Genomics Reporting Implementation Guide
2.0.0 - trial-use

This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

Resource Profile: Variant

Defining URL:http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant
Version:2.0.0
Name:Variant
Status:Active as of 2022-05-09 04:53:07+0000
Definition:

Details about a set of changes in the tested sample compared to a reference sequence.

Publisher:HL7 Clinical Genomics Working Group
Copyright:

This material contains content from LOINC (http://loinc.org). LOINC is copyright © 1995-2020, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license. LOINC® is a registered United States trademark of Regenstrief Institute, Inc.

Source Resource:XML / JSON / Turtle

The official URL for this profile is: 

http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant

This profile allows a full description of the variant found using properties from a variety of testing approaches and allowing for a variety of descriptive mechanisms. Labs are encouraged to populate what properties they know. In future versions of this implementation guide, HL7 may provide additional guidance on what properties should be sent in which situations and may subdivide Variant into multiple sub-profiles with more specific purpose.

See Variant Reporting for details on use.

Formal Views of Profile Content

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

This structure is derived from GenomicFinding

Summary

Mandatory: 0 element (16 nested mandatory elements)

This structure is derived from GenomicFinding

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation 0..*GenomicFindingVariant
... code 1..1CodeableConcept69548-6
Required Pattern: At least the following
.... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
..... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
..... code1..1codeSymbol in syntax defined by the system
Fixed Value: 69548-6
... valueCodeableConcept 0..1CodeableConceptIndeterminate | No call | Present | Absent.
Binding: LOINC Answer List LL1971-2 (required)
... method 0..1CodeableConceptSequencing | SNP array | PCR | Computational analysis | ...
Binding: LOINC Answer List LL4048-6 (extensible)
... component:coding-hgvs 0..1BackboneElementCoding (cDNA) Change - cHGVS
.... code 1..1CodeableConcept48004-6
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48004-6
.... value[x] 1..1CodeableConceptA valid HGVS-formatted 'c.' string, e.g. NM_005228.5:c.2369C>T.
Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
... component:genomic-hgvs 0..1BackboneElementGenomic (gDNA) Change - gHGVS
.... code 1..1CodeableConcept81290-9
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81290-9
.... value[x] 1..1CodeableConceptA valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup
Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
... component:cytogenomic-nomenclature 0..1BackboneElementCytogenomic Nomenclature (ISCN)
.... code 1..1CodeableConcept81291-7
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81291-7
.... value[x] 1..1CodeableConceptActual component result
Binding: (unbound) (example): Binding not yet defined

... component:genomic-ref-seq 0..1BackboneElementGenomic Reference Sequence
.... code 1..1CodeableConcept48013-7
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48013-7
.... value[x] 1..1CodeableConceptVersioned genomic reference sequence identifier
Binding: (unbound) (example): Multiple bindings acceptable (NCBI or LRG)

... component:transcript-ref-seq 0..1BackboneElementReference Transcript
.... code 1..1CodeableConcept51958-7
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 51958-7
.... value[x] 1..1CodeableConceptVersioned transcript reference sequence identifier
Binding: (unbound) (example): Multiple bindings acceptable (NCBI or LRG)

... component:exact-start-end 0..1BackboneElementExact Start-End
.... code 1..1CodeableConcept81254-5
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81254-5
.... value[x] 0..1RangeRange in question. 'High' can be omitted for single nucleotide variants.
... component:inner-start-end 0..1BackboneElementInner Start-End
.... code 1..1CodeableConcept81302-2
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81302-2
.... value[x] 0..1RangeImprecise variant inner-bounding range
... component:outer-start-end 0..1BackboneElementOuter Start-End
.... code 1..1CodeableConcept81301-4
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81301-4
.... value[x] 0..1RangeImprecise variant outer-bounding range
... component:coordinate-system 0..1BackboneElementCoordinate System
.... code 1..1CodeableConcept92822-6
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 92822-6
.... value[x] 1..1CodeableConcept0-based interval counting | 0-based character counting | 1-based character counting
Binding: LOINC Answer List LL5323-2 (extensible)
... component:ref-allele 0..1BackboneElementGenomic Ref Allele
.... code 1..1CodeableConcept69547-8
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 69547-8
.... value[x] 0..1stringNormalized string per the VCF format.
... component:alt-allele 0..1BackboneElementGenomic Alt Allele
.... code 1..1CodeableConcept69551-0
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 69551-0
.... value[x] 0..1stringNormalized string per the VCF format.
... component:coding-change-type 0..1BackboneElementCoding DNA Change Type
.... code 1..1CodeableConcept48019-4
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48019-4
.... value[x] 1..1CodeableConceptdeletion | 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 0..1BackboneElementGenomic Source Class
.... code 1..1CodeableConcept48002-0
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48002-0
.... value[x] 1..1CodeableConceptGermline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo
Binding: LOINC Answer List LL378-1 (extensible)
... component:sample-allelic-frequency 0..1BackboneElementSample Allelic Frequency
.... code 1..1CodeableConcept81258-6
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81258-6
.... value[x] 0..1QuantityRelative frequency in the sample
..... system 0..1uriSystem that defines coded unit form
Required Pattern: http://unitsofmeasure.org
... component:allelic-read-depth 0..1BackboneElementAllelic Read Depth
.... code 1..1CodeableConcept82121-5
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 82121-5
.... value[x] 0..1QuantityUnfiltered count of supporting reads
... component:allelic-state 0..1BackboneElementAllelic State
.... code 1..1CodeableConcept53034-5
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 53034-5
.... value[x] 1..1CodeableConceptHeteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous
Binding: LOINC Answer List LL381-5 (extensible)
... component:variant-inheritance 0..1BackboneElementVariant Inheritance
.... code 1..1CodeableConceptvariant-inheritance
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: variant-inheritance
.... value[x] 1..1CodeableConceptMaternal | Paternal | Unknown
Binding: Variant Inheritances (extensible)
... component:variation-code 0..*BackboneElementVariation Code
.... code 1..1CodeableConcept81252-9
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81252-9
.... value[x] 1..1CodeableConceptClinVar ID or similar
Binding: (unbound) (example): Multiple bindings acceptable

... component:chromosome-identifier 0..*BackboneElementChromosome Identifier
.... code 1..1CodeableConcept48000-4
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48000-4
.... value[x] 1..1CodeableConceptChromosome 1 | Chromosome 2 | ... | Chromosome 22 | Chromosome X | Chromosome Y
Binding: LOINC Answer List LL2938-0 (required)
... component:protein-hgvs 0..1BackboneElementProtein (Amino Acid) Change - pHGVS
.... code 1..1CodeableConcept48005-3
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48005-3
.... value[x] 1..1CodeableConceptA 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 0..1BackboneElementAmino Acid Change Type
.... code 1..1CodeableConcept48006-1
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48006-1
.... value[x] 1..1CodeableConceptWild type | Deletion | Duplication | Frameshift | Initiating Methionine | Insertion | Insertion and Deletion | Missense | Nonsense | Silent
Binding: LOINC Answer List LL380-7 (extensible)
... component:molecular-consequence 0..1BackboneElementMolecular Consequence
.... code 1..1CodeableConceptmolecular-consequence
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: molecular-consequence
.... value[x] 1..1CodeableConceptstop_lost | stop_gained | inframe_insertion | frameshift_variant | ... (many)
Binding: Molecular Consequence (extensible): Concepts in sequence ontology under SO:0001537.

