This page is part of the OSIRIS FHIR Implementation Guide (v1.1.0: Release) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions

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Resource Profile: Variant Annotation

The Annotation profile allows to add information about a SNP, a fusion, an expression or a copy number event. It is generally used to compare variant from a reference genome. There can be multiple instance of Variant Annotation Resource for one instance of SNP, CopyNumber, Expression or Fusion Resource.

Usage:

• Examples for this Resource Profile: Observation/fhir-osiris-annotation-1

Formal Views of Profile Content

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

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

Nom	Drapeaux	Card.	Type	Description et contraintes
Observation	C	0..*	Variant	Variant dom-2: If the resource is contained in another resource, it SHALL NOT contain nested Resources dom-3: If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource dom-4: If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated dom-5: If a resource is contained in another resource, it SHALL NOT have a security label dom-6: A resource should have narrative for robust management 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 ele-1: All FHIR elements must have a @value or children
Slices pour extension				Content/Rules for all slices
extension:BodyStructure		0..1	Reference(BodyStructure)	Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
extension: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: GeneticObservationSecondaryFindings (extensible): Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding. ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
modifierExtension	?!	0..*	Extension	Extensions that cannot be ignored ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
status	?!Σ	1..1	code	registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation. ele-1: All FHIR elements must have a @value or children
category		1..*	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. ele-1: All FHIR elements must have a @value or children 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. ele-1: All FHIR elements must have a @value or children 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	0..1	Reference(Oncology Patient)	Who and/or what the observation is about ele-1: All FHIR elements must have a @value or children
Slices pour effective[x]	Σ	0..1	dateTime	Clinically relevant time/time-period for observation Slice: Unordered, Closed by type:$this ele-1: All FHIR elements must have a @value or children
effective[x]:effectiveDateTime	Σ	0..1	dateTime	Clinically relevant time/time-period for observation ele-1: All FHIR elements must have a @value or children
performer	Σ	0..1	Reference(Practitioner | Organization | Patient | RelatedPerson)	Who is responsible for the observation ele-1: All FHIR elements must have a @value or children
value[x]	ΣC	1..1	CodeableConcept	Present|Absent|No call|Indeterminate Binding: LOINC Answer List LL1971-2 (required): Genetic Variant Assessment ele-1: All FHIR elements must have a @value or children
hasMember	SΣ	2..2	Reference(Genome Entity | Annotation Reference)	Related resource that belongs to the Observation group ele-1: All FHIR elements must have a @value or children
derivedFrom	SΣ	1..2	Reference(Single Nucleotide Polymorphism | Gene Fusion | Gene Expression | Variant Copy Number | 5 Prime Molecular Sequence | 3 Prime Molecular Sequence)	Related measurements the observation is made from Slice: Unordered, Open by pattern:reference ele-1: All FHIR elements must have a @value or children
Slices pour component	Σ	1..*	BackboneElement	Component results Slice: Unordered, Open by pattern:code ele-1: All FHIR elements must have a @value or children
component:All Slices				Content/Rules for all slices
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children
component:gene-studied	SΣ	0..1	BackboneElement	Gene studied ID ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
text	Σ	0..1	string	Gene name ele-1: All FHIR elements must have a @value or children
component:cytogenetic-location	SΣ	0..1	BackboneElement	Gene region ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 Description (No ValueSet): (example): Binding not yet defined ele-1: All FHIR elements must have a @value or children
text	Σ	0..1	string	Gene region ele-1: All FHIR elements must have a @value or children
component:ref-sequence-assembly	Σ	0..*	BackboneElement	Human reference sequence assembly version ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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: LOINC Answer List LL1040-6 (extensible): Human reference sequence NCBI build IDs ele-1: All FHIR elements must have a @value or children
component:dna-chg	SΣ	0..1	BackboneElement	Incidence on the coding region of the gene ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
component:dna-chg-type	SΣ	1..1	BackboneElement	Type of alteration ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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	Type of alteration Binding: Alteration Type Value Set (required) ele-1: All FHIR elements must have a @value or children
coding	SΣ	1..1	Coding	Code defined by a terminology system ele-1: All FHIR elements must have a @value or children
code	Σ	0..1	code	Symbol in syntax defined by the system ele-1: All FHIR elements must have a @value or children
component:functional-annotation	Σ	0..*	BackboneElement	Functional Annotation ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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) ele-1: All FHIR elements must have a @value or children
component:variation-code	Σ	0..1	BackboneElement	Variation Code ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 Description (No ValueSet): (example): Binding not yet defined ele-1: All FHIR elements must have a @value or children
component:dbSNP-id	Σ	0..1	BackboneElement	dbSNP ID ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 Description (No ValueSet): (example): Binding not yet defined ele-1: All FHIR elements must have a @value or children
component:genomic-dna-chg	SΣ	0..1	BackboneElement	Genomic incidence ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
component:genomic-source-class	Σ	0..1	BackboneElement	Genomic source class ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
component:amino-acid-chg	SΣ	0..1	BackboneElement	Incidence on the protein ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
component:amino-acid-chg-type	SΣ	0..1	BackboneElement	Nomenclature of changes at protein-level ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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	Nomenclature of changes at protein-level Binding: LOINC Answer List LL380-7 (required): Amino acid change type values ele-1: All FHIR elements must have a @value or children
