Release 4 5 Preview #1

This page is part of the FHIR Specification (v4.0.1: R4 - Mixed Normative and STU ) in it's permanent home (it will always be available at this URL). (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

Orders and Observations Work Group   Maturity Level : 1 Trial 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).

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

This structure is derived from Observation .

Name Flags Card. Type Description & Constraints doco
. . Observation 0..* Observation
. . . observation-geneticsGene 0..1 CodeableConcept HGNC gene symbol
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsGene
Binding: H g n c ( preferred )
. . . observation-geneticsDNARegionName 0..1 string DNA region name
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsDNARegionName
. . . observation-geneticsCopyNumberEvent 0..1 CodeableConcept Copy number variation
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent
. . . observation-geneticsInterpretation 0..1 Reference ( 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
Name Flags Card. Type Description & Constraints doco
. . Observation I 0..* Observation Measurements and simple assertions
. . . id Σ 0..1 string id Logical id of this artifact
. . . meta Σ I 0..1 Meta Metadata about the resource
. . . implicitRules ?! Σ I 0..1 uri A set of rules under which this content was created
. . . language I 0..1 code Language of the resource content
Binding: Common Languages ( preferred )
Max Binding: All Languages
. . . text I 0..1 Narrative Text summary of the resource, for human interpretation
. . . contained 0..* Resource Contained, inline Resources
. . . extension I 0..* Extension Extension
Slice: Unordered, Open by value:url
. . . observation-geneticsGene I 0..1 CodeableConcept HGNC gene symbol
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsGene
Binding: H g n c ( preferred )
. . . observation-geneticsDNARegionName I 0..1 string DNA region name
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsDNARegionName
. . . observation-geneticsCopyNumberEvent I 0..1 CodeableConcept Copy number variation
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent
. . . observation-geneticsGenomicSourceClass I 0..1 CodeableConcept Genomic source class
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsGenomicSourceClass
. . . observation-geneticsInterpretation I 0..1 Reference ( Observation ) Clinical interpretations for variant
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsInterpretation
. . . observation-geneticsVariant I 0..1 (Complex) Variant
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsVariant
. . . observation-geneticsAminoAcidChange I 0..1 (Complex) AminoAcidChange
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChange
. . . observation-geneticsAllele I 0..1 (Complex) Allele
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAllele
. . . observation-geneticsAncestry I 0..1 (Complex) Ancestry
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAncestry
. . . observation-geneticsPhaseSet I 0..* (Complex) Phase set
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsPhaseSet
. . . modifierExtension ?! I 0..* Extension Extensions that cannot be ignored
. . . identifier Σ I 0..* Identifier Business Identifier for observation
. . . basedOn Σ I 0..* Reference ( CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest ) Fulfills plan, proposal or order
. . . partOf Σ I 0..* Reference ( MedicationAdministration | MedicationDispense | MedicationStatement MedicationUsage | Procedure | Immunization | ImagingStudy ) Part of referenced event
. . . status ?! Σ I 1..1 code registered | preliminary | final | amended +
Binding: ObservationStatus ( required )
. . . category I 0..* CodeableConcept Classification of type of observation
Binding: Observation Category Codes ( preferred )
. . . code Σ I 1..1 CodeableConcept Type of observation (code / type)
Binding: LOINC Codes ( example )
. . . subject Σ I 0..1 Reference ( Patient | Group | Device | Location ) Who and/or what the observation is about
. . . focus Σ I 0..* Reference ( Resource ) What the observation is about, when it is not about the subject of record
