Usage

This profile identifies a specific region analyzed for gene mutations or variants in a given genomic test. For example, exome sequencing tests could analyze multiple non-contiguous regions. Each region is designated by a range of start and end location and referencing a coordinate system which is 0-based or 1-based.

RegionStudied is noted at the GenomicsReport level and not directly tied to a given GenomicVariant.

Conformance

Observation resources associated with an in-scope patient with DiagnosticReport.code LOINC 53041-0 SHALL conform to this profile. Beyond this requirement, a producer of resources SHOULD ensure that any resource instance associated with an in-scope patient that would reasonably be expected to conform to this profile SHOULD be published in this form.

Changes since version true:

• Differential Table
• Key Elements Table
• Snapshot Table
• Statistics/References
• All

This structure is derived from RegionStudied

Name	Flags	Card.	Type	Description & Constraints
Observation		0..*	RegionStudied	Region Studied
status	S	1..1	code	registered | preliminary | final | amended +
category	S	1..*	CodeableConcept	Classification of type of observation
category:labCategory		1..1	CodeableConcept	Classification of type of observation Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
code		1..1	code	Symbol in syntax defined by the system Fixed Value: laboratory
coding		1..1	Coding	Code defined by a terminology system
code	S	1..1	CodeableConcept	53041-0
subject	S	1..1	Reference(Cancer Patient Profile)	Who and/or what the observation is about
Slices for effective[x]	S	0..1	dateTime, Period, Timing, instant	Clinically relevant time/time-period for observation Slice: Unordered, Open by type:$this
effective[x]:effectiveDateTime	S	0..1	dateTime	Clinically relevant time/time-period for observation
value[x]		0..0	Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period
dataAbsentReason	S	0..1	CodeableConcept	Why the result is missing
component	S	0..*	BackboneElement	Component results
component:gene-studied	S	0..1	BackboneElement	Gene Studied
code	S	1..1	CodeableConcept	48018-6
value[x]	S	1..1	CodeableConcept	The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used.
component:gene-mutations	S	0..1	BackboneElement	Gene Mutations ID
code	S	1..1	CodeableConcept	36908-2
value[x]	S	1..1	CodeableConcept	Actual component result
component:region-description	S	0..1	BackboneElement	Region Description
code	S	1..1	CodeableConcept	81293-3
value[x]	S	0..1	string	Actual component result
component:ranges-examined	S	0..*	BackboneElement	Range(s) of DNA sequence examined
code	S	1..1	CodeableConcept	51959-5
value[x]	S	0..1	Range	Actual component result
component:coordinate-system	S	0..1	BackboneElement	Coordinate System
code	S	1..1	CodeableConcept	92822-6
value[x]	S	1..1	CodeableConcept	0-based interval counting | 0-based character counting | 1-based character counting
component:genomic-ref-seq	S	0..1	BackboneElement	Genomic Reference Sequence
code	S	1..1	CodeableConcept	48013-7
value[x]	S	1..1	CodeableConcept	Versioned genomic reference sequence identifier.
Documentation for this format

