minimal Common Oncology Data Elements (mCODE) Implementation Guide
2.1.0 - STU 2.1 United States of America flag

This page is part of the HL7 FHIR Implementation Guide: minimal Common Oncology Data Elements (mCODE) Release 1 - US Realm | STU1 (v2.1.0: 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: Genomic Variant Profile

Official URL: http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant Version: 2.1.0
Active as of 2023-03-21 Computable Name: GenomicVariant

An alteration in the most common DNA nucleotide sequence. The term variant can be used to describe an alteration that may be benign, pathogenic, or of unknown significance. The term variant is increasingly being used in place of the term mutation. Variants can be computed relative to reference sequence assembly from which it was identified.

Usage

GenomicVariant SHOULD be sent as part of a GenomicsReport and MAY be sent as a standalone observation.

Conformance

Observation resources associated with an in-scope patient with Observation.code LOINC 69548-6 MUST conform to this profile. Beyond this requirement, a producer of resources SHOULD ensure that any resource instance associated with an in-scope patient that would reasonably be expected to conform to this profile SHOULD be published in this form.

Usage:

Formal Views of Profile Content

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

This structure is derived from USCoreLaboratoryResultObservationProfile

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation 0..*USCoreLaboratoryResultObservationProfileMeasurements and simple assertions
... code 1..1CodeableConceptLaboratory Test Name
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
... value[x] 0..1CodeableConceptWhether the variant is present
Binding: LOINC Answer List LL1971-2 (required)
... bodySite 0..1CodeableConceptNot used in this profile
... specimen S0..1Reference(Genomic Specimen Profile)Specimen used for this observation
... referenceRange 0..*BackboneElementNot used in this profile
... hasMember 0..*Reference(Observation | QuestionnaireResponse | MolecularSequence)Not used in this profile
... Slices for component S0..*BackboneElementComponent results
Slice: Unordered, Open by pattern:code
.... component:All Slices Content/Rules for all slices
..... code S1..1CodeableConceptType of component observation (code / type)
..... value[x] S0..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
.... component:geneStudied S0..*BackboneElementGene studied [ID]
..... code S1..1CodeableConceptType of component observation (code / type)
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: 48018-6
..... value[x] S0..1CodeableConceptActual component result
Binding: HUGO Gene Nomenclature Committee Gene Names Value Set (extensible)
.... component:variationCode S0..1BackboneElementDiscrete Genomic variant
..... code S1..1CodeableConceptType of component observation (code / type)
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] S0..1CodeableConceptActual component result
Binding: ClinVar Value Set (preferred)
.... component:genomicDNAChange S0..1BackboneElementGenomic DNA change (gHGVS)
..... code S1..1CodeableConceptType of component observation (code / type)
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] S0..1CodeableConceptActual component result
Binding: Human Genome Variation Society Sequence Variant Nomenclature Value Set (required)
.... component:genomicDNAChangeType S0..1BackboneElementDNA Change Type
..... code S1..1CodeableConceptType of component observation (code / type)
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] S0..1CodeableConceptActual component result
Binding: DNA Change Type Value Set (extensible)
.... component:molecularConsequence S0..1BackboneElementMolecular consequence
..... code S1..1CodeableConceptType of component observation (code / type)
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/us/mcode/CodeSystem/loinc-requested-cs
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: molecular-consequence
..... value[x] S0..1CodeableConceptActual component result
Binding: Genomic Molecular Consequence Value Set (extensible)
.... component:genomicSourceClass S0..1BackboneElementGenomic source class [Type]
..... code S1..1CodeableConceptType of component observation (code / type)
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] S0..1CodeableConceptActual component result
Binding: LOINC Answer List LL378-1 (required)
.... component:aminoAcidChange S0..1BackboneElementAmino acid change (pHGVS)
..... code S1..1CodeableConceptType of component observation (code / type)
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] S0..1CodeableConceptActual component result
Binding: Human Genome Variation Society Sequence Variant Nomenclature Value Set (required)
.... component:aminoAcidChangeType S0..1BackboneElementAmino acid change [Type]
..... code S1..1CodeableConceptType of component observation (code / type)
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] S0..1CodeableConceptActual component result
Binding: LOINC Answer List LL380-7 (required)
.... component:copyNumber S0..1BackboneElementGenomic structural variant copy number
..... code S1..1CodeableConceptType of component observation (code / type)
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] S0..1QuantityActual component result
.... component:sampleAllelicFrequency S0..1BackboneElementsample allelic frequency
..... code S1..1CodeableConceptType of component observation (code / type)
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] S0..1QuantityActual component result
.... component:allelicState S0..1BackboneElementsample allelic frequency
..... code S1..1CodeableConceptType of component observation (code / type)
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] S0..1CodeableConceptActual component result
Binding: LOINC Answer List LL381-5 (required)
.... component:cytogeneticLocation S0..*BackboneElementCytogenetic (chromosome) location
..... code S1..1CodeableConceptType of component observation (code / type)
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: 48001-2
..... value[x] S0..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
.... component:cytogeneticNomenclature S0..*BackboneElementVariant ISCN
..... code S1..1CodeableConceptType of component observation (code / type)
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] S0..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
.... component:clinicalSignificance S0..1BackboneElementGenomic variation clinical significance [Imp]
..... code S1..1CodeableConceptType of component observation (code / type)
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: 53037-8
..... value[x] S0..1CodeableConceptActual component result
Binding: LOINC Answer List LL4034-6 (required)