... component:copy-number 0..1BackboneElementGenomic Structural Variant Copy Number
.... code 1..1CodeableConcept82155-3
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 82155-3
.... value[x] I0..1QuantityActual 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.
... component:variant-confidence-status 0..1BackboneElementVariant Confidence Status
.... code 1..1CodeableConceptvariant-confidence-status
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: variant-confidence-status
.... value[x] 1..1CodeableConceptHigh | Intermediate | Low
Binding: Variant Confidence Status (required)

doco Documentation for this format
NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation I0..*GenomicFindingVariant
... id Σ0..1stringLogical id of this artifact
... meta Σ0..1MetaMetadata about the resource
... implicitRules ?!Σ0..1uriA set of rules under which this content was created
... language 0..1codeLanguage of the resource content
Binding: CommonLanguages (preferred): A human language.

Additional BindingsPurpose
AllLanguagesMax Binding
... text 0..1NarrativeText summary of the resource, for human interpretation
... contained 0..*ResourceContained, inline Resources
... Slices for extension 0..*ExtensionExtension
Slice: Unordered, Open by value:url
... observation-secondaryFinding 0..1CodeableConceptSecondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement. For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings
URL: http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding
Binding: ObservationCategoryCodes (extensible): Codes to denote a guideline or policy statement.when a genetic test result is being shared as a secondary finding.


... bodySite 0..1Reference(BodyStructure)Target anatomic location or structure
URL: http://hl7.org/fhir/StructureDefinition/bodySite
... modifierExtension ?!0..*ExtensionExtensions that cannot be ignored
... identifier Σ0..*IdentifierBusiness Identifier for observation
... basedOn Σ0..*Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest)Fulfills plan, proposal or order
... partOf Σ0..*Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy)Part of referenced event
... status ?!Σ1..1coderegistered | preliminary | final | amended +
Binding: ObservationStatus (required): Codes providing the status of an observation.

... Slices for category 1..*CodeableConceptClassification of type of observation
Slice: Unordered, Open by value:coding
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.


.... category:labCategory 1..1CodeableConceptClassification of type of observation
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.


..... id 0..1stringUnique id for inter-element referencing
..... Slices for extension 0..*ExtensionAdditional content defined by implementations
Slice: Unordered, Open by value:url
..... coding Σ1..*CodingCode defined by a terminology system

Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... system1..1uriIdentity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
...... version0..1stringVersion of the system - if relevant
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: laboratory
...... display0..1stringRepresentation defined by the system
...... userSelected0..1booleanIf this coding was chosen directly by the user
..... text Σ0..1stringPlain text representation of the concept
... code Σ1..1CodeableConcept69548-6
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
.... id0..1stringUnique id for inter-element referencing
.... extension0..*ExtensionAdditional content defined by implementations
.... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
..... id0..1stringUnique id for inter-element referencing
..... extension0..*ExtensionAdditional content defined by implementations
..... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
..... version0..1stringVersion of the system - if relevant
..... code1..1codeSymbol in syntax defined by the system
Fixed Value: 69548-6
..... display0..1stringRepresentation defined by the system
..... userSelected0..1booleanIf this coding was chosen directly by the user
.... text0..1stringPlain text representation of the concept
... subject Σ0..1Reference(Patient | Group | Device | Location)Who and/or what the observation is about
... focus Σ0..*Reference(Resource)What the observation is about, when it is not about the subject of record
... encounter Σ0..1Reference(Encounter)Healthcare event during which this observation is made
... effective[x] Σ0..1Clinically relevant time/time-period for observation
.... effectiveDateTimedateTime
.... effectivePeriodPeriod
.... effectiveTimingTiming
.... effectiveInstantinstant
... issued Σ0..1instantDate/Time this version was made available
... performer Σ0..*Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson)Who is responsible for the observation
... Slices for value[x] ΣI0..1CodeableConceptActual result
Slice: Unordered, Closed by type:$this
.... value[x]:valueCodeableConcept ΣI0..1CodeableConceptIndeterminate | No call | Present | Absent.
Binding: LOINC Answer List LL1971-2 (required)
... dataAbsentReason I0..1CodeableConceptWhy the result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

... interpretation 0..*CodeableConceptHigh, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.


... note 0..*CodedAnnotationComments about the Observation that also contain a coded type
... bodySite 0..1CodeableConceptObserved body part
Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.

... method 0..1CodeableConceptSequencing | SNP array | PCR | Computational analysis | ...
Binding: LOINC Answer List LL4048-6 (extensible)
... specimen 0..1Reference(Specimen)Specimen used for this observation
... device 0..1Reference(Device | DeviceMetric)(Measurement) Device
... referenceRange I0..*BackboneElementProvides guide for interpretation
.... id 0..1stringUnique id for inter-element referencing
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
.... low I0..1SimpleQuantityLow Range, if relevant
.... high I0..1SimpleQuantityHigh Range, if relevant
.... type 0..1CodeableConceptReference range qualifier
Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range.

.... appliesTo 0..*CodeableConceptReference range population
Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to.


.... age 0..1RangeApplicable age range, if relevant
.... text 0..1stringText based reference range in an observation
... hasMember Σ0..*Reference(Observation | QuestionnaireResponse | MolecularSequence)Related resource that belongs to the Observation group
... derivedFrom Σ0..*Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence)Related measurements the observation is made from
... Slices for component Σ0..*BackboneElementComponent results
Slice: Unordered, Open by pattern:code
.... component:All Slices Content/Rules for all slices
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.

