FHIR Osiris Implementation Guide - Local Development build (v2.1.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

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Resource Profile: Single Nucleotide Polymorphism

Observation of a Single Nucleotide Polymorphism (SNP) derived from a Sequencing Analysis.

Usage:

• Refer to this Resource Profile: Validation and Variant Annotation
• Examples for this Resource Profile: Observation/fhir-osiris-example-snp-1

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
Observation			Variant
strand-bias	S	0..1	boolean	DNA strand bias URL: https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/StructureDefinition/strand-bias
value[x]		0..1	boolean	Value of extension
subject	S	1..1	Reference(Oncology Patient)	Who and/or what the observation is about
derivedFrom	S	1..1	Reference(Sequencing Analysis)	Analysis from which come this observation
Slices for component		8..*	BackboneElement	Component results Slice: Unordered, Open by pattern:code
component:cytogenetic-location	S	0..1	BackboneElement	Cytogenetic map
value[x]		1..1	CodeableConcept	Actual component result Binding: CytoBand Value Set (required)
component:ref-sequence-assembly	S	1..1	BackboneElement	Reference genome version
value[x]		1..1	CodeableConcept	Actual component result Binding: GenomeBuild Value Set (extensible)
component:dna-chg-type	S	1..1	BackboneElement	Type
value[x]		1..1	CodeableConcept	Concepts in sequence ontology under SO:0002072 (see http://www.sequenceontology.org/browser/current_release/term/SO:0002072) Binding: DNA Change Type Value Set (extensible)
component:genomic-source-class	S	1..1	BackboneElement	Cellular type
value[x]		1..1	CodeableConcept	Germline | Somatic | Fetal | Likely germline | Likely somatic |Likely fetal | Unknown genomic origin | De novo
component:allelic-read-depth	S	1..1	BackboneElement	Depth
value[x]		1..1	Quantity	Actual component result
component:allelic-state	S	0..1	BackboneElement	Zygotia
value[x]		1..1	CodeableConcept	Heteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous
component:ref-allele	S	1..1	BackboneElement	Reference allele
value[x]		1..1	string	Actual component result
component:alt-allele	S	1..1	BackboneElement	Alternative allele
value[x]		1..1	string	Actual component result
component:exact-start-end		0..1	BackboneElement	Exact start-end
value[x]
low	S	1..1	SimpleQuantity	Start position
high	S	1..1	SimpleQuantity	End position
component:pathogenicity	S	0..1	BackboneElement	Pathogenicity
code		1..1	CodeableConcept	Type of component observation (code / type) Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 74019-1
value[x]		0..1	CodeableConcept	Actual component result Binding: Pathogenicity Value Set (required)
component:actionability	S	0..1	BackboneElement	Impact on patient treatment
code		1..1	CodeableConcept	Type of component observation (code / type) Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 93348-1
value[x]		0..1	boolean	Actual component result
component:proposed-for-orientation	S	0..1	BackboneElement	Impact on the choice of therapy
code		1..1	CodeableConcept	Type of component observation (code / type) Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/umls
code		1..1	code	Symbol in syntax defined by the system Fixed Value: C0449889
value[x]		0..1	boolean	Actual component result
component:chromosome	S	1..*	BackboneElement	Chromosome
code		1..1	CodeableConcept	Type of component observation (code / type) Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48000-4
value[x]	S	1..1	CodeableConcept	Actual component result Binding: Chromosome Value Set (required)
component:variant-read-depth	S	1..1	BackboneElement	Alternative allele depth
code		1..1	CodeableConcept	Type of component observation (code / type) Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: LP232001-0
value[x]	S	1..1	Quantity	Actual component result
Documentation for this format

Terminology Bindings (Differential)

Path	Conformance	ValueSet	URI
Observation.component:cytogenetic-location.value[x]	required	CytoBand https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/ValueSet/CytoBand from this IG
Observation.component:ref-sequence-assembly.value[x]	extensible	GenomeBuild https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/ValueSet/GenomeBuild from this IG
Observation.component:dna-chg-type.value[x]	extensible	DNAChangeType https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/ValueSet/DNAChangeType from this IG
Observation.component:pathogenicity.value[x]	required	Pathogenicity https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/ValueSet/Pathogenicity from this IG
Observation.component:chromosome.value[x]	required	Chromosome https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/ValueSet/Chromosome from this IG