. . . encounter Σ I 0..1 Reference ( Encounter ) Healthcare event during which this observation is made
. . . effective[x] Σ I 0..1 Clinically relevant time/time-period for observation
. . . . effectiveDateTime dateTime
. . . . effectivePeriod Period
. . . . effectiveTiming Timing
. . . . effectiveInstant instant
. . . issued Σ I 0..1 instant Date/Time this version was made available
. . . performer Σ I 0..* Reference ( Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson ) Who is responsible for the observation
. . . value[x] Σ I 0..1 Actual result
. . . . valueQuantity Quantity
. . . . valueCodeableConcept CodeableConcept
. . . . valueString string
. . . . valueBoolean boolean
. . . . valueInteger integer
. . . . valueRange Range
. . . . valueRatio Ratio
. . . . valueSampledData SampledData
. . . . valueTime time
. . . . valueDateTime dateTime
. . . . valuePeriod Period
. . . . valueAttachment Attachment
... dataAbsentReason I 0..1 CodeableConcept Why the result is missing
Binding: DataAbsentReason ( extensible )
. . . interpretation I 0..* CodeableConcept High, low, normal, etc.
Binding: Observation Interpretation Codes ( extensible )
. . . note I 0..* Annotation Comments about the observation
. . . bodySite I 0..1 CodeableConcept Observed body part
Binding: SNOMED CT Body Structures ( example )
. . . method I 0..1 CodeableConcept How it was done
Binding: Observation Methods ( example )
. . . specimen I 0..1 Reference ( Specimen ) Specimen used for this observation
. . . device I 0..1 Reference ( Device | DeviceMetric ) (Measurement) Device
. . . referenceRange I 0..* BackboneElement Provides guide for interpretation
obs-3: Must have at least a low or a high or text
. . . . id 0..1 string id Unique id for inter-element referencing
. . . . extension I 0..* Extension Additional content defined by implementations
. . . . modifierExtension ?! Σ I 0..* Extension Extensions that cannot be ignored even if unrecognized
. . . . low I 0..1 SimpleQuantity Low Range, if relevant
. . . . high I 0..1 SimpleQuantity High Range, if relevant
. . . . type I 0..1 CodeableConcept Reference range qualifier
Binding: Observation Reference Range Meaning Codes ( preferred )
. . . . appliesTo I 0..* CodeableConcept Reference range population
Binding: Observation Reference Range Applies To Codes ( example )
. . . . age I 0..1 Range Applicable age range, if relevant
. . . . text I 0..1 string Text based reference range in an observation
. . . hasMember Σ I 0..* Reference ( Observation | QuestionnaireResponse | MolecularSequence ) Related resource that belongs to the Observation group
. . . derivedFrom Σ I 0..* Reference ( DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence ) Related measurements the observation is made from
. . . component Σ I 0..* BackboneElement Component results
. . . . id 0..1 string id Unique id for inter-element referencing
. . . . extension I 0..* Extension Additional content defined by implementations
. . . . modifierExtension ?! Σ I 0..* Extension Extensions that cannot be ignored even if unrecognized
. . . . code Σ I 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINC Codes ( example )
. . . . value[x] Σ I 0..1 Actual component result
. . . . . valueQuantity Quantity
..... valueCodeableConcept Quantity CodeableConcept
. . . . valueCodeableConcept . valueString CodeableConcept string
. . . . . valueString valueBoolean string boolean
. . . . . valueBoolean valueInteger boolean integer
. . . . valueInteger . valueRange integer Range
. . . . . valueRange valueRatio Range Ratio
. . . . . valueRatio valueSampledData Ratio SampledData
. . . . valueSampledData . valueTime SampledData time
. . . . . valueTime valueDateTime time dateTime
. . . . valueDateTime . valuePeriod dateTime Period
. . . . . valuePeriod valueAttachment Period Attachment
. . . . dataAbsentReason I 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason ( extensible )
. . . . interpretation I 0..* CodeableConcept High, low, normal, etc.
Binding: Observation Interpretation Codes ( extensible )
. . . . referenceRange I 0..* 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>

