Phenomics Exchange for Research and Diagnostics, published by HL7 International / Clinical Interoperability Council. This guide is not an authorized publication; it is the continuous build for version 0.1.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/phenomics-exchange-ig/ and changes regularly. See the Directory of published versions

• Content
• Detailed Descriptions
• Mappings
• Examples
• XML
• JSON
• TTL

Resource Profile: Phenopackets Variant

A profile of Genomics Reporting Variant profile that represents relevant phenopackets building blocks.

Usage:

• Refer to this Resource Profile: Phenopackets Genomic Interpretation
• Examples for this Resource Profile: Observation/PhenopacketsVariantExample01

Formal Views of Profile Content

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

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

This structure is derived from Variant

Name	Flags	Card.	Type	Description & Constraints
Observation		0..*	Variant	Variant
Documentation for this format

Name	Flags	Card.	Type	Description & Constraints
Observation	C	0..*	Variant	Variant obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created
Slices for extension				Content/Rules for all slices
secondary-finding		0..1	CodeableConcept	Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement. For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings URL: http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding Binding: GeneticObservationSecondaryFindings (extensible): Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding.
body-structure		0..1	Reference(BodyStructure)	Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite
modifierExtension	?!	0..*	Extension	Extensions that cannot be ignored
status	?!Σ	1..1	code	registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
Slices for category		1..*	CodeableConcept	Classification of type of observation Slice: Unordered, Open by value:coding Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
category:labCategory		1..1	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
coding	Σ	1..*	Coding	Code defined by a terminology system Required Pattern: At least the following
system		1..1	uri	Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
code		1..1	code	Symbol in syntax defined by the system Fixed Value: laboratory
code	Σ	1..1	CodeableConcept	69548-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 69548-6
Slices for value[x]	ΣC	0..1	CodeableConcept	Actual result Slice: Unordered, Closed by type:$this
value[x]:valueCodeableConcept	ΣC	0..1	CodeableConcept	Indeterminate | No call | Present | Absent. Binding: LOINC Answer List LL1971-2 (required)
Slices for component	Σ	0..*	BackboneElement	Component results Slice: Unordered, Open by pattern:code
component:All Slices				Content/Rules for all slices
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
component:conclusion-string	Σ	0..1	BackboneElement	Clinical Conclusion
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	conclusion-string Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
code		1..1	code	Symbol in syntax defined by the system Fixed Value: conclusion-string
component:gene-studied	Σ	0..*	BackboneElement	Gene Studied
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48018-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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	The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible)
component:cytogenetic-location	Σ	0..*	BackboneElement	Cytogenetic (Chromosome) Location
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48001-2 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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	Example: 1q21.1
component:reference-sequence-assembly	Σ	0..*	BackboneElement	Human Reference Sequence Assembly
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	62374-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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	GRCh37 | GRCh38 | ... Binding: LOINC Answer List LL1040-6 (extensible)
component:coding-hgvs	Σ	0..1	BackboneElement	Coding (cDNA) Change - cHGVS
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48004-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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	A valid HGVS-formatted 'c.' string, e.g. NM_005228.5:c.2369C>T. Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
component:genomic-hgvs	Σ	0..1	BackboneElement	Genomic (gDNA) Change - gHGVS
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81290-9 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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	A valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
component:cytogenomic-nomenclature	Σ	0..1	BackboneElement	Cytogenomic Nomenclature (ISCN)
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81291-7 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81291-7
value[x]	Σ	1..1	CodeableConcept	Actual component result Binding: (unbound) (example): Binding not yet defined
component:genomic-ref-seq	Σ	0..1	BackboneElement	Genomic Reference Sequence
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48013-7 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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	Versioned genomic reference sequence identifier Binding: (unbound) (example): Multiple bindings acceptable (NCBI or LRG)
component:transcript-ref-seq	Σ	0..1	BackboneElement	Reference Transcript
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	51958-7 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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	Versioned transcript reference sequence identifier Binding: (unbound) (example): Multiple bindings acceptable (NCBI or LRG)
component:exact-start-end	Σ	0..1	BackboneElement	Exact Start-End
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81254-5 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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: 81254-5
component:inner-start-end	Σ	0..1	BackboneElement	Inner Start-End
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81302-2 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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: 81302-2
component:outer-start-end	Σ	0..1	BackboneElement	Outer Start-End
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81301-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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: 81301-4
component:coordinate-system	Σ	0..1	BackboneElement	Coordinate System
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	92822-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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 counting | 0-based character counting | 1-based character counting Binding: LOINC Answer List LL5323-2 (extensible)
component:ref-allele	Σ	0..1	BackboneElement	Genomic Ref Allele
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	69547-8 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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
component:alt-allele	Σ	0..1	BackboneElement	Genomic Alt Allele
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	69551-0 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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
component:coding-change-type	Σ	0..1	BackboneElement	Coding DNA Change Type
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48019-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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	deletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many) Binding: DNA Change Type (extensible): Concepts in sequence ontology under SO:0002072
component:genomic-source-class	Σ	0..1	BackboneElement	Genomic Source Class
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48002-0 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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)
component:sample-allelic-frequency	Σ	0..1	BackboneElement	Sample Allelic Frequency
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81258-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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
component:allelic-read-depth	Σ	0..1	BackboneElement	Allelic Read Depth
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	82121-5 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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
component:allelic-state	Σ	0..1	BackboneElement	Allelic State
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	53034-5 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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)
component:variant-inheritance	Σ	0..1	BackboneElement	Variant Inheritance
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	variant-inheritance Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
code		1..1	code	Symbol in syntax defined by the system Fixed Value: variant-inheritance
value[x]	Σ	1..1	CodeableConcept	Maternal | Paternal | Unknown Binding: Variant Inheritances (extensible)
component:variation-code	Σ	0..*	BackboneElement	Variation Code
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81252-9 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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	ClinVar ID or similar Binding: (unbound) (example): Multiple bindings acceptable
component:chromosome-identifier	Σ	0..*	BackboneElement	Chromosome Identifier
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48000-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48000-4
value[x]	Σ	1..1	CodeableConcept	Chromosome 1 | Chromosome 2 | ... | Chromosome 22 | Chromosome X | Chromosome Y Binding: LOINC Answer List LL2938-0 (required)
component:protein-hgvs	Σ	0..1	BackboneElement	Protein (Amino Acid) Change - pHGVS
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48005-3 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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	A valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys) Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
component:amino-acid-change-type	Σ	0..1	BackboneElement	Amino Acid Change Type
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48006-1 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48006-1
value[x]	Σ	1..1	CodeableConcept	Wild type | Deletion | Duplication | Frameshift | Initiating Methionine | Insertion | Insertion and Deletion | Missense | Nonsense | Silent Binding: LOINC Answer List LL380-7 (extensible)
component:molecular-consequence	Σ	0..1	BackboneElement	Molecular Consequence
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	molecular-consequence Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
code		1..1	code	Symbol in syntax defined by the system Fixed Value: molecular-consequence
value[x]	Σ	1..1	CodeableConcept	stop_lost | stop_gained | inframe_insertion | frameshift_variant | ... (many) Binding: Molecular Consequence (extensible): Concepts in sequence ontology under SO:0001537.
component:copy-number	Σ	0..1	BackboneElement	Genomic Structural Variant Copy Number
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	82155-3 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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
component:variant-confidence-status	Σ	0..1	BackboneElement	Variant Confidence Status
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	variant-confidence-status Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
code		1..1	code	Symbol in syntax defined by the system Fixed Value: variant-confidence-status
value[x]	Σ	1..1	CodeableConcept	High | Intermediate | Low Binding: Variant Confidence Status (required)
Documentation for this format