Name	Flags	Card.	Type	Description & Constraints
Observation	C	0..*	Variant	Variant obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created
BodyStructure		0..1	Reference(BodyStructure)	Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite
SecondaryFinding		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: ObservationCategoryCodes (extensible): Codes to denote a guideline or policy statement.when a genetic test result is being shared as a secondary finding.
strand-bias	S	0..1	boolean	DNA strand bias URL: https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/StructureDefinition/strand-bias
extension		0..0
url		1..1	uri	"https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/StructureDefinition/strand-bias"
value[x]		0..1	boolean	Value of extension
modifierExtension	?!	0..*	Extension	Extensions that cannot be ignored
status	?!Σ	1..1	code	registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
category		1..*	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
code		1..1	code	Symbol in syntax defined by the system Fixed Value: laboratory
code	Σ	1..1	CodeableConcept	Genetic variant assessment Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 69548-6
subject	SΣ	1..1	Reference(Oncology Patient)	Who and/or what the observation is about
Slices for effective[x]	Σ	0..1	dateTime	Clinically relevant time/time-period for observation Slice: Unordered, Closed by type:$this
effective[x]:effectiveDateTime	Σ	0..1	dateTime	Clinically relevant time/time-period for observation
performer	Σ	0..1	Reference(Practitioner | Organization | Patient | RelatedPerson)	Who is responsible for the observation
value[x]	ΣC	1..1	CodeableConcept	Present|Absent|No call|Indeterminate Binding: LOINC Answer List LL1971-2 (required): Genetic Variant Assessment
derivedFrom	SΣ	1..1	Reference(Sequencing Analysis)	Analysis from which come this observation
Slices for component	Σ	8..*	BackboneElement	Component results Slice: Unordered, Open by pattern:code
component:All Slices				Content/Rules for all slices
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
component:gene-studied	Σ	0..*	BackboneElement	Gene studied ID
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48018-6
value[x]	Σ	1..1	CodeableConcept	If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. Binding: HGNC (extensible): HGNC: Human Gene Nomenclature Committee
component:cytogenetic-location	SΣ	0..1	BackboneElement	Cytogenetic map
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48001-2
value[x]	Σ	1..1	CodeableConcept	Actual component result Binding: CytoBand Value Set (required)
component:ref-sequence-assembly	SΣ	1..1	BackboneElement	Reference genome version
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 62374-4
value[x]	Σ	1..1	CodeableConcept	Actual component result Binding: GenomeBuild Value Set (extensible)
component:dna-chg	Σ	0..1	BackboneElement	DNA Change - Transcript (cHGVS)
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48004-6
value[x]	Σ	1..1	CodeableConcept	Actual component result Binding: HGVS (required): HGVS: Sequence Variant Nomenclature from the Human Genome Variation Society
component:dna-chg-type	SΣ	1..1	BackboneElement	Type
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48019-4
value[x]	Σ	1..1	CodeableConcept	Concepts in sequence ontology under SO:0002072 (see http://www.sequenceontology.org/browser/current_release/term/SO:0002072) Binding: DNA Change Type Value Set (extensible)
component:functional-annotation	Σ	0..*	BackboneElement	Functional Annotation
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes
code		1..1	code	Symbol in syntax defined by the system Fixed Value: functional-annotation
value[x]	Σ	1..1	CodeableConcept	Concepts in sequence ontology under SO:0001537 (see http://www.sequenceontology.org/browser/current_release/term/SO:0001537) Binding: Functional Annotation (extensible): Functional Annotation (Sequence Ontology)
component:variation-code	Σ	0..1	BackboneElement	Variation Code
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81252-9
value[x]	Σ	1..1	CodeableConcept	Actual component result Binding: (unbound) (example): Binding not yet defined
component:dbSNP-id	Σ	0..1	BackboneElement	dbSNP ID
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81255-2
value[x]	Σ	1..1	CodeableConcept	Actual component result Binding: (unbound) (example): Binding not yet defined
component:genomic-dna-chg	Σ	0..1	BackboneElement	DNA Change - Genomic (gHGVS)
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81290-9
value[x]	Σ	1..1	CodeableConcept	Actual component result Binding: HGVS (required): HGVS: Sequence Variant Nomenclature from the Human Genome Variation Society
component:genomic-source-class	SΣ	1..1	BackboneElement	Cellular type
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48002-0
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): Genomic source class values
component:amino-acid-chg	Σ	0..1	BackboneElement	Amino acid change (pHGVS)
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48005-3
value[x]	Σ	1..1	CodeableConcept	Actual component result Binding: HGVS (required): HGVS: Sequence Variant Nomenclature from the Human Genome Variation Society
component:amino-acid-chg-type	Σ	0..1	BackboneElement	Amino acid change type
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48006-1
value[x]	Σ	1..1	CodeableConcept	Wild type | Deletion | Duplication | Frameshift | Initiating Methionine | Insertion | Insertion and Deletion | Missense | Silent | Stop Codon Mutation Binding: LOINC Answer List LL380-7 (required): Amino acid change type values
component:transcript-ref-seq	Σ	0..1	BackboneElement	Transcript reference sequence ID
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 51958-7
value[x]	Σ	1..1	CodeableConcept	Actual component result Binding: (unbound) (example): Binding not yet defined
component:genomic-ref-seq	Σ	0..1	BackboneElement	Genomic reference sequence ID
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48013-7
value[x]	Σ	1..1	CodeableConcept	Actual component result Binding: (unbound) (example): Binding not yet defined
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	Sample Sample VAF Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81258-6
value[x]	Σ	1..1	Quantity	Actual component result
value	Σ	1..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.
system	ΣC	1..1	uri	System that defines coded unit form Fixed Value: http://unitsofmeasure.org
component:allelic-read-depth	SΣ	1..1	BackboneElement	Depth
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 82121-5
value[x]	Σ	1..1	Quantity	Actual component result
component:allelic-state	SΣ	0..1	BackboneElement	Zygotia
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 53034-5
value[x]	Σ	1..1	CodeableConcept	Heteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous Binding: LOINC Answer List LL381-5 (extensible): Allelic state type values
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	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 82155-3
value[x]	C	1..1	Count	A measured or measurable amount cnt-3: There SHALL be a code with a value of "1" if there is a value. If system is present, it SHALL be UCUM. If present, the value SHALL be a whole number. qty-3: If a code for the unit is present, the system SHALL also be present
component:ref-allele	SΣ	1..1	BackboneElement	Reference allele
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 69547-8
value[x]	Σ	1..1	string	Actual component result
component:alt-allele	SΣ	1..1	BackboneElement	Alternative allele
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 69551-0
value[x]	Σ	1..1	string	Actual component result
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	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 92822-6
value[x]	Σ	1..1	CodeableConcept	0-based interval | 0-based character | 1-based character Binding: LOINC Answer List LL5323-2 (preferred): Base coordinate systems start and end measurements for variants
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	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes
code		1..1	code	Symbol in syntax defined by the system Fixed Value: exact-start-end
value[x]	Σ	1..1	Range	Actual component result
low	SΣ	1..1	SimpleQuantity	Start position
high	SΣ	1..1	SimpleQuantity	End position
component:variant-length	Σ	0..1	BackboneElement	Structural variant length
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81300-6
value[x]	C	1..1	Count	A measured or measurable amount cnt-3: There SHALL be a code with a value of "1" if there is a value. If system is present, it SHALL be UCUM. If present, the value SHALL be a whole number. qty-3: If a code for the unit is present, the system SHALL also be present
component:outer-start-end	Σ	0..1	BackboneElement	Variant outer start and end
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes
code		1..1	code	Symbol in syntax defined by the system Fixed Value: outer-start-end
value[x]	Σ	1..1	Range	Actual component result
low	Σ	1..1	SimpleQuantity	Low limit
high	Σ	1..1	SimpleQuantity	High limit
component:inner-start-end	Σ	0..1	BackboneElement	Variant inner start and end
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes
code		1..1	code	Symbol in syntax defined by the system Fixed Value: inner-start-end
value[x]	Σ	1..1	Range	Actual component result
low	Σ	1..1	SimpleQuantity	Low limit
high	Σ	1..1	SimpleQuantity	High limit
component:chromosome-copy-number-change-type	Σ	0..1	BackboneElement	Chromosome copy number change type
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 62378-5
value[x]	Σ	1..1	CodeableConcept	Copy number gain | Copy number loss Binding: LOINC Answer List LL1041-4 (required): Copy Number Change Types
component:arrCGH-ratio	Σ	0..1	BackboneElement	Structural variant reported arrCGH [Ratio]
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81299-0
value[x]	C	1..1	SimpleQuantity	A fixed quantity (no comparator) qty-3: If a code for the unit is present, the system SHALL also be present sqty-1: The comparator is not used on a SimpleQuantity
component:complex-var-type	Σ	0..1	BackboneElement	Complex variant type
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81263-6
value[x]	Σ	1..1	CodeableConcept	Compound heterozygous | Double heterozygous | Haplotype | Hemizygous Binding: LOINC Answer List LL3999-1 (required): Complex variant type
component:cytogenomic-nomenclature	Σ	0..1	BackboneElement	Cytogenomic Nomenclature
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Variant ISCN Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81291-7
value[x]	Σ	1..1	CodeableConcept	Actual component result Binding: (unbound) (example): Binding not yet defined
component:variant-inheritance	Σ	0..1	BackboneElement	Variant Inheritance
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes
code		1..1	code	Symbol in syntax defined by the system Fixed Value: variant-inheritance
value[x]	Σ	1..1	CodeableConcept	Actual component result Binding: Variant Inheritance (extensible): Variant Inheritance (Sequence Ontology)
component:pathogenicity	SΣ	0..1	BackboneElement	Pathogenicity
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 74019-1
value[x]	Σ	0..1	CodeableConcept	Actual component result Binding: Pathogenicity Value Set (required)
component:actionability	SΣ	0..1	BackboneElement	Impact on patient treatment
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 93348-1
value[x]	Σ	0..1	boolean	Actual component result
component:proposed-for-orientation	SΣ	0..1	BackboneElement	Impact on the choice of therapy
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/umls
code		1..1	code	Symbol in syntax defined by the system Fixed Value: C0449889
value[x]	Σ	0..1	boolean	Actual component result
component:chromosome	SΣ	1..*	BackboneElement	Chromosome
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48000-4
value[x]	SΣ	1..1	CodeableConcept	Actual component result Binding: Chromosome Value Set (required)
component:variant-read-depth	SΣ	1..1	BackboneElement	Alternative allele depth
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: LP232001-0
value[x]	SΣ	1..1	Quantity	Actual component result
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	Pattern: laboratory http://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard
Observation.code	example	Pattern: LOINC code 69548-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.value[x]	required	LOINC LL1971-2 http://loinc.org/vs/LL1971-2
Observation.component.code	example	LOINCCodes (a valid code from LOINC) http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:gene-studied.code	example	Pattern: LOINC code 48018-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:gene-studied.value[x]	extensible	HGNC http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc
Observation.component:cytogenetic-location.code	example	Pattern: LOINC code 48001-2 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:cytogenetic-location.value[x]	required	CytoBand https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/ValueSet/CytoBand from this IG
Observation.component:ref-sequence-assembly.code	example	Pattern: LOINC code 62374-4 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:ref-sequence-assembly.value[x]	extensible	GenomeBuild https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/ValueSet/GenomeBuild from this IG
Observation.component:dna-chg.code	example	Pattern: LOINC code 48004-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:dna-chg.value[x]	required	HGVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs
Observation.component:dna-chg-type.code	example	Pattern: LOINC code 48019-4 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:dna-chg-type.value[x]	extensible	DNAChangeType https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/ValueSet/DNAChangeType from this IG
Observation.component:functional-annotation.code	example	Pattern: functional-annotation http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:functional-annotation.value[x]	extensible	FunctionalAnnotation http://hl7.org/fhir/uv/genomics-reporting/ValueSet/functional-annotation
Observation.component:variation-code.code	example	Pattern: LOINC code 81252-9 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:variation-code.value[x]	example
Observation.component:dbSNP-id.code	example	Pattern: LOINC code 81255-2 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:dbSNP-id.value[x]	example
Observation.component:genomic-dna-chg.code	example	Pattern: LOINC code 81290-9 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:genomic-dna-chg.value[x]	required	HGVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs
Observation.component:genomic-source-class.code	example	Pattern: 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:amino-acid-chg.code	example	Pattern: LOINC code 48005-3 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:amino-acid-chg.value[x]	required	HGVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs
Observation.component:amino-acid-chg-type.code	example	Pattern: LOINC code 48006-1 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:amino-acid-chg-type.value[x]	required	LOINC LL380-7 http://loinc.org/vs/LL380-7
Observation.component:transcript-ref-seq.code	example	Pattern: LOINC code 51958-7 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:transcript-ref-seq.value[x]	example
Observation.component:genomic-ref-seq.code	example	Pattern: LOINC code 48013-7 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:genomic-ref-seq.value[x]	example
Observation.component:sample-allelic-frequency.code	example	Pattern: 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:allelic-read-depth.code	example	Pattern: LOINC code 82121-5 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:allelic-state.code	example	Pattern: 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:copy-number.code	example	Pattern: LOINC code 82155-3 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:ref-allele.code	example	Pattern: LOINC code 69547-8 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:alt-allele.code	example	Pattern: LOINC code 69551-0 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:coordinate-system.code	example	Pattern: LOINC code 92822-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:coordinate-system.value[x]	preferred	LOINC LL5323-2 http://loinc.org/vs/LL5323-2
Observation.component:exact-start-end.code	example	Pattern: exact-start-end http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:variant-length.code	example	Pattern: LOINC code 81300-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:outer-start-end.code	example	Pattern: outer-start-end http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:inner-start-end.code	example	Pattern: inner-start-end http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:chromosome-copy-number-change-type.code	example	Pattern: LOINC code 62378-5 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:chromosome-copy-number-change-type.value[x]	required	LOINC LL1041-4 http://loinc.org/vs/LL1041-4
Observation.component:arrCGH-ratio.code	example	Pattern: LOINC code 81299-0 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:complex-var-type.code	example	Pattern: LOINC code 81263-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:complex-var-type.value[x]	required	LOINC LL3999-1 http://loinc.org/vs/LL3999-1
Observation.component:cytogenomic-nomenclature.code	example	Pattern: LOINC code 81291-7 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:cytogenomic-nomenclature.value[x]	example
Observation.component:variant-inheritance.code	example	Pattern: variant-inheritance http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:variant-inheritance.value[x]	extensible	VariantInheritance http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-inheritance
Observation.component:pathogenicity.code	example	Pattern: LOINC code 74019-1 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:pathogenicity.value[x]	required	Pathogenicity https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/ValueSet/Pathogenicity from this IG
Observation.component:actionability.code	example	Pattern: LOINC code 93348-1 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:proposed-for-orientation.code	example	Pattern: C0449889 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:chromosome.code	example	Pattern: LOINC code 48000-4 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:chromosome.value[x]	required	Chromosome https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/ValueSet/Chromosome from this IG
Observation.component:variant-read-depth.code	example	Pattern: LOINC code LP232001-0 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard

Name	Flags	Card.	Type	Description & Constraints
Observation	C	0..*	Variant	Variant obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present
id	Σ	0..1	id	Logical id of this artifact
meta	Σ	0..1	Meta	Metadata about the resource
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created
language		0..1	code	Language of the resource content Binding: CommonLanguages (preferred): A human language. Additional Bindings Purpose AllLanguages Max Binding
text		0..1	Narrative	Text summary of the resource, for human interpretation
contained		0..*	Resource	Contained, inline Resources
Slices for extension		0..*	Extension	Extension Slice: Unordered, Open by value:url
BodyStructure		0..1	Reference(BodyStructure)	Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite
SecondaryFinding		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: ObservationCategoryCodes (extensible): Codes to denote a guideline or policy statement.when a genetic test result is being shared as a secondary finding.
strand-bias	S	0..1	boolean	DNA strand bias URL: https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/StructureDefinition/strand-bias
id		0..1	string	Unique id for inter-element referencing
extension		0..0
url		1..1	uri	"https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/StructureDefinition/strand-bias"
value[x]		0..1	boolean	Value of extension
modifierExtension	?!	0..*	Extension	Extensions that cannot be ignored
identifier	Σ	0..*	Identifier	Business Identifier for observation
basedOn	Σ	0..*	Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest)	Fulfills plan, proposal or order
partOf	Σ	0..*	Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy)	Part of referenced event
status	?!Σ	1..1	code	registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
category		1..*	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: laboratory
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
code	Σ	1..1	CodeableConcept	Genetic variant assessment 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(Oncology Patient)	Who and/or what the observation is about
focus	Σ	0..*	Reference(Resource)	What the observation is about, when it is not about the subject of record
encounter	Σ	0..1	Reference(Encounter)	Healthcare event during which this observation is made
Slices for effective[x]	Σ	0..1	dateTime	Clinically relevant time/time-period for observation Slice: Unordered, Closed by type:$this
effective[x]:effectiveDateTime	Σ	0..1	dateTime	Clinically relevant time/time-period for observation
issued	Σ	0..1	instant	Date/Time this version was made available
performer	Σ	0..1	Reference(Practitioner | Organization | Patient | RelatedPerson)	Who is responsible for the observation
value[x]	ΣC	1..1	CodeableConcept	Present|Absent|No call|Indeterminate Binding: LOINC Answer List LL1971-2 (required): Genetic Variant Assessment
dataAbsentReason	C	0..1	CodeableConcept	Why the result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
note		0..*	Annotation	Comments about the observation
bodySite		0..1	CodeableConcept	Observed body part Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.
method		0..1	CodeableConcept	Sequencing | Oligo aCGH | SNP array | BAC aCGH |Curated|+ Binding: LOINC Answer List LL4048-6 (extensible): Variant analysis method type
specimen		0..1	Reference(Specimen)	Specimen examined
device		0..1	Reference(Device | DeviceMetric)	(Measurement) Device
referenceRange	C	0..*	BackboneElement	Provides guide for interpretation obs-3: Must have at least a low or a high or text
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
low	C	0..1	SimpleQuantity	Low Range, if relevant
high	C	0..1	SimpleQuantity	High Range, if relevant
type		0..1	CodeableConcept	Reference range qualifier Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range.
appliesTo		0..*	CodeableConcept	Reference range population Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to.
age		0..1	Range	Applicable age range, if relevant
text		0..1	string	Text based reference range in an observation
hasMember	Σ	0..*	Reference(Observation | QuestionnaireResponse | MolecularSequence)	Related resource that belongs to the Observation group
derivedFrom	SΣ	1..1	Reference(Sequencing Analysis)	Analysis from which come this observation
Slices for component	Σ	8..*	BackboneElement	Component results Slice: Unordered, Open by pattern:code
component:All Slices				Content/Rules for all slices
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
value[x]	Σ	0..1		Actual component result
valueQuantity			Quantity
valueCodeableConcept			CodeableConcept
valueString			string
valueBoolean			boolean
valueInteger			integer
valueRange			Range
valueRatio			Ratio
valueSampledData			SampledData
valueTime			time
valueDateTime			dateTime
valuePeriod			Period
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:gene-studied	Σ	0..*	BackboneElement	Gene studied ID
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) 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	If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. Binding: HGNC (extensible): HGNC: Human Gene Nomenclature Committee
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:cytogenetic-location	SΣ	0..1	BackboneElement	Cytogenetic map
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. 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	Actual component result Binding: CytoBand Value Set (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.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:ref-sequence-assembly	SΣ	1..1	BackboneElement	Reference genome version
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. 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	Actual component result Binding: GenomeBuild Value Set (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.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:dna-chg	Σ	0..1	BackboneElement	DNA Change - Transcript (cHGVS)
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. 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	Actual component result Binding: HGVS (required): HGVS: Sequence Variant Nomenclature from the Human Genome Variation Society
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:dna-chg-type	SΣ	1..1	BackboneElement	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	Type of component observation (code / type) 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	Concepts in sequence ontology under SO:0002072 (see http://www.sequenceontology.org/browser/current_release/term/SO:0002072) Binding: DNA Change Type Value Set (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.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:functional-annotation	Σ	0..*	BackboneElement	Functional Annotation
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. 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
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: functional-annotation
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	Concepts in sequence ontology under SO:0001537 (see http://www.sequenceontology.org/browser/current_release/term/SO:0001537) Binding: Functional Annotation (extensible): Functional Annotation (Sequence Ontology)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:variation-code	Σ	0..1	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	Type of component observation (code / type) 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	Actual component result Binding: (unbound) (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.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:dbSNP-id	Σ	0..1	BackboneElement	dbSNP ID
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) 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: 81255-2
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	Actual component result Binding: (unbound) (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.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:genomic-dna-chg	Σ	0..1	BackboneElement	DNA Change - Genomic (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	Type of component observation (code / type) 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	Actual component result Binding: HGVS (required): HGVS: Sequence Variant Nomenclature from the Human Genome Variation Society
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:genomic-source-class	SΣ	1..1	BackboneElement	Cellular 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	Type of component observation (code / type) 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): Genomic source class values
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:amino-acid-chg	Σ	0..1	BackboneElement	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	Type of component observation (code / type) 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	Actual component result Binding: HGVS (required): HGVS: Sequence Variant Nomenclature from the Human Genome Variation Society
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:amino-acid-chg-type	Σ	0..1	BackboneElement	Amino acid 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	Type of component observation (code / type) 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: 48006-1
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	Wild type | Deletion | Duplication | Frameshift | Initiating Methionine | Insertion | Insertion and Deletion | Missense | Silent | Stop Codon Mutation Binding: LOINC Answer List LL380-7 (required): Amino acid change type values
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:transcript-ref-seq	Σ	0..1	BackboneElement	Transcript reference sequence ID
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) 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	Actual component result Binding: (unbound) (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.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:genomic-ref-seq	Σ	0..1	BackboneElement	Genomic reference sequence ID
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) 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	Actual component result Binding: (unbound) (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.
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	Sample Sample VAF 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	1..1	Quantity	Actual component result
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	1..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	1..1	uri	System that defines coded unit form Fixed Value: 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.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:allelic-read-depth	SΣ	1..1	BackboneElement	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	Type of component observation (code / type) 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	1..1	Quantity	Actual component result
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:allelic-state	SΣ	0..1	BackboneElement	Zygotia
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. 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): Allelic state type values
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
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	Type of component observation (code / type) 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]	C	1..1	Count	A measured or measurable amount cnt-3: There SHALL be a code with a value of "1" if there is a value. If system is present, it SHALL be UCUM. If present, the value SHALL be a whole number. qty-3: If a code for the unit is present, the system SHALL also be present
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:ref-allele	SΣ	1..1	BackboneElement	Reference 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	Type of component observation (code / type) 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	1..1	string	Actual component result
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:alt-allele	SΣ	1..1	BackboneElement	Alternative 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	Type of component observation (code / type) 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	1..1	string	Actual component result
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
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	Type of component observation (code / type) 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 | 0-based character | 1-based character Binding: LOINC Answer List LL5323-2 (preferred): Base coordinate systems start and end measurements for 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.
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	Type of component observation (code / type) 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
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: exact-start-end
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	Range	Actual component result
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
low	SΣ	1..1	SimpleQuantity	Start position
high	SΣ	1..1	SimpleQuantity	End position
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:variant-length	Σ	0..1	BackboneElement	Structural variant length
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. 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: 81300-6
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]	C	1..1	Count	A measured or measurable amount cnt-3: There SHALL be a code with a value of "1" if there is a value. If system is present, it SHALL be UCUM. If present, the value SHALL be a whole number. qty-3: If a code for the unit is present, the system SHALL also be present
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:outer-start-end	Σ	0..1	BackboneElement	Variant outer start and 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	Type of component observation (code / type) 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
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: outer-start-end
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	Range	Actual component result
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
low	Σ	1..1	SimpleQuantity	Low limit
high	Σ	1..1	SimpleQuantity	High limit
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:inner-start-end	Σ	0..1	BackboneElement	Variant inner start and 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	Type of component observation (code / type) 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
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: inner-start-end
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	Range	Actual component result
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
low	Σ	1..1	SimpleQuantity	Low limit
high	Σ	1..1	SimpleQuantity	High limit
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:chromosome-copy-number-change-type	Σ	0..1	BackboneElement	Chromosome copy number 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	Type of component observation (code / type) 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: 62378-5
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	Copy number gain | Copy number loss Binding: LOINC Answer List LL1041-4 (required): Copy Number Change Types
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:arrCGH-ratio	Σ	0..1	BackboneElement	Structural variant reported arrCGH [Ratio]
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. 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: 81299-0
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]	C	1..1	SimpleQuantity	A fixed quantity (no comparator) qty-3: If a code for the unit is present, the system SHALL also be present sqty-1: The comparator is not used on a SimpleQuantity
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:complex-var-type	Σ	0..1	BackboneElement	Complex variant 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	Type of component observation (code / type) 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: 81263-6
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	Compound heterozygous | Double heterozygous | Haplotype | Hemizygous Binding: LOINC Answer List LL3999-1 (required): Complex variant type
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:cytogenomic-nomenclature	Σ	0..1	BackboneElement	Cytogenomic Nomenclature
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 ISCN 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: (unbound) (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.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:variant-inheritance	Σ	0..1	BackboneElement	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	Type of component observation (code / type) 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
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: variant-inheritance
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: Variant Inheritance (extensible): Variant Inheritance (Sequence Ontology)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:pathogenicity	SΣ	0..1	BackboneElement	Pathogenicity
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. 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: 74019-1
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	CodeableConcept	Actual component result Binding: Pathogenicity Value Set (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.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:actionability	SΣ	0..1	BackboneElement	Impact on patient treatment
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. 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: 93348-1
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	boolean	Actual component result
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:proposed-for-orientation	SΣ	0..1	BackboneElement	Impact on the choice of therapy
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. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/umls
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: C0449889
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	boolean	Actual component result
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:chromosome	SΣ	1..*	BackboneElement	Chromosome
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. 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]	SΣ	1..1	CodeableConcept	Actual component result Binding: Chromosome Value Set (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.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:variant-read-depth	SΣ	1..1	BackboneElement	Alternative allele 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	Type of component observation (code / type) 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: LP232001-0
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]	SΣ	1..1	Quantity	Actual component result
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
Documentation for this format