component:transcript-ref-seq	Σ	0..1	BackboneElement	Transcript reference sequence ID ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 Description (No ValueSet): (example): Binding not yet defined ele-1: All FHIR elements must have a @value or children
component:genomic-ref-seq	Σ	0..1	BackboneElement	Genomic reference sequence ID ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 Description (No ValueSet): (example): Binding not yet defined ele-1: All FHIR elements must have a @value or children
component:sample-allelic-frequency	Σ	0..1	BackboneElement	Sample Allelic Frequency ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Sample Sample VAF Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
value	Σ	1..1	decimal	Numerical value (with implicit precision) ele-1: All FHIR elements must have a @value or children
comparator	?!Σ	0..1	code	< | <= | >= | > - how to understand the value Binding: QuantityComparator (required): How the Quantity should be understood and represented. ele-1: All FHIR elements must have a @value or children
system	ΣC	1..1	uri	System that defines coded unit form ele-1: All FHIR elements must have a @value or children Fixed Value: http://unitsofmeasure.org
component:allelic-read-depth	Σ	0..*	BackboneElement	Allelic read depth ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
component:allelic-state	Σ	0..1	BackboneElement	Allelic state ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
component:copy-number	Σ	0..1	BackboneElement	Genomic structural variant copy number ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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. ele-1: All FHIR elements must have a @value or children qty-3: If a code for the unit is present, the system SHALL also be present
component:ref-allele	Σ	0..1	BackboneElement	Genomic ref allele ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
component:alt-allele	Σ	0..1	BackboneElement	Genomic alt allele ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
component:coordinate-system	Σ	0..1	BackboneElement	Coordinate System ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
component:exact-start-end	Σ	0..1	BackboneElement	Exact start-end ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
low	Σ	1..1	SimpleQuantity	Exact Start ele-1: All FHIR elements must have a @value or children
component:variant-length	Σ	0..1	BackboneElement	Structural variant length ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
low	Σ	1..1	SimpleQuantity	Low limit ele-1: All FHIR elements must have a @value or children
high	Σ	1..1	SimpleQuantity	High limit ele-1: All FHIR elements must have a @value or children
component:inner-start-end	Σ	0..1	BackboneElement	Variant inner start and end ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
low	Σ	1..1	SimpleQuantity	Low limit ele-1: All FHIR elements must have a @value or children
high	Σ	1..1	SimpleQuantity	High limit ele-1: All FHIR elements must have a @value or children
component:chromosome-copy-number-change-type	Σ	0..1	BackboneElement	Chromosome copy number change type ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
component:arrCGH-ratio	Σ	0..1	BackboneElement	Structural variant reported arrCGH [Ratio] ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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) ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
component:cytogenomic-nomenclature	Σ	0..1	BackboneElement	Cytogenomic Nomenclature ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Variant ISCN Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 Description (No ValueSet): (example): Binding not yet defined ele-1: All FHIR elements must have a @value or children
component:variant-inheritance	Σ	0..1	BackboneElement	Variant Inheritance ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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) ele-1: All FHIR elements must have a @value or children
component:mutation-prediction-software	SΣ	0..1	BackboneElement	Component results ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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: LP91038-7
text	Σ	0..1	string	Plain text representation of the concept ele-1: All FHIR elements must have a @value or children Required Pattern: Prediction software
value[x]	Σ	0..1	CodeableConcept	Prediction software Binding: Mutation prediction Value Set (example) ele-1: All FHIR elements must have a @value or children
component:mutation-prediction-score	SΣ	0..1	BackboneElement	Component results ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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: LP70194-3
text	Σ	0..1	string	Plain text representation of the concept ele-1: All FHIR elements must have a @value or children Required Pattern: Prediction of the variation effect over the protein
value[x]	Σ	0..1	Quantity	Prediction of the variation effect over the protein ele-1: All FHIR elements must have a @value or children
value	Σ	0..1	decimal	Numerical value (with implicit precision) ele-1: All FHIR elements must have a @value or children
comparator	?!Σ	0..1	code	< | <= | >= | > - how to understand the value Binding: QuantityComparator (required): How the Quantity should be understood and represented. ele-1: All FHIR elements must have a @value or children
component:mutation-prediction-evidence-value	SΣ	0..1	BackboneElement	Component results ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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: 93044-6
text	Σ	0..1	string	Plain text representation of the concept ele-1: All FHIR elements must have a @value or children Required Pattern: Confidence score
value[x]	Σ	0..1	string	Confidence score ele-1: All FHIR elements must have a @value or children
component:rna-chg	SΣ	0..1	BackboneElement	Incidence on the transcript ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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
text	Σ	0..1	string	Plain text representation of the concept ele-1: All FHIR elements must have a @value or children Required Pattern: Incidence on the transcript
value[x]	Σ	0..1	CodeableConcept	Actual component result Binding: http://varnomen.hgvs.org (extensible) ele-1: All FHIR elements must have a @value or children
component:on-splicing-site	SΣ	0..1	BackboneElement	Splice site ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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: C0035687
value[x]	Σ	0..1	boolean	Actual component result ele-1: All FHIR elements must have a @value or children
Documentation for this format