doco Documentation for this format

Terminology Bindings (Differential)

PathConformanceValueSet
Observation.value[x]requiredLOINC LL1971-2
Observation.methodextensibleLOINC LL4048-6
Observation.component:geneStudied.value[x]extensibleHGNCVS
Observation.component:variationCode.value[x]preferredClinVarVS
Observation.component:genomicDNAChange.value[x]requiredHGVSVS
Observation.component:genomicDNAChangeType.value[x]extensibleDNAChangeTypeVS
Observation.component:molecularConsequence.value[x]extensibleGenomicMolecularConsequenceVS
Observation.component:genomicSourceClass.value[x]requiredLOINC LL378-1
Observation.component:aminoAcidChange.value[x]requiredHGVSVS
Observation.component:aminoAcidChangeType.value[x]requiredLOINC LL380-7
Observation.component:allelicState.value[x]requiredLOINC LL381-5
Observation.component:clinicalSignificance.value[x]requiredLOINC LL4034-6
NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation C0..*USCoreLaboratoryResultObservationProfileMeasurements and simple assertions
... implicitRules ?!Σ0..1uriA set of rules under which this content was created
... modifierExtension ?!0..*ExtensionExtensions that cannot be ignored
... status ?!SΣ1..1coderegistered | preliminary | final | amended +
Binding: ObservationStatus (required)
.... category:Laboratory S1..1CodeableConceptClassification of type of observation
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.



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://terminology.hl7.org/CodeSystem/observation-category
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: laboratory
... code SΣ1..1CodeableConceptLaboratory Test Name
Binding: LOINCCodes (extensible): LOINC codes


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
... subject SΣ1..1Reference(US Core Patient Profile)Who and/or what the observation is about
... effective[x] SΣC0..1Clinically relevant time/time-period for observation
.... effectiveDateTimedateTime
... value[x] SΣC0..1CodeableConceptWhether the variant is present
Binding: LOINC Answer List LL1971-2 (required)
... dataAbsentReason SC0..1CodeableConceptWhy the result is missing
Binding: DataAbsentReason (extensible)
... bodySite 0..1CodeableConceptNot used in this profile
Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.

... method S0..1CodeableConceptHow it was done
Binding: LOINC Answer List LL4048-6 (extensible)
... specimen S0..1Reference(Genomic Specimen Profile)Specimen used for this observation
... referenceRange C0..*BackboneElementNot used in this profile
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
... hasMember Σ0..*Reference(Observation | QuestionnaireResponse | MolecularSequence)Not used in this profile
... Slices for component SΣ0..*BackboneElementComponent results
Slice: Unordered, Open by pattern:code
.... component:All Slices Content/Rules for all slices
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.