Terminology Bindings

Path	Conformance	ValueSet / Code	URI
Observation.language	preferred	CommonLanguages Additional Bindings Purpose AllLanguages Max Binding http://hl7.org/fhir/ValueSet/languages from the FHIR Standard
Observation.status	required	ObservationStatus http://hl7.org/fhir/ValueSet/observation-status|4.0.1 from the FHIR Standard
Observation.category	preferred	Pattern: laboratory http://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard
Observation.code	example	Pattern: LOINC code 69548-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.value[x]	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.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:gene-studied.code	example	Pattern: LOINC code 48018-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:gene-studied.value[x]	extensible	HGNC http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc
Observation.component:gene-studied.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:cytogenetic-location.code	example	Pattern: LOINC code 48001-2 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:cytogenetic-location.value[x]	required	CytoBand https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/ValueSet/CytoBand from this IG
Observation.component:cytogenetic-location.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:ref-sequence-assembly.code	example	Pattern: LOINC code 62374-4 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:ref-sequence-assembly.value[x]	extensible	GenomeBuild https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/ValueSet/GenomeBuild from this IG
Observation.component:ref-sequence-assembly.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:dna-chg.code	example	Pattern: LOINC code 48004-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:dna-chg.value[x]	required	HGVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs
Observation.component:dna-chg.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:dna-chg-type.code	example	Pattern: LOINC code 48019-4 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:dna-chg-type.value[x]	extensible	DNAChangeType https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/ValueSet/DNAChangeType from this IG
Observation.component:dna-chg-type.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:functional-annotation.code	example	Pattern: functional-annotation http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:functional-annotation.value[x]	extensible	FunctionalAnnotation http://hl7.org/fhir/uv/genomics-reporting/ValueSet/functional-annotation
Observation.component:functional-annotation.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:variation-code.code	example	Pattern: 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:dbSNP-id.code	example	Pattern: LOINC code 81255-2 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:dbSNP-id.value[x]	example
Observation.component:dbSNP-id.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:genomic-dna-chg.code	example	Pattern: LOINC code 81290-9 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:genomic-dna-chg.value[x]	required	HGVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs
Observation.component:genomic-dna-chg.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:genomic-source-class.code	example	Pattern: 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:amino-acid-chg.code	example	Pattern: LOINC code 48005-3 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:amino-acid-chg.value[x]	required	HGVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs
Observation.component:amino-acid-chg.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:amino-acid-chg-type.code	example	Pattern: LOINC code 48006-1 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:amino-acid-chg-type.value[x]	required	LOINC LL380-7 http://loinc.org/vs/LL380-7
Observation.component:amino-acid-chg-type.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:transcript-ref-seq.code	example	Pattern: LOINC code 51958-7 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:transcript-ref-seq.value[x]	example
Observation.component:transcript-ref-seq.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:genomic-ref-seq.code	example	Pattern: LOINC code 48013-7 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:genomic-ref-seq.value[x]	example
Observation.component:genomic-ref-seq.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:sample-allelic-frequency.code	example	Pattern: 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:allelic-read-depth.code	example	Pattern: 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-state.code	example	Pattern: 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:copy-number.code	example	Pattern: 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:ref-allele.code	example	Pattern: 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:alt-allele.code	example	Pattern: 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:coordinate-system.code	example	Pattern: LOINC code 92822-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:coordinate-system.value[x]	preferred	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:exact-start-end.code	example	Pattern: exact-start-end 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:variant-length.code	example	Pattern: LOINC code 81300-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:variant-length.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:outer-start-end.code	example	Pattern: outer-start-end 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:inner-start-end.code	example	Pattern: inner-start-end 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:chromosome-copy-number-change-type.code	example	Pattern: LOINC code 62378-5 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:chromosome-copy-number-change-type.value[x]	required	LOINC LL1041-4 http://loinc.org/vs/LL1041-4
Observation.component:chromosome-copy-number-change-type.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:arrCGH-ratio.code	example	Pattern: LOINC code 81299-0 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:arrCGH-ratio.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:complex-var-type.code	example	Pattern: LOINC code 81263-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:complex-var-type.value[x]	required	LOINC LL3999-1 http://loinc.org/vs/LL3999-1
Observation.component:complex-var-type.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:cytogenomic-nomenclature.code	example	Pattern: 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:variant-inheritance.code	example	Pattern: variant-inheritance http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:variant-inheritance.value[x]	extensible	VariantInheritance http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-inheritance
Observation.component:variant-inheritance.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:pathogenicity.code	example	Pattern: LOINC code 74019-1 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:pathogenicity.value[x]	required	Pathogenicity https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/ValueSet/Pathogenicity from this IG
Observation.component:pathogenicity.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:actionability.code	example	Pattern: LOINC code 93348-1 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:actionability.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:proposed-for-orientation.code	example	Pattern: C0449889 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:proposed-for-orientation.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:chromosome.code	example	Pattern: LOINC code 48000-4 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:chromosome.value[x]	required	Chromosome https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/ValueSet/Chromosome from this IG
Observation.component:chromosome.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:variant-read-depth.code	example	Pattern: LOINC code LP232001-0 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:variant-read-depth.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard

This structure is derived from Variant

Summary

Mandatory: 12 elements (1 nested mandatory element)
Must-Support: 20 elements

Structures

This structure refers to these other structures:

• Oncology Patient (https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/StructureDefinition/onco-patient)
• Sequencing Analysis (https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/StructureDefinition/sequencing-analysis)

Extensions

This structure refers to these extensions:

• https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/StructureDefinition/strand-bias