..... value[x] Σ0..1Actual component result
...... valueQuantityQuantity
...... valueCodeableConceptCodeableConcept
...... valueStringstring
...... valueBooleanboolean
...... valueIntegerinteger
...... valueRangeRange
...... valueRatioRatio
...... valueSampledDataSampledData
...... valueTimetime
...... valueDateTimedateTime
...... valuePeriodPeriod
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementClinical Conclusion
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptconclusion-string
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: conclusion-string
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ0..1stringSummary conclusion (interpretation/impression)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..*BackboneElementGene Studied
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept48018-6
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48018-6
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptThe 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 I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..*BackboneElementCytogenetic (Chromosome) Location
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept48001-2
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48001-2
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptExample: 1q21.1
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..*BackboneElementHuman Reference Sequence Assembly
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept62374-4
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 62374-4
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptGRCh37 | GRCh38 | ...
Binding: LOINC Answer List LL1040-6 (extensible)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementCoding (cDNA) Change - cHGVS
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept48004-6
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48004-6
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptA valid HGVS-formatted 'c.' string, e.g. NM_005228.5:c.2369C>T.
Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementGenomic (gDNA) Change - gHGVS
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept81290-9
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81290-9
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptA valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup
Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementCytogenomic Nomenclature (ISCN)
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept81291-7
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81291-7
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptActual component result
Binding: (unbound) (example): Binding not yet defined

..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementGenomic Reference Sequence
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept48013-7
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48013-7
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptVersioned genomic reference sequence identifier
Binding: (unbound) (example): Multiple bindings acceptable (NCBI or LRG)

..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementReference Transcript
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept51958-7
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 51958-7
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptVersioned transcript reference sequence identifier
Binding: (unbound) (example): Multiple bindings acceptable (NCBI or LRG)

..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementExact Start-End
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept81254-5
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81254-5
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ0..1RangeRange in question. 'High' can be omitted for single nucleotide variants.
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementInner Start-End
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept81302-2
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81302-2
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ0..1RangeImprecise variant inner-bounding range
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementOuter Start-End
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept81301-4
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81301-4
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ0..1RangeImprecise variant outer-bounding range
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementCoordinate System
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept92822-6
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 92822-6
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConcept0-based interval counting | 0-based character counting | 1-based character counting
Binding: LOINC Answer List LL5323-2 (extensible)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementGenomic Ref Allele
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept69547-8
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 69547-8
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ0..1stringNormalized string per the VCF format.
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementGenomic Alt Allele
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept69551-0
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 69551-0
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ0..1stringNormalized string per the VCF format.
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementCoding DNA Change Type
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept48019-4
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48019-4
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptdeletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many)
Binding: DNA Change Type (extensible): Concepts in sequence ontology under SO:0002072

..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementGenomic Source Class
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept48002-0
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48002-0
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptGermline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo
Binding: LOINC Answer List LL378-1 (extensible)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementSample Allelic Frequency
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept81258-6
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81258-6
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ0..1QuantityRelative frequency in the sample
...... id 0..1stringUnique id for inter-element referencing
...... Slices for extension 0..*ExtensionAdditional content defined by implementations
Slice: Unordered, Open by value:url
...... value Σ0..1decimalNumerical value (with implicit precision)
...... comparator ?!Σ0..1code< | <= | >= | > - how to understand the value
Binding: QuantityComparator (required): How the Quantity should be understood and represented.

...... unit Σ0..1stringUnit representation
...... system ΣI0..1uriSystem that defines coded unit form
Required Pattern: http://unitsofmeasure.org
...... code Σ0..1codeCoded form of the unit
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementAllelic Read Depth
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept82121-5
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 82121-5
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ0..1QuantityUnfiltered count of supporting reads
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementAllelic State
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept53034-5
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 53034-5
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptHeteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous
Binding: LOINC Answer List LL381-5 (extensible)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementVariant Inheritance
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptvariant-inheritance
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: variant-inheritance
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptMaternal | Paternal | Unknown
Binding: Variant Inheritances (extensible)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..*BackboneElementVariation Code
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept81252-9
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81252-9
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptClinVar ID or similar
Binding: (unbound) (example): Multiple bindings acceptable

..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..*BackboneElementChromosome Identifier
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept48000-4
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48000-4
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptChromosome 1 | Chromosome 2 | ... | Chromosome 22 | Chromosome X | Chromosome Y
Binding: LOINC Answer List LL2938-0 (required)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementProtein (Amino Acid) Change - pHGVS
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept48005-3
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48005-3
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptA valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys)
Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementAmino Acid Change Type
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept48006-1
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48006-1
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptWild type | Deletion | Duplication | Frameshift | Initiating Methionine | Insertion | Insertion and Deletion | Missense | Nonsense | Silent
Binding: LOINC Answer List LL380-7 (extensible)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementMolecular Consequence
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptmolecular-consequence
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: molecular-consequence
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptstop_lost | stop_gained | inframe_insertion | frameshift_variant | ... (many)
Binding: Molecular Consequence (extensible): Concepts in sequence ontology under SO:0001537.

..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementGenomic Structural Variant Copy Number
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept82155-3
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 82155-3
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] ΣI0..1QuantityActual 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 I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementVariant Confidence Status
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptvariant-confidence-status
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: variant-confidence-status
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptHigh | Intermediate | Low
Binding: Variant Confidence Status (required)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result

doco Documentation for this format

This structure is derived from GenomicFinding

Summary

Mandatory: 0 element (16 nested mandatory elements)

Differential View

This structure is derived from GenomicFinding

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation 0..*GenomicFindingVariant
... code 1..1CodeableConcept69548-6
Required Pattern: At least the following
.... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
..... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
..... code1..1codeSymbol in syntax defined by the system
Fixed Value: 69548-6
... valueCodeableConcept 0..1CodeableConceptIndeterminate | No call | Present | Absent.
Binding: LOINC Answer List LL1971-2 (required)
... method 0..1CodeableConceptSequencing | SNP array | PCR | Computational analysis | ...
Binding: LOINC Answer List LL4048-6 (extensible)
... component:coding-hgvs 0..1BackboneElementCoding (cDNA) Change - cHGVS
.... code 1..1CodeableConcept48004-6
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48004-6
.... value[x] 1..1CodeableConceptA valid HGVS-formatted 'c.' string, e.g. NM_005228.5:c.2369C>T.
Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
... component:genomic-hgvs 0..1BackboneElementGenomic (gDNA) Change - gHGVS
.... code 1..1CodeableConcept81290-9
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81290-9
.... value[x] 1..1CodeableConceptA valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup
Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
... component:cytogenomic-nomenclature 0..1BackboneElementCytogenomic Nomenclature (ISCN)
.... code 1..1CodeableConcept81291-7
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81291-7
.... value[x] 1..1CodeableConceptActual component result
Binding: (unbound) (example): Binding not yet defined

... component:genomic-ref-seq 0..1BackboneElementGenomic Reference Sequence
.... code 1..1CodeableConcept48013-7
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48013-7
.... value[x] 1..1CodeableConceptVersioned genomic reference sequence identifier
Binding: (unbound) (example): Multiple bindings acceptable (NCBI or LRG)

... component:transcript-ref-seq 0..1BackboneElementReference Transcript
.... code 1..1CodeableConcept51958-7
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 51958-7
.... value[x] 1..1CodeableConceptVersioned transcript reference sequence identifier
Binding: (unbound) (example): Multiple bindings acceptable (NCBI or LRG)

