StructureDefinition: Observation-Genetics

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10.1.15.6 StructureDefinition: Observation-Genetics

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).

10.1.15.6.1 Formal Views of Profile Content

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

Text Summary
Differential Table
Snapshot Table
XML Template
JSON Template
All

This structure is derived from Observation.

Summary

Extensions

This structure refers to these extensions:

This structure is derived from Observation.

Name	Card.	Type	Description & Constraints
Observation	0..*
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-geneticsGenomicSourceClass	0..1	CodeableConcept	Genomic source class URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsGenomicSourceClass
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
Documentation for this format

Name	Flags	Card.	Type	Description & Constraints
Observation	I	0..*		Measurements and simple assertions
id	Σ	0..1	string	Logical id of this artifact
meta	ΣI	0..1	Meta	Metadata about the resource
implicitRules	?!ΣI	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	ΣI	0..*	Identifier	Business Identifier for observation
basedOn	ΣI	0..*	Reference(CarePlan \| DeviceRequest \| ImmunizationRecommendation \| MedicationRequest \| NutritionOrder \| ServiceRequest)	Fulfills plan, proposal or order
partOf	ΣI	0..*	Reference(MedicationAdministration \| MedicationDispense \| MedicationStatement \| Procedure \| Immunization \| ImagingStudy)	Part of referenced event
status	?!ΣI	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	ΣI	1..1	CodeableConcept	Type of observation (code / type) Binding: LOINC Codes (example)
subject	ΣI	0..1	Reference(Patient \| Group \| Device \| Location)	Who and/or what the observation is about
focus	ΣI	0..*	Reference(Resource)	What the observation is about, when it is not about the subject of record
encounter	ΣI	0..1	Reference(Encounter)	Healthcare event during which this observation is made
effective[x]	ΣI	0..1		Clinically relevant time/time-period for observation
effectiveDateTime			dateTime
effectivePeriod			Period
effectiveTiming			Timing
effectiveInstant			instant
issued	ΣI	0..1	instant	Date/Time this version was made available
performer	ΣI	0..*	Reference(Practitioner \| PractitionerRole \| Organization \| CareTeam \| Patient \| RelatedPerson)	Who is responsible for the observation
value[x]	ΣI	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
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	Unique id for inter-element referencing
extension	I	0..*	Extension	Additional content defined by implementations
modifierExtension	?!ΣI	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	ΣI	0..*	Reference(Observation \| QuestionnaireResponse \| MolecularSequence)	Related resource that belongs to the Observation group
derivedFrom	ΣI	0..*	Reference(DocumentReference \| ImagingStudy \| Media \| QuestionnaireResponse \| Observation \| MolecularSequence)	Related measurements the observation is made from
component	ΣI	0..*	BackboneElement	Component results
id		0..1	string	Unique id for inter-element referencing
extension	I	0..*	Extension	Additional content defined by implementations
modifierExtension	?!ΣI	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	ΣI	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINC Codes (example)
value[x]	ΣI	0..1		Actual component result
valueQuantity			Quantity
valueCodeableConcept			CodeableConcept
valueString			string
valueBoolean			boolean
valueInteger			integer
valueRange			Range
valueRatio			Ratio
valueSampledData			SampledData
valueTime			time
valueDateTime			dateTime
valuePeriod			Period
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
Documentation for this format

<!-- Observation-genetics -->

<Observation xmlns="http://hl7.org/fhir"
>
  <!-- from Element: extension -->
 <id><!-- 0..1 string Logical id of this artifact --></id>
 <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 #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 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
  }

This structure is derived from Observation.

Summary

Extensions

This structure refers to these extensions:

Differential View

This structure is derived from Observation.

Name	Card.	Type	Description & Constraints
Observation	0..*
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-geneticsGenomicSourceClass	0..1	CodeableConcept	Genomic source class URL: http://hl7.org/fhir/StructureDefinition/observation-geneticsGenomicSourceClass
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
Documentation for this format

Snapshot View

Name	Flags	Card.	Type	Description & Constraints
Observation	I	0..*		Measurements and simple assertions
id	Σ	0..1	string	Logical id of this artifact
meta	ΣI	0..1	Meta	Metadata about the resource
implicitRules	?!ΣI	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	ΣI	0..*	Identifier	Business Identifier for observation
basedOn	ΣI	0..*	Reference(CarePlan \| DeviceRequest \| ImmunizationRecommendation \| MedicationRequest \| NutritionOrder \| ServiceRequest)	Fulfills plan, proposal or order
partOf	ΣI	0..*	Reference(MedicationAdministration \| MedicationDispense \| MedicationStatement \| Procedure \| Immunization \| ImagingStudy)	Part of referenced event
status	?!ΣI	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	ΣI	1..1	CodeableConcept	Type of observation (code / type) Binding: LOINC Codes (example)
subject	ΣI	0..1	Reference(Patient \| Group \| Device \| Location)	Who and/or what the observation is about
focus	ΣI	0..*	Reference(Resource)	What the observation is about, when it is not about the subject of record
encounter	ΣI	0..1	Reference(Encounter)	Healthcare event during which this observation is made
effective[x]	ΣI	0..1		Clinically relevant time/time-period for observation
effectiveDateTime			dateTime
effectivePeriod			Period
effectiveTiming			Timing
effectiveInstant			instant
issued	ΣI	0..1	instant	Date/Time this version was made available
performer	ΣI	0..*	Reference(Practitioner \| PractitionerRole \| Organization \| CareTeam \| Patient \| RelatedPerson)	Who is responsible for the observation
value[x]	ΣI	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
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	Unique id for inter-element referencing
extension	I	0..*	Extension	Additional content defined by implementations
modifierExtension	?!ΣI	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	ΣI	0..*	Reference(Observation \| QuestionnaireResponse \| MolecularSequence)	Related resource that belongs to the Observation group
derivedFrom	ΣI	0..*	Reference(DocumentReference \| ImagingStudy \| Media \| QuestionnaireResponse \| Observation \| MolecularSequence)	Related measurements the observation is made from
component	ΣI	0..*	BackboneElement	Component results
id		0..1	string	Unique id for inter-element referencing
extension	I	0..*	Extension	Additional content defined by implementations
modifierExtension	?!ΣI	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	ΣI	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINC Codes (example)
value[x]	ΣI	0..1		Actual component result
valueQuantity			Quantity
valueCodeableConcept			CodeableConcept
valueString			string
valueBoolean			boolean
valueInteger			integer
valueRange			Range
valueRatio			Ratio
valueSampledData			SampledData
valueTime			time
valueDateTime			dateTime
valuePeriod			Period
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
Documentation for this format

XML Template

<!-- Observation-genetics -->

<Observation xmlns="http://hl7.org/fhir"
>
  <!-- from Element: extension -->
 <id><!-- 0..1 string Logical id of this artifact --></id>
 <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 #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 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

10.1.15.6.2 Terminology Bindings

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

10.1.15.6.3 Constraints

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()