Terminology Bindings

Path	Conformance	ValueSet / Code	URI
Observation.status	required	ObservationStatus http://hl7.org/fhir/ValueSet/observation-status|4.0.1 from the FHIR Standard
Observation.category	preferred	ObservationCategoryCodes http://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard
Observation.category:labCategory	preferred	ObservationCategoryCodes http://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard
Observation.code	example	Pattern: LOINC Code 69548-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.value[x]:valueCodeableConcept	required	LOINC LL1971-2 http://loinc.org/vs/LL1971-2
Observation.component.code	example	LOINCCodes (a valid code from LOINC) http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:conclusion-string.code	example	Pattern: conclusion-string http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:gene-studied.code	example	Pattern: LOINC Code 48018-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:gene-studied.value[x]	extensible	HGNCVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs
Observation.component:cytogenetic-location.code	example	Pattern: LOINC Code 48001-2 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:reference-sequence-assembly.code	example	Pattern: LOINC Code 62374-4 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:reference-sequence-assembly.value[x]	extensible	LOINC LL1040-6 http://loinc.org/vs/LL1040-6
Observation.component:coding-hgvs.code	example	Pattern: LOINC Code 48004-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:coding-hgvs.value[x]	required	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:genomic-hgvs.code	example	Pattern: LOINC Code 81290-9 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:genomic-hgvs.value[x]	required	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:cytogenomic-nomenclature.code	example	Pattern: LOINC Code 81291-7 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:cytogenomic-nomenclature.value[x]	example
Observation.component:genomic-ref-seq.code	example	Pattern: 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: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:exact-start-end.code	example	Pattern: LOINC Code 81254-5 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:inner-start-end.code	example	Pattern: LOINC Code 81302-2 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:outer-start-end.code	example	Pattern: LOINC Code 81301-4 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:coordinate-system.code	example	Pattern: LOINC Code 92822-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:coordinate-system.value[x]	extensible	LOINC LL5323-2 http://loinc.org/vs/LL5323-2
Observation.component: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:coding-change-type.code	example	Pattern: LOINC Code 48019-4 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:coding-change-type.value[x]	extensible	DNAChangeTypeVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs
Observation.component:genomic-source-class.code	example	Pattern: LOINC Code 48002-0 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:genomic-source-class.value[x]	extensible	LOINC LL378-1 http://loinc.org/vs/LL378-1
Observation.component:sample-allelic-frequency.code	example	Pattern: LOINC Code 81258-6 http://hl7.org/fhir/ValueSet/observation-codes 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: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	VariantInheritanceVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-inheritance-vs
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:chromosome-identifier.code	example	Pattern: LOINC Code 48000-4 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:chromosome-identifier.value[x]	required	LOINC LL2938-0 http://loinc.org/vs/LL2938-0
Observation.component:protein-hgvs.code	example	Pattern: LOINC Code 48005-3 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:protein-hgvs.value[x]	required	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:amino-acid-change-type.code	example	Pattern: LOINC Code 48006-1 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:amino-acid-change-type.value[x]	extensible	LOINC LL380-7 http://loinc.org/vs/LL380-7
Observation.component:molecular-consequence.code	example	Pattern: molecular-consequence http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:molecular-consequence.value[x]	extensible	MolecularConsequenceVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/molecular-consequence-vs
Observation.component:copy-number.code	example	Pattern: LOINC Code 82155-3 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:variant-confidence-status.code	example	Pattern: variant-confidence-status http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:variant-confidence-status.value[x]	required	VariantConfidenceStatusVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-confidence-status-vs

