DRAFT Implementation Guide

This is for collaboration and discussion purposes and is subject to change.

North West Genomic Medicine Service Alliance - Local Development build (v0.0.1) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

• Content
• Detailed Descriptions
• XML
• JSON

Resource Profile: Observation Variant

Reference:

• part of openEHR Genomic Variant Result

For reference:

• NHS England Genomics Education - Visual communication aid: Variants of uncertain significance (VUS)

Usages:

• Refer to this Profile: Diagnostic Report
• Examples for this Profile: Observation/brca1-variant

Formal Views of Profile Content

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

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

This structure is derived from Variant

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Observation			Variant
identifier	S	1..*	Identifier	Business Identifier for observation
code	S	1..1	CodeableConcept	69548-6
subject	S	1..1	Reference(Patient | Group | Device | Location)	Who and/or what the observation is about
reference	S	1..1	string	Literal reference, Relative, internal or absolute URL
identifier		0..1	NHSNumber	Logical reference, when literal reference is not known
encounter	S	0..1	Reference(Encounter)	Healthcare event during which this observation is made
identifier	O	0..1	CorrelationIdentifier	Logical reference, when literal reference is not known Obligations Actor SHALL:populate-if-known Order Filler SHALL:populate-if-known Order Placer SHALL:populate-if-known Automation Manager
effective[x]	O	0..1	dateTime, Period, Timing, instant	Clinically relevant time/time-period for observation (HL7 v2 OBX-14) Obligations Actor SHOULD:populate-if-known Order Filler SHOULD:populate-if-known Order Placer SHOULD:populate-if-known Automation Manager
performer		0..*	Reference(PractitionerRole | Patient)	Who is responsible for the observation
Slices for value[x]				Content/Rules for all slices
value[x]:valueCodeableConcept	S	0..1	CodeableConcept	Indeterminate | No call | Present | Absent.
method	S	0..1	CodeableConcept	Sequencing | SNP array | PCR | Computational analysis | ...
Slices for component				Content/Rules for all slices
component:representative-coding-hgvs	S	0..1	BackboneElement	DNA change (c.HGVS)
component:genomic-ref-seq	S	0..1	BackboneElement	Genomic Reference Sequence
component:allelic-state	S	0..1	BackboneElement	Allelic State
Documentation for this format