Slices

This structure defines the following Slices:

• The element Observation.component is sliced based on the value of pattern:code

Differential View

This structure is derived from Variant

Name	Flags	Card.	Type	Description & Constraints
Observation			Variant
strand-bias	S	0..1	boolean	DNA strand bias URL: https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/StructureDefinition/strand-bias
value[x]		0..1	boolean	Value of extension
subject	S	1..1	Reference(Oncology Patient)	Who and/or what the observation is about
derivedFrom	S	1..1	Reference(Sequencing Analysis)	Analysis from which come this observation
Slices for component		8..*	BackboneElement	Component results Slice: Unordered, Open by pattern:code
component:cytogenetic-location	S	0..1	BackboneElement	Cytogenetic map
value[x]		1..1	CodeableConcept	Actual component result Binding: CytoBand Value Set (required)
component:ref-sequence-assembly	S	1..1	BackboneElement	Reference genome version
value[x]		1..1	CodeableConcept	Actual component result Binding: GenomeBuild Value Set (extensible)
component:dna-chg-type	S	1..1	BackboneElement	Type
value[x]		1..1	CodeableConcept	Concepts in sequence ontology under SO:0002072 (see http://www.sequenceontology.org/browser/current_release/term/SO:0002072) Binding: DNA Change Type Value Set (extensible)
component:genomic-source-class	S	1..1	BackboneElement	Cellular type
value[x]		1..1	CodeableConcept	Germline | Somatic | Fetal | Likely germline | Likely somatic |Likely fetal | Unknown genomic origin | De novo
component:allelic-read-depth	S	1..1	BackboneElement	Depth
value[x]		1..1	Quantity	Actual component result
component:allelic-state	S	0..1	BackboneElement	Zygotia
value[x]		1..1	CodeableConcept	Heteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous
component:ref-allele	S	1..1	BackboneElement	Reference allele
value[x]		1..1	string	Actual component result
component:alt-allele	S	1..1	BackboneElement	Alternative allele
value[x]		1..1	string	Actual component result
component:exact-start-end		0..1	BackboneElement	Exact start-end
value[x]
low	S	1..1	SimpleQuantity	Start position
high	S	1..1	SimpleQuantity	End position
component:pathogenicity	S	0..1	BackboneElement	Pathogenicity
code		1..1	CodeableConcept	Type of component observation (code / type) Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 74019-1
value[x]		0..1	CodeableConcept	Actual component result Binding: Pathogenicity Value Set (required)
component:actionability	S	0..1	BackboneElement	Impact on patient treatment
code		1..1	CodeableConcept	Type of component observation (code / type) Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 93348-1
value[x]		0..1	boolean	Actual component result
component:proposed-for-orientation	S	0..1	BackboneElement	Impact on the choice of therapy
code		1..1	CodeableConcept	Type of component observation (code / type) Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/umls
code		1..1	code	Symbol in syntax defined by the system Fixed Value: C0449889
value[x]		0..1	boolean	Actual component result
component:chromosome	S	1..*	BackboneElement	Chromosome
code		1..1	CodeableConcept	Type of component observation (code / type) Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48000-4
value[x]	S	1..1	CodeableConcept	Actual component result Binding: Chromosome Value Set (required)
component:variant-read-depth	S	1..1	BackboneElement	Alternative allele depth
code		1..1	CodeableConcept	Type of component observation (code / type) Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: LP232001-0
value[x]	S	1..1	Quantity	Actual component result
Documentation for this format

Terminology Bindings (Differential)

Path	Conformance	ValueSet	URI
Observation.component:cytogenetic-location.value[x]	required	CytoBand https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/ValueSet/CytoBand from this IG
Observation.component:ref-sequence-assembly.value[x]	extensible	GenomeBuild https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/ValueSet/GenomeBuild from this IG
Observation.component:dna-chg-type.value[x]	extensible	DNAChangeType https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/ValueSet/DNAChangeType from this IG
Observation.component:pathogenicity.value[x]	required	Pathogenicity https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/ValueSet/Pathogenicity from this IG
Observation.component:chromosome.value[x]	required	Chromosome https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/ValueSet/Chromosome from this IG