Constraints

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

Name	Flags	Card.	Type	Description & Constraints
Observation	C	0..*	Variant	Variant obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present
id	Σ	0..1	id	Logical id of this artifact
meta	Σ	0..1	Meta	Metadata about the resource
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created
language		0..1	code	Language of the resource content Binding: CommonLanguages (preferred): A human language. Additional Bindings Purpose AllLanguages Max Binding
text		0..1	Narrative	Text summary of the resource, for human interpretation
contained		0..*	Resource	Contained, inline Resources
Slices for extension		0..*	Extension	Extension Slice: Unordered, Open by value:url
secondary-finding		0..1	CodeableConcept	Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement. For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings URL: http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding Binding: GeneticObservationSecondaryFindings (extensible): Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding.
body-structure		0..1	Reference(BodyStructure)	Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite
modifierExtension	?!	0..*	Extension	Extensions that cannot be ignored
identifier	Σ	0..*	Identifier	Business Identifier for observation
basedOn	Σ	0..*	Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest)	Fulfills plan, proposal or order
partOf	Σ	0..*	Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy)	Part of referenced event
status	?!Σ	1..1	code	registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
Slices for category		1..*	CodeableConcept	Classification of type of observation Slice: Unordered, Open by value:coding Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
category:labCategory		1..1	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	1..*	Coding	Code defined by a terminology system Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: laboratory
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text	Σ	0..1	string	Plain text representation of the concept
code	Σ	1..1	CodeableConcept	69548-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 69548-6
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
subject	Σ	0..1	Reference(Patient | Group | Device | Location)	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
effective[x]	Σ	0..1		Clinically relevant time/time-period for observation
effectiveDateTime			dateTime
effectivePeriod			Period
effectiveTiming			Timing
effectiveInstant			instant
issued	Σ	0..1	instant	Date/Time this version was made available
performer	Σ	0..*	Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson)	Who is responsible for the observation
Slices for value[x]	ΣC	0..1	CodeableConcept	Actual result Slice: Unordered, Closed by type:$this
value[x]:valueCodeableConcept	ΣC	0..1	CodeableConcept	Indeterminate | No call | Present | Absent. Binding: LOINC Answer List LL1971-2 (required)
dataAbsentReason	C	0..1	CodeableConcept	Why the result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
note		0..*	CodedAnnotation	Comments about the Observation that also contain a coded type
bodySite		0..1	CodeableConcept	Observed body part Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.
method		0..1	CodeableConcept	Sequencing | SNP array | PCR | Computational analysis | ... Binding: LOINC Answer List LL4048-6 (extensible)
specimen		0..1	Reference(Specimen)	Specimen used for this observation
device		0..1	Reference(Device | DeviceMetric)	(Measurement) Device
referenceRange	C	0..*	BackboneElement	Provides guide for interpretation obs-3: Must have at least a low or a high or text
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
low	C	0..1	SimpleQuantity	Low Range, if relevant
high	C	0..1	SimpleQuantity	High Range, if relevant
type		0..1	CodeableConcept	Reference range qualifier Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range.
appliesTo		0..*	CodeableConcept	Reference range population Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to.
age		0..1	Range	Applicable age range, if relevant
text		0..1	string	Text based reference range in an observation
hasMember	Σ	0..*	Reference(Observation | QuestionnaireResponse | MolecularSequence)	Related resource that belongs to the Observation group
derivedFrom	Σ	0..*	Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence)	Related measurements the observation is made from
Slices for component	Σ	0..*	BackboneElement	Component results Slice: Unordered, Open by pattern:code
component:All Slices				Content/Rules for all slices
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
value[x]	Σ	0..1		Actual component result
valueQuantity			Quantity
valueCodeableConcept			CodeableConcept
valueString			string
valueBoolean			boolean
valueInteger			integer
valueRange			Range
valueRatio			Ratio
valueSampledData			SampledData
valueTime			time
valueDateTime			dateTime
valuePeriod			Period
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:conclusion-string	Σ	0..1	BackboneElement	Clinical Conclusion
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	conclusion-string Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: conclusion-string
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	0..1	string	Summary conclusion (interpretation/impression)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:gene-studied	Σ	0..*	BackboneElement	Gene Studied
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48018-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48018-6
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:cytogenetic-location	Σ	0..*	BackboneElement	Cytogenetic (Chromosome) Location
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48001-2 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48001-2
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	Example: 1q21.1
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:reference-sequence-assembly	Σ	0..*	BackboneElement	Human Reference Sequence Assembly
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	62374-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 62374-4
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	GRCh37 | GRCh38 | ... Binding: LOINC Answer List LL1040-6 (extensible)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:coding-hgvs	Σ	0..1	BackboneElement	Coding (cDNA) Change - cHGVS
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48004-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48004-6
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	A valid HGVS-formatted 'c.' string, e.g. NM_005228.5:c.2369C>T. Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:genomic-hgvs	Σ	0..1	BackboneElement	Genomic (gDNA) Change - gHGVS
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81290-9 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81290-9
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	A valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:cytogenomic-nomenclature	Σ	0..1	BackboneElement	Cytogenomic Nomenclature (ISCN)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81291-7 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81291-7
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	Actual component result Binding: (unbound) (example): Binding not yet defined
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:genomic-ref-seq	Σ	0..1	BackboneElement	Genomic Reference Sequence
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48013-7 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48013-7
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	Versioned genomic reference sequence identifier Binding: (unbound) (example): Multiple bindings acceptable (NCBI or LRG)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:transcript-ref-seq	Σ	0..1	BackboneElement	Reference Transcript
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	51958-7 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 51958-7
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	Versioned transcript reference sequence identifier Binding: (unbound) (example): Multiple bindings acceptable (NCBI or LRG)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:exact-start-end	Σ	0..1	BackboneElement	Exact Start-End
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81254-5 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81254-5
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	0..1	Range	Range in question. 'High' can be omitted for single nucleotide variants.
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:inner-start-end	Σ	0..1	BackboneElement	Inner Start-End
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81302-2 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81302-2
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	0..1	Range	Imprecise variant inner-bounding range
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:outer-start-end	Σ	0..1	BackboneElement	Outer Start-End
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81301-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81301-4
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	0..1	Range	Imprecise variant outer-bounding range
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:coordinate-system	Σ	0..1	BackboneElement	Coordinate System
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	92822-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 92822-6
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	0-based interval counting | 0-based character counting | 1-based character counting Binding: LOINC Answer List LL5323-2 (extensible)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:ref-allele	Σ	0..1	BackboneElement	Genomic Ref Allele
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	69547-8 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 69547-8
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	0..1	string	Normalized string per the VCF format.
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:alt-allele	Σ	0..1	BackboneElement	Genomic Alt Allele
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	69551-0 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 69551-0
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	0..1	string	Normalized string per the VCF format.
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:coding-change-type	Σ	0..1	BackboneElement	Coding DNA Change Type
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48019-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48019-4
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	deletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many) Binding: DNA Change Type (extensible): Concepts in sequence ontology under SO:0002072
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:genomic-source-class	Σ	0..1	BackboneElement	Genomic Source Class
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48002-0 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48002-0
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	Germline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo Binding: LOINC Answer List LL378-1 (extensible)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:sample-allelic-frequency	Σ	0..1	BackboneElement	Sample Allelic Frequency
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81258-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81258-6
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	0..1	Quantity	Relative frequency in the sample
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
value	Σ	0..1	decimal	Numerical value (with implicit precision)
comparator	?!Σ	0..1	code	< | <= | >= | > - how to understand the value Binding: QuantityComparator (required): How the Quantity should be understood and represented.
unit	Σ	0..1	string	Unit representation
system	ΣC	0..1	uri	System that defines coded unit form Required Pattern: http://unitsofmeasure.org
code	Σ	0..1	code	Coded form of the unit
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:allelic-read-depth	Σ	0..1	BackboneElement	Allelic Read Depth
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	82121-5 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 82121-5
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	0..1	Quantity	Unfiltered count of supporting reads
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:allelic-state	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	53034-5 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 53034-5
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	Heteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous Binding: LOINC Answer List LL381-5 (extensible)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:variant-inheritance	Σ	0..1	BackboneElement	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	variant-inheritance Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: variant-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	Maternal | Paternal | Unknown Binding: Variant Inheritances (extensible)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:variation-code	Σ	0..*	BackboneElement	Variation Code
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81252-9 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81252-9
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	ClinVar ID or similar Binding: (unbound) (example): Multiple bindings acceptable
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:chromosome-identifier	Σ	0..*	BackboneElement	Chromosome Identifier
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48000-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48000-4
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	Chromosome 1 | Chromosome 2 | ... | Chromosome 22 | Chromosome X | Chromosome Y Binding: LOINC Answer List LL2938-0 (required)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:protein-hgvs	Σ	0..1	BackboneElement	Protein (Amino Acid) Change - pHGVS
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48005-3 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48005-3
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	A valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys) Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:amino-acid-change-type	Σ	0..1	BackboneElement	Amino Acid Change Type
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48006-1 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48006-1
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	Wild type | Deletion | Duplication | Frameshift | Initiating Methionine | Insertion | Insertion and Deletion | Missense | Nonsense | Silent Binding: LOINC Answer List LL380-7 (extensible)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:molecular-consequence	Σ	0..1	BackboneElement	Molecular Consequence
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	molecular-consequence Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: molecular-consequence
display		0..1	string	Representation defined by the 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	stop_lost | stop_gained | inframe_insertion | frameshift_variant | ... (many) Binding: Molecular Consequence (extensible): Concepts in sequence ontology under SO:0001537.
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:copy-number	Σ	0..1	BackboneElement	Genomic Structural Variant Copy Number
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	82155-3 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 82155-3
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	ΣC	0..1	Quantity	Actual component result 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.
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:variant-confidence-status	Σ	0..1	BackboneElement	Variant Confidence Status
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	variant-confidence-status Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: variant-confidence-status
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	High | Intermediate | Low Binding: Variant Confidence Status (required)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
Documentation for this format