Terminology Bindings

Path	Conformité	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]	example
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	LOINC LL1040-6 http://loinc.org/vs/LL1040-6
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]	required	AlterationType https://ig-osiris.cancer.fr/ig/osiris/ValueSet/AlterationType 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:mutation-prediction-software.code	example	Pattern: LOINC Code LP91038-7 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:mutation-prediction-software.value[x]	example	MutationPrediction https://ig-osiris.cancer.fr/ig/osiris/ValueSet/MutationPrediction from this IG
Observation.component:mutation-prediction-score.code	example	Pattern: LOINC Code LP70194-3 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:mutation-prediction-score.value[x].comparator	required	QuantityComparator http://hl7.org/fhir/ValueSet/quantity-comparator|4.0.1 from the FHIR Standard
Observation.component:mutation-prediction-evidence-value.code	example	Pattern: LOINC Code 93044-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:rna-chg.code	example	Pattern: LOINC Code LP232001-0 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:rna-chg.value[x]	extensible	http://varnomen.hgvs.org http://varnomen.hgvs.org
Observation.component:on-splicing-site.code	example	Pattern: C0035687 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard

This structure is derived from Variant

Nom	Drapeaux	Card.	Type	Description et contraintes
Observation		0..*	Variant	Variant
subject	S	0..1	Reference(Oncology Patient)	Who and/or what the observation is about
hasMember	S	2..2	Reference(Genome Entity | Annotation Reference)	Related resource that belongs to the Observation group
derivedFrom	S	1..2	Reference(Single Nucleotide Polymorphism | Gene Fusion | Gene Expression | Variant Copy Number | 5 Prime Molecular Sequence | 3 Prime Molecular Sequence)	Related measurements the observation is made from Slice: Unordered, Open by pattern:reference
component		1..*	BackboneElement	Component results
Slices pour component				Content/Rules for all slices
component:gene-studied	S	0..1	BackboneElement	Gene studied ID
value[x]
coding
code		0..1	code	Symbol in syntax defined by the system
text		0..1	string	Gene name
component:cytogenetic-location	S	0..1	BackboneElement	Gene region
value[x]
text		0..1	string	Gene region
component:dna-chg	S	0..1	BackboneElement	Incidence on the coding region of the gene
value[x]
coding
code		0..1	code	Symbol in syntax defined by the system
component:dna-chg-type	S	1..1	BackboneElement	Type of alteration
value[x]		1..1	CodeableConcept	Type of alteration Binding: Alteration Type Value Set (required)
coding	S	1..1	Coding	Code defined by a terminology system
code		0..1	code	Symbol in syntax defined by the system
component:genomic-dna-chg	S	0..1	BackboneElement	Genomic incidence
value[x]
coding
code		0..1	code	Symbol in syntax defined by the system
component:amino-acid-chg	S	0..1	BackboneElement	Incidence on the protein
value[x]
coding
code		0..1	code	Symbol in syntax defined by the system
component:amino-acid-chg-type	S	0..1	BackboneElement	Nomenclature of changes at protein-level
value[x]		1..1	CodeableConcept	Nomenclature of changes at protein-level
coding
code		0..1	code	Symbol in syntax defined by the system
component:mutation-prediction-software	S	0..1	BackboneElement	Component results
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: LP91038-7
text		0..1	string	Plain text representation of the concept Required Pattern: Prediction software
value[x]		0..1	CodeableConcept	Prediction software Binding: Mutation prediction Value Set (example)
coding
code		0..1	code	Symbol in syntax defined by the system
component:mutation-prediction-score	S	0..1	BackboneElement	Component results
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: LP70194-3
text		0..1	string	Plain text representation of the concept Required Pattern: Prediction of the variation effect over the protein
value[x]		0..1	Quantity	Prediction of the variation effect over the protein
value		0..1	decimal	Numerical value (with implicit precision)
component:mutation-prediction-evidence-value	S	0..1	BackboneElement	Component results
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: 93044-6
text		0..1	string	Plain text representation of the concept Required Pattern: Confidence score
value[x]		0..1	string	Confidence score
component:rna-chg	S	0..1	BackboneElement	Incidence on the transcript
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
text		0..1	string	Plain text representation of the concept Required Pattern: Incidence on the transcript
value[x]		0..1	CodeableConcept	Actual component result Binding: http://varnomen.hgvs.org (extensible)
coding
code		0..1	code	Symbol in syntax defined by the system
component:on-splicing-site	S	0..1	BackboneElement	Splice site
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: C0035687
value[x]		0..1	boolean	Actual component result
Documentation for this format

Terminology Bindings (Differential)

Path	Conformité	ValueSet	URI
Observation.component:dna-chg-type.value[x]	required	AlterationType https://ig-osiris.cancer.fr/ig/osiris/ValueSet/AlterationType from this IG
Observation.component:mutation-prediction-software.value[x]	example	MutationPrediction https://ig-osiris.cancer.fr/ig/osiris/ValueSet/MutationPrediction from this IG
Observation.component:rna-chg.value[x]	extensible	http://varnomen.hgvs.org http://varnomen.hgvs.org