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Observation	C	0..*	Variant	Variant Constraints: obs-6, obs-7
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created
Slices for extension				Content/Rules for all slices
extension: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.
extension: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	SΣ	1..*	Identifier	Business Identifier for observation
status	?!Σ	1..1	code	registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
Slices for category		2..*	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.
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
category:geCategory		1..1	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
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/v2-0074
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: GE
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
code	SΣ	1..1	CodeableConcept	69548-6 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: 69548-6
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
subject	SΣ	1..1	Reference(Patient | Group | Device | Location)	Who and/or what the observation is about
reference	SΣC	1..1	string	Literal reference, Relative, internal or absolute URL
identifier	Σ	0..1	NHSNumber	Logical reference, when literal reference is not known
encounter	SΣ	0..1	Reference(Encounter)	Healthcare event during which this observation is made
identifier	OΣ	0..1	CorrelationIdentifier	Logical reference, when literal reference is not known Obligations Actor SHALL:populate-if-known Order Filler SHALL:populate-if-known Order Placer SHALL:populate-if-known Automation Manager
effective[x]	OΣ	0..1		Clinically relevant time/time-period for observation (HL7 v2 OBX-14) Obligations Actor SHOULD:populate-if-known Order Filler SHOULD:populate-if-known Order Placer SHOULD:populate-if-known Automation Manager
effectiveDateTime			dateTime
effectivePeriod			Period
effectiveTiming			Timing
effectiveInstant			instant
performer	Σ	0..*	Reference(PractitionerRole | Patient)	Who is responsible for the observation
Slices for value[x]	ΣC	0..1	CodeableConcept	Actual result Slice: Unordered, Closed by type:$this
value[x]:valueCodeableConcept	SΣC	0..1	CodeableConcept	Indeterminate | No call | Present | Absent. Binding: LOINC Answer List LL1971-2 (required)
method	S	0..1	CodeableConcept	Sequencing | SNP array | PCR | Computational analysis | ... Binding: LOINC Answer List LL4048-6 (extensible)
derivedFrom	Σ	0..*	Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence)	Related measurements the observation is made from Slice: Unordered, Open by profile:resolve()
Slices for component	Σ	0..*	BackboneElement	Component results Slice: Unordered, Open by value: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
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
component:gene-studied	Σ	0..*	BackboneElement	Gene Studied
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	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]	Σ	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:cytogenetic-location	Σ	0..*	BackboneElement	Cytogenetic (Chromosome) Location
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48001-2 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: 48001-2
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]	Σ	1..1	CodeableConcept	Example: 1q21.1
component:reference-sequence-assembly	Σ	0..*	BackboneElement	Human Reference Sequence Assembly
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	62374-4 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: 62374-4
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	1..1	CodeableConcept	GRCh37 | GRCh38 | ... Binding: LOINC Answer List LL1040-6 (extensible)
component:chromosome-identifier	Σ	0..*	BackboneElement	Chromosome Identifier
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48000-4 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: 48000-4
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	1..1	CodeableConcept	Chromosome 1 | Chromosome 2 | ... | Chromosome 22 | Chromosome X | Chromosome Y Binding: LOINC Answer List LL2938-0 (required)
component:representative-coding-hgvs	SΣ	0..1	BackboneElement	DNA change (c.HGVS)
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48004-6 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: 48004-6
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]	Σ	1..1	CodeableConcept	A valid HGVS-formatted 'c.' string, e.g. NM_005228.5:c.2369C>T. Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
component:genomic-hgvs	Σ	0..1	BackboneElement	Genomic (gDNA) Change - gHGVS
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81290-9 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: 81290-9
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	1..1	CodeableConcept	A valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
component:cytogenomic-nomenclature	Σ	0..1	BackboneElement	Cytogenomic Nomenclature (ISCN)
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81291-7 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: 81291-7
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]	Σ	1..1	CodeableConcept	Actual component result Binding Description: (example): Binding not yet defined
component:genomic-ref-seq	SΣ	0..1	BackboneElement	Genomic Reference Sequence
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	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]	Σ	1..1	CodeableConcept	Versioned genomic reference sequence identifier Binding Description: (example): Multiple bindings acceptable (NCBI or LRG)
component:representative-protein-ref-seq	Σ	0..1	BackboneElement	Protein Reference Sequence
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	protein-ref-seq 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: protein-ref-seq
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	1..1	CodeableConcept	Versioned protein reference sequence identifier Binding Description: (example): Multiple bindings acceptable (NCBI or LRG)
component:representative-transcript-ref-seq	Σ	0..1	BackboneElement	Reference Transcript
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	51958-7 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: 51958-7
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]	Σ	1..1	CodeableConcept	Versioned transcript reference sequence identifier Binding Description: (example): Multiple bindings acceptable (NCBI or LRG)
component:exact-start-end	Σ	0..1	BackboneElement	Exact Start-End
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81254-5 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: 81254-5
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
component:inner-start-end	Σ	0..1	BackboneElement	Inner Start-End
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81302-2 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: 81302-2
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
component:outer-start-end	Σ	0..1	BackboneElement	Outer Start-End
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81301-4 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: 81301-4
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
component:coordinate-system	Σ	0..1	BackboneElement	Coordinate System
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	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]	Σ	1..1	CodeableConcept	0-based interval counting | 0-based character counting | 1-based character counting Binding: LOINC Answer List LL5323-2 (extensible)
component:ref-allele	Σ	0..1	BackboneElement	Genomic Ref Allele
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	69547-8 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: 69547-8
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
component:alt-allele	Σ	0..1	BackboneElement	Genomic Alt Allele
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	69551-0 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: 69551-0
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
component:coding-change-type	Σ	0..1	BackboneElement	Coding DNA Change Type
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48019-4 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: 48019-4
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	1..1	CodeableConcept	deletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many) Binding: DNA Change Type (extensible): Concepts in sequence ontology under SO:0002072
component:genomic-source-class	Σ	0..1	BackboneElement	Genomic Source Class
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48002-0 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: 48002-0
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
value[x]	Σ	1..1	CodeableConcept	Germline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo Binding: LOINC Answer List LL378-1 (extensible)
component:sample-allelic-frequency	Σ	0..1	BackboneElement	Sample Allelic Frequency
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81258-6 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: 81258-6
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
component:allelic-read-depth	Σ	0..1	BackboneElement	Allelic Read Depth
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	82121-5 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: 82121-5
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
component:allelic-state	SΣ	0..1	BackboneElement	Allelic State
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	53034-5 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: 53034-5
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]	Σ	1..1	CodeableConcept	Heteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous Binding: LOINC Answer List LL381-5 (extensible)
component:variant-inheritance	Σ	0..1	BackboneElement	Origin of germline genetic variant
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	94186-4 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: 94186-4
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	1..1	CodeableConcept	Maternal | Paternal | Unknown Binding: LOINC Answer List LL5489-1 (extensible)
component:variant-inheritance-basis	Σ	0..1	BackboneElement	Evidential basis for variant inheritance
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Basis for allelic phase 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: 82309-6
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]	Σ	1..1	CodeableConcept	Directly measured | Family DNA | Family history | Inferred from population data Binding: LOINC Answer List LL4050-2 (extensible)
component:variation-code	Σ	0..*	BackboneElement	Variation Code
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81252-9 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: 81252-9
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	1..1	CodeableConcept	ClinVar ID or similar Binding Description: (example): Multiple bindings acceptable
component:representative-protein-hgvs	Σ	0..1	BackboneElement	Protein (Amino Acid) Change - pHGVS
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48005-3 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: 48005-3
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]	Σ	1..1	CodeableConcept	A valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys) Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
component:copy-number	Σ	0..1	BackboneElement	Genomic Structural Variant Copy Number
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	82155-3 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: 82155-3
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
component:variant-confidence-status	Σ	0..1	BackboneElement	Variant Confidence Status
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	variant-confidence-status 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: variant-confidence-status
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	1..1	CodeableConcept	High | Intermediate | Low Binding: Variant Confidence Status (required)
component:repeat-motif	Σ	0..*	BackboneElement	Repeat Motif
Slices for extension				Content/Rules for all slices
extension:repeat-motif-order		0..1	positiveInt	Repeat Motif Order URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	repeat-motif 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: repeat-motif
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	1..1	string	CAG
component:repeat-number	Σ	0..*	BackboneElement	Repeat Number
Slices for extension				Content/Rules for all slices
extension:repeat-motif-order		0..1	positiveInt	Repeat Motif Order URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	repeat-number 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: repeat-number
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	1..1	Quantity	40
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	ObservationCategoryCodes http://hl7.org/fhir/ValueSet/observation-category From the FHIR Standard
Observation.category:geCategory	preferred	ObservationCategoryCodes http://hl7.org/fhir/ValueSet/observation-category From the FHIR Standard
Observation.code	example	Pattern Value: LOINC Code 69548-6 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.value[x]:valueCodeableConcept	required	LOINC LL1971-2 http://loinc.org/vs/LL1971-2
Observation.method	extensible	LOINC LL4048-6 http://loinc.org/vs/LL4048-6
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 Value: conclusion-string http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:gene-studied.code	example	Pattern Value: 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:cytogenetic-location.code	example	Pattern Value: LOINC Code 48001-2 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:reference-sequence-assembly.code	example	Pattern Value: LOINC Code 62374-4 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:reference-sequence-assembly.value[x]	extensible	LOINC LL1040-6 http://loinc.org/vs/LL1040-6
Observation.component:chromosome-identifier.code	example	Pattern Value: LOINC Code 48000-4 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:chromosome-identifier.value[x]	required	LOINC LL2938-0 http://loinc.org/vs/LL2938-0
Observation.component:representative-coding-hgvs.code	example	Pattern Value: LOINC Code 48004-6 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:representative-coding-hgvs.value[x]	required	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:genomic-hgvs.code	example	Pattern Value: LOINC Code 81290-9 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:genomic-hgvs.value[x]	required	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:cytogenomic-nomenclature.code	example	Pattern Value: LOINC Code 81291-7 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:cytogenomic-nomenclature.value[x]	example
Observation.component:genomic-ref-seq.code	example	Pattern Value: 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:representative-protein-ref-seq.code	example	Pattern Value: protein-ref-seq http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:representative-protein-ref-seq.value[x]	example
Observation.component:representative-transcript-ref-seq.code	example	Pattern Value: LOINC Code 51958-7 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:representative-transcript-ref-seq.value[x]	example
Observation.component:exact-start-end.code	example	Pattern Value: LOINC Code 81254-5 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:inner-start-end.code	example	Pattern Value: LOINC Code 81302-2 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:outer-start-end.code	example	Pattern Value: LOINC Code 81301-4 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:coordinate-system.code	example	Pattern Value: 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:ref-allele.code	example	Pattern Value: LOINC Code 69547-8 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:alt-allele.code	example	Pattern Value: LOINC Code 69551-0 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:coding-change-type.code	example	Pattern Value: LOINC Code 48019-4 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:coding-change-type.value[x]	extensible	DNAChangeTypeVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs
Observation.component:genomic-source-class.code	example	Pattern Value: LOINC Code 48002-0 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:genomic-source-class.value[x]	extensible	LOINC LL378-1 http://loinc.org/vs/LL378-1
Observation.component:sample-allelic-frequency.code	example	Pattern Value: LOINC Code 81258-6 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:allelic-read-depth.code	example	Pattern Value: LOINC Code 82121-5 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:allelic-state.code	example	Pattern Value: LOINC Code 53034-5 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:allelic-state.value[x]	extensible	LOINC LL381-5 http://loinc.org/vs/LL381-5
Observation.component:variant-inheritance.code	example	Pattern Value: LOINC Code 94186-4 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:variant-inheritance.value[x]	extensible	LOINC LL5489-1 http://loinc.org/vs/LL5489-1
Observation.component:variant-inheritance-basis.code	example	Pattern Value: LOINC Code 82309-6 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:variant-inheritance-basis.value[x]	extensible	LOINC LL4050-2 http://loinc.org/vs/LL4050-2
Observation.component:variation-code.code	example	Pattern Value: LOINC Code 81252-9 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:variation-code.value[x]	example
Observation.component:representative-protein-hgvs.code	example	Pattern Value: LOINC Code 48005-3 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:representative-protein-hgvs.value[x]	required	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:copy-number.code	example	Pattern Value: LOINC Code 82155-3 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:variant-confidence-status.code	example	Pattern Value: variant-confidence-status http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:variant-confidence-status.value[x]	required	VariantConfidenceStatusVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-confidence-status-vs
Observation.component:repeat-motif.code	example	Pattern Value: repeat-motif http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:repeat-number.code	example	Pattern Value: repeat-number http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard

Constraints

Id	Grade	Path(s)	Details	Requirements
dom-2	error	Observation	If the resource is contained in another resource, it SHALL NOT contain nested Resources : contained.contained.empty()
dom-3	error	Observation	If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource : contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
dom-4	error	Observation	If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated : contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
dom-5	error	Observation	If a resource is contained in another resource, it SHALL NOT have a security label : contained.meta.security.empty()
dom-6	best practice	Observation	A resource should have narrative for robust management : text.`div`.exists()
ele-1	error	**ALL** elements	All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count())
ext-1	error	**ALL** extensions	Must have either extensions or value[x], not both : extension.exists() != value.exists()
obs-6	error	Observation	dataAbsentReason SHALL only be present if Observation.value[x] is not present : dataAbsentReason.empty() or value.empty()
obs-7	error	Observation	If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present : value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty()