Name	Flags	Card.	Type	Description & Constraints
Observation	C	0..*	RegionStudied	Region Studied obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created
secondary-finding		0..1	CodeableConcept	Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement. For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings URL: http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding Binding: GeneticObservationSecondaryFindings (extensible): Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding.
body-structure		0..1	Reference(BodyStructure)	Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite
modifierExtension	?!	0..*	Extension	Extensions that cannot be ignored
status	?!SΣ	1..1	code	registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
Slices for category	S	1..*	CodeableConcept	Classification of type of observation Slice: Unordered, Open by value:coding Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
category:labCategory		1..1	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
code		1..1	code	Symbol in syntax defined by the system Fixed Value: laboratory
coding	Σ	1..1	Coding	Code defined by a terminology system Required Pattern: At least the following
system		1..1	uri	Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
code		1..1	code	Symbol in syntax defined by the system Fixed Value: laboratory
code	SΣ	1..1	CodeableConcept	53041-0 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 53041-0
subject	SΣ	1..1	Reference(Cancer Patient Profile)	Who and/or what the observation is about
Slices for effective[x]	SΣ	0..1		Clinically relevant time/time-period for observation Slice: Unordered, Open by type:$this
effectiveDateTime			dateTime
effectivePeriod			Period
effectiveTiming			Timing
effectiveInstant			instant
effective[x]:effectiveDateTime	SΣ	0..1	dateTime	Clinically relevant time/time-period for observation
dataAbsentReason	SC	0..1	CodeableConcept	Why the result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
Slices for component	SΣ	0..*	BackboneElement	Component results Slice: Unordered, Open by pattern:code
component:All Slices				Content/Rules for all slices
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
component:conclusion-string	Σ	0..1	BackboneElement	Clinical Conclusion
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	conclusion-string Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
code		1..1	code	Symbol in syntax defined by the system Fixed Value: conclusion-string
component:gene-studied	SΣ	0..1	BackboneElement	Gene Studied
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	SΣ	1..1	CodeableConcept	48018-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48018-6
value[x]	SΣ	1..1	CodeableConcept	The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible)
component:gene-mutations	SΣ	0..1	BackboneElement	Gene Mutations ID
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	SΣ	1..1	CodeableConcept	36908-2 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 36908-2
value[x]	SΣ	1..1	CodeableConcept	Actual component result Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
component:region-description	SΣ	0..1	BackboneElement	Region Description
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	SΣ	1..1	CodeableConcept	81293-3 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81293-3
value[x]	SΣ	0..1	string	Actual component result
component:region-coverage	Σ	0..1	BackboneElement	Region Coverage
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	region-coverage Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
code		1..1	code	Symbol in syntax defined by the system Fixed Value: region-coverage
component:ranges-examined	SΣ	0..*	BackboneElement	Range(s) of DNA sequence examined
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	SΣ	1..1	CodeableConcept	51959-5 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 51959-5
value[x]	SΣ	0..1	Range	Actual component result
component:coordinate-system	SΣ	0..1	BackboneElement	Coordinate System
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	SΣ	1..1	CodeableConcept	92822-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 92822-6
value[x]	SΣ	1..1	CodeableConcept	0-based interval counting | 0-based character counting | 1-based character counting Binding: LOINC Answer List LL5323-2 (extensible)
component:genomic-ref-seq	SΣ	0..1	BackboneElement	Genomic Reference Sequence
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	SΣ	1..1	CodeableConcept	48013-7 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48013-7
value[x]	SΣ	1..1	CodeableConcept	Versioned genomic reference sequence identifier. Binding: (unbound) (example): Multiple bindings acceptable (NCBI or LRG)
component:uncallable-regions	Σ	0..*	BackboneElement	Uncallable Sub-regions
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	uncallable-regions Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
code		1..1	code	Symbol in syntax defined by the system Fixed Value: uncallable-regions
Documentation for this format

Terminology Bindings

Path	Conformance	ValueSet / Code	URI
Observation.status	required	ObservationStatus http://hl7.org/fhir/ValueSet/observation-status|4.0.1 from the FHIR Standard
Observation.category	preferred	ObservationCategoryCodes http://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard
Observation.category:labCategory	preferred	Pattern: laboratory http://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard
Observation.code	example	Pattern: LOINC code 53041-0 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component.code	example	LOINCCodes (a valid code from LOINC) http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:conclusion-string.code	example	Pattern: conclusion-string http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:gene-studied.code	example	Pattern: LOINC code 48018-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:gene-studied.value[x]	extensible	HGNCVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs
Observation.component:gene-mutations.code	example	Pattern: LOINC code 36908-2 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:gene-mutations.value[x]	required	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:region-description.code	example	Pattern: LOINC code 81293-3 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:region-coverage.code	example	Pattern: region-coverage http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:ranges-examined.code	example	Pattern: LOINC code 51959-5 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:coordinate-system.code	example	Pattern: LOINC code 92822-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:coordinate-system.value[x]	extensible	LOINC LL5323-2 http://loinc.org/vs/LL5323-2
Observation.component:genomic-ref-seq.code	example	Pattern: LOINC code 48013-7 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:genomic-ref-seq.value[x]	example
Observation.component:uncallable-regions.code	example	Pattern: uncallable-regions http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard

Name	Flags	Card.	Type	Description & Constraints
Observation	C	0..*	RegionStudied	Region Studied obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present
id	Σ	0..1	id	Logical id of this artifact
meta	Σ	0..1	Meta	Metadata about the resource
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created
language		0..1	code	Language of the resource content Binding: CommonLanguages (preferred): A human language. Additional Bindings Purpose AllLanguages Max Binding
text		0..1	Narrative	Text summary of the resource, for human interpretation
contained		0..*	Resource	Contained, inline Resources
Slices for extension		0..*	Extension	Extension Slice: Unordered, Open by value:url
secondary-finding		0..1	CodeableConcept	Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement. For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings URL: http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding Binding: GeneticObservationSecondaryFindings (extensible): Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding.
body-structure		0..1	Reference(BodyStructure)	Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite
modifierExtension	?!	0..*	Extension	Extensions that cannot be ignored
identifier	Σ	0..*	Identifier	Business Identifier for observation
basedOn	Σ	0..*	Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest)	Fulfills plan, proposal or order
partOf	Σ	0..*	Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy)	Part of referenced event
status	?!SΣ	1..1	code	registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
Slices for category	S	1..*	CodeableConcept	Classification of type of observation Slice: Unordered, Open by value:coding Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
category:labCategory		1..1	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: laboratory
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	1..1	Coding	Code defined by a terminology system Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: laboratory
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text	Σ	0..1	string	Plain text representation of the concept
code	SΣ	1..1	CodeableConcept	53041-0 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 53041-0
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
subject	SΣ	1..1	Reference(Cancer Patient Profile)	Who and/or what the observation is about
focus	Σ	0..*	Reference(Resource)	What the observation is about, when it is not about the subject of record
encounter	Σ	0..1	Reference(Encounter)	Healthcare event during which this observation is made
Slices for effective[x]	SΣ	0..1		Clinically relevant time/time-period for observation Slice: Unordered, Open by type:$this
effectiveDateTime			dateTime
effectivePeriod			Period
effectiveTiming			Timing
effectiveInstant			instant
effective[x]:effectiveDateTime	SΣ	0..1	dateTime	Clinically relevant time/time-period for observation
issued	Σ	0..1	instant	Date/Time this version was made available
performer	Σ	0..*	Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson)	Who is responsible for the observation
dataAbsentReason	SC	0..1	CodeableConcept	Why the result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
note		0..*	CodedAnnotation	Comments about the Observation that also contain a coded type
bodySite		0..1	CodeableConcept	Observed body part Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.
method		0..1	CodeableConcept	How it was done Binding: ObservationMethods (example): Methods for simple observations.
specimen		0..1	Reference(Specimen)	Specimen used for this observation
device		0..1	Reference(Device | DeviceMetric)	(Measurement) Device
referenceRange	C	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		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
low	C	0..1	SimpleQuantity	Low Range, if relevant
high	C	0..1	SimpleQuantity	High Range, if relevant
type		0..1	CodeableConcept	Reference range qualifier Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range.
appliesTo		0..*	CodeableConcept	Reference range population Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to.
age		0..1	Range	Applicable age range, if relevant
text		0..1	string	Text based reference range in an observation
hasMember	Σ	0..*	Reference(Observation | QuestionnaireResponse | MolecularSequence)	Related resource that belongs to the Observation group
derivedFrom	Σ	0..*	Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence)	Related measurements the observation is made from
Slices for component	SΣ	0..*	BackboneElement	Component results Slice: Unordered, Open by pattern:code
component:All Slices				Content/Rules for all slices
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
value[x]	Σ	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	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:conclusion-string	Σ	0..1	BackboneElement	Clinical Conclusion
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	conclusion-string Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: conclusion-string
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	0..1	string	Summary conclusion (interpretation/impression)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:gene-studied	SΣ	0..1	BackboneElement	Gene Studied
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	SΣ	1..1	CodeableConcept	48018-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48018-6
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	SΣ	1..1	CodeableConcept	The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:gene-mutations	SΣ	0..1	BackboneElement	Gene Mutations ID
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	SΣ	1..1	CodeableConcept	36908-2 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 36908-2
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	SΣ	1..1	CodeableConcept	Actual component result Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:region-description	SΣ	0..1	BackboneElement	Region Description
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	SΣ	1..1	CodeableConcept	81293-3 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81293-3
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	SΣ	0..1	string	Actual component result
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:region-coverage	Σ	0..1	BackboneElement	Region Coverage
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	region-coverage Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: region-coverage
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	0..1	Quantity	Actual component result
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:ranges-examined	SΣ	0..*	BackboneElement	Range(s) of DNA sequence examined
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	SΣ	1..1	CodeableConcept	51959-5 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 51959-5
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	SΣ	0..1	Range	Actual component result
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:coordinate-system	SΣ	0..1	BackboneElement	Coordinate System
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	SΣ	1..1	CodeableConcept	92822-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 92822-6
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	SΣ	1..1	CodeableConcept	0-based interval counting | 0-based character counting | 1-based character counting Binding: LOINC Answer List LL5323-2 (extensible)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:genomic-ref-seq	SΣ	0..1	BackboneElement	Genomic Reference Sequence
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	SΣ	1..1	CodeableConcept	48013-7 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48013-7
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	SΣ	1..1	CodeableConcept	Versioned genomic reference sequence identifier. Binding: (unbound) (example): Multiple bindings acceptable (NCBI or LRG)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:uncallable-regions	Σ	0..*	BackboneElement	Uncallable Sub-regions
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	uncallable-regions Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: uncallable-regions
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	0..1	Range	Must be inside the range given by 'ranges examined' in the given reference sequence and coordinate system.
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
Documentation for this format