Terminology Bindings

Path	Conformance	ValueSet / Code	URI
Observation.language	preferred	CommonLanguages Additional Bindings Purpose AllLanguages Max Binding http://hl7.org/fhir/ValueSet/languages from the FHIR Standard
Observation.status	required	ObservationStatus http://hl7.org/fhir/ValueSet/observation-status|4.0.1 from the FHIR Standard
Observation.category	preferred	ObservationCategoryCodes http://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard
Observation.category:labCategory	preferred	ObservationCategoryCodes 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]:valueCodeableConcept	required	LOINC LL1971-2 http://loinc.org/vs/LL1971-2
Observation.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.bodySite	example	SNOMEDCTBodyStructures http://hl7.org/fhir/ValueSet/body-site from the FHIR Standard
Observation.method	extensible	LOINC LL4048-6 http://loinc.org/vs/LL4048-6
Observation.referenceRange.type	preferred	ObservationReferenceRangeMeaningCodes http://hl7.org/fhir/ValueSet/referencerange-meaning from the FHIR Standard
Observation.referenceRange.appliesTo	example	ObservationReferenceRangeAppliesToCodes http://hl7.org/fhir/ValueSet/referencerange-appliesto from the FHIR Standard
Observation.component.code	example	LOINCCodes (a valid code from LOINC) http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:conclusion-string.code	example	Pattern: conclusion-string http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:conclusion-string.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:conclusion-string.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:gene-studied.code	example	Pattern: LOINC Code 48018-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:gene-studied.value[x]	extensible	HGNCVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs
Observation.component:gene-studied.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:gene-studied.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:cytogenetic-location.code	example	Pattern: LOINC Code 48001-2 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:cytogenetic-location.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:cytogenetic-location.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:reference-sequence-assembly.code	example	Pattern: LOINC Code 62374-4 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:reference-sequence-assembly.value[x]	extensible	LOINC LL1040-6 http://loinc.org/vs/LL1040-6
Observation.component:reference-sequence-assembly.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:reference-sequence-assembly.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:coding-hgvs.code	example	Pattern: LOINC Code 48004-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:coding-hgvs.value[x]	required	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:coding-hgvs.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:coding-hgvs.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:genomic-hgvs.code	example	Pattern: LOINC Code 81290-9 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:genomic-hgvs.value[x]	required	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:genomic-hgvs.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:genomic-hgvs.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:cytogenomic-nomenclature.code	example	Pattern: LOINC Code 81291-7 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:cytogenomic-nomenclature.value[x]	example
Observation.component:cytogenomic-nomenclature.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:cytogenomic-nomenclature.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:genomic-ref-seq.code	example	Pattern: LOINC Code 48013-7 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:genomic-ref-seq.value[x]	example
Observation.component:genomic-ref-seq.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:genomic-ref-seq.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component: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:transcript-ref-seq.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:exact-start-end.code	example	Pattern: LOINC Code 81254-5 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:exact-start-end.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:exact-start-end.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:inner-start-end.code	example	Pattern: LOINC Code 81302-2 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:inner-start-end.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:inner-start-end.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:outer-start-end.code	example	Pattern: LOINC Code 81301-4 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:outer-start-end.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:outer-start-end.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:coordinate-system.code	example	Pattern: LOINC Code 92822-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:coordinate-system.value[x]	extensible	LOINC LL5323-2 http://loinc.org/vs/LL5323-2
Observation.component:coordinate-system.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:coordinate-system.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:ref-allele.code	example	Pattern: LOINC Code 69547-8 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:ref-allele.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:ref-allele.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:alt-allele.code	example	Pattern: LOINC Code 69551-0 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:alt-allele.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:alt-allele.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:coding-change-type.code	example	Pattern: LOINC Code 48019-4 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:coding-change-type.value[x]	extensible	DNAChangeTypeVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs
Observation.component:coding-change-type.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:coding-change-type.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:genomic-source-class.code	example	Pattern: LOINC Code 48002-0 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:genomic-source-class.value[x]	extensible	LOINC LL378-1 http://loinc.org/vs/LL378-1
Observation.component:genomic-source-class.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:genomic-source-class.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:sample-allelic-frequency.code	example	Pattern: LOINC Code 81258-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:sample-allelic-frequency.value[x].comparator	required	QuantityComparator http://hl7.org/fhir/ValueSet/quantity-comparator|4.0.1 from the FHIR Standard
Observation.component:sample-allelic-frequency.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:sample-allelic-frequency.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:allelic-read-depth.code	example	Pattern: LOINC Code 82121-5 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:allelic-read-depth.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:allelic-read-depth.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:allelic-state.code	example	Pattern: LOINC Code 53034-5 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:allelic-state.value[x]	extensible	LOINC LL381-5 http://loinc.org/vs/LL381-5
Observation.component:allelic-state.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:allelic-state.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:variant-inheritance.code	example	Pattern: variant-inheritance http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:variant-inheritance.value[x]	extensible	VariantInheritanceVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-inheritance-vs
Observation.component:variant-inheritance.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:variant-inheritance.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component: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:variation-code.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:chromosome-identifier.code	example	Pattern: LOINC Code 48000-4 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:chromosome-identifier.value[x]	required	LOINC LL2938-0 http://loinc.org/vs/LL2938-0
Observation.component:chromosome-identifier.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:chromosome-identifier.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:protein-hgvs.code	example	Pattern: LOINC Code 48005-3 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:protein-hgvs.value[x]	required	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:protein-hgvs.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:protein-hgvs.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:amino-acid-change-type.code	example	Pattern: LOINC Code 48006-1 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:amino-acid-change-type.value[x]	extensible	LOINC LL380-7 http://loinc.org/vs/LL380-7
Observation.component:amino-acid-change-type.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:amino-acid-change-type.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:molecular-consequence.code	example	Pattern: molecular-consequence http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:molecular-consequence.value[x]	extensible	MolecularConsequenceVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/molecular-consequence-vs
Observation.component:molecular-consequence.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:molecular-consequence.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation 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:copy-number.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:variant-confidence-status.code	example	Pattern: variant-confidence-status http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:variant-confidence-status.value[x]	required	VariantConfidenceStatusVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-confidence-status-vs
Observation.component:variant-confidence-status.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:variant-confidence-status.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard

Constraints

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

This structure is derived from Variant

Summary

Differential View

This structure is derived from Variant

Name	Flags	Card.	Type	Description & Constraints
Observation		0..*	Variant	Variant
Documentation for this format