Nom	Drapeaux	Card.	Type	Description et contraintes
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. Bindings Additionnels But AllLanguages Binding Max
text		0..1	Narrative	Text summary of the resource, for human interpretation
contained		0..*	Resource	Contained, inline Resources
Slices pour extension		0..*	Extension	Extension Slice: Unordered, Open by value:url
extension:BodyStructure		0..1	Reference(BodyStructure)	Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite
extension: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: GeneticObservationSecondaryFindings (extensible): Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding.
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	0..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 pour 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	SΣ	2..2	Reference(Genome Entity | Annotation Reference)	Related resource that belongs to the Observation group
derivedFrom	SΣ	1..2	Reference(Single Nucleotide Polymorphism | Gene Fusion | Gene Expression | Variant Copy Number | 5 Prime Molecular Sequence | 3 Prime Molecular Sequence)	Related measurements the observation is made from Slice: Unordered, Open by pattern:reference
Slices pour component	Σ	1..*	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	SΣ	0..1	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
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	0..*	Coding	Code defined by a terminology system
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	Σ	0..1	uri	Identity of the terminology system
version	Σ	0..1	string	Version of the system - if relevant
code	Σ	0..1	code	Symbol in syntax defined by the system
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
text	Σ	0..1	string	Gene name
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	Gene region
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 Description (No ValueSet): (example): Binding not yet defined
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	0..*	Coding	Code defined by a terminology system
text	Σ	0..1	string	Gene region
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	Σ	0..*	BackboneElement	Human reference sequence assembly 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: LOINC Answer List LL1040-6 (extensible): Human reference sequence NCBI build IDs
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	SΣ	0..1	BackboneElement	Incidence on the coding region of the gene
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
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	0..*	Coding	Code defined by a terminology system
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	Σ	0..1	uri	Identity of the terminology system
version	Σ	0..1	string	Version of the system - if relevant
code	Σ	0..1	code	Symbol in syntax defined by the system
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
text	Σ	0..1	string	Plain text representation of the concept
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 of alteration
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	Type of alteration Binding: Alteration Type Value Set (required)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	SΣ	1..1	Coding	Code defined by a terminology system
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	Σ	0..1	uri	Identity of the terminology system
version	Σ	0..1	string	Version of the system - if relevant
code	Σ	0..1	code	Symbol in syntax defined by the system
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
text	Σ	0..1	string	Plain text representation of the concept
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 Description (No ValueSet): (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 Description (No ValueSet): (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	SΣ	0..1	BackboneElement	Genomic incidence
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
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	0..*	Coding	Code defined by a terminology system
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	Σ	0..1	uri	Identity of the terminology system
version	Σ	0..1	string	Version of the system - if relevant
code	Σ	0..1	code	Symbol in syntax defined by the system
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
text	Σ	0..1	string	Plain text representation of the concept
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	Σ	0..1	BackboneElement	Genomic source class
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	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	SΣ	0..1	BackboneElement	Incidence on the protein
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
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	0..*	Coding	Code defined by a terminology system
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	Σ	0..1	uri	Identity of the terminology system
version	Σ	0..1	string	Version of the system - if relevant
code	Σ	0..1	code	Symbol in syntax defined by the system
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
text	Σ	0..1	string	Plain text representation of the concept
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	SΣ	0..1	BackboneElement	Nomenclature of changes at protein-level
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	Nomenclature of changes at protein-level Binding: LOINC Answer List LL380-7 (required): Amino acid change type values
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	0..*	Coding	Code defined by a terminology system
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	Σ	0..1	uri	Identity of the terminology system
version	Σ	0..1	string	Version of the system - if relevant
code	Σ	0..1	code	Symbol in syntax defined by the system
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
text	Σ	0..1	string	Plain text representation of the concept
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 Description (No ValueSet): (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 Description (No ValueSet): (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	Σ	0..*	BackboneElement	Allelic read depth
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	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	Σ	0..1	BackboneElement	Allelic state
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	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	Σ	0..1	BackboneElement	Genomic ref allele
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	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	Σ	0..1	BackboneElement	Genomic alt allele
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	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	Σ	1..1	SimpleQuantity	Exact Start
high	Σ	0..1	SimpleQuantity	Exact End
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 Description (No ValueSet): (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:mutation-prediction-software	SΣ	0..1	BackboneElement	Component results
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: LP91038-7
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
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	0..*	Coding	Code defined by a terminology system
text	Σ	0..1	string	Plain text representation of the concept Required Pattern: Prediction software
value[x]	Σ	0..1	CodeableConcept	Prediction software Binding: Mutation prediction Value Set (example)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	0..*	Coding	Code defined by a terminology system
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	Σ	0..1	uri	Identity of the terminology system
version	Σ	0..1	string	Version of the system - if relevant
code	Σ	0..1	code	Symbol in syntax defined by the system
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
text	Σ	0..1	string	Plain text representation of the concept
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:mutation-prediction-score	SΣ	0..1	BackboneElement	Component results
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: LP70194-3
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
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	0..*	Coding	Code defined by a terminology system
text	Σ	0..1	string	Plain text representation of the concept Required Pattern: Prediction of the variation effect over the protein
value[x]	Σ	0..1	Quantity	Prediction of the variation effect over the protein
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
value	Σ	0..1	decimal	Numerical value (with implicit precision)
comparator	?!Σ	0..1	code	< | <= | >= | > - how to understand the value Binding: QuantityComparator (required): How the Quantity should be understood and represented.
unit	Σ	0..1	string	Unit representation
system	ΣC	0..1	uri	System that defines coded unit form
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:mutation-prediction-evidence-value	SΣ	0..1	BackboneElement	Component results
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: 93044-6
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
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	0..*	Coding	Code defined by a terminology system
text	Σ	0..1	string	Plain text representation of the concept Required Pattern: Confidence score
value[x]	Σ	0..1	string	Confidence score
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:rna-chg	SΣ	0..1	BackboneElement	Incidence on the transcript
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	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
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	0..*	Coding	Code defined by a terminology system
text	Σ	0..1	string	Plain text representation of the concept Required Pattern: Incidence on the transcript
value[x]	Σ	0..1	CodeableConcept	Actual component result Binding: http://varnomen.hgvs.org (extensible)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	0..*	Coding	Code defined by a terminology system
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	Σ	0..1	uri	Identity of the terminology system
version	Σ	0..1	string	Version of the system - if relevant
code	Σ	0..1	code	Symbol in syntax defined by the system
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
text	Σ	0..1	string	Plain text representation of the concept
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:on-splicing-site	SΣ	0..1	BackboneElement	Splice site
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: C0035687
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
Documentation for this format

Terminology Bindings

Path	Conformité	ValueSet / Code	URI
Observation.language	preferred	CommonLanguages http://hl7.org/fhir/ValueSet/languages from the FHIR Standard Bindings Additionnels But AllLanguages Binding Max
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]	example
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	LOINC LL1040-6 http://loinc.org/vs/LL1040-6
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]	required	AlterationType https://ig-osiris.cancer.fr/ig/osiris/ValueSet/AlterationType 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:mutation-prediction-software.code	example	Pattern: LOINC Code LP91038-7 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:mutation-prediction-software.value[x]	example	MutationPrediction https://ig-osiris.cancer.fr/ig/osiris/ValueSet/MutationPrediction from this IG
Observation.component:mutation-prediction-software.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:mutation-prediction-score.code	example	Pattern: LOINC Code LP70194-3 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:mutation-prediction-score.value[x].comparator	required	QuantityComparator http://hl7.org/fhir/ValueSet/quantity-comparator|4.0.1 from the FHIR Standard
Observation.component:mutation-prediction-score.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:mutation-prediction-evidence-value.code	example	Pattern: LOINC Code 93044-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:mutation-prediction-evidence-value.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:rna-chg.code	example	Pattern: LOINC Code LP232001-0 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:rna-chg.value[x]	extensible	http://varnomen.hgvs.org http://varnomen.hgvs.org
Observation.component:rna-chg.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:on-splicing-site.code	example	Pattern: C0035687 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:on-splicing-site.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard

This structure is derived from Variant

Résumé

Mandatory: 4 elements
Must-Support: 16 elements

Structures

This structure refers to these other structures:

• Oncology Patient (https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/onco-patient)
• Genome Entity (https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/genome-entity)
• Annotation Reference (https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/annotation-reference)
• Single Nucleotide Polymorphism (https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/snp)
• Gene Fusion (https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/fusion)
• Gene Expression (https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/expression)
• Variant Copy Number (https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/copy-number)
• 5 Prime Molecular Sequence (https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/molecular-sequence-5-prime)
• 3 Prime Molecular Sequence (https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/molecular-sequence-3-prime)

Slices

This structure defines the following Slices:

• The element 1 is sliced based on the value of Observation.derivedFrom

Key Elements View

Nom	Drapeaux	Card.	Type	Description et contraintes
Observation	C	0..*	Variant	Variant dom-2: If the resource is contained in another resource, it SHALL NOT contain nested Resources dom-3: If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource dom-4: If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated dom-5: If a resource is contained in another resource, it SHALL NOT have a security label dom-6: A resource should have narrative for robust management 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 ele-1: All FHIR elements must have a @value or children
Slices pour extension				Content/Rules for all slices
extension:BodyStructure		0..1	Reference(BodyStructure)	Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
extension: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: GeneticObservationSecondaryFindings (extensible): Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding. ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
modifierExtension	?!	0..*	Extension	Extensions that cannot be ignored ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
status	?!Σ	1..1	code	registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation. ele-1: All FHIR elements must have a @value or children
category		1..*	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. ele-1: All FHIR elements must have a @value or children 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. ele-1: All FHIR elements must have a @value or children 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	0..1	Reference(Oncology Patient)	Who and/or what the observation is about ele-1: All FHIR elements must have a @value or children
Slices pour effective[x]	Σ	0..1	dateTime	Clinically relevant time/time-period for observation Slice: Unordered, Closed by type:$this ele-1: All FHIR elements must have a @value or children
effective[x]:effectiveDateTime	Σ	0..1	dateTime	Clinically relevant time/time-period for observation ele-1: All FHIR elements must have a @value or children
performer	Σ	0..1	Reference(Practitioner | Organization | Patient | RelatedPerson)	Who is responsible for the observation ele-1: All FHIR elements must have a @value or children
value[x]	ΣC	1..1	CodeableConcept	Present|Absent|No call|Indeterminate Binding: LOINC Answer List LL1971-2 (required): Genetic Variant Assessment ele-1: All FHIR elements must have a @value or children
hasMember	SΣ	2..2	Reference(Genome Entity | Annotation Reference)	Related resource that belongs to the Observation group ele-1: All FHIR elements must have a @value or children
derivedFrom	SΣ	1..2	Reference(Single Nucleotide Polymorphism | Gene Fusion | Gene Expression | Variant Copy Number | 5 Prime Molecular Sequence | 3 Prime Molecular Sequence)	Related measurements the observation is made from Slice: Unordered, Open by pattern:reference ele-1: All FHIR elements must have a @value or children
Slices pour component	Σ	1..*	BackboneElement	Component results Slice: Unordered, Open by pattern:code ele-1: All FHIR elements must have a @value or children
component:All Slices				Content/Rules for all slices
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children
component:gene-studied	SΣ	0..1	BackboneElement	Gene studied ID ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
text	Σ	0..1	string	Gene name ele-1: All FHIR elements must have a @value or children
component:cytogenetic-location	SΣ	0..1	BackboneElement	Gene region ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 Description (No ValueSet): (example): Binding not yet defined ele-1: All FHIR elements must have a @value or children
text	Σ	0..1	string	Gene region ele-1: All FHIR elements must have a @value or children
component:ref-sequence-assembly	Σ	0..*	BackboneElement	Human reference sequence assembly version ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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: LOINC Answer List LL1040-6 (extensible): Human reference sequence NCBI build IDs ele-1: All FHIR elements must have a @value or children
component:dna-chg	SΣ	0..1	BackboneElement	Incidence on the coding region of the gene ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
component:dna-chg-type	SΣ	1..1	BackboneElement	Type of alteration ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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	Type of alteration Binding: Alteration Type Value Set (required) ele-1: All FHIR elements must have a @value or children
coding	SΣ	1..1	Coding	Code defined by a terminology system ele-1: All FHIR elements must have a @value or children
code	Σ	0..1	code	Symbol in syntax defined by the system ele-1: All FHIR elements must have a @value or children
component:functional-annotation	Σ	0..*	BackboneElement	Functional Annotation ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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) ele-1: All FHIR elements must have a @value or children
component:variation-code	Σ	0..1	BackboneElement	Variation Code ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 Description (No ValueSet): (example): Binding not yet defined ele-1: All FHIR elements must have a @value or children
component:dbSNP-id	Σ	0..1	BackboneElement	dbSNP ID ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 Description (No ValueSet): (example): Binding not yet defined ele-1: All FHIR elements must have a @value or children
component:genomic-dna-chg	SΣ	0..1	BackboneElement	Genomic incidence ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
component:genomic-source-class	Σ	0..1	BackboneElement	Genomic source class ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
component:amino-acid-chg	SΣ	0..1	BackboneElement	Incidence on the protein ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
component:amino-acid-chg-type	SΣ	0..1	BackboneElement	Nomenclature of changes at protein-level ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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	Nomenclature of changes at protein-level Binding: LOINC Answer List LL380-7 (required): Amino acid change type values ele-1: All FHIR elements must have a @value or children
component:transcript-ref-seq	Σ	0..1	BackboneElement	Transcript reference sequence ID ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 Description (No ValueSet): (example): Binding not yet defined ele-1: All FHIR elements must have a @value or children