Terminology Bindings

Path	Conformance	ValueSet / Code	URI
Observation.language	preferred	CommonLanguages Additional Bindings Purpose AllLanguages Max Binding http://hl7.org/fhir/ValueSet/languages from the FHIR Standard
Observation.status	required	ObservationStatus http://hl7.org/fhir/ValueSet/observation-status|4.0.1 from the FHIR Standard
Observation.category	preferred	ObservationCategoryCodes http://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard
Observation.category:labCategory	preferred	Pattern: laboratory http://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard
Observation.code	example	Pattern: LOINC code 53041-0 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.bodySite	example	SNOMEDCTBodyStructures http://hl7.org/fhir/ValueSet/body-site from the FHIR Standard
Observation.method	example	ObservationMethods http://hl7.org/fhir/ValueSet/observation-methods from the FHIR Standard
Observation.referenceRange.type	preferred	ObservationReferenceRangeMeaningCodes http://hl7.org/fhir/ValueSet/referencerange-meaning from the FHIR Standard
Observation.referenceRange.appliesTo	example	ObservationReferenceRangeAppliesToCodes http://hl7.org/fhir/ValueSet/referencerange-appliesto from the FHIR Standard
Observation.component.code	example	LOINCCodes (a valid code from LOINC) http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:conclusion-string.code	example	Pattern: conclusion-string http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:conclusion-string.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:conclusion-string.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:gene-studied.code	example	Pattern: LOINC code 48018-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:gene-studied.value[x]	extensible	HGNCVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs
Observation.component:gene-studied.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:gene-studied.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:gene-mutations.code	example	Pattern: LOINC code 36908-2 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:gene-mutations.value[x]	required	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:gene-mutations.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:gene-mutations.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:region-description.code	example	Pattern: LOINC code 81293-3 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:region-description.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:region-description.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:region-coverage.code	example	Pattern: region-coverage http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:region-coverage.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:region-coverage.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:ranges-examined.code	example	Pattern: LOINC code 51959-5 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:ranges-examined.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:ranges-examined.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:coordinate-system.code	example	Pattern: LOINC code 92822-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:coordinate-system.value[x]	extensible	LOINC LL5323-2 http://loinc.org/vs/LL5323-2
Observation.component:coordinate-system.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:coordinate-system.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:genomic-ref-seq.code	example	Pattern: LOINC code 48013-7 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:genomic-ref-seq.value[x]	example
Observation.component:genomic-ref-seq.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:genomic-ref-seq.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:uncallable-regions.code	example	Pattern: uncallable-regions http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:uncallable-regions.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:uncallable-regions.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard

Differential View

This structure is derived from RegionStudied

Name	Flags	Card.	Type	Description & Constraints
Observation		0..*	RegionStudied	Region Studied
status	S	1..1	code	registered | preliminary | final | amended +
category	S	1..*	CodeableConcept	Classification of type of observation
category:labCategory		1..1	CodeableConcept	Classification of type of observation Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
code		1..1	code	Symbol in syntax defined by the system Fixed Value: laboratory
coding		1..1	Coding	Code defined by a terminology system
code	S	1..1	CodeableConcept	53041-0
subject	S	1..1	Reference(Cancer Patient Profile)	Who and/or what the observation is about
Slices for effective[x]	S	0..1	dateTime, Period, Timing, instant	Clinically relevant time/time-period for observation Slice: Unordered, Open by type:$this
effective[x]:effectiveDateTime	S	0..1	dateTime	Clinically relevant time/time-period for observation
value[x]		0..0	Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period
dataAbsentReason	S	0..1	CodeableConcept	Why the result is missing
component	S	0..*	BackboneElement	Component results
component:gene-studied	S	0..1	BackboneElement	Gene Studied
code	S	1..1	CodeableConcept	48018-6
value[x]	S	1..1	CodeableConcept	The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used.
component:gene-mutations	S	0..1	BackboneElement	Gene Mutations ID
code	S	1..1	CodeableConcept	36908-2
value[x]	S	1..1	CodeableConcept	Actual component result
component:region-description	S	0..1	BackboneElement	Region Description
code	S	1..1	CodeableConcept	81293-3
value[x]	S	0..1	string	Actual component result
component:ranges-examined	S	0..*	BackboneElement	Range(s) of DNA sequence examined
code	S	1..1	CodeableConcept	51959-5
value[x]	S	0..1	Range	Actual component result
component:coordinate-system	S	0..1	BackboneElement	Coordinate System
code	S	1..1	CodeableConcept	92822-6
value[x]	S	1..1	CodeableConcept	0-based interval counting | 0-based character counting | 1-based character counting
component:genomic-ref-seq	S	0..1	BackboneElement	Genomic Reference Sequence
code	S	1..1	CodeableConcept	48013-7
value[x]	S	1..1	CodeableConcept	Versioned genomic reference sequence identifier.
Documentation for this format