Key Elements View

Name	Flags	Card.	Type	Description & Constraints
Observation	C	0..*	Variant	Variant obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created
Slices for extension				Content/Rules for all slices
secondary-finding		0..1	CodeableConcept	Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement. For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings URL: http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding Binding: GeneticObservationSecondaryFindings (extensible): Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding.
body-structure		0..1	Reference(BodyStructure)	Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite
modifierExtension	?!	0..*	Extension	Extensions that cannot be ignored
status	?!Σ	1..1	code	registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
Slices for category		1..*	CodeableConcept	Classification of type of observation Slice: Unordered, Open by value:coding Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
category:labCategory		1..1	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
coding	Σ	1..*	Coding	Code defined by a terminology system Required Pattern: At least the following
system		1..1	uri	Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
code		1..1	code	Symbol in syntax defined by the system Fixed Value: laboratory
code	Σ	1..1	CodeableConcept	69548-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 69548-6
Slices for value[x]	ΣC	0..1	CodeableConcept	Actual result Slice: Unordered, Closed by type:$this
value[x]:valueCodeableConcept	ΣC	0..1	CodeableConcept	Indeterminate | No call | Present | Absent. Binding: LOINC Answer List LL1971-2 (required)
Slices for component	Σ	0..*	BackboneElement	Component results Slice: Unordered, Open by pattern:code
component:All Slices				Content/Rules for all slices
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
component:conclusion-string	Σ	0..1	BackboneElement	Clinical Conclusion
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	conclusion-string Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
code		1..1	code	Symbol in syntax defined by the system Fixed Value: conclusion-string
component:gene-studied	Σ	0..*	BackboneElement	Gene Studied
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48018-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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	The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible)
component:cytogenetic-location	Σ	0..*	BackboneElement	Cytogenetic (Chromosome) Location
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48001-2 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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	Example: 1q21.1
component:reference-sequence-assembly	Σ	0..*	BackboneElement	Human Reference Sequence Assembly
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	62374-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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	GRCh37 | GRCh38 | ... Binding: LOINC Answer List LL1040-6 (extensible)
component:coding-hgvs	Σ	0..1	BackboneElement	Coding (cDNA) Change - cHGVS
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48004-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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	A valid HGVS-formatted 'c.' string, e.g. NM_005228.5:c.2369C>T. Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
component:genomic-hgvs	Σ	0..1	BackboneElement	Genomic (gDNA) Change - gHGVS
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81290-9 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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	A valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
component:cytogenomic-nomenclature	Σ	0..1	BackboneElement	Cytogenomic Nomenclature (ISCN)
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81291-7 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81291-7
value[x]	Σ	1..1	CodeableConcept	Actual component result Binding: (unbound) (example): Binding not yet defined
component:genomic-ref-seq	Σ	0..1	BackboneElement	Genomic Reference Sequence
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48013-7 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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	Versioned genomic reference sequence identifier Binding: (unbound) (example): Multiple bindings acceptable (NCBI or LRG)
component:transcript-ref-seq	Σ	0..1	BackboneElement	Reference Transcript
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	51958-7 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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	Versioned transcript reference sequence identifier Binding: (unbound) (example): Multiple bindings acceptable (NCBI or LRG)
component:exact-start-end	Σ	0..1	BackboneElement	Exact Start-End
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81254-5 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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: 81254-5
component:inner-start-end	Σ	0..1	BackboneElement	Inner Start-End
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81302-2 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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: 81302-2
component:outer-start-end	Σ	0..1	BackboneElement	Outer Start-End
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81301-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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: 81301-4
component:coordinate-system	Σ	0..1	BackboneElement	Coordinate System
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	92822-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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 counting | 0-based character counting | 1-based character counting Binding: LOINC Answer List LL5323-2 (extensible)
component:ref-allele	Σ	0..1	BackboneElement	Genomic Ref Allele
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	69547-8 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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
component:alt-allele	Σ	0..1	BackboneElement	Genomic Alt Allele
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	69551-0 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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
component:coding-change-type	Σ	0..1	BackboneElement	Coding DNA Change Type
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48019-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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	deletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many) Binding: DNA Change Type (extensible): Concepts in sequence ontology under SO:0002072
component:genomic-source-class	Σ	0..1	BackboneElement	Genomic Source Class
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48002-0 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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)
component:sample-allelic-frequency	Σ	0..1	BackboneElement	Sample Allelic Frequency
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81258-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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
component:allelic-read-depth	Σ	0..1	BackboneElement	Allelic Read Depth
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	82121-5 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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
component:allelic-state	Σ	0..1	BackboneElement	Allelic State
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	53034-5 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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)
component:variant-inheritance	Σ	0..1	BackboneElement	Variant Inheritance
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	variant-inheritance Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
code		1..1	code	Symbol in syntax defined by the system Fixed Value: variant-inheritance
value[x]	Σ	1..1	CodeableConcept	Maternal | Paternal | Unknown Binding: Variant Inheritances (extensible)
component:variation-code	Σ	0..*	BackboneElement	Variation Code
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81252-9 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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	ClinVar ID or similar Binding: (unbound) (example): Multiple bindings acceptable
component:chromosome-identifier	Σ	0..*	BackboneElement	Chromosome Identifier
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48000-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48000-4
value[x]	Σ	1..1	CodeableConcept	Chromosome 1 | Chromosome 2 | ... | Chromosome 22 | Chromosome X | Chromosome Y Binding: LOINC Answer List LL2938-0 (required)
component:protein-hgvs	Σ	0..1	BackboneElement	Protein (Amino Acid) Change - pHGVS
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48005-3 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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	A valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys) Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
component:amino-acid-change-type	Σ	0..1	BackboneElement	Amino Acid Change Type
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48006-1 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48006-1
value[x]	Σ	1..1	CodeableConcept	Wild type | Deletion | Duplication | Frameshift | Initiating Methionine | Insertion | Insertion and Deletion | Missense | Nonsense | Silent Binding: LOINC Answer List LL380-7 (extensible)
component:molecular-consequence	Σ	0..1	BackboneElement	Molecular Consequence
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	molecular-consequence Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
code		1..1	code	Symbol in syntax defined by the system Fixed Value: molecular-consequence
value[x]	Σ	1..1	CodeableConcept	stop_lost | stop_gained | inframe_insertion | frameshift_variant | ... (many) Binding: Molecular Consequence (extensible): Concepts in sequence ontology under SO:0001537.
component:copy-number	Σ	0..1	BackboneElement	Genomic Structural Variant Copy Number
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	82155-3 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
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
component:variant-confidence-status	Σ	0..1	BackboneElement	Variant Confidence Status
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	variant-confidence-status Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
code		1..1	code	Symbol in syntax defined by the system Fixed Value: variant-confidence-status
value[x]	Σ	1..1	CodeableConcept	High | Intermediate | Low Binding: Variant Confidence Status (required)
Documentation for this format