component:genomic-ref-seq	Σ	0..1	BackboneElement	Genomic reference sequence ID ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 Description (No ValueSet): (example): Binding not yet defined ele-1: All FHIR elements must have a @value or children
component:sample-allelic-frequency	Σ	0..1	BackboneElement	Sample Allelic Frequency ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Sample Sample VAF Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
value	Σ	1..1	decimal	Numerical value (with implicit precision) ele-1: All FHIR elements must have a @value or children
comparator	?!Σ	0..1	code	< | <= | >= | > - how to understand the value Binding: QuantityComparator (required): How the Quantity should be understood and represented. ele-1: All FHIR elements must have a @value or children
system	ΣC	1..1	uri	System that defines coded unit form ele-1: All FHIR elements must have a @value or children Fixed Value: http://unitsofmeasure.org
component:allelic-read-depth	Σ	0..*	BackboneElement	Allelic read depth ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
component:allelic-state	Σ	0..1	BackboneElement	Allelic state ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
component:copy-number	Σ	0..1	BackboneElement	Genomic structural variant copy number ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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. ele-1: All FHIR elements must have a @value or children qty-3: If a code for the unit is present, the system SHALL also be present
component:ref-allele	Σ	0..1	BackboneElement	Genomic ref allele ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
component:alt-allele	Σ	0..1	BackboneElement	Genomic alt allele ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
component:coordinate-system	Σ	0..1	BackboneElement	Coordinate System ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
component:exact-start-end	Σ	0..1	BackboneElement	Exact start-end ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
low	Σ	1..1	SimpleQuantity	Exact Start ele-1: All FHIR elements must have a @value or children
component:variant-length	Σ	0..1	BackboneElement	Structural variant length ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
low	Σ	1..1	SimpleQuantity	Low limit ele-1: All FHIR elements must have a @value or children
high	Σ	1..1	SimpleQuantity	High limit ele-1: All FHIR elements must have a @value or children
component:inner-start-end	Σ	0..1	BackboneElement	Variant inner start and end ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
low	Σ	1..1	SimpleQuantity	Low limit ele-1: All FHIR elements must have a @value or children
high	Σ	1..1	SimpleQuantity	High limit ele-1: All FHIR elements must have a @value or children
component:chromosome-copy-number-change-type	Σ	0..1	BackboneElement	Chromosome copy number change type ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
component:arrCGH-ratio	Σ	0..1	BackboneElement	Structural variant reported arrCGH [Ratio] ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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) ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 ele-1: All FHIR elements must have a @value or children
component:cytogenomic-nomenclature	Σ	0..1	BackboneElement	Cytogenomic Nomenclature ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Variant ISCN Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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 Description (No ValueSet): (example): Binding not yet defined ele-1: All FHIR elements must have a @value or children
component:variant-inheritance	Σ	0..1	BackboneElement	Variant Inheritance ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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) ele-1: All FHIR elements must have a @value or children
component:mutation-prediction-software	SΣ	0..1	BackboneElement	Component results ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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: LP91038-7
text	Σ	0..1	string	Plain text representation of the concept ele-1: All FHIR elements must have a @value or children Required Pattern: Prediction software
value[x]	Σ	0..1	CodeableConcept	Prediction software Binding: Mutation prediction Value Set (example) ele-1: All FHIR elements must have a @value or children
component:mutation-prediction-score	SΣ	0..1	BackboneElement	Component results ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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: LP70194-3
text	Σ	0..1	string	Plain text representation of the concept ele-1: All FHIR elements must have a @value or children Required Pattern: Prediction of the variation effect over the protein
value[x]	Σ	0..1	Quantity	Prediction of the variation effect over the protein ele-1: All FHIR elements must have a @value or children
value	Σ	0..1	decimal	Numerical value (with implicit precision) ele-1: All FHIR elements must have a @value or children
comparator	?!Σ	0..1	code	< | <= | >= | > - how to understand the value Binding: QuantityComparator (required): How the Quantity should be understood and represented. ele-1: All FHIR elements must have a @value or children
component:mutation-prediction-evidence-value	SΣ	0..1	BackboneElement	Component results ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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: 93044-6
text	Σ	0..1	string	Plain text representation of the concept ele-1: All FHIR elements must have a @value or children Required Pattern: Confidence score
value[x]	Σ	0..1	string	Confidence score ele-1: All FHIR elements must have a @value or children
component:rna-chg	SΣ	0..1	BackboneElement	Incidence on the transcript ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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
text	Σ	0..1	string	Plain text representation of the concept ele-1: All FHIR elements must have a @value or children Required Pattern: Incidence on the transcript
value[x]	Σ	0..1	CodeableConcept	Actual component result Binding: http://varnomen.hgvs.org (extensible) ele-1: All FHIR elements must have a @value or children
component:on-splicing-site	SΣ	0..1	BackboneElement	Splice site ele-1: All FHIR elements must have a @value or children
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized ele-1: All FHIR elements must have a @value or children ext-1: Must have either extensions or value[x], not both
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. ele-1: All FHIR elements must have a @value or children 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: C0035687
value[x]	Σ	0..1	boolean	Actual component result ele-1: All FHIR elements must have a @value or children
Documentation for this format