..... value[x] SΣ0..1Actual component result
...... valueQuantityQuantity
...... valueCodeableConceptCodeableConcept
...... valueStringstring
...... valueBooleanboolean
...... valueIntegerinteger
...... valueRangeRange
...... valueRatioRatio
...... valueSampledDataSampledData
...... valueTimetime
...... valueDateTimedateTime
...... valuePeriodPeriod
.... component:geneStudied SΣ0..*BackboneElementGene studied [ID]
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


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: 48018-6
..... value[x] SΣ0..1CodeableConceptActual component result
Binding: HUGO Gene Nomenclature Committee Gene Names Value Set (extensible)
.... component:variationCode SΣ0..1BackboneElementDiscrete Genomic variant
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


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] SΣ0..1CodeableConceptActual component result
Binding: ClinVar Value Set (preferred)
.... component:genomicDNAChange SΣ0..1BackboneElementGenomic DNA change (gHGVS)
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


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] SΣ0..1CodeableConceptActual component result
Binding: Human Genome Variation Society Sequence Variant Nomenclature Value Set (required)
.... component:genomicDNAChangeType SΣ0..1BackboneElementDNA Change Type
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


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] SΣ0..1CodeableConceptActual component result
Binding: DNA Change Type Value Set (extensible)
.... component:molecularConsequence SΣ0..1BackboneElementMolecular consequence
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


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/us/mcode/CodeSystem/loinc-requested-cs
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: molecular-consequence
..... value[x] SΣ0..1CodeableConceptActual component result
Binding: Genomic Molecular Consequence Value Set (extensible)
.... component:genomicSourceClass SΣ0..1BackboneElementGenomic source class [Type]
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


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] SΣ0..1CodeableConceptActual component result
Binding: LOINC Answer List LL378-1 (required)
.... component:aminoAcidChange SΣ0..1BackboneElementAmino acid change (pHGVS)
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


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] SΣ0..1CodeableConceptActual component result
Binding: Human Genome Variation Society Sequence Variant Nomenclature Value Set (required)
.... component:aminoAcidChangeType SΣ0..1BackboneElementAmino acid change [Type]
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


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] SΣ0..1CodeableConceptActual component result
Binding: LOINC Answer List LL380-7 (required)
.... component:copyNumber SΣ0..1BackboneElementGenomic structural variant copy number
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


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] SΣ0..1QuantityActual component result
.... component:sampleAllelicFrequency SΣ0..1BackboneElementsample allelic frequency
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


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] SΣ0..1QuantityActual component result
.... component:allelicState SΣ0..1BackboneElementsample allelic frequency
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


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] SΣ0..1CodeableConceptActual component result
Binding: LOINC Answer List LL381-5 (required)
.... component:cytogeneticLocation SΣ0..*BackboneElementCytogenetic (chromosome) location
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


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: 48001-2
..... value[x] SΣ0..1Actual component result
...... valueQuantityQuantity
...... valueCodeableConceptCodeableConcept
...... valueStringstring
...... valueBooleanboolean
...... valueIntegerinteger
...... valueRangeRange
...... valueRatioRatio
...... valueSampledDataSampledData
...... valueTimetime
...... valueDateTimedateTime
...... valuePeriodPeriod
.... component:cytogeneticNomenclature SΣ0..*BackboneElementVariant ISCN
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


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] SΣ0..1Actual component result
...... valueQuantityQuantity
...... valueCodeableConceptCodeableConcept
...... valueStringstring
...... valueBooleanboolean
...... valueIntegerinteger
...... valueRangeRange
...... valueRatioRatio
...... valueSampledDataSampledData
...... valueTimetime
...... valueDateTimedateTime
...... valuePeriodPeriod
.... component:clinicalSignificance SΣ0..1BackboneElementGenomic variation clinical significance [Imp]
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


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: 53037-8
..... value[x] SΣ0..1CodeableConceptActual component result
Binding: LOINC Answer List LL4034-6 (required)