Terminology Bindings

Path	Conformance	ValueSet / Code	URI
Observation.status	required	ObservationStatus http://hl7.org/fhir/ValueSet/observation-status|4.0.1 from the FHIR Standard
Observation.category	preferred	ObservationCategoryCodes http://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard
Observation.category:labCategory	preferred	ObservationCategoryCodes http://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard
Observation.code	example	Pattern: LOINC Code 69548-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.value[x]:valueCodeableConcept	required	LOINC LL1971-2 http://loinc.org/vs/LL1971-2
Observation.component.code	example	LOINCCodes (a valid code from LOINC) http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:conclusion-string.code	example	Pattern: conclusion-string http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:gene-studied.code	example	Pattern: LOINC Code 48018-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:gene-studied.value[x]	extensible	HGNCVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs
Observation.component:cytogenetic-location.code	example	Pattern: LOINC Code 48001-2 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:reference-sequence-assembly.code	example	Pattern: LOINC Code 62374-4 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:reference-sequence-assembly.value[x]	extensible	LOINC LL1040-6 http://loinc.org/vs/LL1040-6
Observation.component:coding-hgvs.code	example	Pattern: LOINC Code 48004-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:coding-hgvs.value[x]	required	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:genomic-hgvs.code	example	Pattern: LOINC Code 81290-9 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:genomic-hgvs.value[x]	required	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:cytogenomic-nomenclature.code	example	Pattern: LOINC Code 81291-7 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:cytogenomic-nomenclature.value[x]	example
Observation.component:genomic-ref-seq.code	example	Pattern: 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: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:exact-start-end.code	example	Pattern: LOINC Code 81254-5 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:inner-start-end.code	example	Pattern: LOINC Code 81302-2 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:outer-start-end.code	example	Pattern: LOINC Code 81301-4 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:coordinate-system.code	example	Pattern: LOINC Code 92822-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:coordinate-system.value[x]	extensible	LOINC LL5323-2 http://loinc.org/vs/LL5323-2
Observation.component: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:coding-change-type.code	example	Pattern: LOINC Code 48019-4 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:coding-change-type.value[x]	extensible	DNAChangeTypeVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs
Observation.component:genomic-source-class.code	example	Pattern: LOINC Code 48002-0 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:genomic-source-class.value[x]	extensible	LOINC LL378-1 http://loinc.org/vs/LL378-1
Observation.component:sample-allelic-frequency.code	example	Pattern: LOINC Code 81258-6 http://hl7.org/fhir/ValueSet/observation-codes 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: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	VariantInheritanceVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-inheritance-vs
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:chromosome-identifier.code	example	Pattern: LOINC Code 48000-4 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:chromosome-identifier.value[x]	required	LOINC LL2938-0 http://loinc.org/vs/LL2938-0
Observation.component:protein-hgvs.code	example	Pattern: LOINC Code 48005-3 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:protein-hgvs.value[x]	required	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:amino-acid-change-type.code	example	Pattern: LOINC Code 48006-1 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:amino-acid-change-type.value[x]	extensible	LOINC LL380-7 http://loinc.org/vs/LL380-7
Observation.component:molecular-consequence.code	example	Pattern: molecular-consequence http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:molecular-consequence.value[x]	extensible	MolecularConsequenceVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/molecular-consequence-vs
Observation.component:copy-number.code	example	Pattern: LOINC Code 82155-3 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:variant-confidence-status.code	example	Pattern: variant-confidence-status http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:variant-confidence-status.value[x]	required	VariantConfidenceStatusVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-confidence-status-vs