Terminology Bindings

Path	Conformité	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]	example
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	LOINC LL1040-6 http://loinc.org/vs/LL1040-6
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]	required	AlterationType https://ig-osiris.cancer.fr/ig/osiris/ValueSet/AlterationType 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:mutation-prediction-software.code	example	Pattern: LOINC Code LP91038-7 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:mutation-prediction-software.value[x]	example	MutationPrediction https://ig-osiris.cancer.fr/ig/osiris/ValueSet/MutationPrediction from this IG
Observation.component:mutation-prediction-score.code	example	Pattern: LOINC Code LP70194-3 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:mutation-prediction-score.value[x].comparator	required	QuantityComparator http://hl7.org/fhir/ValueSet/quantity-comparator|4.0.1 from the FHIR Standard
Observation.component:mutation-prediction-evidence-value.code	example	Pattern: LOINC Code 93044-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:rna-chg.code	example	Pattern: LOINC Code LP232001-0 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:rna-chg.value[x]	extensible	http://varnomen.hgvs.org http://varnomen.hgvs.org
Observation.component:on-splicing-site.code	example	Pattern: C0035687 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard

Differential View

This structure is derived from Variant

Nom	Drapeaux	Card.	Type	Description et contraintes
Observation		0..*	Variant	Variant
subject	S	0..1	Reference(Oncology Patient)	Who and/or what the observation is about
hasMember	S	2..2	Reference(Genome Entity | Annotation Reference)	Related resource that belongs to the Observation group
derivedFrom	S	1..2	Reference(Single Nucleotide Polymorphism | Gene Fusion | Gene Expression | Variant Copy Number | 5 Prime Molecular Sequence | 3 Prime Molecular Sequence)	Related measurements the observation is made from Slice: Unordered, Open by pattern:reference
component		1..*	BackboneElement	Component results
Slices pour component				Content/Rules for all slices
component:gene-studied	S	0..1	BackboneElement	Gene studied ID
value[x]
coding
code		0..1	code	Symbol in syntax defined by the system
text		0..1	string	Gene name
component:cytogenetic-location	S	0..1	BackboneElement	Gene region
value[x]
text		0..1	string	Gene region
component:dna-chg	S	0..1	BackboneElement	Incidence on the coding region of the gene
value[x]
coding
code		0..1	code	Symbol in syntax defined by the system
component:dna-chg-type	S	1..1	BackboneElement	Type of alteration
value[x]		1..1	CodeableConcept	Type of alteration Binding: Alteration Type Value Set (required)
coding	S	1..1	Coding	Code defined by a terminology system
code		0..1	code	Symbol in syntax defined by the system
component:genomic-dna-chg	S	0..1	BackboneElement	Genomic incidence
value[x]
coding
code		0..1	code	Symbol in syntax defined by the system
component:amino-acid-chg	S	0..1	BackboneElement	Incidence on the protein
value[x]
coding
code		0..1	code	Symbol in syntax defined by the system
component:amino-acid-chg-type	S	0..1	BackboneElement	Nomenclature of changes at protein-level
value[x]		1..1	CodeableConcept	Nomenclature of changes at protein-level
coding
code		0..1	code	Symbol in syntax defined by the system
component:mutation-prediction-software	S	0..1	BackboneElement	Component results
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: LP91038-7
text		0..1	string	Plain text representation of the concept Required Pattern: Prediction software
value[x]		0..1	CodeableConcept	Prediction software Binding: Mutation prediction Value Set (example)
coding
code		0..1	code	Symbol in syntax defined by the system
component:mutation-prediction-score	S	0..1	BackboneElement	Component results
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: LP70194-3
text		0..1	string	Plain text representation of the concept Required Pattern: Prediction of the variation effect over the protein
value[x]		0..1	Quantity	Prediction of the variation effect over the protein
value		0..1	decimal	Numerical value (with implicit precision)
component:mutation-prediction-evidence-value	S	0..1	BackboneElement	Component results
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: 93044-6
text		0..1	string	Plain text representation of the concept Required Pattern: Confidence score
value[x]		0..1	string	Confidence score
component:rna-chg	S	0..1	BackboneElement	Incidence on the transcript
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
text		0..1	string	Plain text representation of the concept Required Pattern: Incidence on the transcript
value[x]		0..1	CodeableConcept	Actual component result Binding: http://varnomen.hgvs.org (extensible)
coding
code		0..1	code	Symbol in syntax defined by the system
component:on-splicing-site	S	0..1	BackboneElement	Splice site
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: C0035687
value[x]		0..1	boolean	Actual component result
Documentation for this format

Terminology Bindings (Differential)

Path	Conformité	ValueSet	URI
Observation.component:dna-chg-type.value[x]	required	AlterationType https://ig-osiris.cancer.fr/ig/osiris/ValueSet/AlterationType from this IG
Observation.component:mutation-prediction-software.value[x]	example	MutationPrediction https://ig-osiris.cancer.fr/ig/osiris/ValueSet/MutationPrediction from this IG
Observation.component:rna-chg.value[x]	extensible	http://varnomen.hgvs.org http://varnomen.hgvs.org