doco Documentation for this format

Terminology Bindings

PathConformanceValueSet / Code
Observation.statusrequiredObservationStatus
Observation.categorypreferredObservationCategoryCodes
Observation.category:LaboratorypreferredPattern: laboratory
Observation.codeextensiblePattern: LOINC code 69548-6
Observation.value[x]requiredLOINC LL1971-2
Observation.dataAbsentReasonextensibleDataAbsentReason
Observation.bodySiteexampleSNOMEDCTBodyStructures
Observation.methodextensibleLOINC LL4048-6
Observation.component.codeexampleLOINCCodes (a valid code from LOINC)
Observation.component:geneStudied.codeexamplePattern: LOINC code 48018-6
Observation.component:geneStudied.value[x]extensibleHGNCVS
Observation.component:variationCode.codeexamplePattern: LOINC code 81252-9
Observation.component:variationCode.value[x]preferredClinVarVS
Observation.component:genomicDNAChange.codeexamplePattern: LOINC code 81290-9
Observation.component:genomicDNAChange.value[x]requiredHGVSVS
Observation.component:genomicDNAChangeType.codeexamplePattern: LOINC code 48019-4
Observation.component:genomicDNAChangeType.value[x]extensibleDNAChangeTypeVS
Observation.component:molecularConsequence.codeexamplePattern: molecular-consequence
Observation.component:molecularConsequence.value[x]extensibleGenomicMolecularConsequenceVS
Observation.component:genomicSourceClass.codeexamplePattern: LOINC code 48002-0
Observation.component:genomicSourceClass.value[x]requiredLOINC LL378-1
Observation.component:aminoAcidChange.codeexamplePattern: LOINC code 48005-3
Observation.component:aminoAcidChange.value[x]requiredHGVSVS
Observation.component:aminoAcidChangeType.codeexamplePattern: LOINC code 48006-1
Observation.component:aminoAcidChangeType.value[x]requiredLOINC LL380-7
Observation.component:copyNumber.codeexamplePattern: LOINC code 82155-3
Observation.component:sampleAllelicFrequency.codeexamplePattern: LOINC code 81258-6
Observation.component:allelicState.codeexamplePattern: LOINC code 53034-5
Observation.component:allelicState.value[x]requiredLOINC LL381-5
Observation.component:cytogeneticLocation.codeexamplePattern: LOINC code 48001-2
Observation.component:cytogeneticNomenclature.codeexamplePattern: LOINC code 81291-7
Observation.component:clinicalSignificance.codeexamplePattern: LOINC code 53037-8
Observation.component:clinicalSignificance.value[x]requiredLOINC LL4034-6
NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation C0..*USCoreLaboratoryResultObservationProfileMeasurements and simple assertions
... id Σ0..1idLogical 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
... extension 0..*ExtensionAdditional content defined by implementations
... 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 ?!SΣ1..1coderegistered | preliminary | final | amended +
Binding: ObservationStatus (required)
... Slices for category S1..*CodeableConceptClassification of type of observation
Slice: Unordered, Open by pattern:$this
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.


.... category:Laboratory S1..1CodeableConceptClassification of type of observation
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.



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://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
..... text0..1stringPlain text representation of the concept
... code SΣ1..1CodeableConceptLaboratory Test Name
Binding: LOINCCodes (extensible): LOINC codes


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 SΣ1..1Reference(US Core Patient Profile)Who and/or what the observation is about
... focus ΣTU0..*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] SΣC0..1Clinically relevant time/time-period for observation
.... effectiveDateTimedateTime S
.... 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
... value[x] SΣC0..1CodeableConcept SWhether the variant is present
Binding: LOINC Answer List LL1971-2 (required)
... dataAbsentReason SC0..1CodeableConceptWhy the result is missing
Binding: DataAbsentReason (extensible)
... interpretation 0..*CodeableConceptHigh, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.


... note 0..*AnnotationComments about the observation
... bodySite 0..1CodeableConceptNot used in this profile
Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.

... method S0..1CodeableConceptHow it was done
Binding: LOINC Answer List LL4048-6 (extensible)
... specimen S0..1Reference(Genomic Specimen Profile)Specimen used for this observation
... device 0..1Reference(Device | DeviceMetric)(Measurement) Device
... referenceRange C0..*BackboneElementNot used in this profile
.... 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 C0..1SimpleQuantityLow Range, if relevant
.... high C0..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)Not used in this profile
... derivedFrom Σ0..*Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence)Related measurements the observation is made from
... Slices for component SΣ0..*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 SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.