Key Elements View

Name	Flags	Card.	Type	Description & Constraints
Observation	C	0..*	Variant	Variant obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created
BodyStructure		0..1	Reference(BodyStructure)	Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite
SecondaryFinding		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: ObservationCategoryCodes (extensible): Codes to denote a guideline or policy statement.when a genetic test result is being shared as a secondary finding.
strand-bias	S	0..1	boolean	DNA strand bias URL: https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/StructureDefinition/strand-bias
extension		0..0
url		1..1	uri	"https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/StructureDefinition/strand-bias"
value[x]		0..1	boolean	Value of extension
modifierExtension	?!	0..*	Extension	Extensions that cannot be ignored
status	?!Σ	1..1	code	registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
category		1..*	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
code		1..1	code	Symbol in syntax defined by the system Fixed Value: laboratory
code	Σ	1..1	CodeableConcept	Genetic variant assessment Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 69548-6
subject	SΣ	1..1	Reference(Oncology Patient)	Who and/or what the observation is about
Slices for effective[x]	Σ	0..1	dateTime	Clinically relevant time/time-period for observation Slice: Unordered, Closed by type:$this
effective[x]:effectiveDateTime	Σ	0..1	dateTime	Clinically relevant time/time-period for observation
performer	Σ	0..1	Reference(Practitioner | Organization | Patient | RelatedPerson)	Who is responsible for the observation
value[x]	ΣC	1..1	CodeableConcept	Present|Absent|No call|Indeterminate Binding: LOINC Answer List LL1971-2 (required): Genetic Variant Assessment
derivedFrom	SΣ	1..1	Reference(Sequencing Analysis)	Analysis from which come this observation
Slices for component	Σ	8..*	BackboneElement	Component results Slice: Unordered, Open by pattern:code
component:All Slices				Content/Rules for all slices
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
component:gene-studied	Σ	0..*	BackboneElement	Gene studied ID
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48018-6
value[x]	Σ	1..1	CodeableConcept	If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. Binding: HGNC (extensible): HGNC: Human Gene Nomenclature Committee
component:cytogenetic-location	SΣ	0..1	BackboneElement	Cytogenetic map
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48001-2
value[x]	Σ	1..1	CodeableConcept	Actual component result Binding: CytoBand Value Set (required)
component:ref-sequence-assembly	SΣ	1..1	BackboneElement	Reference genome version
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 62374-4
value[x]	Σ	1..1	CodeableConcept	Actual component result Binding: GenomeBuild Value Set (extensible)
component:dna-chg	Σ	0..1	BackboneElement	DNA Change - Transcript (cHGVS)
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48004-6
value[x]	Σ	1..1	CodeableConcept	Actual component result Binding: HGVS (required): HGVS: Sequence Variant Nomenclature from the Human Genome Variation Society
component:dna-chg-type	SΣ	1..1	BackboneElement	Type
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48019-4
value[x]	Σ	1..1	CodeableConcept	Concepts in sequence ontology under SO:0002072 (see http://www.sequenceontology.org/browser/current_release/term/SO:0002072) Binding: DNA Change Type Value Set (extensible)
component:functional-annotation	Σ	0..*	BackboneElement	Functional Annotation
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes
code		1..1	code	Symbol in syntax defined by the system Fixed Value: functional-annotation
value[x]	Σ	1..1	CodeableConcept	Concepts in sequence ontology under SO:0001537 (see http://www.sequenceontology.org/browser/current_release/term/SO:0001537) Binding: Functional Annotation (extensible): Functional Annotation (Sequence Ontology)
component:variation-code	Σ	0..1	BackboneElement	Variation Code
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81252-9
value[x]	Σ	1..1	CodeableConcept	Actual component result Binding: (unbound) (example): Binding not yet defined
component:dbSNP-id	Σ	0..1	BackboneElement	dbSNP ID
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81255-2
value[x]	Σ	1..1	CodeableConcept	Actual component result Binding: (unbound) (example): Binding not yet defined
component:genomic-dna-chg	Σ	0..1	BackboneElement	DNA Change - Genomic (gHGVS)
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81290-9
value[x]	Σ	1..1	CodeableConcept	Actual component result Binding: HGVS (required): HGVS: Sequence Variant Nomenclature from the Human Genome Variation Society
component:genomic-source-class	SΣ	1..1	BackboneElement	Cellular type
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48002-0
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): Genomic source class values
component:amino-acid-chg	Σ	0..1	BackboneElement	Amino acid change (pHGVS)
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48005-3
value[x]	Σ	1..1	CodeableConcept	Actual component result Binding: HGVS (required): HGVS: Sequence Variant Nomenclature from the Human Genome Variation Society
component:amino-acid-chg-type	Σ	0..1	BackboneElement	Amino acid change type
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48006-1
value[x]	Σ	1..1	CodeableConcept	Wild type | Deletion | Duplication | Frameshift | Initiating Methionine | Insertion | Insertion and Deletion | Missense | Silent | Stop Codon Mutation Binding: LOINC Answer List LL380-7 (required): Amino acid change type values
component:transcript-ref-seq	Σ	0..1	BackboneElement	Transcript reference sequence ID
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 51958-7
value[x]	Σ	1..1	CodeableConcept	Actual component result Binding: (unbound) (example): Binding not yet defined
component:genomic-ref-seq	Σ	0..1	BackboneElement	Genomic reference sequence ID
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48013-7
value[x]	Σ	1..1	CodeableConcept	Actual component result Binding: (unbound) (example): Binding not yet defined
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	Sample Sample VAF Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81258-6
value[x]	Σ	1..1	Quantity	Actual component result
value	Σ	1..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.
system	ΣC	1..1	uri	System that defines coded unit form Fixed Value: http://unitsofmeasure.org
component:allelic-read-depth	SΣ	1..1	BackboneElement	Depth
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 82121-5
value[x]	Σ	1..1	Quantity	Actual component result
component:allelic-state	SΣ	0..1	BackboneElement	Zygotia
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 53034-5
value[x]	Σ	1..1	CodeableConcept	Heteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous Binding: LOINC Answer List LL381-5 (extensible): Allelic state type values
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	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 82155-3
value[x]	C	1..1	Count	A measured or measurable amount cnt-3: There SHALL be a code with a value of "1" if there is a value. If system is present, it SHALL be UCUM. If present, the value SHALL be a whole number. qty-3: If a code for the unit is present, the system SHALL also be present
component:ref-allele	SΣ	1..1	BackboneElement	Reference allele
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 69547-8
value[x]	Σ	1..1	string	Actual component result
component:alt-allele	SΣ	1..1	BackboneElement	Alternative allele
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 69551-0
value[x]	Σ	1..1	string	Actual component result
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	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 92822-6
value[x]	Σ	1..1	CodeableConcept	0-based interval | 0-based character | 1-based character Binding: LOINC Answer List LL5323-2 (preferred): Base coordinate systems start and end measurements for variants
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	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes
code		1..1	code	Symbol in syntax defined by the system Fixed Value: exact-start-end
value[x]	Σ	1..1	Range	Actual component result
low	SΣ	1..1	SimpleQuantity	Start position
high	SΣ	1..1	SimpleQuantity	End position
component:variant-length	Σ	0..1	BackboneElement	Structural variant length
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81300-6
value[x]	C	1..1	Count	A measured or measurable amount cnt-3: There SHALL be a code with a value of "1" if there is a value. If system is present, it SHALL be UCUM. If present, the value SHALL be a whole number. qty-3: If a code for the unit is present, the system SHALL also be present
component:outer-start-end	Σ	0..1	BackboneElement	Variant outer start and end
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes
code		1..1	code	Symbol in syntax defined by the system Fixed Value: outer-start-end
value[x]	Σ	1..1	Range	Actual component result
low	Σ	1..1	SimpleQuantity	Low limit
high	Σ	1..1	SimpleQuantity	High limit
component:inner-start-end	Σ	0..1	BackboneElement	Variant inner start and end
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes
code		1..1	code	Symbol in syntax defined by the system Fixed Value: inner-start-end
value[x]	Σ	1..1	Range	Actual component result
low	Σ	1..1	SimpleQuantity	Low limit
high	Σ	1..1	SimpleQuantity	High limit
component:chromosome-copy-number-change-type	Σ	0..1	BackboneElement	Chromosome copy number change type
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 62378-5
value[x]	Σ	1..1	CodeableConcept	Copy number gain | Copy number loss Binding: LOINC Answer List LL1041-4 (required): Copy Number Change Types
component:arrCGH-ratio	Σ	0..1	BackboneElement	Structural variant reported arrCGH [Ratio]
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81299-0
value[x]	C	1..1	SimpleQuantity	A fixed quantity (no comparator) qty-3: If a code for the unit is present, the system SHALL also be present sqty-1: The comparator is not used on a SimpleQuantity
component:complex-var-type	Σ	0..1	BackboneElement	Complex variant type
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81263-6
value[x]	Σ	1..1	CodeableConcept	Compound heterozygous | Double heterozygous | Haplotype | Hemizygous Binding: LOINC Answer List LL3999-1 (required): Complex variant type
component:cytogenomic-nomenclature	Σ	0..1	BackboneElement	Cytogenomic Nomenclature
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Variant ISCN Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81291-7
value[x]	Σ	1..1	CodeableConcept	Actual component result Binding: (unbound) (example): Binding not yet defined
component:variant-inheritance	Σ	0..1	BackboneElement	Variant Inheritance
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes
code		1..1	code	Symbol in syntax defined by the system Fixed Value: variant-inheritance
value[x]	Σ	1..1	CodeableConcept	Actual component result Binding: Variant Inheritance (extensible): Variant Inheritance (Sequence Ontology)
component:pathogenicity	SΣ	0..1	BackboneElement	Pathogenicity
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 74019-1
value[x]	Σ	0..1	CodeableConcept	Actual component result Binding: Pathogenicity Value Set (required)
component:actionability	SΣ	0..1	BackboneElement	Impact on patient treatment
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 93348-1
value[x]	Σ	0..1	boolean	Actual component result
component:proposed-for-orientation	SΣ	0..1	BackboneElement	Impact on the choice of therapy
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/umls
code		1..1	code	Symbol in syntax defined by the system Fixed Value: C0449889
value[x]	Σ	0..1	boolean	Actual component result
component:chromosome	SΣ	1..*	BackboneElement	Chromosome
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48000-4
value[x]	SΣ	1..1	CodeableConcept	Actual component result Binding: Chromosome Value Set (required)
component:variant-read-depth	SΣ	1..1	BackboneElement	Alternative allele depth
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. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: LP232001-0
value[x]	SΣ	1..1	Quantity	Actual component result
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	Pattern: laboratory http://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard
Observation.code	example	Pattern: LOINC code 69548-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.value[x]	required	LOINC LL1971-2 http://loinc.org/vs/LL1971-2
Observation.component.code	example	LOINCCodes (a valid code from LOINC) http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:gene-studied.code	example	Pattern: LOINC code 48018-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:gene-studied.value[x]	extensible	HGNC http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc
Observation.component:cytogenetic-location.code	example	Pattern: LOINC code 48001-2 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:cytogenetic-location.value[x]	required	CytoBand https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/ValueSet/CytoBand from this IG
Observation.component:ref-sequence-assembly.code	example	Pattern: LOINC code 62374-4 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:ref-sequence-assembly.value[x]	extensible	GenomeBuild https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/ValueSet/GenomeBuild from this IG
Observation.component:dna-chg.code	example	Pattern: LOINC code 48004-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:dna-chg.value[x]	required	HGVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs
Observation.component:dna-chg-type.code	example	Pattern: LOINC code 48019-4 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:dna-chg-type.value[x]	extensible	DNAChangeType https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/ValueSet/DNAChangeType from this IG
Observation.component:functional-annotation.code	example	Pattern: functional-annotation http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:functional-annotation.value[x]	extensible	FunctionalAnnotation http://hl7.org/fhir/uv/genomics-reporting/ValueSet/functional-annotation
Observation.component:variation-code.code	example	Pattern: LOINC code 81252-9 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:variation-code.value[x]	example
Observation.component:dbSNP-id.code	example	Pattern: LOINC code 81255-2 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:dbSNP-id.value[x]	example
Observation.component:genomic-dna-chg.code	example	Pattern: LOINC code 81290-9 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:genomic-dna-chg.value[x]	required	HGVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs
Observation.component:genomic-source-class.code	example	Pattern: 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:amino-acid-chg.code	example	Pattern: LOINC code 48005-3 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:amino-acid-chg.value[x]	required	HGVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs
Observation.component:amino-acid-chg-type.code	example	Pattern: LOINC code 48006-1 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:amino-acid-chg-type.value[x]	required	LOINC LL380-7 http://loinc.org/vs/LL380-7
Observation.component:transcript-ref-seq.code	example	Pattern: LOINC code 51958-7 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:transcript-ref-seq.value[x]	example
Observation.component:genomic-ref-seq.code	example	Pattern: LOINC code 48013-7 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:genomic-ref-seq.value[x]	example
Observation.component:sample-allelic-frequency.code	example	Pattern: 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:allelic-read-depth.code	example	Pattern: LOINC code 82121-5 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:allelic-state.code	example	Pattern: 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:copy-number.code	example	Pattern: LOINC code 82155-3 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:ref-allele.code	example	Pattern: LOINC code 69547-8 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:alt-allele.code	example	Pattern: LOINC code 69551-0 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:coordinate-system.code	example	Pattern: LOINC code 92822-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:coordinate-system.value[x]	preferred	LOINC LL5323-2 http://loinc.org/vs/LL5323-2
Observation.component:exact-start-end.code	example	Pattern: exact-start-end http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:variant-length.code	example	Pattern: LOINC code 81300-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:outer-start-end.code	example	Pattern: outer-start-end http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:inner-start-end.code	example	Pattern: inner-start-end http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:chromosome-copy-number-change-type.code	example	Pattern: LOINC code 62378-5 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:chromosome-copy-number-change-type.value[x]	required	LOINC LL1041-4 http://loinc.org/vs/LL1041-4
Observation.component:arrCGH-ratio.code	example	Pattern: LOINC code 81299-0 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:complex-var-type.code	example	Pattern: LOINC code 81263-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:complex-var-type.value[x]	required	LOINC LL3999-1 http://loinc.org/vs/LL3999-1
Observation.component:cytogenomic-nomenclature.code	example	Pattern: LOINC code 81291-7 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:cytogenomic-nomenclature.value[x]	example
Observation.component:variant-inheritance.code	example	Pattern: variant-inheritance http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:variant-inheritance.value[x]	extensible	VariantInheritance http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-inheritance
Observation.component:pathogenicity.code	example	Pattern: LOINC code 74019-1 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:pathogenicity.value[x]	required	Pathogenicity https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/ValueSet/Pathogenicity from this IG
Observation.component:actionability.code	example	Pattern: LOINC code 93348-1 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:proposed-for-orientation.code	example	Pattern: C0449889 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:chromosome.code	example	Pattern: LOINC code 48000-4 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:chromosome.value[x]	required	Chromosome https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/ValueSet/Chromosome from this IG
Observation.component:variant-read-depth.code	example	Pattern: LOINC code LP232001-0 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard

Snapshot View

Name	Flags	Card.	Type	Description & Constraints
Observation	C	0..*	Variant	Variant obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present
id	Σ	0..1	id	Logical id of this artifact
meta	Σ	0..1	Meta	Metadata about the resource
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created
language		0..1	code	Language of the resource content Binding: CommonLanguages (preferred): A human language. Additional Bindings Purpose AllLanguages Max Binding
text		0..1	Narrative	Text summary of the resource, for human interpretation
contained		0..*	Resource	Contained, inline Resources
Slices for extension		0..*	Extension	Extension Slice: Unordered, Open by value:url
BodyStructure		0..1	Reference(BodyStructure)	Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite
SecondaryFinding		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: ObservationCategoryCodes (extensible): Codes to denote a guideline or policy statement.when a genetic test result is being shared as a secondary finding.
strand-bias	S	0..1	boolean	DNA strand bias URL: https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/StructureDefinition/strand-bias
id		0..1	string	Unique id for inter-element referencing
extension		0..0
url		1..1	uri	"https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/StructureDefinition/strand-bias"
value[x]		0..1	boolean	Value of extension
modifierExtension	?!	0..*	Extension	Extensions that cannot be ignored
identifier	Σ	0..*	Identifier	Business Identifier for observation
basedOn	Σ	0..*	Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest)	Fulfills plan, proposal or order
partOf	Σ	0..*	Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy)	Part of referenced event
status	?!Σ	1..1	code	registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
category		1..*	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: laboratory
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
code	Σ	1..1	CodeableConcept	Genetic variant assessment 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(Oncology Patient)	Who and/or what the observation is about
focus	Σ	0..*	Reference(Resource)	What the observation is about, when it is not about the subject of record
encounter	Σ	0..1	Reference(Encounter)	Healthcare event during which this observation is made
Slices for effective[x]	Σ	0..1	dateTime	Clinically relevant time/time-period for observation Slice: Unordered, Closed by type:$this
effective[x]:effectiveDateTime	Σ	0..1	dateTime	Clinically relevant time/time-period for observation
issued	Σ	0..1	instant	Date/Time this version was made available
performer	Σ	0..1	Reference(Practitioner | Organization | Patient | RelatedPerson)	Who is responsible for the observation
value[x]	ΣC	1..1	CodeableConcept	Present|Absent|No call|Indeterminate Binding: LOINC Answer List LL1971-2 (required): Genetic Variant Assessment
dataAbsentReason	C	0..1	CodeableConcept	Why the result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
note		0..*	Annotation	Comments about the observation
bodySite		0..1	CodeableConcept	Observed body part Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.
method		0..1	CodeableConcept	Sequencing | Oligo aCGH | SNP array | BAC aCGH |Curated|+ Binding: LOINC Answer List LL4048-6 (extensible): Variant analysis method type
specimen		0..1	Reference(Specimen)	Specimen examined
device		0..1	Reference(Device | DeviceMetric)	(Measurement) Device
referenceRange	C	0..*	BackboneElement	Provides guide for interpretation obs-3: Must have at least a low or a high or text
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
low	C	0..1	SimpleQuantity	Low Range, if relevant
high	C	0..1	SimpleQuantity	High Range, if relevant
type		0..1	CodeableConcept	Reference range qualifier Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range.
appliesTo		0..*	CodeableConcept	Reference range population Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to.
age		0..1	Range	Applicable age range, if relevant
text		0..1	string	Text based reference range in an observation
hasMember	Σ	0..*	Reference(Observation | QuestionnaireResponse | MolecularSequence)	Related resource that belongs to the Observation group
derivedFrom	SΣ	1..1	Reference(Sequencing Analysis)	Analysis from which come this observation
Slices for component	Σ	8..*	BackboneElement	Component results Slice: Unordered, Open by pattern:code
component:All Slices				Content/Rules for all slices
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
value[x]	Σ	0..1		Actual component result
valueQuantity			Quantity
valueCodeableConcept			CodeableConcept
valueString			string
valueBoolean			boolean
valueInteger			integer
valueRange			Range
valueRatio			Ratio
valueSampledData			SampledData
valueTime			time
valueDateTime			dateTime
valuePeriod			Period
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:gene-studied	Σ	0..*	BackboneElement	Gene studied ID
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) 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	If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. Binding: HGNC (extensible): HGNC: Human Gene Nomenclature Committee
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:cytogenetic-location	SΣ	0..1	BackboneElement	Cytogenetic map
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. 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	Actual component result Binding: CytoBand Value Set (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.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:ref-sequence-assembly	SΣ	1..1	BackboneElement	Reference genome version
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. 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	Actual component result Binding: GenomeBuild Value Set (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.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:dna-chg	Σ	0..1	BackboneElement	DNA Change - Transcript (cHGVS)
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. 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	Actual component result Binding: HGVS (required): HGVS: Sequence Variant Nomenclature from the Human Genome Variation Society
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:dna-chg-type	SΣ	1..1	BackboneElement	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	Type of component observation (code / type) 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	Concepts in sequence ontology under SO:0002072 (see http://www.sequenceontology.org/browser/current_release/term/SO:0002072) Binding: DNA Change Type Value Set (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.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:functional-annotation	Σ	0..*	BackboneElement	Functional Annotation
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. 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
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: functional-annotation
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	Concepts in sequence ontology under SO:0001537 (see http://www.sequenceontology.org/browser/current_release/term/SO:0001537) Binding: Functional Annotation (extensible): Functional Annotation (Sequence Ontology)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:variation-code	Σ	0..1	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	Type of component observation (code / type) 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	Actual component result Binding: (unbound) (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.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:dbSNP-id	Σ	0..1	BackboneElement	dbSNP ID
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) 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: 81255-2
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	Actual component result Binding: (unbound) (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.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:genomic-dna-chg	Σ	0..1	BackboneElement	DNA Change - Genomic (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	Type of component observation (code / type) 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	Actual component result Binding: HGVS (required): HGVS: Sequence Variant Nomenclature from the Human Genome Variation Society
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:genomic-source-class	SΣ	1..1	BackboneElement	Cellular 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	Type of component observation (code / type) 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): Genomic source class values
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:amino-acid-chg	Σ	0..1	BackboneElement	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	Type of component observation (code / type) 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	Actual component result Binding: HGVS (required): HGVS: Sequence Variant Nomenclature from the Human Genome Variation Society
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:amino-acid-chg-type	Σ	0..1	BackboneElement	Amino acid 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	Type of component observation (code / type) 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: 48006-1
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	Wild type | Deletion | Duplication | Frameshift | Initiating Methionine | Insertion | Insertion and Deletion | Missense | Silent | Stop Codon Mutation Binding: LOINC Answer List LL380-7 (required): Amino acid change type values
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:transcript-ref-seq	Σ	0..1	BackboneElement	Transcript reference sequence ID
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) 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	Actual component result Binding: (unbound) (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.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:genomic-ref-seq	Σ	0..1	BackboneElement	Genomic reference sequence ID
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) 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	Actual component result Binding: (unbound) (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.
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	Sample Sample VAF 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	1..1	Quantity	Actual component result
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	1..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	1..1	uri	System that defines coded unit form Fixed Value: 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.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:allelic-read-depth	SΣ	1..1	BackboneElement	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	Type of component observation (code / type) 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	1..1	Quantity	Actual component result
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:allelic-state	SΣ	0..1	BackboneElement	Zygotia
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. 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): Allelic state type values
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
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	Type of component observation (code / type) 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]	C	1..1	Count	A measured or measurable amount cnt-3: There SHALL be a code with a value of "1" if there is a value. If system is present, it SHALL be UCUM. If present, the value SHALL be a whole number. qty-3: If a code for the unit is present, the system SHALL also be present
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:ref-allele	SΣ	1..1	BackboneElement	Reference 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	Type of component observation (code / type) 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	1..1	string	Actual component result
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:alt-allele	SΣ	1..1	BackboneElement	Alternative 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	Type of component observation (code / type) 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	1..1	string	Actual component result
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
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	Type of component observation (code / type) 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 | 0-based character | 1-based character Binding: LOINC Answer List LL5323-2 (preferred): Base coordinate systems start and end measurements for 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.
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	Type of component observation (code / type) 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
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: exact-start-end
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	Range	Actual component result
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
low	SΣ	1..1	SimpleQuantity	Start position
high	SΣ	1..1	SimpleQuantity	End position
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:variant-length	Σ	0..1	BackboneElement	Structural variant length
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. 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: 81300-6
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]	C	1..1	Count	A measured or measurable amount cnt-3: There SHALL be a code with a value of "1" if there is a value. If system is present, it SHALL be UCUM. If present, the value SHALL be a whole number. qty-3: If a code for the unit is present, the system SHALL also be present
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:outer-start-end	Σ	0..1	BackboneElement	Variant outer start and 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	Type of component observation (code / type) 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
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: outer-start-end
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	Range	Actual component result
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
low	Σ	1..1	SimpleQuantity	Low limit
high	Σ	1..1	SimpleQuantity	High limit
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:inner-start-end	Σ	0..1	BackboneElement	Variant inner start and 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	Type of component observation (code / type) 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
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: inner-start-end
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	Range	Actual component result
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
low	Σ	1..1	SimpleQuantity	Low limit
high	Σ	1..1	SimpleQuantity	High limit
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:chromosome-copy-number-change-type	Σ	0..1	BackboneElement	Chromosome copy number 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	Type of component observation (code / type) 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: 62378-5
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	Copy number gain | Copy number loss Binding: LOINC Answer List LL1041-4 (required): Copy Number Change Types
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:arrCGH-ratio	Σ	0..1	BackboneElement	Structural variant reported arrCGH [Ratio]
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. 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: 81299-0
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]	C	1..1	SimpleQuantity	A fixed quantity (no comparator) qty-3: If a code for the unit is present, the system SHALL also be present sqty-1: The comparator is not used on a SimpleQuantity
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:complex-var-type	Σ	0..1	BackboneElement	Complex variant 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	Type of component observation (code / type) 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: 81263-6
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	Compound heterozygous | Double heterozygous | Haplotype | Hemizygous Binding: LOINC Answer List LL3999-1 (required): Complex variant type
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:cytogenomic-nomenclature	Σ	0..1	BackboneElement	Cytogenomic Nomenclature
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 ISCN 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: (unbound) (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.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:variant-inheritance	Σ	0..1	BackboneElement	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	Type of component observation (code / type) 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
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: variant-inheritance
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: Variant Inheritance (extensible): Variant Inheritance (Sequence Ontology)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:pathogenicity	SΣ	0..1	BackboneElement	Pathogenicity
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. 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: 74019-1
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	CodeableConcept	Actual component result Binding: Pathogenicity Value Set (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.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:actionability	SΣ	0..1	BackboneElement	Impact on patient treatment
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. 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: 93348-1
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	boolean	Actual component result
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:proposed-for-orientation	SΣ	0..1	BackboneElement	Impact on the choice of therapy
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. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/umls
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: C0449889
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	boolean	Actual component result
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:chromosome	SΣ	1..*	BackboneElement	Chromosome
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. 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]	SΣ	1..1	CodeableConcept	Actual component result Binding: Chromosome Value Set (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.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:variant-read-depth	SΣ	1..1	BackboneElement	Alternative allele 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	Type of component observation (code / type) 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: LP232001-0
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]	SΣ	1..1	Quantity	Actual component result
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
Documentation for this format