Snapshot View

Nom	Drapeaux	Card.	Type	Description et contraintes
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. Bindings Additionnels But AllLanguages Binding Max
text		0..1	Narrative	Text summary of the resource, for human interpretation
contained		0..*	Resource	Contained, inline Resources
Slices pour extension		0..*	Extension	Extension Slice: Unordered, Open by value:url
extension:BodyStructure		0..1	Reference(BodyStructure)	Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite
extension: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: GeneticObservationSecondaryFindings (extensible): Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding.
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	0..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 pour 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	SΣ	2..2	Reference(Genome Entity | Annotation Reference)	Related resource that belongs to the Observation group
derivedFrom	SΣ	1..2	Reference(Single Nucleotide Polymorphism | Gene Fusion | Gene Expression | Variant Copy Number | 5 Prime Molecular Sequence | 3 Prime Molecular Sequence)	Related measurements the observation is made from Slice: Unordered, Open by pattern:reference
Slices pour component	Σ	1..*	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	SΣ	0..1	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
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	0..*	Coding	Code defined by a terminology system
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	Σ	0..1	uri	Identity of the terminology system
version	Σ	0..1	string	Version of the system - if relevant
code	Σ	0..1	code	Symbol in syntax defined by the system
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
text	Σ	0..1	string	Gene name
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	Gene region
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 Description (No ValueSet): (example): Binding not yet defined
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	0..*	Coding	Code defined by a terminology system
text	Σ	0..1	string	Gene region
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	Σ	0..*	BackboneElement	Human reference sequence assembly 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: LOINC Answer List LL1040-6 (extensible): Human reference sequence NCBI build IDs
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	SΣ	0..1	BackboneElement	Incidence on the coding region of the gene
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
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	0..*	Coding	Code defined by a terminology system
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	Σ	0..1	uri	Identity of the terminology system
version	Σ	0..1	string	Version of the system - if relevant
code	Σ	0..1	code	Symbol in syntax defined by the system
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
text	Σ	0..1	string	Plain text representation of the concept
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 of alteration
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	Type of alteration Binding: Alteration Type Value Set (required)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	SΣ	1..1	Coding	Code defined by a terminology system
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	Σ	0..1	uri	Identity of the terminology system
version	Σ	0..1	string	Version of the system - if relevant
code	Σ	0..1	code	Symbol in syntax defined by the system
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
text	Σ	0..1	string	Plain text representation of the concept
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 Description (No ValueSet): (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 Description (No ValueSet): (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	SΣ	0..1	BackboneElement	Genomic incidence
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
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	0..*	Coding	Code defined by a terminology system
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	Σ	0..1	uri	Identity of the terminology system
version	Σ	0..1	string	Version of the system - if relevant
code	Σ	0..1	code	Symbol in syntax defined by the system
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
text	Σ	0..1	string	Plain text representation of the concept
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	Σ	0..1	BackboneElement	Genomic source class
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	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	SΣ	0..1	BackboneElement	Incidence on the protein
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
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	0..*	Coding	Code defined by a terminology system
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	Σ	0..1	uri	Identity of the terminology system
version	Σ	0..1	string	Version of the system - if relevant
code	Σ	0..1	code	Symbol in syntax defined by the system
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
text	Σ	0..1	string	Plain text representation of the concept
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	SΣ	0..1	BackboneElement	Nomenclature of changes at protein-level
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	Nomenclature of changes at protein-level Binding: LOINC Answer List LL380-7 (required): Amino acid change type values
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	0..*	Coding	Code defined by a terminology system
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	Σ	0..1	uri	Identity of the terminology system
version	Σ	0..1	string	Version of the system - if relevant
code	Σ	0..1	code	Symbol in syntax defined by the system
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
text	Σ	0..1	string	Plain text representation of the concept
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 Description (No ValueSet): (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 Description (No ValueSet): (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	Σ	0..*	BackboneElement	Allelic read depth
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	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	Σ	0..1	BackboneElement	Allelic state
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	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	Σ	0..1	BackboneElement	Genomic ref allele
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	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	Σ	0..1	BackboneElement	Genomic alt allele
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	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	Σ	1..1	SimpleQuantity	Exact Start
high	Σ	0..1	SimpleQuantity	Exact End
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 Description (No ValueSet): (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:mutation-prediction-software	SΣ	0..1	BackboneElement	Component results
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: LP91038-7
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
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	0..*	Coding	Code defined by a terminology system
text	Σ	0..1	string	Plain text representation of the concept Required Pattern: Prediction software
value[x]	Σ	0..1	CodeableConcept	Prediction software Binding: Mutation prediction Value Set (example)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	0..*	Coding	Code defined by a terminology system
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	Σ	0..1	uri	Identity of the terminology system
version	Σ	0..1	string	Version of the system - if relevant
code	Σ	0..1	code	Symbol in syntax defined by the system
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
text	Σ	0..1	string	Plain text representation of the concept
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:mutation-prediction-score	SΣ	0..1	BackboneElement	Component results
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: LP70194-3
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
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	0..*	Coding	Code defined by a terminology system
text	Σ	0..1	string	Plain text representation of the concept Required Pattern: Prediction of the variation effect over the protein
value[x]	Σ	0..1	Quantity	Prediction of the variation effect over the protein
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
value	Σ	0..1	decimal	Numerical value (with implicit precision)
comparator	?!Σ	0..1	code	< | <= | >= | > - how to understand the value Binding: QuantityComparator (required): How the Quantity should be understood and represented.
unit	Σ	0..1	string	Unit representation
system	ΣC	0..1	uri	System that defines coded unit form
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:mutation-prediction-evidence-value	SΣ	0..1	BackboneElement	Component results
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: 93044-6
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
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	0..*	Coding	Code defined by a terminology system
text	Σ	0..1	string	Plain text representation of the concept Required Pattern: Confidence score
value[x]	Σ	0..1	string	Confidence score
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:rna-chg	SΣ	0..1	BackboneElement	Incidence on the transcript
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	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
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	0..*	Coding	Code defined by a terminology system
text	Σ	0..1	string	Plain text representation of the concept Required Pattern: Incidence on the transcript
value[x]	Σ	0..1	CodeableConcept	Actual component result Binding: http://varnomen.hgvs.org (extensible)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	0..*	Coding	Code defined by a terminology system
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
system	Σ	0..1	uri	Identity of the terminology system
version	Σ	0..1	string	Version of the system - if relevant
code	Σ	0..1	code	Symbol in syntax defined by the system
display	Σ	0..1	string	Representation defined by the system
userSelected	Σ	0..1	boolean	If this coding was chosen directly by the user
text	Σ	0..1	string	Plain text representation of the concept
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:on-splicing-site	SΣ	0..1	BackboneElement	Splice site
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: C0035687
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
Documentation for this format

Terminology Bindings

Path	Conformité	ValueSet / Code	URI
Observation.language	preferred	CommonLanguages http://hl7.org/fhir/ValueSet/languages from the FHIR Standard Bindings Additionnels But AllLanguages Binding Max
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]	example
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	LOINC LL1040-6 http://loinc.org/vs/LL1040-6
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]	required	AlterationType https://ig-osiris.cancer.fr/ig/osiris/ValueSet/AlterationType 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:mutation-prediction-software.code	example	Pattern: LOINC Code LP91038-7 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:mutation-prediction-software.value[x]	example	MutationPrediction https://ig-osiris.cancer.fr/ig/osiris/ValueSet/MutationPrediction from this IG
Observation.component:mutation-prediction-software.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:mutation-prediction-score.code	example	Pattern: LOINC Code LP70194-3 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:mutation-prediction-score.value[x].comparator	required	QuantityComparator http://hl7.org/fhir/ValueSet/quantity-comparator|4.0.1 from the FHIR Standard
Observation.component:mutation-prediction-score.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:mutation-prediction-evidence-value.code	example	Pattern: LOINC Code 93044-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:mutation-prediction-evidence-value.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:rna-chg.code	example	Pattern: LOINC Code LP232001-0 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:rna-chg.value[x]	extensible	http://varnomen.hgvs.org http://varnomen.hgvs.org
Observation.component:rna-chg.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:on-splicing-site.code	example	Pattern: C0035687 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:on-splicing-site.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard

This structure is derived from Variant

Résumé

Mandatory: 4 elements
Must-Support: 16 elements

Structures

This structure refers to these other structures:

• Oncology Patient (https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/onco-patient)
• Genome Entity (https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/genome-entity)
• Annotation Reference (https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/annotation-reference)
• Single Nucleotide Polymorphism (https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/snp)
• Gene Fusion (https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/fusion)
• Gene Expression (https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/expression)
• Variant Copy Number (https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/copy-number)
• 5 Prime Molecular Sequence (https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/molecular-sequence-5-prime)
• 3 Prime Molecular Sequence (https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/molecular-sequence-3-prime)

Slices

This structure defines the following Slices:

• The element 1 is sliced based on the value of Observation.derivedFrom