..... value[x] SΣ0..1Actual component result
...... valueQuantityQuantity
...... valueCodeableConceptCodeableConcept
...... valueStringstring
...... valueBooleanboolean
...... valueIntegerinteger
...... valueRangeRange
...... valueRatioRatio
...... valueSampledDataSampledData
...... valueTimetime
...... valueDateTimedateTime
...... valuePeriodPeriod
..... dataAbsentReason C0..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:geneStudied SΣ0..*BackboneElementGene studied [ID]
..... 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 SΣ1..1CodeableConceptType of component observation (code / type)
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] SΣ0..1CodeableConceptActual component result
Binding: HUGO Gene Nomenclature Committee Gene Names Value Set (extensible)
..... dataAbsentReason C0..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:variationCode SΣ0..1BackboneElementDiscrete Genomic variant
..... 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 SΣ1..1CodeableConceptType of component observation (code / type)
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] SΣ0..1CodeableConceptActual component result
Binding: ClinVar Value Set (preferred)
..... dataAbsentReason C0..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:genomicDNAChange SΣ0..1BackboneElementGenomic DNA 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 SΣ1..1CodeableConceptType of component observation (code / type)
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] SΣ0..1CodeableConceptActual component result
Binding: Human Genome Variation Society Sequence Variant Nomenclature Value Set (required)
..... dataAbsentReason C0..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:genomicDNAChangeType SΣ0..1BackboneElementDNA 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 SΣ1..1CodeableConceptType of component observation (code / type)
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] SΣ0..1CodeableConceptActual component result
Binding: DNA Change Type Value Set (extensible)
..... dataAbsentReason C0..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:molecularConsequence SΣ0..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 SΣ1..1CodeableConceptType of component observation (code / type)
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/us/mcode/CodeSystem/loinc-requested-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] SΣ0..1CodeableConceptActual component result
Binding: Genomic Molecular Consequence Value Set (extensible)
..... dataAbsentReason C0..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:genomicSourceClass SΣ0..1BackboneElementGenomic source class [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 SΣ1..1CodeableConceptType of component observation (code / type)
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] SΣ0..1CodeableConceptActual component result
Binding: LOINC Answer List LL378-1 (required)
..... dataAbsentReason C0..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:aminoAcidChange SΣ0..1BackboneElementAmino 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 SΣ1..1CodeableConceptType of component observation (code / type)
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] SΣ0..1CodeableConceptActual component result
Binding: Human Genome Variation Society Sequence Variant Nomenclature Value Set (required)
..... dataAbsentReason C0..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:aminoAcidChangeType SΣ0..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 SΣ1..1CodeableConceptType of component observation (code / type)
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] SΣ0..1CodeableConceptActual component result
Binding: LOINC Answer List LL380-7 (required)
..... dataAbsentReason C0..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:copyNumber SΣ0..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 SΣ1..1CodeableConceptType of component observation (code / type)
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] SΣ0..1QuantityActual component result
..... dataAbsentReason C0..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:sampleAllelicFrequency SΣ0..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 SΣ1..1CodeableConceptType of component observation (code / type)
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] SΣ0..1QuantityActual component result
..... dataAbsentReason C0..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:allelicState SΣ0..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 SΣ1..1CodeableConceptType of component observation (code / type)
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] SΣ0..1CodeableConceptActual component result
Binding: LOINC Answer List LL381-5 (required)
..... dataAbsentReason C0..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:cytogeneticLocation SΣ0..*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 SΣ1..1CodeableConceptType of component observation (code / type)
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] SΣ0..1Actual component result
...... valueQuantityQuantity
...... valueCodeableConceptCodeableConcept
...... valueStringstring
...... valueBooleanboolean
...... valueIntegerinteger
...... valueRangeRange
...... valueRatioRatio
...... valueSampledDataSampledData
...... valueTimetime
...... valueDateTimedateTime
...... valuePeriodPeriod
..... dataAbsentReason C0..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:cytogeneticNomenclature SΣ0..*BackboneElementVariant 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 SΣ1..1CodeableConceptType of component observation (code / type)
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] SΣ0..1Actual component result
...... valueQuantityQuantity
...... valueCodeableConceptCodeableConcept
...... valueStringstring
...... valueBooleanboolean
...... valueIntegerinteger
...... valueRangeRange
...... valueRatioRatio
...... valueSampledDataSampledData
...... valueTimetime
...... valueDateTimedateTime
...... valuePeriodPeriod
..... dataAbsentReason C0..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:clinicalSignificance SΣ0..1BackboneElementGenomic variation clinical significance [Imp]
..... 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 SΣ1..1CodeableConceptType of component observation (code / type)
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: 53037-8
....... 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] SΣ0..1CodeableConceptActual component result
Binding: LOINC Answer List LL4034-6 (required)
..... dataAbsentReason C0..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