... component:exact-start-end 0..1BackboneElementExact Start-End
.... code 1..1CodeableConcept81254-5
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81254-5
.... value[x] 0..1RangeRange in question. 'High' can be omitted for single nucleotide variants.
... component:inner-start-end 0..1BackboneElementInner Start-End
.... code 1..1CodeableConcept81302-2
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81302-2
.... value[x] 0..1RangeImprecise variant inner-bounding range
... component:outer-start-end 0..1BackboneElementOuter Start-End
.... code 1..1CodeableConcept81301-4
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81301-4
.... value[x] 0..1RangeImprecise variant outer-bounding range
... component:coordinate-system 0..1BackboneElementCoordinate System
.... code 1..1CodeableConcept92822-6
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 92822-6
.... value[x] 1..1CodeableConcept0-based interval counting | 0-based character counting | 1-based character counting
Binding: LOINC Answer List LL5323-2 (extensible)
... component:ref-allele 0..1BackboneElementGenomic Ref Allele
.... code 1..1CodeableConcept69547-8
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 69547-8
.... value[x] 0..1stringNormalized string per the VCF format.
... component:alt-allele 0..1BackboneElementGenomic Alt Allele
.... code 1..1CodeableConcept69551-0
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 69551-0
.... value[x] 0..1stringNormalized string per the VCF format.
... component:coding-change-type 0..1BackboneElementCoding DNA Change Type
.... code 1..1CodeableConcept48019-4
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48019-4
.... value[x] 1..1CodeableConceptdeletion | 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 0..1BackboneElementGenomic Source Class
.... code 1..1CodeableConcept48002-0
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48002-0
.... value[x] 1..1CodeableConceptGermline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo
Binding: LOINC Answer List LL378-1 (extensible)
... component:sample-allelic-frequency 0..1BackboneElementSample Allelic Frequency
.... code 1..1CodeableConcept81258-6
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81258-6
.... value[x] 0..1QuantityRelative frequency in the sample
..... system 0..1uriSystem that defines coded unit form
Required Pattern: http://unitsofmeasure.org
... component:allelic-read-depth 0..1BackboneElementAllelic Read Depth
.... code 1..1CodeableConcept82121-5
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 82121-5
.... value[x] 0..1QuantityUnfiltered count of supporting reads
... component:allelic-state 0..1BackboneElementAllelic State
.... code 1..1CodeableConcept53034-5
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 53034-5
.... value[x] 1..1CodeableConceptHeteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous
Binding: LOINC Answer List LL381-5 (extensible)
... component:variant-inheritance 0..1BackboneElementVariant Inheritance
.... code 1..1CodeableConceptvariant-inheritance
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: variant-inheritance
.... value[x] 1..1CodeableConceptMaternal | Paternal | Unknown
Binding: Variant Inheritances (extensible)
... component:variation-code 0..*BackboneElementVariation Code
.... code 1..1CodeableConcept81252-9
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81252-9
.... value[x] 1..1CodeableConceptClinVar ID or similar
Binding: (unbound) (example): Multiple bindings acceptable

... component:chromosome-identifier 0..*BackboneElementChromosome Identifier
.... code 1..1CodeableConcept48000-4
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48000-4
.... value[x] 1..1CodeableConceptChromosome 1 | Chromosome 2 | ... | Chromosome 22 | Chromosome X | Chromosome Y
Binding: LOINC Answer List LL2938-0 (required)
... component:protein-hgvs 0..1BackboneElementProtein (Amino Acid) Change - pHGVS
.... code 1..1CodeableConcept48005-3
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48005-3
.... value[x] 1..1CodeableConceptA 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 0..1BackboneElementAmino Acid Change Type
.... code 1..1CodeableConcept48006-1
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48006-1
.... value[x] 1..1CodeableConceptWild type | Deletion | Duplication | Frameshift | Initiating Methionine | Insertion | Insertion and Deletion | Missense | Nonsense | Silent
Binding: LOINC Answer List LL380-7 (extensible)
... component:molecular-consequence 0..1BackboneElementMolecular Consequence
.... code 1..1CodeableConceptmolecular-consequence
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: molecular-consequence
.... value[x] 1..1CodeableConceptstop_lost | stop_gained | inframe_insertion | frameshift_variant | ... (many)
Binding: Molecular Consequence (extensible): Concepts in sequence ontology under SO:0001537.

... component:copy-number 0..1BackboneElementGenomic Structural Variant Copy Number
.... code 1..1CodeableConcept82155-3
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 82155-3
.... value[x] I0..1QuantityActual 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.
... component:variant-confidence-status 0..1BackboneElementVariant Confidence Status
.... code 1..1CodeableConceptvariant-confidence-status
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: variant-confidence-status
.... value[x] 1..1CodeableConceptHigh | Intermediate | Low
Binding: Variant Confidence Status (required)

doco Documentation for this format

Snapshot View

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation I0..*GenomicFindingVariant
... id Σ0..1stringLogical id of this artifact
... meta Σ0..1MetaMetadata about the resource
... implicitRules ?!Σ0..1uriA set of rules under which this content was created
... language 0..1codeLanguage of the resource content
Binding: CommonLanguages (preferred): A human language.

Additional BindingsPurpose
AllLanguagesMax Binding
... text 0..1NarrativeText summary of the resource, for human interpretation
... contained 0..*ResourceContained, inline Resources
... Slices for extension 0..*ExtensionExtension
Slice: Unordered, Open by value:url
... observation-secondaryFinding 0..1CodeableConceptSecondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement. For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings
URL: http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding
Binding: ObservationCategoryCodes (extensible): Codes to denote a guideline or policy statement.when a genetic test result is being shared as a secondary finding.


... bodySite 0..1Reference(BodyStructure)Target anatomic location or structure
URL: http://hl7.org/fhir/StructureDefinition/bodySite
... modifierExtension ?!0..*ExtensionExtensions that cannot be ignored
... identifier Σ0..*IdentifierBusiness Identifier for observation
... basedOn Σ0..*Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest)Fulfills plan, proposal or order
... partOf Σ0..*Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy)Part of referenced event
... status ?!Σ1..1coderegistered | preliminary | final | amended +
Binding: ObservationStatus (required): Codes providing the status of an observation.

... Slices for category 1..*CodeableConceptClassification of type of observation
Slice: Unordered, Open by value:coding
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.


.... category:labCategory 1..1CodeableConceptClassification of type of observation
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.