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Observation	C	0..*	Variant	Variant Constraints: obs-6, obs-7
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 This profile does not constrain the narrative in regard to content, language, or traceability to data elements
contained		0..*	Resource	Contained, inline Resources
Slices for extension		0..*	Extension	Extension Slice: Unordered, Open by value:url
extension: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.
extension: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	SΣ	1..*	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 | Genomic Study)	Part of referenced event
status	?!Σ	1..1	code	registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
Slices for category		2..*	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.
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
category:geCategory		1..1	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
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/v2-0074
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: GE
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	69548-6 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: 69548-6
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
subject	SΣ	1..1	Reference(Patient | Group | Device | Location)	Who and/or what the observation is about
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
reference	SΣC	1..1	string	Literal reference, Relative, internal or absolute URL
type	Σ	0..1	uri	Type the reference refers to (e.g. "Patient") Binding: ResourceType (extensible): Aa resource (or, for logical models, the URI of the logical model).
identifier	Σ	0..1	NHSNumber	Logical reference, when literal reference is not known
display	Σ	0..1	string	Text alternative for the resource
focus	Σ	0..*	Reference(Resource)	What the observation is about, when it is not about the subject of record
encounter	SΣ	0..1	Reference(Encounter)	Healthcare event during which this observation is made
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
reference	ΣC	0..1	string	Literal reference, Relative, internal or absolute URL
type	Σ	0..1	uri	Type the reference refers to (e.g. "Patient") Binding: ResourceType (extensible): Aa resource (or, for logical models, the URI of the logical model).
identifier	OΣ	0..1	CorrelationIdentifier	Logical reference, when literal reference is not known Obligations Actor SHALL:populate-if-known Order Filler SHALL:populate-if-known Order Placer SHALL:populate-if-known Automation Manager
display	Σ	0..1	string	Text alternative for the resource
effective[x]	OΣ	0..1		Clinically relevant time/time-period for observation (HL7 v2 OBX-14) Obligations Actor SHOULD:populate-if-known Order Filler SHOULD:populate-if-known Order Placer SHOULD:populate-if-known Automation Manager
effectiveDateTime			dateTime
effectivePeriod			Period
effectiveTiming			Timing
effectiveInstant			instant
issued	Σ	0..1	instant	Date/Time this version was made available
performer	Σ	0..*	Reference(PractitionerRole | Patient)	Who is responsible for the observation
Slices for value[x]	ΣC	0..1	CodeableConcept	Actual result Slice: Unordered, Closed by type:$this
value[x]:valueCodeableConcept	SΣC	0..1	CodeableConcept	Indeterminate | No call | Present | Absent. Binding: LOINC Answer List LL1971-2 (required)
dataAbsentReason	C	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	S	0..1	CodeableConcept	Sequencing | SNP array | PCR | Computational analysis | ... Binding: LOINC Answer List LL4048-6 (extensible)
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 Constraints: obs-3
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 Slice: Unordered, Open by profile:resolve()
Slices for component	Σ	0..*	BackboneElement	Component results Slice: Unordered, Open by value: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	Σ	0..*	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	Σ	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]	Σ	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:cytogenetic-location	Σ	0..*	BackboneElement	Cytogenetic (Chromosome) Location
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	48001-2 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: 48001-2
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]	Σ	1..1	CodeableConcept	Example: 1q21.1
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:reference-sequence-assembly	Σ	0..*	BackboneElement	Human Reference Sequence Assembly
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	62374-4 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: 62374-4
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	1..1	CodeableConcept	GRCh37 | GRCh38 | ... Binding: LOINC Answer List LL1040-6 (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:chromosome-identifier	Σ	0..*	BackboneElement	Chromosome Identifier
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	48000-4 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: 48000-4
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	1..1	CodeableConcept	Chromosome 1 | Chromosome 2 | ... | Chromosome 22 | Chromosome X | Chromosome Y Binding: LOINC Answer List LL2938-0 (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:representative-coding-hgvs	SΣ	0..1	BackboneElement	DNA change (c.HGVS)
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	48004-6 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: 48004-6
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]	Σ	1..1	CodeableConcept	A valid HGVS-formatted 'c.' string, e.g. NM_005228.5:c.2369C>T. 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:genomic-hgvs	Σ	0..1	BackboneElement	Genomic (gDNA) Change - gHGVS
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	81290-9 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: 81290-9
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	1..1	CodeableConcept	A valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup 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:cytogenomic-nomenclature	Σ	0..1	BackboneElement	Cytogenomic Nomenclature (ISCN)
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	81291-7 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: 81291-7
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]	Σ	1..1	CodeableConcept	Actual component result Binding Description: (example): Binding not yet defined
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	Σ	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]	Σ	1..1	CodeableConcept	Versioned genomic reference sequence identifier Binding Description: (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:representative-protein-ref-seq	Σ	0..1	BackboneElement	Protein 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	Σ	1..1	CodeableConcept	protein-ref-seq 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: protein-ref-seq
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	1..1	CodeableConcept	Versioned protein reference sequence identifier Binding Description: (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:representative-transcript-ref-seq	Σ	0..1	BackboneElement	Reference Transcript
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	51958-7 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: 51958-7
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]	Σ	1..1	CodeableConcept	Versioned transcript reference sequence identifier Binding Description: (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:exact-start-end	Σ	0..1	BackboneElement	Exact Start-End
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	81254-5 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: 81254-5
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]	Σ	0..1	Range	Range in question. 'High' can be omitted for single nucleotide variants.
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:inner-start-end	Σ	0..1	BackboneElement	Inner Start-End
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	81302-2 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: 81302-2
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]	Σ	0..1	Range	Imprecise variant inner-bounding range
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:outer-start-end	Σ	0..1	BackboneElement	Outer Start-End
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	81301-4 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: 81301-4
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	Imprecise variant outer-bounding range
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	Σ	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	Σ	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]	Σ	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:ref-allele	Σ	0..1	BackboneElement	Genomic Ref Allele
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	69547-8 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: 69547-8
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	Normalized string per the VCF format.
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:alt-allele	Σ	0..1	BackboneElement	Genomic Alt Allele
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	69551-0 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: 69551-0
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
value[x]	Σ	0..1	string	Normalized string per the VCF format.
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:coding-change-type	Σ	0..1	BackboneElement	Coding DNA Change Type
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	48019-4 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: 48019-4
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	1..1	CodeableConcept	deletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many) Binding: DNA Change Type (extensible): Concepts in sequence ontology under SO:0002072
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-source-class	Σ	0..1	BackboneElement	Genomic Source Class
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	48002-0 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: 48002-0
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
value[x]	Σ	1..1	CodeableConcept	Germline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo Binding: LOINC Answer List LL378-1 (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:sample-allelic-frequency	Σ	0..1	BackboneElement	Sample Allelic Frequency
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	81258-6 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: 81258-6
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]	Σ	0..1	Quantity	Relative frequency in the sample
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
value	Σ	0..1	decimal	Numerical value (with implicit precision)
comparator	?!Σ	0..1	code	< | <= | >= | > - how to understand the value Binding: QuantityComparator (required): How the Quantity should be understood and represented.
unit	Σ	0..1	string	Unit representation
system	ΣC	0..1	uri	System that defines coded unit form Required Pattern: http://unitsofmeasure.org
code	Σ	0..1	code	Coded form of the unit
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:allelic-read-depth	Σ	0..1	BackboneElement	Allelic Read Depth
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	82121-5 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: 82121-5
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]	Σ	0..1	Quantity	Unfiltered count of supporting reads
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:allelic-state	SΣ	0..1	BackboneElement	Allelic State
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	53034-5 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: 53034-5
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]	Σ	1..1	CodeableConcept	Heteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous Binding: LOINC Answer List LL381-5 (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:variant-inheritance	Σ	0..1	BackboneElement	Origin of germline genetic variant
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	94186-4 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: 94186-4
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	1..1	CodeableConcept	Maternal | Paternal | Unknown Binding: LOINC Answer List LL5489-1 (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:variant-inheritance-basis	Σ	0..1	BackboneElement	Evidential basis for variant inheritance
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	Basis for allelic phase 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: 82309-6
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]	Σ	1..1	CodeableConcept	Directly measured | Family DNA | Family history | Inferred from population data Binding: LOINC Answer List LL4050-2 (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:variation-code	Σ	0..*	BackboneElement	Variation Code
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	81252-9 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: 81252-9
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	1..1	CodeableConcept	ClinVar ID or similar Binding Description: (example): Multiple bindings acceptable
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:representative-protein-hgvs	Σ	0..1	BackboneElement	Protein (Amino Acid) Change - pHGVS
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	48005-3 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: 48005-3
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]	Σ	1..1	CodeableConcept	A valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys) 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:copy-number	Σ	0..1	BackboneElement	Genomic Structural Variant Copy Number
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	82155-3 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: 82155-3
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]	Σ	0..1		Actual component result
valueQuantity			Quantity
valueRange			Range
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:variant-confidence-status	Σ	0..1	BackboneElement	Variant Confidence Status
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	variant-confidence-status 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: variant-confidence-status
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	1..1	CodeableConcept	High | Intermediate | Low Binding: Variant Confidence Status (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:repeat-motif	Σ	0..*	BackboneElement	Repeat Motif
id		0..1	string	Unique id for inter-element referencing
Slices for extension		0..*	Extension	Extension Slice: Unordered, Open by value:url
extension:repeat-motif-order		0..1	positiveInt	Repeat Motif Order URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	repeat-motif 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: repeat-motif
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	1..1	string	CAG
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:repeat-number	Σ	0..*	BackboneElement	Repeat Number
id		0..1	string	Unique id for inter-element referencing
Slices for extension		0..*	Extension	Extension Slice: Unordered, Open by value:url
extension:repeat-motif-order		0..1	positiveInt	Repeat Motif Order URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	repeat-number 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: repeat-number
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	1..1	Quantity	40
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 http://hl7.org/fhir/ValueSet/languages From the FHIR Standard Additional Bindings Purpose AllLanguages Max Binding
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	ObservationCategoryCodes http://hl7.org/fhir/ValueSet/observation-category From the FHIR Standard
Observation.category:geCategory	preferred	ObservationCategoryCodes http://hl7.org/fhir/ValueSet/observation-category From the FHIR Standard
Observation.code	example	Pattern Value: LOINC Code 69548-6 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.subject.type	extensible	ResourceType http://hl7.org/fhir/ValueSet/resource-types From the FHIR Standard
Observation.encounter.type	extensible	ResourceType http://hl7.org/fhir/ValueSet/resource-types From the FHIR Standard
Observation.value[x]:valueCodeableConcept	required	LOINC LL1971-2 http://loinc.org/vs/LL1971-2
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	extensible	LOINC LL4048-6 http://loinc.org/vs/LL4048-6
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 Value: 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 Value: 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:cytogenetic-location.code	example	Pattern Value: LOINC Code 48001-2 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:cytogenetic-location.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:cytogenetic-location.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:reference-sequence-assembly.code	example	Pattern Value: LOINC Code 62374-4 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:reference-sequence-assembly.value[x]	extensible	LOINC LL1040-6 http://loinc.org/vs/LL1040-6
Observation.component:reference-sequence-assembly.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:reference-sequence-assembly.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:chromosome-identifier.code	example	Pattern Value: LOINC Code 48000-4 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:chromosome-identifier.value[x]	required	LOINC LL2938-0 http://loinc.org/vs/LL2938-0
Observation.component:chromosome-identifier.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:chromosome-identifier.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:representative-coding-hgvs.code	example	Pattern Value: LOINC Code 48004-6 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:representative-coding-hgvs.value[x]	required	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:representative-coding-hgvs.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:representative-coding-hgvs.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:genomic-hgvs.code	example	Pattern Value: LOINC Code 81290-9 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:genomic-hgvs.value[x]	required	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:genomic-hgvs.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:genomic-hgvs.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:cytogenomic-nomenclature.code	example	Pattern Value: LOINC Code 81291-7 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:cytogenomic-nomenclature.value[x]	example
Observation.component:cytogenomic-nomenclature.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:cytogenomic-nomenclature.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:genomic-ref-seq.code	example	Pattern Value: 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:representative-protein-ref-seq.code	example	Pattern Value: protein-ref-seq http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:representative-protein-ref-seq.value[x]	example
Observation.component:representative-protein-ref-seq.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:representative-protein-ref-seq.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:representative-transcript-ref-seq.code	example	Pattern Value: LOINC Code 51958-7 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:representative-transcript-ref-seq.value[x]	example
Observation.component:representative-transcript-ref-seq.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:representative-transcript-ref-seq.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:exact-start-end.code	example	Pattern Value: LOINC Code 81254-5 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:exact-start-end.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:exact-start-end.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:inner-start-end.code	example	Pattern Value: LOINC Code 81302-2 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:inner-start-end.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:inner-start-end.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:outer-start-end.code	example	Pattern Value: LOINC Code 81301-4 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:outer-start-end.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:outer-start-end.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:coordinate-system.code	example	Pattern Value: 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:ref-allele.code	example	Pattern Value: LOINC Code 69547-8 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:ref-allele.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:ref-allele.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:alt-allele.code	example	Pattern Value: LOINC Code 69551-0 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:alt-allele.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:alt-allele.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:coding-change-type.code	example	Pattern Value: LOINC Code 48019-4 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:coding-change-type.value[x]	extensible	DNAChangeTypeVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs
Observation.component:coding-change-type.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:coding-change-type.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:genomic-source-class.code	example	Pattern Value: LOINC Code 48002-0 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:genomic-source-class.value[x]	extensible	LOINC LL378-1 http://loinc.org/vs/LL378-1
Observation.component:genomic-source-class.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:genomic-source-class.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:sample-allelic-frequency.code	example	Pattern Value: LOINC Code 81258-6 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:sample-allelic-frequency.value[x].comparator	required	QuantityComparator http://hl7.org/fhir/ValueSet/quantity-comparator|4.0.1 From the FHIR Standard
Observation.component:sample-allelic-frequency.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:sample-allelic-frequency.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:allelic-read-depth.code	example	Pattern Value: LOINC Code 82121-5 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:allelic-read-depth.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:allelic-read-depth.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:allelic-state.code	example	Pattern Value: LOINC Code 53034-5 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:allelic-state.value[x]	extensible	LOINC LL381-5 http://loinc.org/vs/LL381-5
Observation.component:allelic-state.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:allelic-state.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:variant-inheritance.code	example	Pattern Value: LOINC Code 94186-4 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:variant-inheritance.value[x]	extensible	LOINC LL5489-1 http://loinc.org/vs/LL5489-1
Observation.component:variant-inheritance.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:variant-inheritance.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:variant-inheritance-basis.code	example	Pattern Value: LOINC Code 82309-6 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:variant-inheritance-basis.value[x]	extensible	LOINC LL4050-2 http://loinc.org/vs/LL4050-2
Observation.component:variant-inheritance-basis.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:variant-inheritance-basis.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:variation-code.code	example	Pattern Value: LOINC Code 81252-9 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:variation-code.value[x]	example
Observation.component:variation-code.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:variation-code.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:representative-protein-hgvs.code	example	Pattern Value: LOINC Code 48005-3 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:representative-protein-hgvs.value[x]	required	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:representative-protein-hgvs.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:representative-protein-hgvs.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:copy-number.code	example	Pattern Value: LOINC Code 82155-3 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:copy-number.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:copy-number.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:variant-confidence-status.code	example	Pattern Value: variant-confidence-status http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:variant-confidence-status.value[x]	required	VariantConfidenceStatusVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-confidence-status-vs
Observation.component:variant-confidence-status.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:variant-confidence-status.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:repeat-motif.code	example	Pattern Value: repeat-motif http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:repeat-motif.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:repeat-motif.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:repeat-number.code	example	Pattern Value: repeat-number http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:repeat-number.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:repeat-number.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard

Constraints

Id	Grade	Path(s)	Details	Requirements
dom-2	error	Observation	If the resource is contained in another resource, it SHALL NOT contain nested Resources : contained.contained.empty()
dom-3	error	Observation	If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource : contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
dom-4	error	Observation	If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated : contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
dom-5	error	Observation	If a resource is contained in another resource, it SHALL NOT have a security label : contained.meta.security.empty()
dom-6	best practice	Observation	A resource should have narrative for robust management : text.`div`.exists()
ele-1	error	**ALL** elements	All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count())
ext-1	error	**ALL** extensions	Must have either extensions or value[x], not both : extension.exists() != value.exists()
obs-3	error	Observation.referenceRange	Must have at least a low or a high or text : low.exists() or high.exists() or text.exists()
obs-6	error	Observation	dataAbsentReason SHALL only be present if Observation.value[x] is not present : dataAbsentReason.empty() or value.empty()
obs-7	error	Observation	If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present : value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty()

This structure is derived from Variant

Summary

Mandatory: 3 elements
Must-Support: 10 elements

Structures

This structure refers to these other structures:

• NHS Number (https://nw-gmsa.github.io/StructureDefinition/NHSNumber)
• Encounter (https://nw-gmsa.github.io/StructureDefinition/Encounter)
• Correlation Identifier (https://nw-gmsa.github.io/StructureDefinition/CorrelationIdentifier)
• PractitionerRole (https://nw-gmsa.github.io/StructureDefinition/PractitionerRole)
• Patient (https://nw-gmsa.github.io/StructureDefinition/Patient)