Terminology Bindings

PathConformanceValueSet / Code
Observation.languagepreferredCommonLanguages
Additional Bindings Purpose
​ AllLanguages Max Binding
Observation.statusrequiredObservationStatus
Observation.categorypreferredObservationCategoryCodes
Observation.category:LaboratorypreferredPattern: laboratory
Observation.codeextensiblePattern: LOINC code 69548-6
Observation.value[x]requiredLOINC LL1971-2
Observation.dataAbsentReasonextensibleDataAbsentReason
Observation.interpretationextensibleObservationInterpretationCodes
Observation.bodySiteexampleSNOMEDCTBodyStructures
Observation.methodextensibleLOINC LL4048-6
Observation.referenceRange.typepreferredObservationReferenceRangeMeaningCodes
Observation.referenceRange.appliesToexampleObservationReferenceRangeAppliesToCodes
Observation.component.codeexampleLOINCCodes (a valid code from LOINC)
Observation.component.dataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationextensibleObservationInterpretationCodes
Observation.component:geneStudied.codeexamplePattern: LOINC code 48018-6
Observation.component:geneStudied.value[x]extensibleHGNCVS
Observation.component:geneStudied.dataAbsentReasonextensibleDataAbsentReason
Observation.component:geneStudied.interpretationextensibleObservationInterpretationCodes
Observation.component:variationCode.codeexamplePattern: LOINC code 81252-9
Observation.component:variationCode.value[x]preferredClinVarVS
Observation.component:variationCode.dataAbsentReasonextensibleDataAbsentReason
Observation.component:variationCode.interpretationextensibleObservationInterpretationCodes
Observation.component:genomicDNAChange.codeexamplePattern: LOINC code 81290-9
Observation.component:genomicDNAChange.value[x]requiredHGVSVS
Observation.component:genomicDNAChange.dataAbsentReasonextensibleDataAbsentReason
Observation.component:genomicDNAChange.interpretationextensibleObservationInterpretationCodes
Observation.component:genomicDNAChangeType.codeexamplePattern: LOINC code 48019-4
Observation.component:genomicDNAChangeType.value[x]extensibleDNAChangeTypeVS
Observation.component:genomicDNAChangeType.dataAbsentReasonextensibleDataAbsentReason
Observation.component:genomicDNAChangeType.interpretationextensibleObservationInterpretationCodes
Observation.component:molecularConsequence.codeexamplePattern: molecular-consequence
Observation.component:molecularConsequence.value[x]extensibleGenomicMolecularConsequenceVS
Observation.component:molecularConsequence.dataAbsentReasonextensibleDataAbsentReason
Observation.component:molecularConsequence.interpretationextensibleObservationInterpretationCodes
Observation.component:genomicSourceClass.codeexamplePattern: LOINC code 48002-0
Observation.component:genomicSourceClass.value[x]requiredLOINC LL378-1
Observation.component:genomicSourceClass.dataAbsentReasonextensibleDataAbsentReason
Observation.component:genomicSourceClass.interpretationextensibleObservationInterpretationCodes
Observation.component:aminoAcidChange.codeexamplePattern: LOINC code 48005-3
Observation.component:aminoAcidChange.value[x]requiredHGVSVS
Observation.component:aminoAcidChange.dataAbsentReasonextensibleDataAbsentReason
Observation.component:aminoAcidChange.interpretationextensibleObservationInterpretationCodes
Observation.component:aminoAcidChangeType.codeexamplePattern: LOINC code 48006-1
Observation.component:aminoAcidChangeType.value[x]requiredLOINC LL380-7
Observation.component:aminoAcidChangeType.dataAbsentReasonextensibleDataAbsentReason
Observation.component:aminoAcidChangeType.interpretationextensibleObservationInterpretationCodes
Observation.component:copyNumber.codeexamplePattern: LOINC code 82155-3
Observation.component:copyNumber.dataAbsentReasonextensibleDataAbsentReason
Observation.component:copyNumber.interpretationextensibleObservationInterpretationCodes
Observation.component:sampleAllelicFrequency.codeexamplePattern: LOINC code 81258-6
Observation.component:sampleAllelicFrequency.dataAbsentReasonextensibleDataAbsentReason
Observation.component:sampleAllelicFrequency.interpretationextensibleObservationInterpretationCodes
Observation.component:allelicState.codeexamplePattern: LOINC code 53034-5
Observation.component:allelicState.value[x]requiredLOINC LL381-5
Observation.component:allelicState.dataAbsentReasonextensibleDataAbsentReason
Observation.component:allelicState.interpretationextensibleObservationInterpretationCodes
Observation.component:cytogeneticLocation.codeexamplePattern: LOINC code 48001-2
Observation.component:cytogeneticLocation.dataAbsentReasonextensibleDataAbsentReason
Observation.component:cytogeneticLocation.interpretationextensibleObservationInterpretationCodes
Observation.component:cytogeneticNomenclature.codeexamplePattern: LOINC code 81291-7
Observation.component:cytogeneticNomenclature.dataAbsentReasonextensibleDataAbsentReason
Observation.component:cytogeneticNomenclature.interpretationextensibleObservationInterpretationCodes
Observation.component:clinicalSignificance.codeexamplePattern: LOINC code 53037-8
Observation.component:clinicalSignificance.value[x]requiredLOINC LL4034-6
Observation.component:clinicalSignificance.dataAbsentReasonextensibleDataAbsentReason
Observation.component:clinicalSignificance.interpretationextensibleObservationInterpretationCodes