..... id 0..1stringUnique id for inter-element referencing
..... Slices for extension 0..*ExtensionAdditional content defined by implementations
Slice: Unordered, Open by value:url
..... coding Σ1..*CodingCode defined by a terminology system

Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... system1..1uriIdentity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
...... version0..1stringVersion of the system - if relevant
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: laboratory
...... display0..1stringRepresentation defined by the system
...... userSelected0..1booleanIf this coding was chosen directly by the user
..... text Σ0..1stringPlain text representation of the concept
... code Σ1..1CodeableConcept69548-6
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
.... id0..1stringUnique id for inter-element referencing
.... extension0..*ExtensionAdditional content defined by implementations
.... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
..... id0..1stringUnique id for inter-element referencing
..... extension0..*ExtensionAdditional content defined by implementations
..... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
..... version0..1stringVersion of the system - if relevant
..... code1..1codeSymbol in syntax defined by the system
Fixed Value: 69548-6
..... display0..1stringRepresentation defined by the system
..... userSelected0..1booleanIf this coding was chosen directly by the user
.... text0..1stringPlain text representation of the concept
... subject Σ0..1Reference(Patient | Group | Device | Location)Who and/or what the observation is about
... focus Σ0..*Reference(Resource)What the observation is about, when it is not about the subject of record
... encounter Σ0..1Reference(Encounter)Healthcare event during which this observation is made
... effective[x] Σ0..1Clinically relevant time/time-period for observation
.... effectiveDateTimedateTime
.... effectivePeriodPeriod
.... effectiveTimingTiming
.... effectiveInstantinstant
... issued Σ0..1instantDate/Time this version was made available
... performer Σ0..*Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson)Who is responsible for the observation
... Slices for value[x] ΣI0..1CodeableConceptActual result
Slice: Unordered, Closed by type:$this
.... value[x]:valueCodeableConcept ΣI0..1CodeableConceptIndeterminate | No call | Present | Absent.
Binding: LOINC Answer List LL1971-2 (required)
... dataAbsentReason I0..1CodeableConceptWhy the result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

... interpretation 0..*CodeableConceptHigh, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.


... note 0..*CodedAnnotationComments about the Observation that also contain a coded type
... bodySite 0..1CodeableConceptObserved body part
Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.

... method 0..1CodeableConceptSequencing | SNP array | PCR | Computational analysis | ...
Binding: LOINC Answer List LL4048-6 (extensible)
... specimen 0..1Reference(Specimen)Specimen used for this observation
... device 0..1Reference(Device | DeviceMetric)(Measurement) Device
... referenceRange I0..*BackboneElementProvides guide for interpretation
.... id 0..1stringUnique id for inter-element referencing
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
.... low I0..1SimpleQuantityLow Range, if relevant
.... high I0..1SimpleQuantityHigh Range, if relevant
.... type 0..1CodeableConceptReference range qualifier
Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range.

.... appliesTo 0..*CodeableConceptReference range population
Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to.


.... age 0..1RangeApplicable age range, if relevant
.... text 0..1stringText based reference range in an observation
... hasMember Σ0..*Reference(Observation | QuestionnaireResponse | MolecularSequence)Related resource that belongs to the Observation group
... derivedFrom Σ0..*Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence)Related measurements the observation is made from
... Slices for component Σ0..*BackboneElementComponent results
Slice: Unordered, Open by pattern:code
.... component:All Slices Content/Rules for all slices
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.

..... value[x] Σ0..1Actual component result
...... valueQuantityQuantity
...... valueCodeableConceptCodeableConcept
...... valueStringstring
...... valueBooleanboolean
...... valueIntegerinteger
...... valueRangeRange
...... valueRatioRatio
...... valueSampledDataSampledData
...... valueTimetime
...... valueDateTimedateTime
...... valuePeriodPeriod
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementClinical Conclusion
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptconclusion-string
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: conclusion-string
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ0..1stringSummary conclusion (interpretation/impression)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..*BackboneElementGene Studied
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept48018-6
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48018-6
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptThe 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 I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..*BackboneElementCytogenetic (Chromosome) Location
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept48001-2
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48001-2
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptExample: 1q21.1
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..*BackboneElementHuman Reference Sequence Assembly
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept62374-4
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 62374-4
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptGRCh37 | GRCh38 | ...
Binding: LOINC Answer List LL1040-6 (extensible)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementCoding (cDNA) Change - cHGVS
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept48004-6
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48004-6
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptA valid HGVS-formatted 'c.' string, e.g. NM_005228.5:c.2369C>T.
Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementGenomic (gDNA) Change - gHGVS
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept81290-9
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81290-9
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptA valid HGVS-formatted 'g.' string, e.g. NC_000016.9:g.2124200_2138612dup
Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementCytogenomic Nomenclature (ISCN)
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept81291-7
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81291-7
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptActual component result
Binding: (unbound) (example): Binding not yet defined

..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementGenomic Reference Sequence
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept48013-7
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48013-7
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptVersioned genomic reference sequence identifier
Binding: (unbound) (example): Multiple bindings acceptable (NCBI or LRG)

..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementReference Transcript
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept51958-7
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 51958-7
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptVersioned transcript reference sequence identifier
Binding: (unbound) (example): Multiple bindings acceptable (NCBI or LRG)

..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementExact Start-End
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept81254-5
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81254-5
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ0..1RangeRange in question. 'High' can be omitted for single nucleotide variants.
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementInner Start-End
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept81302-2
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81302-2
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ0..1RangeImprecise variant inner-bounding range
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementOuter Start-End
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept81301-4
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81301-4
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ0..1RangeImprecise variant outer-bounding range
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementCoordinate System
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept92822-6
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 92822-6
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConcept0-based interval counting | 0-based character counting | 1-based character counting
Binding: LOINC Answer List LL5323-2 (extensible)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementGenomic Ref Allele
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept69547-8
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 69547-8
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ0..1stringNormalized string per the VCF format.
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementGenomic Alt Allele
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept69551-0
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 69551-0
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ0..1stringNormalized string per the VCF format.
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementCoding DNA Change Type
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept48019-4
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48019-4
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptdeletion | insertion | delins | SNV | copy_number_gain | copy_number_loss | ... (many)
Binding: DNA Change Type (extensible): Concepts in sequence ontology under SO:0002072

..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementGenomic Source Class
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept48002-0
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48002-0
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptGermline | Somatic | Fetal | Likely germline | Likely somatic | Likely fetal | Unknown genomic origin | De novo
Binding: LOINC Answer List LL378-1 (extensible)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementSample Allelic Frequency
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept81258-6
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81258-6
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ0..1QuantityRelative frequency in the sample
...... id 0..1stringUnique id for inter-element referencing
...... Slices for extension 0..*ExtensionAdditional content defined by implementations
Slice: Unordered, Open by value:url
...... value Σ0..1decimalNumerical value (with implicit precision)
...... comparator ?!Σ0..1code< | <= | >= | > - how to understand the value
Binding: QuantityComparator (required): How the Quantity should be understood and represented.