Differential View

This structure is derived from Variant

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Observation			Variant
identifier	S	1..*	Identifier	Business Identifier for observation
code	S	1..1	CodeableConcept	69548-6
subject	S	1..1	Reference(Patient | Group | Device | Location)	Who and/or what the observation is about
reference	S	1..1	string	Literal reference, Relative, internal or absolute URL
identifier		0..1	NHSNumber	Logical reference, when literal reference is not known
encounter	S	0..1	Reference(Encounter)	Healthcare event during which this observation is made
identifier	O	0..1	CorrelationIdentifier	Logical reference, when literal reference is not known Obligations Actor SHALL:populate-if-known Order Filler SHALL:populate-if-known Order Placer SHALL:populate-if-known Automation Manager
effective[x]	O	0..1	dateTime, Period, Timing, instant	Clinically relevant time/time-period for observation (HL7 v2 OBX-14) Obligations Actor SHOULD:populate-if-known Order Filler SHOULD:populate-if-known Order Placer SHOULD:populate-if-known Automation Manager
performer		0..*	Reference(PractitionerRole | Patient)	Who is responsible for the observation
Slices for value[x]				Content/Rules for all slices
value[x]:valueCodeableConcept	S	0..1	CodeableConcept	Indeterminate | No call | Present | Absent.
method	S	0..1	CodeableConcept	Sequencing | SNP array | PCR | Computational analysis | ...
Slices for component				Content/Rules for all slices
component:representative-coding-hgvs	S	0..1	BackboneElement	DNA change (c.HGVS)
component:genomic-ref-seq	S	0..1	BackboneElement	Genomic Reference Sequence
component:allelic-state	S	0..1	BackboneElement	Allelic State
Documentation for this format

Key Elements View

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Observation	C	0..*	Variant	Variant Constraints: obs-6, obs-7
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created
Slices for extension				Content/Rules for all slices
extension: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.
extension: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	SΣ	1..*	Identifier	Business Identifier for observation
status	?!Σ	1..1	code	registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
Slices for category		2..*	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.
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
category:geCategory		1..1	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
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/v2-0074
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: GE
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
code	SΣ	1..1	CodeableConcept	69548-6 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: 69548-6
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
subject	SΣ	1..1	Reference(Patient | Group | Device | Location)	Who and/or what the observation is about
reference	SΣC	1..1	string	Literal reference, Relative, internal or absolute URL
identifier	Σ	0..1	NHSNumber	Logical reference, when literal reference is not known
encounter	SΣ	0..1	Reference(Encounter)	Healthcare event during which this observation is made
identifier	OΣ	0..1	CorrelationIdentifier	Logical reference, when literal reference is not known Obligations Actor SHALL:populate-if-known Order Filler SHALL:populate-if-known Order Placer SHALL:populate-if-known Automation Manager
effective[x]	OΣ	0..1		Clinically relevant time/time-period for observation (HL7 v2 OBX-14) Obligations Actor SHOULD:populate-if-known Order Filler SHOULD:populate-if-known Order Placer SHOULD:populate-if-known Automation Manager
effectiveDateTime			dateTime
effectivePeriod			Period
effectiveTiming			Timing
effectiveInstant			instant
performer	Σ	0..*	Reference(PractitionerRole | Patient)	Who is responsible for the observation
Slices for value[x]	ΣC	0..1	CodeableConcept	Actual result Slice: Unordered, Closed by type:$this
value[x]:valueCodeableConcept	SΣC	0..1	CodeableConcept	Indeterminate | No call | Present | Absent. Binding: LOINC Answer List LL1971-2 (required)
method	S	0..1	CodeableConcept	Sequencing | SNP array | PCR | Computational analysis | ... Binding: LOINC Answer List LL4048-6 (extensible)
derivedFrom	Σ	0..*	Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence)	Related measurements the observation is made from Slice: Unordered, Open by profile:resolve()
Slices for component	Σ	0..*	BackboneElement	Component results Slice: Unordered, Open by value: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
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
component:gene-studied	Σ	0..*	BackboneElement	Gene Studied
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	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]	Σ	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:cytogenetic-location	Σ	0..*	BackboneElement	Cytogenetic (Chromosome) Location
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48001-2 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: 48001-2
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]	Σ	1..1	CodeableConcept	Example: 1q21.1
component:reference-sequence-assembly	Σ	0..*	BackboneElement	Human Reference Sequence Assembly
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	62374-4 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: 62374-4
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	1..1	CodeableConcept	GRCh37 | GRCh38 | ... Binding: LOINC Answer List LL1040-6 (extensible)
component:chromosome-identifier	Σ	0..*	BackboneElement	Chromosome Identifier
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48000-4 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: 48000-4
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	1..1	CodeableConcept	Chromosome 1 | Chromosome 2 | ... | Chromosome 22 | Chromosome X | Chromosome Y Binding: LOINC Answer List LL2938-0 (required)
component:representative-coding-hgvs	SΣ	0..1	BackboneElement	DNA change (c.HGVS)
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48004-6 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: 48004-6
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]	Σ	1..1	CodeableConcept	A valid HGVS-formatted 'c.' string, e.g. NM_005228.5:c.2369C>T. Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
component:genomic-hgvs	Σ	0..1	BackboneElement	Genomic (gDNA) Change - gHGVS
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81290-9 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: 81290-9
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	1..1	CodeableConcept	A valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
component:cytogenomic-nomenclature	Σ	0..1	BackboneElement	Cytogenomic Nomenclature (ISCN)
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81291-7 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: 81291-7
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]	Σ	1..1	CodeableConcept	Actual component result Binding Description: (example): Binding not yet defined
component:genomic-ref-seq	SΣ	0..1	BackboneElement	Genomic Reference Sequence
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	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]	Σ	1..1	CodeableConcept	Versioned genomic reference sequence identifier Binding Description: (example): Multiple bindings acceptable (NCBI or LRG)
component:representative-protein-ref-seq	Σ	0..1	BackboneElement	Protein Reference Sequence
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	protein-ref-seq 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: protein-ref-seq
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	1..1	CodeableConcept	Versioned protein reference sequence identifier Binding Description: (example): Multiple bindings acceptable (NCBI or LRG)
component:representative-transcript-ref-seq	Σ	0..1	BackboneElement	Reference Transcript
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	51958-7 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: 51958-7
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]	Σ	1..1	CodeableConcept	Versioned transcript reference sequence identifier Binding Description: (example): Multiple bindings acceptable (NCBI or LRG)
component:exact-start-end	Σ	0..1	BackboneElement	Exact Start-End
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81254-5 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: 81254-5
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
component:inner-start-end	Σ	0..1	BackboneElement	Inner Start-End
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81302-2 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: 81302-2
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
component:outer-start-end	Σ	0..1	BackboneElement	Outer Start-End
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81301-4 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: 81301-4
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
component:coordinate-system	Σ	0..1	BackboneElement	Coordinate System
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	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]	Σ	1..1	CodeableConcept	0-based interval counting | 0-based character counting | 1-based character counting Binding: LOINC Answer List LL5323-2 (extensible)
component:ref-allele	Σ	0..1	BackboneElement	Genomic Ref Allele
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	69547-8 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: 69547-8
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
component:alt-allele	Σ	0..1	BackboneElement	Genomic Alt Allele
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	69551-0 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: 69551-0
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
component:coding-change-type	Σ	0..1	BackboneElement	Coding DNA Change Type
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48019-4 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: 48019-4
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	1..1	CodeableConcept	deletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many) Binding: DNA Change Type (extensible): Concepts in sequence ontology under SO:0002072
component:genomic-source-class	Σ	0..1	BackboneElement	Genomic Source Class
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48002-0 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: 48002-0
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
value[x]	Σ	1..1	CodeableConcept	Germline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo Binding: LOINC Answer List LL378-1 (extensible)
component:sample-allelic-frequency	Σ	0..1	BackboneElement	Sample Allelic Frequency
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81258-6 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: 81258-6
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
component:allelic-read-depth	Σ	0..1	BackboneElement	Allelic Read Depth
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	82121-5 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: 82121-5
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
component:allelic-state	SΣ	0..1	BackboneElement	Allelic State
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	53034-5 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: 53034-5
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]	Σ	1..1	CodeableConcept	Heteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous Binding: LOINC Answer List LL381-5 (extensible)
component:variant-inheritance	Σ	0..1	BackboneElement	Origin of germline genetic variant
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	94186-4 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: 94186-4
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	1..1	CodeableConcept	Maternal | Paternal | Unknown Binding: LOINC Answer List LL5489-1 (extensible)
component:variant-inheritance-basis	Σ	0..1	BackboneElement	Evidential basis for variant inheritance
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Basis for allelic phase 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: 82309-6
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]	Σ	1..1	CodeableConcept	Directly measured | Family DNA | Family history | Inferred from population data Binding: LOINC Answer List LL4050-2 (extensible)
component:variation-code	Σ	0..*	BackboneElement	Variation Code
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81252-9 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: 81252-9
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	1..1	CodeableConcept	ClinVar ID or similar Binding Description: (example): Multiple bindings acceptable
component:representative-protein-hgvs	Σ	0..1	BackboneElement	Protein (Amino Acid) Change - pHGVS
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48005-3 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: 48005-3
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]	Σ	1..1	CodeableConcept	A valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys) Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
component:copy-number	Σ	0..1	BackboneElement	Genomic Structural Variant Copy Number
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	82155-3 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: 82155-3
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
component:variant-confidence-status	Σ	0..1	BackboneElement	Variant Confidence Status
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	variant-confidence-status 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: variant-confidence-status
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	1..1	CodeableConcept	High | Intermediate | Low Binding: Variant Confidence Status (required)
component:repeat-motif	Σ	0..*	BackboneElement	Repeat Motif
Slices for extension				Content/Rules for all slices
extension:repeat-motif-order		0..1	positiveInt	Repeat Motif Order URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	repeat-motif 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: repeat-motif
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	1..1	string	CAG
component:repeat-number	Σ	0..*	BackboneElement	Repeat Number
Slices for extension				Content/Rules for all slices
extension:repeat-motif-order		0..1	positiveInt	Repeat Motif Order URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	repeat-number 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: repeat-number
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	1..1	Quantity	40
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	ObservationCategoryCodes http://hl7.org/fhir/ValueSet/observation-category From the FHIR Standard
Observation.category:geCategory	preferred	ObservationCategoryCodes http://hl7.org/fhir/ValueSet/observation-category From the FHIR Standard
Observation.code	example	Pattern Value: LOINC Code 69548-6 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.value[x]:valueCodeableConcept	required	LOINC LL1971-2 http://loinc.org/vs/LL1971-2
Observation.method	extensible	LOINC LL4048-6 http://loinc.org/vs/LL4048-6
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 Value: conclusion-string http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:gene-studied.code	example	Pattern Value: 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:cytogenetic-location.code	example	Pattern Value: LOINC Code 48001-2 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:reference-sequence-assembly.code	example	Pattern Value: LOINC Code 62374-4 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:reference-sequence-assembly.value[x]	extensible	LOINC LL1040-6 http://loinc.org/vs/LL1040-6
Observation.component:chromosome-identifier.code	example	Pattern Value: LOINC Code 48000-4 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:chromosome-identifier.value[x]	required	LOINC LL2938-0 http://loinc.org/vs/LL2938-0
Observation.component:representative-coding-hgvs.code	example	Pattern Value: LOINC Code 48004-6 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:representative-coding-hgvs.value[x]	required	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:genomic-hgvs.code	example	Pattern Value: LOINC Code 81290-9 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:genomic-hgvs.value[x]	required	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:cytogenomic-nomenclature.code	example	Pattern Value: LOINC Code 81291-7 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:cytogenomic-nomenclature.value[x]	example
Observation.component:genomic-ref-seq.code	example	Pattern Value: 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:representative-protein-ref-seq.code	example	Pattern Value: protein-ref-seq http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:representative-protein-ref-seq.value[x]	example
Observation.component:representative-transcript-ref-seq.code	example	Pattern Value: LOINC Code 51958-7 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:representative-transcript-ref-seq.value[x]	example
Observation.component:exact-start-end.code	example	Pattern Value: LOINC Code 81254-5 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:inner-start-end.code	example	Pattern Value: LOINC Code 81302-2 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:outer-start-end.code	example	Pattern Value: LOINC Code 81301-4 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:coordinate-system.code	example	Pattern Value: 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:ref-allele.code	example	Pattern Value: LOINC Code 69547-8 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:alt-allele.code	example	Pattern Value: LOINC Code 69551-0 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:coding-change-type.code	example	Pattern Value: LOINC Code 48019-4 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:coding-change-type.value[x]	extensible	DNAChangeTypeVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs
Observation.component:genomic-source-class.code	example	Pattern Value: LOINC Code 48002-0 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:genomic-source-class.value[x]	extensible	LOINC LL378-1 http://loinc.org/vs/LL378-1
Observation.component:sample-allelic-frequency.code	example	Pattern Value: LOINC Code 81258-6 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:allelic-read-depth.code	example	Pattern Value: LOINC Code 82121-5 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:allelic-state.code	example	Pattern Value: LOINC Code 53034-5 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:allelic-state.value[x]	extensible	LOINC LL381-5 http://loinc.org/vs/LL381-5
Observation.component:variant-inheritance.code	example	Pattern Value: LOINC Code 94186-4 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:variant-inheritance.value[x]	extensible	LOINC LL5489-1 http://loinc.org/vs/LL5489-1
Observation.component:variant-inheritance-basis.code	example	Pattern Value: LOINC Code 82309-6 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:variant-inheritance-basis.value[x]	extensible	LOINC LL4050-2 http://loinc.org/vs/LL4050-2
Observation.component:variation-code.code	example	Pattern Value: LOINC Code 81252-9 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:variation-code.value[x]	example
Observation.component:representative-protein-hgvs.code	example	Pattern Value: LOINC Code 48005-3 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:representative-protein-hgvs.value[x]	required	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:copy-number.code	example	Pattern Value: LOINC Code 82155-3 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:variant-confidence-status.code	example	Pattern Value: variant-confidence-status http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:variant-confidence-status.value[x]	required	VariantConfidenceStatusVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-confidence-status-vs
Observation.component:repeat-motif.code	example	Pattern Value: repeat-motif http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:repeat-number.code	example	Pattern Value: repeat-number http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard

Constraints

Id	Grade	Path(s)	Details	Requirements
dom-2	error	Observation	If the resource is contained in another resource, it SHALL NOT contain nested Resources : contained.contained.empty()
dom-3	error	Observation	If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource : contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
dom-4	error	Observation	If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated : contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
dom-5	error	Observation	If a resource is contained in another resource, it SHALL NOT have a security label : contained.meta.security.empty()
dom-6	best practice	Observation	A resource should have narrative for robust management : text.`div`.exists()
ele-1	error	**ALL** elements	All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count())
ext-1	error	**ALL** extensions	Must have either extensions or value[x], not both : extension.exists() != value.exists()
obs-6	error	Observation	dataAbsentReason SHALL only be present if Observation.value[x] is not present : dataAbsentReason.empty() or value.empty()
obs-7	error	Observation	If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present : value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty()

Snapshot View

Name	Flags	Card.	Type	Description & Constraints    Filter: Bindings Constraints Obligations
Observation	C	0..*	Variant	Variant Constraints: obs-6, obs-7
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 This profile does not constrain the narrative in regard to content, language, or traceability to data elements
contained		0..*	Resource	Contained, inline Resources
Slices for extension		0..*	Extension	Extension Slice: Unordered, Open by value:url
extension: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.
extension: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	SΣ	1..*	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 | Genomic Study)	Part of referenced event
status	?!Σ	1..1	code	registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
Slices for category		2..*	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.
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
category:geCategory		1..1	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
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/v2-0074
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: GE
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	69548-6 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: 69548-6
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
subject	SΣ	1..1	Reference(Patient | Group | Device | Location)	Who and/or what the observation is about
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
reference	SΣC	1..1	string	Literal reference, Relative, internal or absolute URL
type	Σ	0..1	uri	Type the reference refers to (e.g. "Patient") Binding: ResourceType (extensible): Aa resource (or, for logical models, the URI of the logical model).
identifier	Σ	0..1	NHSNumber	Logical reference, when literal reference is not known
display	Σ	0..1	string	Text alternative for the resource
focus	Σ	0..*	Reference(Resource)	What the observation is about, when it is not about the subject of record
encounter	SΣ	0..1	Reference(Encounter)	Healthcare event during which this observation is made
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
reference	ΣC	0..1	string	Literal reference, Relative, internal or absolute URL
type	Σ	0..1	uri	Type the reference refers to (e.g. "Patient") Binding: ResourceType (extensible): Aa resource (or, for logical models, the URI of the logical model).
identifier	OΣ	0..1	CorrelationIdentifier	Logical reference, when literal reference is not known Obligations Actor SHALL:populate-if-known Order Filler SHALL:populate-if-known Order Placer SHALL:populate-if-known Automation Manager
display	Σ	0..1	string	Text alternative for the resource
effective[x]	OΣ	0..1		Clinically relevant time/time-period for observation (HL7 v2 OBX-14) Obligations Actor SHOULD:populate-if-known Order Filler SHOULD:populate-if-known Order Placer SHOULD:populate-if-known Automation Manager
effectiveDateTime			dateTime
effectivePeriod			Period
effectiveTiming			Timing
effectiveInstant			instant
issued	Σ	0..1	instant	Date/Time this version was made available
performer	Σ	0..*	Reference(PractitionerRole | Patient)	Who is responsible for the observation
Slices for value[x]	ΣC	0..1	CodeableConcept	Actual result Slice: Unordered, Closed by type:$this
value[x]:valueCodeableConcept	SΣC	0..1	CodeableConcept	Indeterminate | No call | Present | Absent. Binding: LOINC Answer List LL1971-2 (required)
dataAbsentReason	C	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	S	0..1	CodeableConcept	Sequencing | SNP array | PCR | Computational analysis | ... Binding: LOINC Answer List LL4048-6 (extensible)
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 Constraints: obs-3
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 Slice: Unordered, Open by profile:resolve()
Slices for component	Σ	0..*	BackboneElement	Component results Slice: Unordered, Open by value: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	Σ	0..*	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	Σ	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]	Σ	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:cytogenetic-location	Σ	0..*	BackboneElement	Cytogenetic (Chromosome) Location
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	48001-2 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: 48001-2
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]	Σ	1..1	CodeableConcept	Example: 1q21.1
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:reference-sequence-assembly	Σ	0..*	BackboneElement	Human Reference Sequence Assembly
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	62374-4 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: 62374-4
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	1..1	CodeableConcept	GRCh37 | GRCh38 | ... Binding: LOINC Answer List LL1040-6 (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:chromosome-identifier	Σ	0..*	BackboneElement	Chromosome Identifier
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	48000-4 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: 48000-4
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	1..1	CodeableConcept	Chromosome 1 | Chromosome 2 | ... | Chromosome 22 | Chromosome X | Chromosome Y Binding: LOINC Answer List LL2938-0 (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:representative-coding-hgvs	SΣ	0..1	BackboneElement	DNA change (c.HGVS)
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	48004-6 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: 48004-6
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]	Σ	1..1	CodeableConcept	A valid HGVS-formatted 'c.' string, e.g. NM_005228.5:c.2369C>T. 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:genomic-hgvs	Σ	0..1	BackboneElement	Genomic (gDNA) Change - gHGVS
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	81290-9 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: 81290-9
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	1..1	CodeableConcept	A valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup 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:cytogenomic-nomenclature	Σ	0..1	BackboneElement	Cytogenomic Nomenclature (ISCN)
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	81291-7 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: 81291-7
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]	Σ	1..1	CodeableConcept	Actual component result Binding Description: (example): Binding not yet defined
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	Σ	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]	Σ	1..1	CodeableConcept	Versioned genomic reference sequence identifier Binding Description: (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:representative-protein-ref-seq	Σ	0..1	BackboneElement	Protein 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	Σ	1..1	CodeableConcept	protein-ref-seq 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: protein-ref-seq
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	1..1	CodeableConcept	Versioned protein reference sequence identifier Binding Description: (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:representative-transcript-ref-seq	Σ	0..1	BackboneElement	Reference Transcript
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	51958-7 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: 51958-7
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]	Σ	1..1	CodeableConcept	Versioned transcript reference sequence identifier Binding Description: (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:exact-start-end	Σ	0..1	BackboneElement	Exact Start-End
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	81254-5 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: 81254-5
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]	Σ	0..1	Range	Range in question. 'High' can be omitted for single nucleotide variants.
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:inner-start-end	Σ	0..1	BackboneElement	Inner Start-End
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	81302-2 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: 81302-2
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]	Σ	0..1	Range	Imprecise variant inner-bounding range
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:outer-start-end	Σ	0..1	BackboneElement	Outer Start-End
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	81301-4 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: 81301-4
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	Imprecise variant outer-bounding range
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	Σ	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	Σ	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]	Σ	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:ref-allele	Σ	0..1	BackboneElement	Genomic Ref Allele
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	69547-8 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: 69547-8
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	Normalized string per the VCF format.
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:alt-allele	Σ	0..1	BackboneElement	Genomic Alt Allele
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	69551-0 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: 69551-0
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
value[x]	Σ	0..1	string	Normalized string per the VCF format.
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:coding-change-type	Σ	0..1	BackboneElement	Coding DNA Change Type
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	48019-4 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: 48019-4
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	1..1	CodeableConcept	deletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many) Binding: DNA Change Type (extensible): Concepts in sequence ontology under SO:0002072
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-source-class	Σ	0..1	BackboneElement	Genomic Source Class
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	48002-0 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: 48002-0
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
value[x]	Σ	1..1	CodeableConcept	Germline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo Binding: LOINC Answer List LL378-1 (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:sample-allelic-frequency	Σ	0..1	BackboneElement	Sample Allelic Frequency
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	81258-6 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: 81258-6
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]	Σ	0..1	Quantity	Relative frequency in the sample
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
value	Σ	0..1	decimal	Numerical value (with implicit precision)
comparator	?!Σ	0..1	code	< | <= | >= | > - how to understand the value Binding: QuantityComparator (required): How the Quantity should be understood and represented.
unit	Σ	0..1	string	Unit representation
system	ΣC	0..1	uri	System that defines coded unit form Required Pattern: http://unitsofmeasure.org
code	Σ	0..1	code	Coded form of the unit
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:allelic-read-depth	Σ	0..1	BackboneElement	Allelic Read Depth
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	82121-5 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: 82121-5
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]	Σ	0..1	Quantity	Unfiltered count of supporting reads
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:allelic-state	SΣ	0..1	BackboneElement	Allelic State
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	53034-5 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: 53034-5
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]	Σ	1..1	CodeableConcept	Heteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous Binding: LOINC Answer List LL381-5 (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:variant-inheritance	Σ	0..1	BackboneElement	Origin of germline genetic variant
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	94186-4 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: 94186-4