Constraints

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

Snapshot View

Name	Flags	Card.	Type	Description & Constraints
Observation	C	0..*	Variant	Variant obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present
id	Σ	0..1	id	Logical id of this artifact
meta	Σ	0..1	Meta	Metadata about the resource
implicitRules	?!Σ	0..1	uri	A set of rules under which this content was created
language		0..1	code	Language of the resource content Binding: CommonLanguages (preferred): A human language. Additional Bindings Purpose AllLanguages Max Binding
text		0..1	Narrative	Text summary of the resource, for human interpretation
contained		0..*	Resource	Contained, inline Resources
Slices for extension		0..*	Extension	Extension Slice: Unordered, Open by value:url
secondary-finding		0..1	CodeableConcept	Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement. For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings URL: http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding Binding: GeneticObservationSecondaryFindings (extensible): Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding.
body-structure		0..1	Reference(BodyStructure)	Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite
modifierExtension	?!	0..*	Extension	Extensions that cannot be ignored
identifier	Σ	0..*	Identifier	Business Identifier for observation
basedOn	Σ	0..*	Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest)	Fulfills plan, proposal or order
partOf	Σ	0..*	Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy)	Part of referenced event
status	?!Σ	1..1	code	registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
Slices for category		1..*	CodeableConcept	Classification of type of observation Slice: Unordered, Open by value:coding Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
category:labCategory		1..1	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
coding	Σ	1..*	Coding	Code defined by a terminology system Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: laboratory
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text	Σ	0..1	string	Plain text representation of the concept
code	Σ	1..1	CodeableConcept	69548-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 69548-6
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
subject	Σ	0..1	Reference(Patient | Group | Device | Location)	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
effective[x]	Σ	0..1		Clinically relevant time/time-period for observation
effectiveDateTime			dateTime
effectivePeriod			Period
effectiveTiming			Timing
effectiveInstant			instant
issued	Σ	0..1	instant	Date/Time this version was made available
performer	Σ	0..*	Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson)	Who is responsible for the observation
Slices for value[x]	ΣC	0..1	CodeableConcept	Actual result Slice: Unordered, Closed by type:$this
value[x]:valueCodeableConcept	ΣC	0..1	CodeableConcept	Indeterminate | No call | Present | Absent. Binding: LOINC Answer List LL1971-2 (required)
dataAbsentReason	C	0..1	CodeableConcept	Why the result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
note		0..*	CodedAnnotation	Comments about the Observation that also contain a coded type
bodySite		0..1	CodeableConcept	Observed body part Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.
method		0..1	CodeableConcept	Sequencing | SNP array | PCR | Computational analysis | ... Binding: LOINC Answer List LL4048-6 (extensible)
specimen		0..1	Reference(Specimen)	Specimen used for this observation
device		0..1	Reference(Device | DeviceMetric)	(Measurement) Device
referenceRange	C	0..*	BackboneElement	Provides guide for interpretation obs-3: Must have at least a low or a high or text
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
low	C	0..1	SimpleQuantity	Low Range, if relevant
high	C	0..1	SimpleQuantity	High Range, if relevant
type		0..1	CodeableConcept	Reference range qualifier Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range.
appliesTo		0..*	CodeableConcept	Reference range population Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to.
age		0..1	Range	Applicable age range, if relevant
text		0..1	string	Text based reference range in an observation
hasMember	Σ	0..*	Reference(Observation | QuestionnaireResponse | MolecularSequence)	Related resource that belongs to the Observation group
derivedFrom	Σ	0..*	Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence)	Related measurements the observation is made from
Slices for component	Σ	0..*	BackboneElement	Component results Slice: Unordered, Open by pattern:code
component:All Slices				Content/Rules for all slices
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
value[x]	Σ	0..1		Actual component result
valueQuantity			Quantity
valueCodeableConcept			CodeableConcept
valueString			string
valueBoolean			boolean
valueInteger			integer
valueRange			Range
valueRatio			Ratio
valueSampledData			SampledData
valueTime			time
valueDateTime			dateTime
valuePeriod			Period
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:conclusion-string	Σ	0..1	BackboneElement	Clinical Conclusion
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	conclusion-string Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: conclusion-string
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	0..1	string	Summary conclusion (interpretation/impression)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:gene-studied	Σ	0..*	BackboneElement	Gene Studied
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48018-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48018-6
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:cytogenetic-location	Σ	0..*	BackboneElement	Cytogenetic (Chromosome) Location
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48001-2 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48001-2
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	Example: 1q21.1
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:reference-sequence-assembly	Σ	0..*	BackboneElement	Human Reference Sequence Assembly
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	62374-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 62374-4
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	GRCh37 | GRCh38 | ... Binding: LOINC Answer List LL1040-6 (extensible)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:coding-hgvs	Σ	0..1	BackboneElement	Coding (cDNA) Change - cHGVS
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48004-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48004-6
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	A valid HGVS-formatted 'c.' string, e.g. NM_005228.5:c.2369C>T. Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:genomic-hgvs	Σ	0..1	BackboneElement	Genomic (gDNA) Change - gHGVS
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81290-9 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81290-9
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	A valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:cytogenomic-nomenclature	Σ	0..1	BackboneElement	Cytogenomic Nomenclature (ISCN)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81291-7 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81291-7
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	Actual component result Binding: (unbound) (example): Binding not yet defined
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:genomic-ref-seq	Σ	0..1	BackboneElement	Genomic Reference Sequence
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48013-7 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48013-7
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	Versioned genomic reference sequence identifier Binding: (unbound) (example): Multiple bindings acceptable (NCBI or LRG)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:transcript-ref-seq	Σ	0..1	BackboneElement	Reference Transcript
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	51958-7 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 51958-7
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	Versioned transcript reference sequence identifier Binding: (unbound) (example): Multiple bindings acceptable (NCBI or LRG)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:exact-start-end	Σ	0..1	BackboneElement	Exact Start-End
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81254-5 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81254-5
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	0..1	Range	Range in question. 'High' can be omitted for single nucleotide variants.
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:inner-start-end	Σ	0..1	BackboneElement	Inner Start-End
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81302-2 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81302-2
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	0..1	Range	Imprecise variant inner-bounding range
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:outer-start-end	Σ	0..1	BackboneElement	Outer Start-End
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81301-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81301-4
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	0..1	Range	Imprecise variant outer-bounding range
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:coordinate-system	Σ	0..1	BackboneElement	Coordinate System
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	92822-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 92822-6
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	0-based interval counting | 0-based character counting | 1-based character counting Binding: LOINC Answer List LL5323-2 (extensible)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:ref-allele	Σ	0..1	BackboneElement	Genomic Ref Allele
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	69547-8 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 69547-8
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	0..1	string	Normalized string per the VCF format.
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:alt-allele	Σ	0..1	BackboneElement	Genomic Alt Allele
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	69551-0 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 69551-0
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	0..1	string	Normalized string per the VCF format.
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:coding-change-type	Σ	0..1	BackboneElement	Coding DNA Change Type
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48019-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48019-4
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	deletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many) Binding: DNA Change Type (extensible): Concepts in sequence ontology under SO:0002072
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:genomic-source-class	Σ	0..1	BackboneElement	Genomic Source Class
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48002-0 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48002-0
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	Germline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo Binding: LOINC Answer List LL378-1 (extensible)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:sample-allelic-frequency	Σ	0..1	BackboneElement	Sample Allelic Frequency
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81258-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81258-6
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	0..1	Quantity	Relative frequency in the sample
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations Slice: Unordered, Open by value:url
value	Σ	0..1	decimal	Numerical value (with implicit precision)
comparator	?!Σ	0..1	code	< | <= | >= | > - how to understand the value Binding: QuantityComparator (required): How the Quantity should be understood and represented.
unit	Σ	0..1	string	Unit representation
system	ΣC	0..1	uri	System that defines coded unit form Required Pattern: http://unitsofmeasure.org
code	Σ	0..1	code	Coded form of the unit
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:allelic-read-depth	Σ	0..1	BackboneElement	Allelic Read Depth
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	82121-5 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 82121-5
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	0..1	Quantity	Unfiltered count of supporting reads
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:allelic-state	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	53034-5 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 53034-5
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	Heteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous Binding: LOINC Answer List LL381-5 (extensible)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:variant-inheritance	Σ	0..1	BackboneElement	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	variant-inheritance Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: variant-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	Maternal | Paternal | Unknown Binding: Variant Inheritances (extensible)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:variation-code	Σ	0..*	BackboneElement	Variation Code
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	81252-9 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 81252-9
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	ClinVar ID or similar Binding: (unbound) (example): Multiple bindings acceptable
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:chromosome-identifier	Σ	0..*	BackboneElement	Chromosome Identifier
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48000-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48000-4
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	Chromosome 1 | Chromosome 2 | ... | Chromosome 22 | Chromosome X | Chromosome Y Binding: LOINC Answer List LL2938-0 (required)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:protein-hgvs	Σ	0..1	BackboneElement	Protein (Amino Acid) Change - pHGVS
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48005-3 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48005-3
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	A valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys) Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:amino-acid-change-type	Σ	0..1	BackboneElement	Amino Acid Change Type
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	48006-1 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 48006-1
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	Wild type | Deletion | Duplication | Frameshift | Initiating Methionine | Insertion | Insertion and Deletion | Missense | Nonsense | Silent Binding: LOINC Answer List LL380-7 (extensible)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:molecular-consequence	Σ	0..1	BackboneElement	Molecular Consequence
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	molecular-consequence Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: molecular-consequence
display		0..1	string	Representation defined by the 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	stop_lost | stop_gained | inframe_insertion | frameshift_variant | ... (many) Binding: Molecular Consequence (extensible): Concepts in sequence ontology under SO:0001537.
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:copy-number	Σ	0..1	BackboneElement	Genomic Structural Variant Copy Number
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	82155-3 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://loinc.org
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: 82155-3
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	ΣC	0..1	Quantity	Actual component result 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.
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
component:variant-confidence-status	Σ	0..1	BackboneElement	Variant Confidence Status
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
modifierExtension	?!Σ	0..*	Extension	Extensions that cannot be ignored even if unrecognized
code	Σ	1..1	CodeableConcept	variant-confidence-status Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
coding		1..*	Coding	Code defined by a terminology system Fixed Value: (complex)
id		0..1	string	Unique id for inter-element referencing
extension		0..*	Extension	Additional content defined by implementations
system		1..1	uri	Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
version		0..1	string	Version of the system - if relevant
code		1..1	code	Symbol in syntax defined by the system Fixed Value: variant-confidence-status
display		0..1	string	Representation defined by the system
userSelected		0..1	boolean	If this coding was chosen directly by the user
text		0..1	string	Plain text representation of the concept
value[x]	Σ	1..1	CodeableConcept	High | Intermediate | Low Binding: Variant Confidence Status (required)
dataAbsentReason	C	0..1	CodeableConcept	Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
interpretation		0..*	CodeableConcept	High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.
referenceRange		0..*	See referenceRange (Observation)	Provides guide for interpretation of component result
Documentation for this format