...... unit Σ0..1stringUnit representation
...... system ΣI0..1uriSystem that defines coded unit form
Required Pattern: http://unitsofmeasure.org
...... code Σ0..1codeCoded form of the unit
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementAllelic Read Depth
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept82121-5
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 82121-5
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ0..1QuantityUnfiltered count of supporting reads
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementAllelic State
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept53034-5
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 53034-5
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptHeteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous
Binding: LOINC Answer List LL381-5 (extensible)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementVariant Inheritance
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptvariant-inheritance
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: variant-inheritance
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptMaternal | Paternal | Unknown
Binding: Variant Inheritances (extensible)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..*BackboneElementVariation Code
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept81252-9
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81252-9
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptClinVar ID or similar
Binding: (unbound) (example): Multiple bindings acceptable

..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..*BackboneElementChromosome Identifier
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept48000-4
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48000-4
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptChromosome 1 | Chromosome 2 | ... | Chromosome 22 | Chromosome X | Chromosome Y
Binding: LOINC Answer List LL2938-0 (required)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementProtein (Amino Acid) Change - pHGVS
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept48005-3
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48005-3
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptA valid HGVS-formatted 'p.' string, e.g. NP_000050.2:p.(Asn1836Lys)
Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementAmino Acid Change Type
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept48006-1
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48006-1
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptWild type | Deletion | Duplication | Frameshift | Initiating Methionine | Insertion | Insertion and Deletion | Missense | Nonsense | Silent
Binding: LOINC Answer List LL380-7 (extensible)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementMolecular Consequence
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptmolecular-consequence
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: molecular-consequence
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptstop_lost | stop_gained | inframe_insertion | frameshift_variant | ... (many)
Binding: Molecular Consequence (extensible): Concepts in sequence ontology under SO:0001537.

..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementGenomic Structural Variant Copy Number
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConcept82155-3
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 82155-3
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] ΣI0..1QuantityActual 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 I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementVariant Confidence Status
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptvariant-confidence-status
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: variant-confidence-status
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptHigh | Intermediate | Low
Binding: Variant Confidence Status (required)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result

doco Documentation for this format

 

Other representations of profile: CSV, Excel, Schematron

Terminology Bindings

PathConformanceValueSet / Code
Observation.languagepreferredCommonLanguages
Max Binding: AllLanguages
Observation.statusrequiredObservationStatus
Observation.categorypreferredObservationCategoryCodes
Observation.category:labCategorypreferredObservationCategoryCodes
Observation.codeexamplePattern: LOINC code 69548-6
Observation.value[x]:valueCodeableConceptrequiredLOINC LL1971-2
Observation.dataAbsentReasonextensibleDataAbsentReason
Observation.interpretationextensibleObservationInterpretationCodes
Observation.bodySiteexampleSNOMEDCTBodyStructures
Observation.methodextensibleLOINC LL4048-6
Observation.referenceRange.typepreferredObservationReferenceRangeMeaningCodes
Observation.referenceRange.appliesToexampleObservationReferenceRangeAppliesToCodes
Observation.component.codeexampleLOINCCodes
Observation.component.dataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationextensibleObservationInterpretationCodes
Observation.component:conclusion-string.codeexamplePattern: conclusion-string
Observation.component:conclusion-string.dataAbsentReasonextensibleDataAbsentReason
Observation.component:conclusion-string.interpretationextensibleObservationInterpretationCodes
Observation.component:gene-studied.codeexamplePattern: LOINC code 48018-6
Observation.component:gene-studied.value[x]extensibleHGNCVS
Observation.component:gene-studied.dataAbsentReasonextensibleDataAbsentReason
Observation.component:gene-studied.interpretationextensibleObservationInterpretationCodes
Observation.component:cytogenetic-location.codeexamplePattern: LOINC code 48001-2
Observation.component:cytogenetic-location.dataAbsentReasonextensibleDataAbsentReason
Observation.component:cytogenetic-location.interpretationextensibleObservationInterpretationCodes
Observation.component:reference-sequence-assembly.codeexamplePattern: LOINC code 62374-4
Observation.component:reference-sequence-assembly.value[x]extensibleLOINC LL1040-6
Observation.component:reference-sequence-assembly.dataAbsentReasonextensibleDataAbsentReason
Observation.component:reference-sequence-assembly.interpretationextensibleObservationInterpretationCodes
Observation.component:coding-hgvs.codeexamplePattern: LOINC code 48004-6
Observation.component:coding-hgvs.value[x]requiredHGVSVS
Observation.component:coding-hgvs.dataAbsentReasonextensibleDataAbsentReason
Observation.component:coding-hgvs.interpretationextensibleObservationInterpretationCodes
Observation.component:genomic-hgvs.codeexamplePattern: LOINC code 81290-9
Observation.component:genomic-hgvs.value[x]requiredHGVSVS
Observation.component:genomic-hgvs.dataAbsentReasonextensibleDataAbsentReason
Observation.component:genomic-hgvs.interpretationextensibleObservationInterpretationCodes