Terminology Bindings

Path	Conformance	ValueSet / Code	URI
Observation.language	preferred	CommonLanguages Additional Bindings Purpose AllLanguages Max Binding http://hl7.org/fhir/ValueSet/languages from the FHIR Standard
Observation.status	required	ObservationStatus http://hl7.org/fhir/ValueSet/observation-status|4.0.1 from the FHIR Standard
Observation.category	preferred	Pattern: laboratory http://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard
Observation.code	example	Pattern: LOINC code 69548-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.value[x]	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.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:gene-studied.code	example	Pattern: LOINC code 48018-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:gene-studied.value[x]	extensible	HGNC http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc
Observation.component:gene-studied.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:cytogenetic-location.code	example	Pattern: LOINC code 48001-2 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:cytogenetic-location.value[x]	required	CytoBand https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/ValueSet/CytoBand from this IG
Observation.component:cytogenetic-location.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:ref-sequence-assembly.code	example	Pattern: LOINC code 62374-4 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:ref-sequence-assembly.value[x]	extensible	GenomeBuild https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/ValueSet/GenomeBuild from this IG
Observation.component:ref-sequence-assembly.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:dna-chg.code	example	Pattern: LOINC code 48004-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:dna-chg.value[x]	required	HGVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs
Observation.component:dna-chg.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:dna-chg-type.code	example	Pattern: LOINC code 48019-4 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:dna-chg-type.value[x]	extensible	DNAChangeType https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/ValueSet/DNAChangeType from this IG
Observation.component:dna-chg-type.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:functional-annotation.code	example	Pattern: functional-annotation http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:functional-annotation.value[x]	extensible	FunctionalAnnotation http://hl7.org/fhir/uv/genomics-reporting/ValueSet/functional-annotation
Observation.component:functional-annotation.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:variation-code.code	example	Pattern: 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:dbSNP-id.code	example	Pattern: LOINC code 81255-2 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:dbSNP-id.value[x]	example
Observation.component:dbSNP-id.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:genomic-dna-chg.code	example	Pattern: LOINC code 81290-9 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:genomic-dna-chg.value[x]	required	HGVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs
Observation.component:genomic-dna-chg.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:genomic-source-class.code	example	Pattern: 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:amino-acid-chg.code	example	Pattern: LOINC code 48005-3 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:amino-acid-chg.value[x]	required	HGVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs
Observation.component:amino-acid-chg.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:amino-acid-chg-type.code	example	Pattern: LOINC code 48006-1 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:amino-acid-chg-type.value[x]	required	LOINC LL380-7 http://loinc.org/vs/LL380-7
Observation.component:amino-acid-chg-type.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:transcript-ref-seq.code	example	Pattern: LOINC code 51958-7 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:transcript-ref-seq.value[x]	example
Observation.component:transcript-ref-seq.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:genomic-ref-seq.code	example	Pattern: LOINC code 48013-7 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:genomic-ref-seq.value[x]	example
Observation.component:genomic-ref-seq.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:sample-allelic-frequency.code	example	Pattern: 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:allelic-read-depth.code	example	Pattern: 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-state.code	example	Pattern: 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:copy-number.code	example	Pattern: 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:ref-allele.code	example	Pattern: 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:alt-allele.code	example	Pattern: 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:coordinate-system.code	example	Pattern: LOINC code 92822-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:coordinate-system.value[x]	preferred	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:exact-start-end.code	example	Pattern: exact-start-end 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:variant-length.code	example	Pattern: LOINC code 81300-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:variant-length.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:outer-start-end.code	example	Pattern: outer-start-end 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:inner-start-end.code	example	Pattern: inner-start-end 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:chromosome-copy-number-change-type.code	example	Pattern: LOINC code 62378-5 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:chromosome-copy-number-change-type.value[x]	required	LOINC LL1041-4 http://loinc.org/vs/LL1041-4
Observation.component:chromosome-copy-number-change-type.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:arrCGH-ratio.code	example	Pattern: LOINC code 81299-0 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:arrCGH-ratio.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:complex-var-type.code	example	Pattern: LOINC code 81263-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:complex-var-type.value[x]	required	LOINC LL3999-1 http://loinc.org/vs/LL3999-1
Observation.component:complex-var-type.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:cytogenomic-nomenclature.code	example	Pattern: 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:variant-inheritance.code	example	Pattern: variant-inheritance http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:variant-inheritance.value[x]	extensible	VariantInheritance http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-inheritance
Observation.component:variant-inheritance.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:pathogenicity.code	example	Pattern: LOINC code 74019-1 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:pathogenicity.value[x]	required	Pathogenicity https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/ValueSet/Pathogenicity from this IG
Observation.component:pathogenicity.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:actionability.code	example	Pattern: LOINC code 93348-1 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:actionability.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:proposed-for-orientation.code	example	Pattern: C0449889 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:proposed-for-orientation.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:chromosome.code	example	Pattern: LOINC code 48000-4 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:chromosome.value[x]	required	Chromosome https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/ValueSet/Chromosome from this IG
Observation.component:chromosome.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:variant-read-depth.code	example	Pattern: LOINC code LP232001-0 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:variant-read-depth.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard

This structure is derived from Variant

Summary

Mandatory: 12 elements (1 nested mandatory element)
Must-Support: 20 elements

Structures

This structure refers to these other structures:

• Oncology Patient (https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/StructureDefinition/onco-patient)
• Sequencing Analysis (https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/StructureDefinition/sequencing-analysis)

Extensions

This structure refers to these extensions:

• https://build.fhir.org/ig/arkhn/arkhn-ig-osiris/StructureDefinition/strand-bias

Slices

This structure defines the following Slices:

• The element Observation.component is sliced based on the value of pattern:code