Key Elements View

Name	Flags	Card.	Type	Description & Constraints
Observation	C	0..*	RegionStudied	Region Studied obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created
secondary-finding		0..1	CodeableConcept	Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement. For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings URL: http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding Binding: GeneticObservationSecondaryFindings (extensible): Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding.
body-structure		0..1	Reference(BodyStructure)	Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite
modifierExtension	?!	0..*	Extension	Extensions that cannot be ignored
status	?!SΣ	1..1	code	registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
Slices for category	S	1..*	CodeableConcept	Classification of type of observation Slice: Unordered, Open by value:coding Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
category:labCategory		1..1	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
code		1..1	code	Symbol in syntax defined by the system Fixed Value: laboratory
coding	Σ	1..1	Coding	Code defined by a terminology system Required Pattern: At least the following
system		1..1	uri	Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
code		1..1	code	Symbol in syntax defined by the system Fixed Value: laboratory
code	SΣ	1..1	CodeableConcept	53041-0 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 53041-0
subject	SΣ	1..1	Reference(Cancer Patient Profile)	Who and/or what the observation is about
Slices for effective[x]	SΣ	0..1		Clinically relevant time/time-period for observation Slice: Unordered, Open by type:$this
effectiveDateTime			dateTime
effectivePeriod			Period
effectiveTiming			Timing
effectiveInstant			instant
effective[x]:effectiveDateTime	SΣ	0..1	dateTime	Clinically relevant time/time-period for observation
dataAbsentReason	SC	0..1	CodeableConcept	Why the result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
Slices for component	SΣ	0..*	BackboneElement	Component results Slice: Unordered, Open by pattern:code
component:All Slices				Content/Rules for all slices
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
component:conclusion-string	Σ	0..1	BackboneElement	Clinical Conclusion
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	conclusion-string Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
code		1..1	code	Symbol in syntax defined by the system Fixed Value: conclusion-string
component:gene-studied	SΣ	0..1	BackboneElement	Gene Studied
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	SΣ	1..1	CodeableConcept	48018-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48018-6
value[x]	SΣ	1..1	CodeableConcept	The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible)
component:gene-mutations	SΣ	0..1	BackboneElement	Gene Mutations ID
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	SΣ	1..1	CodeableConcept	36908-2 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 36908-2
value[x]	SΣ	1..1	CodeableConcept	Actual component result Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
component:region-description	SΣ	0..1	BackboneElement	Region Description
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	SΣ	1..1	CodeableConcept	81293-3 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81293-3
value[x]	SΣ	0..1	string	Actual component result
component:region-coverage	Σ	0..1	BackboneElement	Region Coverage
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	region-coverage Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
code		1..1	code	Symbol in syntax defined by the system Fixed Value: region-coverage
component:ranges-examined	SΣ	0..*	BackboneElement	Range(s) of DNA sequence examined
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	SΣ	1..1	CodeableConcept	51959-5 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 51959-5
value[x]	SΣ	0..1	Range	Actual component result
component:coordinate-system	SΣ	0..1	BackboneElement	Coordinate System
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	SΣ	1..1	CodeableConcept	92822-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 92822-6
value[x]	SΣ	1..1	CodeableConcept	0-based interval counting | 0-based character counting | 1-based character counting Binding: LOINC Answer List LL5323-2 (extensible)
component:genomic-ref-seq	SΣ	0..1	BackboneElement	Genomic Reference Sequence
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	SΣ	1..1	CodeableConcept	48013-7 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48013-7
value[x]	SΣ	1..1	CodeableConcept	Versioned genomic reference sequence identifier. Binding: (unbound) (example): Multiple bindings acceptable (NCBI or LRG)
component:uncallable-regions	Σ	0..*	BackboneElement	Uncallable Sub-regions
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	uncallable-regions Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
code		1..1	code	Symbol in syntax defined by the system Fixed Value: uncallable-regions
Documentation for this format

Terminology Bindings

Path	Conformance	ValueSet / Code	URI
Observation.status	required	ObservationStatus http://hl7.org/fhir/ValueSet/observation-status|4.0.1 from the FHIR Standard
Observation.category	preferred	ObservationCategoryCodes http://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard
Observation.category:labCategory	preferred	Pattern: laboratory http://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard
Observation.code	example	Pattern: LOINC code 53041-0 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component.code	example	LOINCCodes (a valid code from LOINC) http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:conclusion-string.code	example	Pattern: conclusion-string http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:gene-studied.code	example	Pattern: LOINC code 48018-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:gene-studied.value[x]	extensible	HGNCVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs
Observation.component:gene-mutations.code	example	Pattern: LOINC code 36908-2 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:gene-mutations.value[x]	required	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:region-description.code	example	Pattern: LOINC code 81293-3 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:region-coverage.code	example	Pattern: region-coverage http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:ranges-examined.code	example	Pattern: LOINC code 51959-5 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:coordinate-system.code	example	Pattern: LOINC code 92822-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:coordinate-system.value[x]	extensible	LOINC LL5323-2 http://loinc.org/vs/LL5323-2
Observation.component:genomic-ref-seq.code	example	Pattern: LOINC code 48013-7 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:genomic-ref-seq.value[x]	example
Observation.component:uncallable-regions.code	example	Pattern: uncallable-regions http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard

Snapshot View

Name	Flags	Card.	Type	Description & Constraints
Observation	C	0..*	RegionStudied	Region Studied obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present
id	Σ	0..1	id	Logical id of this artifact
meta	Σ	0..1	Meta	Metadata about the resource
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created
language		0..1	code	Language of the resource content Binding: CommonLanguages (preferred): A human language. Additional Bindings Purpose AllLanguages Max Binding
text		0..1	Narrative	Text summary of the resource, for human interpretation
contained		0..*	Resource	Contained, inline Resources
Slices for extension		0..*	Extension	Extension Slice: Unordered, Open by value:url
secondary-finding		0..1	CodeableConcept	Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement. For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings URL: http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding Binding: GeneticObservationSecondaryFindings (extensible): Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding.
body-structure		0..1	Reference(BodyStructure)	Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite
modifierExtension	?!	0..*	Extension	Extensions that cannot be ignored
identifier	Σ	0..*	Identifier	Business Identifier for observation
basedOn	Σ	0..*	Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest)	Fulfills plan, proposal or order
partOf	Σ	0..*	Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy)	Part of referenced event
status	?!SΣ	1..1	code	registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
Slices for category	S	1..*	CodeableConcept	Classification of type of observation Slice: Unordered, Open by value:coding Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
category:labCategory		1..1	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: laboratory
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	1..1	Coding	Code defined by a terminology system Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: laboratory
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text	Σ	0..1	string	Plain text representation of the concept
code	SΣ	1..1	CodeableConcept	53041-0 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 53041-0
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
subject	SΣ	1..1	Reference(Cancer Patient Profile)	Who and/or what the observation is about
focus	Σ	0..*	Reference(Resource)	What the observation is about, when it is not about the subject of record
encounter	Σ	0..1	Reference(Encounter)	Healthcare event during which this observation is made
Slices for effective[x]	SΣ	0..1		Clinically relevant time/time-period for observation Slice: Unordered, Open by type:$this
effectiveDateTime			dateTime
effectivePeriod			Period
effectiveTiming			Timing
effectiveInstant			instant
effective[x]:effectiveDateTime	SΣ	0..1	dateTime	Clinically relevant time/time-period for observation
issued	Σ	0..1	instant	Date/Time this version was made available
performer	Σ	0..*	Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson)	Who is responsible for the observation
dataAbsentReason	SC	0..1	CodeableConcept	Why the result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
note		0..*	CodedAnnotation	Comments about the Observation that also contain a coded type
bodySite		0..1	CodeableConcept	Observed body part Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.
method		0..1	CodeableConcept	How it was done Binding: ObservationMethods (example): Methods for simple observations.
specimen		0..1	Reference(Specimen)	Specimen used for this observation
device		0..1	Reference(Device | DeviceMetric)	(Measurement) Device
referenceRange	C	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		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
low	C	0..1	SimpleQuantity	Low Range, if relevant
high	C	0..1	SimpleQuantity	High Range, if relevant
type		0..1	CodeableConcept	Reference range qualifier Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range.
appliesTo		0..*	CodeableConcept	Reference range population Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to.
age		0..1	Range	Applicable age range, if relevant
text		0..1	string	Text based reference range in an observation
hasMember	Σ	0..*	Reference(Observation | QuestionnaireResponse | MolecularSequence)	Related resource that belongs to the Observation group
derivedFrom	Σ	0..*	Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence)	Related measurements the observation is made from
Slices for component	SΣ	0..*	BackboneElement	Component results Slice: Unordered, Open by pattern:code
component:All Slices				Content/Rules for all slices
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
value[x]	Σ	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	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:conclusion-string	Σ	0..1	BackboneElement	Clinical Conclusion
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	conclusion-string Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: conclusion-string
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	0..1	string	Summary conclusion (interpretation/impression)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:gene-studied	SΣ	0..1	BackboneElement	Gene Studied
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	SΣ	1..1	CodeableConcept	48018-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48018-6
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	SΣ	1..1	CodeableConcept	The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:gene-mutations	SΣ	0..1	BackboneElement	Gene Mutations ID
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	SΣ	1..1	CodeableConcept	36908-2 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 36908-2
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	SΣ	1..1	CodeableConcept	Actual component result Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:region-description	SΣ	0..1	BackboneElement	Region Description
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	SΣ	1..1	CodeableConcept	81293-3 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81293-3
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	SΣ	0..1	string	Actual component result
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:region-coverage	Σ	0..1	BackboneElement	Region Coverage
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	region-coverage Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: region-coverage
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	0..1	Quantity	Actual component result
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:ranges-examined	SΣ	0..*	BackboneElement	Range(s) of DNA sequence examined
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	SΣ	1..1	CodeableConcept	51959-5 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 51959-5
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	SΣ	0..1	Range	Actual component result
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:coordinate-system	SΣ	0..1	BackboneElement	Coordinate System
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	SΣ	1..1	CodeableConcept	92822-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 92822-6
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	SΣ	1..1	CodeableConcept	0-based interval counting | 0-based character counting | 1-based character counting Binding: LOINC Answer List LL5323-2 (extensible)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:genomic-ref-seq	SΣ	0..1	BackboneElement	Genomic Reference Sequence
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	SΣ	1..1	CodeableConcept	48013-7 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48013-7
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	SΣ	1..1	CodeableConcept	Versioned genomic reference sequence identifier. Binding: (unbound) (example): Multiple bindings acceptable (NCBI or LRG)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:uncallable-regions	Σ	0..*	BackboneElement	Uncallable Sub-regions
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	uncallable-regions Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: uncallable-regions
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	0..1	Range	Must be inside the range given by 'ranges examined' in the given reference sequence and coordinate system.
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
Documentation for this format

