Release 5 Preview #1

This page is part of the FHIR Specification (v4.2.0: R5 Preview #1). 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

10.1.16.6 StructureDefinition: Observation-Genetics

Orders and Observations Work Group Maturity Level: 1Trial 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, Mar 14, 2016 00:00+1100 as a draft by Health Level Seven International (Clinical Genomics).

10.1.16.6.1 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..*Observation
... observation-geneticsGene 0..1CodeableConceptHGNC gene symbol
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsGene
Binding: H g n c (preferred)
... 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 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: Common Languages (preferred)
Max Binding: All Languages
... text I0..1NarrativeText summary of the resource, for human interpretation
... contained 0..*ResourceContained, inline Resources
... extension I0..*ExtensionExtension
Slice: Unordered, Open by value:url
... observation-geneticsGene I0..1CodeableConceptHGNC gene symbol
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsGene
Binding: H g n c (preferred)
... observation-geneticsDNARegionName I0..1stringDNA region name
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsDNARegionName
... 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-geneticsInterpretation I0..1Reference(Observation)Clinical interpretations for variant
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsInterpretation
... observation-geneticsVariant I0..1(Complex)Variant
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsVariant
... observation-geneticsAminoAcidChange I0..1(Complex)AminoAcidChange
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChange
... observation-geneticsAllele I0..1(Complex)Allele
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAllele
... observation-geneticsAncestry I0..1(Complex)Ancestry
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAncestry
... observation-geneticsPhaseSet I0..*(Complex)Phase set
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsPhaseSet
... modifierExtension ?!I0..*ExtensionExtensions that cannot be ignored
... identifier ΣI0..*IdentifierBusiness Identifier for observation
... basedOn ΣI0..*Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest)Fulfills plan, proposal or order
... partOf ΣI0..*Reference(MedicationAdministration | MedicationDispense | MedicationUsage | Procedure | Immunization | ImagingStudy)Part of referenced event
... status ?!ΣI1..1coderegistered | preliminary | final | amended +
Binding: ObservationStatus (required)
... category I0..*CodeableConceptClassification of type of observation
Binding: Observation Category Codes (preferred)
... code ΣI1..1CodeableConceptType of observation (code / type)
Binding: LOINC Codes (example)
... subject ΣI0..1Reference(Patient | Group | Device | Location)Who and/or what the observation is about
... focus ΣI0..*Reference(Resource)What the observation is about, when it is not about the subject of record
... encounter ΣI0..1Reference(Encounter)Healthcare event during which this observation is made
... effective[x] ΣI0..1Clinically relevant time/time-period for observation
.... effectiveDateTimedateTime
.... effectivePeriodPeriod
.... effectiveTimingTiming
.... effectiveInstantinstant
... issued ΣI0..1instantDate/Time this version was made available
... performer ΣI0..*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
.... valueAttachmentAttachment
... dataAbsentReason I0..1CodeableConceptWhy the result is missing
Binding: DataAbsentReason (extensible)
... interpretation I0..*CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
... note I0..*AnnotationComments about the observation
... bodySite I0..1CodeableConceptObserved body part
Binding: SNOMED CT Body Structures (example)
... method I0..1CodeableConceptHow it was done
Binding: Observation Methods (example)
... specimen I0..1Reference(Specimen)Specimen used for this observation
... device I0..1Reference(Device | DeviceMetric)(Measurement) Device
... referenceRange I0..*BackboneElementProvides guide for interpretation
obs-3: Must have at least a low or a high or text
.... id 0..1idUnique id for inter-element referencing
.... extension I0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!ΣI0..*ExtensionExtensions that cannot be ignored even if unrecognized
.... low I0..1SimpleQuantityLow Range, if relevant
.... high I0..1SimpleQuantityHigh Range, if relevant
.... type I0..1CodeableConceptReference range qualifier
Binding: Observation Reference Range Meaning Codes (preferred)
.... appliesTo I0..*CodeableConceptReference range population
Binding: Observation Reference Range Applies To Codes (example)
.... age I0..1RangeApplicable age range, if relevant
.... text I0..1stringText based reference range in an observation
... hasMember ΣI0..*Reference(Observation | QuestionnaireResponse | MolecularSequence)Related resource that belongs to the Observation group
... derivedFrom ΣI0..*Reference(DocumentReference | ImagingStudy | QuestionnaireResponse | Observation | MolecularSequence)Related measurements the observation is made from
... component ΣI0..*BackboneElementComponent results
.... id 0..1idUnique id for inter-element referencing
.... extension I0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!ΣI0..*ExtensionExtensions that cannot be ignored even if unrecognized
.... code ΣI1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
.... value[x] ΣI0..1Actual component result
..... valueQuantityQuantity
..... valueCodeableConceptCodeableConcept
..... valueStringstring
..... valueBooleanboolean
..... valueIntegerinteger
..... valueRangeRange
..... valueRatioRatio
..... valueSampledDataSampledData
..... valueTimetime
..... valueDateTimedateTime
..... valuePeriodPeriod
..... valueAttachmentAttachment
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation I0..*CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange I0..*Unknown reference to #Observation.referenceRange
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|Attachment 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|Attachment 
      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 #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 }], //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 12:
    "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
