component>
</Observation>

JSON Template

{ // Observation-genetics
  // from Element: extension
    "meta" : { Meta }, // C?Metadata about the resource
    "implicitRules" : "<uri>", // C?A set of rules under which this content was created
    "language" : "<code>", // C?Language of the resource content
    "text" : { Narrative }, // C?Text summary of the resource, for human interpretation
    "contained" : [{ Resource }], // C?Contained, inline Resources
    "extension" : [ //  sliced by value:url  in the specified order, Open 
      { // HGNC gene symbol // C?
        // from Element: extension
      },
      { // DNA region name // C?
        // from Element: extension
      },
      { // Copy number variation // C?
        // from Element: extension
      },
      { // Genomic source class // C?
        // from Element: extension
      },
      { // Clinical interpretations for variant // C?
        // from Element: extension
      },
      { // Variant // C?
        // from Element: extension
      },
      { // AminoAcidChange // C?
        // from Element: extension
      },
      { // Allele // C?
        // from Element: extension
      },
      { // Ancestry // C?
        // from Element: extension
      },
      { // Phase set // C?
        // from Element: extension
      }
    ],
    "modifierExtension" : [{ Extension }], // C?Extensions that cannot be ignored
    "identifier" : [{ Identifier }], // C?Business Identifier for observation
    "basedOn" : [{ Reference(CarePlan) }], // C?Fulfills plan, proposal or order
    "partOf" : [{ Reference(MedicationAdministration) }], // C?Part of referenced event
    "status" : "<code>", // C? R! registered | preliminary | final | amended +
    "category" : [{ CodeableConcept }], // C?Classification of  type of observation
    "code" : { CodeableConcept }, // C? R! Type of observation (code / type)
    "subject" : { Reference(Patient) }, // C?Who and/or what the observation is about
    "focus" : [{ Reference(Resource) }], // C?What the observation is about, when it is not about the subject of record
    "encounter" : { Reference(Encounter) }, // C?Healthcare event during which this observation is made
// value[x]: Clinically relevant time/time-period for observation. One of these 4:
    "effectiveDateTime" : "<dateTime>", // C?Clinically relevant time/time-period for observation
    "effectivePeriod" : { Period }, // C?Clinically relevant time/time-period for observation
    "effectiveTiming" : { Timing }, // C?Clinically relevant time/time-period for observation
    "effectiveInstant" : "<instant>", // C?Clinically relevant time/time-period for observation
    "issued" : "<instant>", // C?Date/Time this version was made available
    "performer" : [{ Reference(Practitioner) }], // C?Who is responsible for the observation
// value[x]: Actual result. One of these 11:
    "valueQuantity" : { Quantity }, // C?Actual result
    "valueCodeableConcept" : { CodeableConcept }, // C?Actual result
    "valueString" : "<string>", // C?Actual result
    "valueBoolean" : <boolean>, // C?Actual result
    "valueInteger" : <integer>, // C?Actual result
    "valueRange" : { Range }, // C?Actual result
    "valueRatio" : { Ratio }, // C?Actual result
    "valueSampledData" : { SampledData }, // C?Actual result
    "valueTime" : "<time>", // C?Actual result
    "valueDateTime" : "<dateTime>", // C?Actual result
    "valuePeriod" : { Period }, // C?Actual result
    "dataAbsentReason" : { CodeableConcept }, // C?Why the result is missing
    "interpretation" : [{ CodeableConcept }], // C?High, low, normal, etc.
    "note" : [{ Annotation }], // C?Comments about the observation
    "bodySite" : { CodeableConcept }, // C?Observed body part
    "method" : { CodeableConcept }, // C?How it was done
    "specimen" : { Reference(Specimen) }, // C?Specimen used for this observation
    "device" : { Reference(Device) }, // C?(Measurement) Device
    "referenceRange" : [{ BackboneElement }] // C?Provides guide for interpretation
    "hasMember" : [{ Reference(Observation) }], // C?Related resource that belongs to the Observation group
    "derivedFrom" : [{ Reference(DocumentReference) }], // C?Related measurements the observation is made from
    "component" : [{ BackboneElement }], // C?Component results
  }

 

Alternate definitions: Master Definition (XML, JSON), Schematron

10.1.14.11.2 Terminology Bindings

PathNameConformanceValueSet
Observation.languageCommon LanguagespreferredCommon Languages
Observation.statusObservationStatusrequiredObservationStatus
Observation.categoryObservation Category CodespreferredObservation Category Codes
Observation.codeLOINC CodesexampleLOINC Codes
Observation.dataAbsentReasonDataAbsentReasonextensibleDataAbsentReason
Observation.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes
Observation.bodySiteSNOMED CT Body StructuresexampleSNOMED CT Body Structures
Observation.methodObservation MethodsexampleObservation Methods
Observation.referenceRange.typeObservation Reference Range Meaning CodespreferredObservation Reference Range Meaning Codes
Observation.referenceRange.appliesToObservation Reference Range Applies To CodesexampleObservation Reference Range Applies To Codes
Observation.component.codeLOINC CodesexampleLOINC Codes
Observation.component.dataAbsentReasonDataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes
.