Observation.component:cytogenomic-nomenclature.codeexamplePattern: LOINC code 81291-7
Observation.component:cytogenomic-nomenclature.value[x]example
Observation.component:cytogenomic-nomenclature.dataAbsentReasonextensibleDataAbsentReason
Observation.component:cytogenomic-nomenclature.interpretationextensibleObservationInterpretationCodes
Observation.component:genomic-ref-seq.codeexamplePattern: LOINC code 48013-7
Observation.component:genomic-ref-seq.value[x]example
Observation.component:genomic-ref-seq.dataAbsentReasonextensibleDataAbsentReason
Observation.component:genomic-ref-seq.interpretationextensibleObservationInterpretationCodes
Observation.component:transcript-ref-seq.codeexamplePattern: LOINC code 51958-7
Observation.component:transcript-ref-seq.value[x]example
Observation.component:transcript-ref-seq.dataAbsentReasonextensibleDataAbsentReason
Observation.component:transcript-ref-seq.interpretationextensibleObservationInterpretationCodes
Observation.component:exact-start-end.codeexamplePattern: LOINC code 81254-5
Observation.component:exact-start-end.dataAbsentReasonextensibleDataAbsentReason
Observation.component:exact-start-end.interpretationextensibleObservationInterpretationCodes
Observation.component:inner-start-end.codeexamplePattern: LOINC code 81302-2
Observation.component:inner-start-end.dataAbsentReasonextensibleDataAbsentReason
Observation.component:inner-start-end.interpretationextensibleObservationInterpretationCodes
Observation.component:outer-start-end.codeexamplePattern: LOINC code 81301-4
Observation.component:outer-start-end.dataAbsentReasonextensibleDataAbsentReason
Observation.component:outer-start-end.interpretationextensibleObservationInterpretationCodes
Observation.component:coordinate-system.codeexamplePattern: LOINC code 92822-6
Observation.component:coordinate-system.value[x]extensibleLOINC LL5323-2
Observation.component:coordinate-system.dataAbsentReasonextensibleDataAbsentReason
Observation.component:coordinate-system.interpretationextensibleObservationInterpretationCodes
Observation.component:ref-allele.codeexamplePattern: LOINC code 69547-8
Observation.component:ref-allele.dataAbsentReasonextensibleDataAbsentReason
Observation.component:ref-allele.interpretationextensibleObservationInterpretationCodes
Observation.component:alt-allele.codeexamplePattern: LOINC code 69551-0
Observation.component:alt-allele.dataAbsentReasonextensibleDataAbsentReason
Observation.component:alt-allele.interpretationextensibleObservationInterpretationCodes
Observation.component:coding-change-type.codeexamplePattern: LOINC code 48019-4
Observation.component:coding-change-type.value[x]extensibleDNAChangeTypeVS
Observation.component:coding-change-type.dataAbsentReasonextensibleDataAbsentReason
Observation.component:coding-change-type.interpretationextensibleObservationInterpretationCodes
Observation.component:genomic-source-class.codeexamplePattern: LOINC code 48002-0
Observation.component:genomic-source-class.value[x]extensibleLOINC LL378-1
Observation.component:genomic-source-class.dataAbsentReasonextensibleDataAbsentReason
Observation.component:genomic-source-class.interpretationextensibleObservationInterpretationCodes
Observation.component:sample-allelic-frequency.codeexamplePattern: LOINC code 81258-6
Observation.component:sample-allelic-frequency.value[x].comparatorrequiredQuantityComparator
Observation.component:sample-allelic-frequency.dataAbsentReasonextensibleDataAbsentReason
Observation.component:sample-allelic-frequency.interpretationextensibleObservationInterpretationCodes
Observation.component:allelic-read-depth.codeexamplePattern: LOINC code 82121-5
Observation.component:allelic-read-depth.dataAbsentReasonextensibleDataAbsentReason
Observation.component:allelic-read-depth.interpretationextensibleObservationInterpretationCodes
Observation.component:allelic-state.codeexamplePattern: LOINC code 53034-5
Observation.component:allelic-state.value[x]extensibleLOINC LL381-5
Observation.component:allelic-state.dataAbsentReasonextensibleDataAbsentReason
Observation.component:allelic-state.interpretationextensibleObservationInterpretationCodes
Observation.component:variant-inheritance.codeexamplePattern: variant-inheritance
Observation.component:variant-inheritance.value[x]extensibleVariantInheritanceVS
Observation.component:variant-inheritance.dataAbsentReasonextensibleDataAbsentReason
Observation.component:variant-inheritance.interpretationextensibleObservationInterpretationCodes
Observation.component:variation-code.codeexamplePattern: LOINC code 81252-9
Observation.component:variation-code.value[x]example
Observation.component:variation-code.dataAbsentReasonextensibleDataAbsentReason
Observation.component:variation-code.interpretationextensibleObservationInterpretationCodes
Observation.component:chromosome-identifier.codeexamplePattern: LOINC code 48000-4
Observation.component:chromosome-identifier.value[x]requiredLOINC LL2938-0
Observation.component:chromosome-identifier.dataAbsentReasonextensibleDataAbsentReason
Observation.component:chromosome-identifier.interpretationextensibleObservationInterpretationCodes
Observation.component:protein-hgvs.codeexamplePattern: LOINC code 48005-3
Observation.component:protein-hgvs.value[x]requiredHGVSVS
Observation.component:protein-hgvs.dataAbsentReasonextensibleDataAbsentReason
Observation.component:protein-hgvs.interpretationextensibleObservationInterpretationCodes
Observation.component:amino-acid-change-type.codeexamplePattern: LOINC code 48006-1
Observation.component:amino-acid-change-type.value[x]extensibleLOINC LL380-7
Observation.component:amino-acid-change-type.dataAbsentReasonextensibleDataAbsentReason
Observation.component:amino-acid-change-type.interpretationextensibleObservationInterpretationCodes
Observation.component:molecular-consequence.codeexamplePattern: molecular-consequence
Observation.component:molecular-consequence.value[x]extensibleMolecularConsequenceVS
Observation.component:molecular-consequence.dataAbsentReasonextensibleDataAbsentReason
Observation.component:molecular-consequence.interpretationextensibleObservationInterpretationCodes
Observation.component:copy-number.codeexamplePattern: LOINC code 82155-3
Observation.component:copy-number.dataAbsentReasonextensibleDataAbsentReason
Observation.component:copy-number.interpretationextensibleObservationInterpretationCodes
Observation.component:variant-confidence-status.codeexamplePattern: variant-confidence-status
Observation.component:variant-confidence-status.value[x]requiredVariantConfidenceStatusVS
Observation.component:variant-confidence-status.dataAbsentReasonextensibleDataAbsentReason
Observation.component:variant-confidence-status.interpretationextensibleObservationInterpretationCodes