    "valueAttachment" : { Attachment }, // 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..*Observation
... observation-geneticsGene 0..1CodeableConceptHGNC gene symbol
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsGene
Binding: H g n c (preferred)
... 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 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: Common Languages (preferred)
Max Binding: All Languages
... text I0..1NarrativeText summary of the resource, for human interpretation
... contained 0..*ResourceContained, inline Resources
... extension I0..*ExtensionExtension
Slice: Unordered, Open by value:url
... observation-geneticsGene I0..1CodeableConceptHGNC gene symbol
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsGene
Binding: H g n c (preferred)
... observation-geneticsDNARegionName I0..1stringDNA region name
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsDNARegionName
... 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-geneticsInterpretation I0..1Reference(Observation)Clinical interpretations for variant
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsInterpretation
... observation-geneticsVariant I0..1(Complex)Variant
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsVariant
... observation-geneticsAminoAcidChange I0..1(Complex)AminoAcidChange
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChange
... observation-geneticsAllele I0..1(Complex)Allele
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAllele
... observation-geneticsAncestry I0..1(Complex)Ancestry
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAncestry
... observation-geneticsPhaseSet I0..*(Complex)Phase set
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsPhaseSet
... modifierExtension ?!I0..*ExtensionExtensions that cannot be ignored
... identifier ΣI0..*IdentifierBusiness Identifier for observation
... basedOn ΣI0..*Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest)Fulfills plan, proposal or order
... partOf ΣI0..*Reference(MedicationAdministration | MedicationDispense | MedicationUsage | Procedure | Immunization | ImagingStudy)Part of referenced event
... status ?!ΣI1..1coderegistered | preliminary | final | amended +
Binding: ObservationStatus (required)
... category I0..*CodeableConceptClassification of type of observation
Binding: Observation Category Codes (preferred)
... code ΣI1..1CodeableConceptType of observation (code / type)
Binding: LOINC Codes (example)
... subject ΣI0..1Reference(Patient | Group | Device | Location)Who and/or what the observation is about
... focus ΣI0..*Reference(Resource)What the observation is about, when it is not about the subject of record
... encounter ΣI0..1Reference(Encounter)Healthcare event during which this observation is made
... effective[x] ΣI0..1Clinically relevant time/time-period for observation
.... effectiveDateTimedateTime
.... effectivePeriodPeriod
.... effectiveTimingTiming
.... effectiveInstantinstant
... issued ΣI0..1instantDate/Time this version was made available
... performer ΣI0..*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
.... valueAttachmentAttachment
... dataAbsentReason I0..1CodeableConceptWhy the result is missing
Binding: DataAbsentReason (extensible)
... interpretation I0..*CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
... note I0..*AnnotationComments about the observation
... bodySite I0..1CodeableConceptObserved body part
Binding: SNOMED CT Body Structures (example)
... method I0..1CodeableConceptHow it was done
Binding: Observation Methods (example)
... specimen I0..1Reference(Specimen)Specimen used for this observation
... device I0..1Reference(Device | DeviceMetric)(Measurement) Device
... referenceRange I0..*BackboneElementProvides guide for interpretation
obs-3: Must have at least a low or a high or text
.... id 0..1idUnique id for inter-element referencing
.... extension I0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!ΣI0..*ExtensionExtensions that cannot be ignored even if unrecognized
.... low I0..1SimpleQuantityLow Range, if relevant
.... high I0..1SimpleQuantityHigh Range, if relevant
.... type I0..1CodeableConceptReference range qualifier
Binding: Observation Reference Range Meaning Codes (preferred)
.... appliesTo I0..*CodeableConceptReference range population
Binding: Observation Reference Range Applies To Codes (example)
.... age I0..1RangeApplicable age range, if relevant
.... text I0..1stringText based reference range in an observation
... hasMember ΣI0..*Reference(Observation | QuestionnaireResponse | MolecularSequence)Related resource that belongs to the Observation group
... derivedFrom ΣI0..*Reference(DocumentReference | ImagingStudy | QuestionnaireResponse | Observation | MolecularSequence)Related measurements the observation is made from
... component ΣI0..*BackboneElementComponent results
.... id 0..1idUnique id for inter-element referencing
.... extension I0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!ΣI0..*ExtensionExtensions that cannot be ignored even if unrecognized
.... code ΣI1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
.... value[x] ΣI0..1Actual component result
..... valueQuantityQuantity
..... valueCodeableConceptCodeableConcept
..... valueStringstring
..... valueBooleanboolean
..... valueIntegerinteger
..... valueRangeRange
..... valueRatioRatio
..... valueSampledDataSampledData
..... valueTimetime
..... valueDateTimedateTime
..... valuePeriodPeriod
..... valueAttachmentAttachment
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation I0..*CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange I0..*Unknown reference to #Observation.referenceRange
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|Attachment 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|Attachment 
      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 #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 }], //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 12:
    "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
    "valueAttachment" : { Attachment }, // 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

10.1.16.6.2 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

10.1.16.6.3 Constraints

Rule
IdPathDetailsRequirements
obs-3Observation.referenceRangeMust have at least a low or a high or text
Expression : low.exists() or high.exists() or text.exists()
.