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	1..1	CodeableConcept	Maternal | Paternal | Unknown Binding: LOINC Answer List LL5489-1 (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:variant-inheritance-basis	Σ	0..1	BackboneElement	Evidential basis for variant inheritance
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	Basis for allelic phase 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: 82309-6
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]	Σ	1..1	CodeableConcept	Directly measured | Family DNA | Family history | Inferred from population data Binding: LOINC Answer List LL4050-2 (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:variation-code	Σ	0..*	BackboneElement	Variation Code
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	81252-9 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: 81252-9
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	1..1	CodeableConcept	ClinVar ID or similar Binding Description: (example): Multiple bindings acceptable
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:representative-protein-hgvs	Σ	0..1	BackboneElement	Protein (Amino Acid) Change - pHGVS
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	48005-3 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: 48005-3
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]	Σ	1..1	CodeableConcept	A valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys) 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:copy-number	Σ	0..1	BackboneElement	Genomic Structural Variant Copy Number
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	82155-3 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: 82155-3
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]	Σ	0..1		Actual component result
valueQuantity			Quantity
valueRange			Range
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:variant-confidence-status	Σ	0..1	BackboneElement	Variant Confidence Status
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	variant-confidence-status 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: variant-confidence-status
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	1..1	CodeableConcept	High | Intermediate | Low Binding: Variant Confidence Status (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:repeat-motif	Σ	0..*	BackboneElement	Repeat Motif
id		0..1	string	Unique id for inter-element referencing
Slices for extension		0..*	Extension	Extension Slice: Unordered, Open by value:url
extension:repeat-motif-order		0..1	positiveInt	Repeat Motif Order URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	repeat-motif 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: repeat-motif
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	1..1	string	CAG
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:repeat-number	Σ	0..*	BackboneElement	Repeat Number
id		0..1	string	Unique id for inter-element referencing
Slices for extension		0..*	Extension	Extension Slice: Unordered, Open by value:url
extension:repeat-motif-order		0..1	positiveInt	Repeat Motif Order URL: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/repeat-motif-order
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	repeat-number 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: repeat-number
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	1..1	Quantity	40
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 http://hl7.org/fhir/ValueSet/languages From the FHIR Standard Additional Bindings Purpose AllLanguages Max Binding
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	ObservationCategoryCodes http://hl7.org/fhir/ValueSet/observation-category From the FHIR Standard
Observation.category:geCategory	preferred	ObservationCategoryCodes http://hl7.org/fhir/ValueSet/observation-category From the FHIR Standard
Observation.code	example	Pattern Value: LOINC Code 69548-6 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.subject.type	extensible	ResourceType http://hl7.org/fhir/ValueSet/resource-types From the FHIR Standard
Observation.encounter.type	extensible	ResourceType http://hl7.org/fhir/ValueSet/resource-types From the FHIR Standard
Observation.value[x]:valueCodeableConcept	required	LOINC LL1971-2 http://loinc.org/vs/LL1971-2
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	extensible	LOINC LL4048-6 http://loinc.org/vs/LL4048-6
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 Value: 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 Value: 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:cytogenetic-location.code	example	Pattern Value: LOINC Code 48001-2 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:cytogenetic-location.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:cytogenetic-location.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:reference-sequence-assembly.code	example	Pattern Value: LOINC Code 62374-4 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:reference-sequence-assembly.value[x]	extensible	LOINC LL1040-6 http://loinc.org/vs/LL1040-6
Observation.component:reference-sequence-assembly.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:reference-sequence-assembly.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:chromosome-identifier.code	example	Pattern Value: LOINC Code 48000-4 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:chromosome-identifier.value[x]	required	LOINC LL2938-0 http://loinc.org/vs/LL2938-0
Observation.component:chromosome-identifier.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:chromosome-identifier.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:representative-coding-hgvs.code	example	Pattern Value: LOINC Code 48004-6 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:representative-coding-hgvs.value[x]	required	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:representative-coding-hgvs.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:representative-coding-hgvs.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:genomic-hgvs.code	example	Pattern Value: LOINC Code 81290-9 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:genomic-hgvs.value[x]	required	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:genomic-hgvs.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:genomic-hgvs.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:cytogenomic-nomenclature.code	example	Pattern Value: LOINC Code 81291-7 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:cytogenomic-nomenclature.value[x]	example
Observation.component:cytogenomic-nomenclature.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:cytogenomic-nomenclature.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:genomic-ref-seq.code	example	Pattern Value: 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:representative-protein-ref-seq.code	example	Pattern Value: protein-ref-seq http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:representative-protein-ref-seq.value[x]	example
Observation.component:representative-protein-ref-seq.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:representative-protein-ref-seq.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:representative-transcript-ref-seq.code	example	Pattern Value: LOINC Code 51958-7 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:representative-transcript-ref-seq.value[x]	example
Observation.component:representative-transcript-ref-seq.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:representative-transcript-ref-seq.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:exact-start-end.code	example	Pattern Value: LOINC Code 81254-5 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:exact-start-end.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:exact-start-end.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:inner-start-end.code	example	Pattern Value: LOINC Code 81302-2 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:inner-start-end.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:inner-start-end.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:outer-start-end.code	example	Pattern Value: LOINC Code 81301-4 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:outer-start-end.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:outer-start-end.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:coordinate-system.code	example	Pattern Value: 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:ref-allele.code	example	Pattern Value: LOINC Code 69547-8 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:ref-allele.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:ref-allele.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:alt-allele.code	example	Pattern Value: LOINC Code 69551-0 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:alt-allele.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:alt-allele.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:coding-change-type.code	example	Pattern Value: LOINC Code 48019-4 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:coding-change-type.value[x]	extensible	DNAChangeTypeVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs
Observation.component:coding-change-type.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:coding-change-type.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:genomic-source-class.code	example	Pattern Value: LOINC Code 48002-0 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:genomic-source-class.value[x]	extensible	LOINC LL378-1 http://loinc.org/vs/LL378-1
Observation.component:genomic-source-class.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:genomic-source-class.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:sample-allelic-frequency.code	example	Pattern Value: LOINC Code 81258-6 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:sample-allelic-frequency.value[x].comparator	required	QuantityComparator http://hl7.org/fhir/ValueSet/quantity-comparator|4.0.1 From the FHIR Standard
Observation.component:sample-allelic-frequency.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:sample-allelic-frequency.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:allelic-read-depth.code	example	Pattern Value: LOINC Code 82121-5 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:allelic-read-depth.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:allelic-read-depth.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:allelic-state.code	example	Pattern Value: LOINC Code 53034-5 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:allelic-state.value[x]	extensible	LOINC LL381-5 http://loinc.org/vs/LL381-5
Observation.component:allelic-state.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:allelic-state.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:variant-inheritance.code	example	Pattern Value: LOINC Code 94186-4 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:variant-inheritance.value[x]	extensible	LOINC LL5489-1 http://loinc.org/vs/LL5489-1
Observation.component:variant-inheritance.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:variant-inheritance.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:variant-inheritance-basis.code	example	Pattern Value: LOINC Code 82309-6 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:variant-inheritance-basis.value[x]	extensible	LOINC LL4050-2 http://loinc.org/vs/LL4050-2
Observation.component:variant-inheritance-basis.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:variant-inheritance-basis.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:variation-code.code	example	Pattern Value: LOINC Code 81252-9 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:variation-code.value[x]	example
Observation.component:variation-code.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:variation-code.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:representative-protein-hgvs.code	example	Pattern Value: LOINC Code 48005-3 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:representative-protein-hgvs.value[x]	required	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:representative-protein-hgvs.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:representative-protein-hgvs.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:copy-number.code	example	Pattern Value: LOINC Code 82155-3 http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:copy-number.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:copy-number.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:variant-confidence-status.code	example	Pattern Value: variant-confidence-status http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:variant-confidence-status.value[x]	required	VariantConfidenceStatusVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-confidence-status-vs
Observation.component:variant-confidence-status.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:variant-confidence-status.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:repeat-motif.code	example	Pattern Value: repeat-motif http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:repeat-motif.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:repeat-motif.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard
Observation.component:repeat-number.code	example	Pattern Value: repeat-number http://hl7.org/fhir/ValueSet/observation-codes From the FHIR Standard
Observation.component:repeat-number.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason From the FHIR Standard
Observation.component:repeat-number.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation From the FHIR Standard