 <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|
   </value[x]>

   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 .

Name Flags Card. Type Description & Constraints doco
. . Observation 0..* Observation
. . . observation-geneticsGene 0..1 CodeableConcept HGNC gene symbol
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsGene
Binding: H g n c ( preferred )
. . . observation-geneticsDNARegionName 0..1 string DNA region name
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsDNARegionName
. . . observation-geneticsCopyNumberEvent 0..1 CodeableConcept Copy number variation
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent
. . . observation-geneticsInterpretation 0..1 Reference ( 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

Name Flags Card. Type Description & Constraints doco
. . Observation I 0..* Observation Measurements and simple assertions
. . . id Σ 0..1 string id Logical id of this artifact
. . . meta Σ I 0..1 Meta Metadata about the resource
. . . implicitRules ?! Σ I 0..1 uri A set of rules under which this content was created
. . . language I 0..1 code Language of the resource content
Binding: Common Languages ( preferred )
Max Binding: All Languages
. . . text I 0..1 Narrative Text summary of the resource, for human interpretation
. . . contained 0..* Resource Contained, inline Resources
. . . extension I 0..* Extension Extension
Slice: Unordered, Open by value:url
. . . observation-geneticsGene I 0..1 CodeableConcept HGNC gene symbol
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsGene
Binding: H g n c ( preferred )
. . . observation-geneticsDNARegionName I 0..1 string DNA region name
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsDNARegionName
. . . observation-geneticsCopyNumberEvent I 0..1 CodeableConcept Copy number variation
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsCopyNumberEvent
. . . observation-geneticsGenomicSourceClass I 0..1 CodeableConcept Genomic source class
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsGenomicSourceClass
. . . observation-geneticsInterpretation I 0..1 Reference ( Observation ) Clinical interpretations for variant
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsInterpretation
. . . observation-geneticsVariant I 0..1 (Complex) Variant
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsVariant
. . . observation-geneticsAminoAcidChange I 0..1 (Complex) AminoAcidChange
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAminoAcidChange
. . . observation-geneticsAllele I 0..1 (Complex) Allele
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAllele
. . . observation-geneticsAncestry I 0..1 (Complex) Ancestry
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsAncestry
. . . observation-geneticsPhaseSet I 0..* (Complex) Phase set
URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsPhaseSet
. . . modifierExtension ?! I 0..* Extension Extensions that cannot be ignored
. . . identifier Σ I 0..* Identifier Business Identifier for observation
. . . basedOn Σ I 0..* Reference ( CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest ) Fulfills plan, proposal or order
. . . partOf Σ I 0..* Reference ( MedicationAdministration | MedicationDispense | MedicationStatement MedicationUsage | Procedure | Immunization | ImagingStudy ) Part of referenced event
. . . status ?! Σ I 1..1 code registered | preliminary | final | amended +
Binding: ObservationStatus ( required )
. . . category I 0..* CodeableConcept Classification of type of observation
Binding: Observation Category Codes ( preferred )
. . . code Σ I 1..1 CodeableConcept Type of observation (code / type)
Binding: LOINC Codes ( example )
. . . subject Σ I 0..1 Reference ( Patient | Group | Device | Location ) Who and/or what the observation is about
. . . focus Σ I 0..* Reference ( Resource ) What the observation is about, when it is not about the subject of record
. . . encounter Σ I 0..1 Reference ( Encounter ) Healthcare event during which this observation is made
. . . effective[x] Σ I 0..1 Clinically relevant time/time-period for observation
. . . . effectiveDateTime dateTime
. . . . effectivePeriod Period
. . . . effectiveTiming Timing
. . . . effectiveInstant instant
. . . issued Σ I 0..1 instant Date/Time this version was made available
. . . performer Σ I 0..* Reference ( Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson ) Who is responsible for the observation
. . . value[x] Σ I 0..1 Actual result
. . . . valueQuantity Quantity
. . . . valueCodeableConcept CodeableConcept
. . . . valueString string
. . . . valueBoolean boolean
. . . . valueInteger integer
. . . . valueRange Range
. . . . valueRatio Ratio
. . . . valueSampledData SampledData
. . . . valueTime time