Terminology Bindings

Path	Conformance	ValueSet / Code	URI
Observation.language	preferred	CommonLanguages Additional Bindings Purpose AllLanguages Max Binding http://hl7.org/fhir/ValueSet/languages from the FHIR Standard
Observation.status	required	ObservationStatus http://hl7.org/fhir/ValueSet/observation-status|4.0.1 from the FHIR Standard
Observation.category	preferred	ObservationCategoryCodes http://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard
Observation.category:labCategory	preferred	Pattern: laboratory http://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard
Observation.code	example	Pattern: LOINC code 53041-0 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.bodySite	example	SNOMEDCTBodyStructures http://hl7.org/fhir/ValueSet/body-site from the FHIR Standard
Observation.method	example	ObservationMethods http://hl7.org/fhir/ValueSet/observation-methods from the FHIR Standard
Observation.referenceRange.type	preferred	ObservationReferenceRangeMeaningCodes http://hl7.org/fhir/ValueSet/referencerange-meaning from the FHIR Standard
Observation.referenceRange.appliesTo	example	ObservationReferenceRangeAppliesToCodes http://hl7.org/fhir/ValueSet/referencerange-appliesto from the FHIR Standard
Observation.component.code	example	LOINCCodes (a valid code from LOINC) http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:conclusion-string.code	example	Pattern: conclusion-string http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:conclusion-string.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:conclusion-string.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:gene-studied.code	example	Pattern: LOINC code 48018-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:gene-studied.value[x]	extensible	HGNCVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs
Observation.component:gene-studied.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:gene-studied.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:gene-mutations.code	example	Pattern: LOINC code 36908-2 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:gene-mutations.value[x]	required	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:gene-mutations.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:gene-mutations.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:region-description.code	example	Pattern: LOINC code 81293-3 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:region-description.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:region-description.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:region-coverage.code	example	Pattern: region-coverage http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:region-coverage.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:region-coverage.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:ranges-examined.code	example	Pattern: LOINC code 51959-5 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:ranges-examined.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:ranges-examined.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:coordinate-system.code	example	Pattern: LOINC code 92822-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:coordinate-system.value[x]	extensible	LOINC LL5323-2 http://loinc.org/vs/LL5323-2
Observation.component:coordinate-system.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:coordinate-system.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:genomic-ref-seq.code	example	Pattern: LOINC code 48013-7 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:genomic-ref-seq.value[x]	example
Observation.component:genomic-ref-seq.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:genomic-ref-seq.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:uncallable-regions.code	example	Pattern: uncallable-regions http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:uncallable-regions.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:uncallable-regions.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard

This structure is derived from RegionStudied

Summary

Mandatory: 1 element
Must-Support: 26 elements

Structures

This structure refers to these other structures:

• Cancer Patient Profile (http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-cancer-patient)

Slices

This structure defines the following Slices:

• The element 1 is sliced based on the value of Observation.effective[x]

Maturity: 1