Terminology Bindings

Path	Conformance	ValueSet / Code	URI
Observation.language	preferred	CommonLanguages Additional Bindings Purpose AllLanguages Max Binding http://hl7.org/fhir/ValueSet/languages from the FHIR Standard
Observation.status	required	ObservationStatus http://hl7.org/fhir/ValueSet/observation-status|4.0.1 from the FHIR Standard
Observation.category	preferred	ObservationCategoryCodes http://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard
Observation.category:labCategory	preferred	ObservationCategoryCodes 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]:valueCodeableConcept	required	LOINC LL1971-2 http://loinc.org/vs/LL1971-2
Observation.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.bodySite	example	SNOMEDCTBodyStructures http://hl7.org/fhir/ValueSet/body-site from the FHIR Standard
Observation.method	extensible	LOINC LL4048-6 http://loinc.org/vs/LL4048-6
Observation.referenceRange.type	preferred	ObservationReferenceRangeMeaningCodes http://hl7.org/fhir/ValueSet/referencerange-meaning from the FHIR Standard
Observation.referenceRange.appliesTo	example	ObservationReferenceRangeAppliesToCodes http://hl7.org/fhir/ValueSet/referencerange-appliesto from the FHIR Standard
Observation.component.code	example	LOINCCodes (a valid code from LOINC) http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:conclusion-string.code	example	Pattern: conclusion-string http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:conclusion-string.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:conclusion-string.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:gene-studied.code	example	Pattern: LOINC Code 48018-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:gene-studied.value[x]	extensible	HGNCVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs
Observation.component:gene-studied.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:gene-studied.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:cytogenetic-location.code	example	Pattern: LOINC Code 48001-2 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:cytogenetic-location.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:cytogenetic-location.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:reference-sequence-assembly.code	example	Pattern: LOINC Code 62374-4 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:reference-sequence-assembly.value[x]	extensible	LOINC LL1040-6 http://loinc.org/vs/LL1040-6
Observation.component:reference-sequence-assembly.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:reference-sequence-assembly.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:coding-hgvs.code	example	Pattern: LOINC Code 48004-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:coding-hgvs.value[x]	required	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:coding-hgvs.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:coding-hgvs.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:genomic-hgvs.code	example	Pattern: LOINC Code 81290-9 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:genomic-hgvs.value[x]	required	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:genomic-hgvs.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:genomic-hgvs.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:cytogenomic-nomenclature.code	example	Pattern: LOINC Code 81291-7 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:cytogenomic-nomenclature.value[x]	example
Observation.component:cytogenomic-nomenclature.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:cytogenomic-nomenclature.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:genomic-ref-seq.code	example	Pattern: LOINC Code 48013-7 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:genomic-ref-seq.value[x]	example
Observation.component:genomic-ref-seq.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:genomic-ref-seq.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component: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:transcript-ref-seq.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:exact-start-end.code	example	Pattern: LOINC Code 81254-5 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:exact-start-end.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:exact-start-end.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:inner-start-end.code	example	Pattern: LOINC Code 81302-2 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:inner-start-end.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:inner-start-end.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:outer-start-end.code	example	Pattern: LOINC Code 81301-4 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:outer-start-end.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:outer-start-end.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:coordinate-system.code	example	Pattern: LOINC Code 92822-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:coordinate-system.value[x]	extensible	LOINC LL5323-2 http://loinc.org/vs/LL5323-2
Observation.component:coordinate-system.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:coordinate-system.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:ref-allele.code	example	Pattern: LOINC Code 69547-8 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:ref-allele.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:ref-allele.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:alt-allele.code	example	Pattern: LOINC Code 69551-0 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:alt-allele.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:alt-allele.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:coding-change-type.code	example	Pattern: LOINC Code 48019-4 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:coding-change-type.value[x]	extensible	DNAChangeTypeVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/dna-change-type-vs
Observation.component:coding-change-type.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:coding-change-type.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:genomic-source-class.code	example	Pattern: LOINC Code 48002-0 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:genomic-source-class.value[x]	extensible	LOINC LL378-1 http://loinc.org/vs/LL378-1
Observation.component:genomic-source-class.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:genomic-source-class.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:sample-allelic-frequency.code	example	Pattern: LOINC Code 81258-6 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:sample-allelic-frequency.value[x].comparator	required	QuantityComparator http://hl7.org/fhir/ValueSet/quantity-comparator|4.0.1 from the FHIR Standard
Observation.component:sample-allelic-frequency.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:sample-allelic-frequency.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:allelic-read-depth.code	example	Pattern: LOINC Code 82121-5 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:allelic-read-depth.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:allelic-read-depth.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:allelic-state.code	example	Pattern: LOINC Code 53034-5 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:allelic-state.value[x]	extensible	LOINC LL381-5 http://loinc.org/vs/LL381-5
Observation.component:allelic-state.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:allelic-state.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:variant-inheritance.code	example	Pattern: variant-inheritance http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:variant-inheritance.value[x]	extensible	VariantInheritanceVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-inheritance-vs
Observation.component:variant-inheritance.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:variant-inheritance.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component: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:variation-code.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:chromosome-identifier.code	example	Pattern: LOINC Code 48000-4 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:chromosome-identifier.value[x]	required	LOINC LL2938-0 http://loinc.org/vs/LL2938-0
Observation.component:chromosome-identifier.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:chromosome-identifier.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:protein-hgvs.code	example	Pattern: LOINC Code 48005-3 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:protein-hgvs.value[x]	required	HGVSVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs-vs
Observation.component:protein-hgvs.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:protein-hgvs.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:amino-acid-change-type.code	example	Pattern: LOINC Code 48006-1 http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:amino-acid-change-type.value[x]	extensible	LOINC LL380-7 http://loinc.org/vs/LL380-7
Observation.component:amino-acid-change-type.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:amino-acid-change-type.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:molecular-consequence.code	example	Pattern: molecular-consequence http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:molecular-consequence.value[x]	extensible	MolecularConsequenceVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/molecular-consequence-vs
Observation.component:molecular-consequence.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:molecular-consequence.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation 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:copy-number.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard
Observation.component:variant-confidence-status.code	example	Pattern: variant-confidence-status http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard
Observation.component:variant-confidence-status.value[x]	required	VariantConfidenceStatusVS http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-confidence-status-vs
Observation.component:variant-confidence-status.dataAbsentReason	extensible	DataAbsentReason http://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard
Observation.component:variant-confidence-status.interpretation	extensible	ObservationInterpretationCodes http://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard

Constraints

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

This structure is derived from Variant

Summary