. . . . valueDateTime dateTime
. . . . valuePeriod Period
. . . . valueAttachment Attachment
... dataAbsentReason I 0..1 CodeableConcept Why the result is missing
Binding: DataAbsentReason ( extensible )
. . . interpretation I 0..* CodeableConcept High, low, normal, etc.
Binding: Observation Interpretation Codes ( extensible )
. . . note I 0..* Annotation Comments about the observation
. . . bodySite I 0..1 CodeableConcept Observed body part
Binding: SNOMED CT Body Structures ( example )
. . . method I 0..1 CodeableConcept How it was done
Binding: Observation Methods ( example )
. . . specimen I 0..1 Reference ( Specimen ) Specimen used for this observation
. . . device I 0..1 Reference ( Device | DeviceMetric ) (Measurement) Device
. . . referenceRange I 0..* BackboneElement Provides guide for interpretation
obs-3: Must have at least a low or a high or text
. . . . id 0..1 string id Unique id for inter-element referencing
. . . . extension I 0..* Extension Additional content defined by implementations
. . . . modifierExtension ?! Σ I 0..* Extension Extensions that cannot be ignored even if unrecognized
. . . . low I 0..1 SimpleQuantity Low Range, if relevant
. . . . high I 0..1 SimpleQuantity High Range, if relevant
. . . . type I 0..1 CodeableConcept Reference range qualifier
Binding: Observation Reference Range Meaning Codes ( preferred )
. . . . appliesTo I 0..* CodeableConcept Reference range population
Binding: Observation Reference Range Applies To Codes ( example )
. . . . age I 0..1 Range Applicable age range, if relevant
. . . . text I 0..1 string Text based reference range in an observation
. . . hasMember Σ I 0..* Reference ( Observation | QuestionnaireResponse | MolecularSequence ) Related resource that belongs to the Observation group
. . . derivedFrom Σ I 0..* Reference ( DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence ) Related measurements the observation is made from
. . . component Σ I 0..* BackboneElement Component results
. . . . id 0..1 string id Unique id for inter-element referencing
. . . . extension I 0..* Extension Additional content defined by implementations
. . . . modifierExtension ?! Σ I 0..* Extension Extensions that cannot be ignored even if unrecognized
. . . . code Σ I 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINC Codes ( example )
. . . . value[x] Σ I 0..1 Actual component result
. . . . . valueQuantity Quantity
..... valueCodeableConcept Quantity CodeableConcept
. . . . valueCodeableConcept . valueString CodeableConcept string
. . . . . valueString valueBoolean string boolean
. . . . . valueBoolean valueInteger boolean integer
. . . . valueInteger . valueRange integer Range
. . . . . valueRange valueRatio Range Ratio
. . . . . valueRatio valueSampledData Ratio SampledData
. . . . valueSampledData . valueTime SampledData time
. . . . . valueTime valueDateTime time dateTime
. . . . valueDateTime . valuePeriod dateTime Period
. . . . . valuePeriod valueAttachment Period Attachment
. . . . dataAbsentReason I 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason ( extensible )
. . . . interpretation I 0..* CodeableConcept High, low, normal, etc.
Binding: Observation Interpretation Codes ( extensible )
. . . . referenceRange I 0..* 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>

 <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|
   </value[x]>

   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

Path Name Conformance ValueSet
Observation.language Common Languages preferred Common Languages
Observation.status ObservationStatus required ObservationStatus
Observation.category Observation Category Codes preferred Observation Category Codes
Observation.code LOINC Codes example LOINC Codes
Observation.dataAbsentReason DataAbsentReason extensible DataAbsentReason
Observation.interpretation Observation Interpretation Codes extensible Observation Interpretation Codes
Observation.bodySite SNOMED CT Body Structures example SNOMED CT Body Structures
Observation.method Observation Methods example Observation Methods
Observation.referenceRange.type Observation Reference Range Meaning Codes preferred Observation Reference Range Meaning Codes
Observation.referenceRange.appliesTo Observation Reference Range Applies To Codes example Observation Reference Range Applies To Codes
Observation.component.code LOINC Codes example LOINC Codes
Observation.component.dataAbsentReason DataAbsentReason extensible DataAbsentReason
Observation.component.interpretation Observation Interpretation Codes extensible Observation Interpretation Codes
Rule
Id Path Details Requirements
obs-3 Observation.referenceRange Must have at least a low or a high or text
Expression : low.exists() or high.exists() or text.exists()
.