Constraints

Id	Grade	Path(s)	Details	Requirements
dom-2	error	Observation	If the resource is contained in another resource, it SHALL NOT contain nested Resources : contained.contained.empty()
dom-3	error	Observation	If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource : contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty()
dom-4	error	Observation	If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated : contained.meta.versionId.empty() and contained.meta.lastUpdated.empty()
dom-5	error	Observation	If a resource is contained in another resource, it SHALL NOT have a security label : contained.meta.security.empty()
dom-6	best practice	Observation	A resource should have narrative for robust management : text.`div`.exists()
ele-1	error	**ALL** elements	All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count())
ext-1	error	**ALL** extensions	Must have either extensions or value[x], not both : extension.exists() != value.exists()
obs-3	error	Observation.referenceRange	Must have at least a low or a high or text : low.exists() or high.exists() or text.exists()
obs-6	error	Observation	dataAbsentReason SHALL only be present if Observation.value[x] is not present : dataAbsentReason.empty() or value.empty()
obs-7	error	Observation	If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present : value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty()

This structure is derived from Variant

Summary

Mandatory: 3 elements
Must-Support: 10 elements

Structures

This structure refers to these other structures:

• NHS Number (https://nw-gmsa.github.io/StructureDefinition/NHSNumber)
• Encounter (https://nw-gmsa.github.io/StructureDefinition/Encounter)
• Correlation Identifier (https://nw-gmsa.github.io/StructureDefinition/CorrelationIdentifier)
• PractitionerRole (https://nw-gmsa.github.io/StructureDefinition/PractitionerRole)
• Patient (https://nw-gmsa.github.io/StructureDefinition/Patient)