Constraints

IdGradePathDetailsRequirements
dom-2errorObservationIf the resource is contained in another resource, it SHALL NOT contain nested Resources
: contained.contained.empty()
dom-3errorObservationIf 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-4errorObservationIf 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-5errorObservationIf a resource is contained in another resource, it SHALL NOT have a security label
: contained.meta.security.empty()
dom-6Best PracticeObservationA resource should have narrative for robust management
: text.`div`.exists()
obs-6errorObservationdataAbsentReason SHALL only be present if Observation.value[x] is not present
: dataAbsentReason.empty() or value.empty()
obs-7errorObservationIf 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()
ele-1errorObservation.metaAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.implicitRulesAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.languageAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.textAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.extension:secondary-findingAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.extension:secondary-findingMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.extension:body-structureAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.extension:body-structureMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.identifierAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.basedOnAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.partOfAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.statusAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.categoryAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.category:labCategoryAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.category:labCategory.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.category:labCategory.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.category:labCategory.codingAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.category:labCategory.textAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.subjectAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.focusAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.encounterAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.effective[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.issuedAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.performerAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.value[x]:valueCodeableConceptAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.noteAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.bodySiteAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.methodAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.specimenAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.deviceAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
obs-3errorObservation.referenceRangeMust have at least a low or a high or text
: low.exists() or high.exists() or text.exists()
ele-1errorObservation.referenceRange.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.referenceRange.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.referenceRange.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.referenceRange.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.referenceRange.lowAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.referenceRange.highAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.referenceRange.typeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.referenceRange.appliesToAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.referenceRange.ageAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.referenceRange.textAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.hasMemberAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.derivedFromAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.componentAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:conclusion-stringAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:conclusion-string.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:conclusion-string.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:conclusion-string.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:conclusion-string.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:conclusion-string.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:conclusion-string.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:conclusion-string.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:conclusion-string.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:conclusion-string.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:gene-studiedAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:gene-studied.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:gene-studied.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:gene-studied.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:gene-studied.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:gene-studied.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:gene-studied.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:gene-studied.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:gene-studied.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:gene-studied.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:cytogenetic-locationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:cytogenetic-location.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:cytogenetic-location.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:cytogenetic-location.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:cytogenetic-location.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:cytogenetic-location.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:cytogenetic-location.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:cytogenetic-location.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:cytogenetic-location.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:cytogenetic-location.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:reference-sequence-assemblyAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:reference-sequence-assembly.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:reference-sequence-assembly.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:reference-sequence-assembly.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:reference-sequence-assembly.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:reference-sequence-assembly.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:reference-sequence-assembly.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:reference-sequence-assembly.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:reference-sequence-assembly.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:reference-sequence-assembly.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:coding-hgvsAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:coding-hgvs.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:coding-hgvs.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:coding-hgvs.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:coding-hgvs.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:coding-hgvs.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:coding-hgvs.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:coding-hgvs.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:coding-hgvs.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:coding-hgvs.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:genomic-hgvsAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:genomic-hgvs.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:genomic-hgvs.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:genomic-hgvs.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:genomic-hgvs.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:genomic-hgvs.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:genomic-hgvs.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:genomic-hgvs.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:genomic-hgvs.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:genomic-hgvs.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:cytogenomic-nomenclatureAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:cytogenomic-nomenclature.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:cytogenomic-nomenclature.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:cytogenomic-nomenclature.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:cytogenomic-nomenclature.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:cytogenomic-nomenclature.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:cytogenomic-nomenclature.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:cytogenomic-nomenclature.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:cytogenomic-nomenclature.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:cytogenomic-nomenclature.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:genomic-ref-seqAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:genomic-ref-seq.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:genomic-ref-seq.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:genomic-ref-seq.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:genomic-ref-seq.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:genomic-ref-seq.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:genomic-ref-seq.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:genomic-ref-seq.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:genomic-ref-seq.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:genomic-ref-seq.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:transcript-ref-seqAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:transcript-ref-seq.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:transcript-ref-seq.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:transcript-ref-seq.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:transcript-ref-seq.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:transcript-ref-seq.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:transcript-ref-seq.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:transcript-ref-seq.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:transcript-ref-seq.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:transcript-ref-seq.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:exact-start-endAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:exact-start-end.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:exact-start-end.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:exact-start-end.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:exact-start-end.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:exact-start-end.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:exact-start-end.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:exact-start-end.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:exact-start-end.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:exact-start-end.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:inner-start-endAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:inner-start-end.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:inner-start-end.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:inner-start-end.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:inner-start-end.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:inner-start-end.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:inner-start-end.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:inner-start-end.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:inner-start-end.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:inner-start-end.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:outer-start-endAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:outer-start-end.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:outer-start-end.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:outer-start-end.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:outer-start-end.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:outer-start-end.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:outer-start-end.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:outer-start-end.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:outer-start-end.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:outer-start-end.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:coordinate-systemAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:coordinate-system.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:coordinate-system.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:coordinate-system.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:coordinate-system.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:coordinate-system.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:coordinate-system.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:coordinate-system.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:coordinate-system.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:coordinate-system.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:ref-alleleAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:ref-allele.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:ref-allele.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:ref-allele.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:ref-allele.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:ref-allele.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:ref-allele.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:ref-allele.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:ref-allele.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:ref-allele.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:alt-alleleAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:alt-allele.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:alt-allele.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:alt-allele.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:alt-allele.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:alt-allele.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:alt-allele.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:alt-allele.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:alt-allele.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:alt-allele.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:coding-change-typeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:coding-change-type.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:coding-change-type.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:coding-change-type.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:coding-change-type.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:coding-change-type.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:coding-change-type.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:coding-change-type.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:coding-change-type.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:coding-change-type.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:genomic-source-classAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:genomic-source-class.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:genomic-source-class.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:genomic-source-class.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:genomic-source-class.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:genomic-source-class.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:genomic-source-class.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:genomic-source-class.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:genomic-source-class.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:genomic-source-class.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:sample-allelic-frequencyAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:sample-allelic-frequency.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:sample-allelic-frequency.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:sample-allelic-frequency.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:sample-allelic-frequency.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:sample-allelic-frequency.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:sample-allelic-frequency.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:sample-allelic-frequency.value[x].extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:sample-allelic-frequency.value[x].extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:sample-allelic-frequency.value[x].valueAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:sample-allelic-frequency.value[x].comparatorAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:sample-allelic-frequency.value[x].unitAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:sample-allelic-frequency.value[x].systemAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:sample-allelic-frequency.value[x].codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:sample-allelic-frequency.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:sample-allelic-frequency.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:sample-allelic-frequency.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:allelic-read-depthAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:allelic-read-depth.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:allelic-read-depth.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:allelic-read-depth.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:allelic-read-depth.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:allelic-read-depth.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:allelic-read-depth.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:allelic-read-depth.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:allelic-read-depth.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:allelic-read-depth.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:allelic-stateAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:allelic-state.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:allelic-state.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:allelic-state.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:allelic-state.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:allelic-state.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:allelic-state.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:allelic-state.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:allelic-state.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:allelic-state.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:variant-inheritanceAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:variant-inheritance.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:variant-inheritance.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:variant-inheritance.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:variant-inheritance.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:variant-inheritance.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:variant-inheritance.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:variant-inheritance.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:variant-inheritance.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:variant-inheritance.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:variation-codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:variation-code.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:variation-code.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:variation-code.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:variation-code.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:variation-code.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:variation-code.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:variation-code.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:variation-code.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:variation-code.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:chromosome-identifierAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:chromosome-identifier.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:chromosome-identifier.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:chromosome-identifier.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:chromosome-identifier.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:chromosome-identifier.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:chromosome-identifier.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:chromosome-identifier.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:chromosome-identifier.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:chromosome-identifier.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:protein-hgvsAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:protein-hgvs.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:protein-hgvs.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:protein-hgvs.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:protein-hgvs.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:protein-hgvs.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:protein-hgvs.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:protein-hgvs.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:protein-hgvs.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:protein-hgvs.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:amino-acid-change-typeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:amino-acid-change-type.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:amino-acid-change-type.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:amino-acid-change-type.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:amino-acid-change-type.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:amino-acid-change-type.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:amino-acid-change-type.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:amino-acid-change-type.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:amino-acid-change-type.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:amino-acid-change-type.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:molecular-consequenceAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:molecular-consequence.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:molecular-consequence.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:molecular-consequence.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:molecular-consequence.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:molecular-consequence.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:molecular-consequence.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:molecular-consequence.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:molecular-consequence.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:molecular-consequence.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:copy-numberAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:copy-number.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:copy-number.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:copy-number.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:copy-number.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:copy-number.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:copy-number.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
cnt-3errorObservation.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())
ele-1errorObservation.component:copy-number.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:copy-number.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:copy-number.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:variant-confidence-statusAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:variant-confidence-status.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:variant-confidence-status.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:variant-confidence-status.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1errorObservation.component:variant-confidence-status.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1errorObservation.component:variant-confidence-status.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:variant-confidence-status.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:variant-confidence-status.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:variant-confidence-status.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1errorObservation.component:variant-confidence-status.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())