This structure is derived from USCoreLaboratoryResultObservationProfile

Summary

Must-Support: 47 elements

Structures

This structure refers to these other structures:

Slices

This structure defines the following Slices:

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

Differential View

This structure is derived from USCoreLaboratoryResultObservationProfile

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation 0..*USCoreLaboratoryResultObservationProfileMeasurements and simple assertions
... code 1..1CodeableConceptLaboratory Test Name
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
... value[x] 0..1CodeableConceptWhether the variant is present
Binding: LOINC Answer List LL1971-2 (required)
... bodySite 0..1CodeableConceptNot used in this profile
... specimen S0..1Reference(Genomic Specimen Profile)Specimen used for this observation
... referenceRange 0..*BackboneElementNot used in this profile
... hasMember 0..*Reference(Observation | QuestionnaireResponse | MolecularSequence)Not used in this profile
... Slices for component S0..*BackboneElementComponent results
Slice: Unordered, Open by pattern:code
.... component:All Slices Content/Rules for all slices
..... code S1..1CodeableConceptType of component observation (code / type)
..... value[x] S0..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
.... component:geneStudied S0..*BackboneElementGene studied [ID]
..... code S1..1CodeableConceptType of component observation (code / type)
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: 48018-6
..... value[x] S0..1CodeableConceptActual component result
Binding: HUGO Gene Nomenclature Committee Gene Names Value Set (extensible)
.... component:variationCode S0..1BackboneElementDiscrete Genomic variant
..... code S1..1CodeableConceptType of component observation (code / type)
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] S0..1CodeableConceptActual component result
Binding: ClinVar Value Set (preferred)
.... component:genomicDNAChange S0..1BackboneElementGenomic DNA change (gHGVS)
..... code S1..1CodeableConceptType of component observation (code / type)
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] S0..1CodeableConceptActual component result
Binding: Human Genome Variation Society Sequence Variant Nomenclature Value Set (required)
.... component:genomicDNAChangeType S0..1BackboneElementDNA Change Type
..... code S1..1CodeableConceptType of component observation (code / type)
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] S0..1CodeableConceptActual component result
Binding: DNA Change Type Value Set (extensible)
.... component:molecularConsequence S0..1BackboneElementMolecular consequence
..... code S1..1CodeableConceptType of component observation (code / type)
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/us/mcode/CodeSystem/loinc-requested-cs
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: molecular-consequence
..... value[x] S0..1CodeableConceptActual component result
Binding: Genomic Molecular Consequence Value Set (extensible)
.... component:genomicSourceClass S0..1BackboneElementGenomic source class [Type]
..... code S1..1CodeableConceptType of component observation (code / type)
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] S0..1CodeableConceptActual component result
Binding: LOINC Answer List LL378-1 (required)
.... component:aminoAcidChange S0..1BackboneElementAmino acid change (pHGVS)
..... code S1..1CodeableConceptType of component observation (code / type)
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] S0..1CodeableConceptActual component result
Binding: Human Genome Variation Society Sequence Variant Nomenclature Value Set (required)
.... component:aminoAcidChangeType S0..1BackboneElementAmino acid change [Type]
..... code S1..1CodeableConceptType of component observation (code / type)
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] S0..1CodeableConceptActual component result
Binding: LOINC Answer List LL380-7 (required)
.... component:copyNumber S0..1BackboneElementGenomic structural variant copy number
..... code S1..1CodeableConceptType of component observation (code / type)
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] S0..1QuantityActual component result
.... component:sampleAllelicFrequency S0..1BackboneElementsample allelic frequency
..... code S1..1CodeableConceptType of component observation (code / type)
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] S0..1QuantityActual component result
.... component:allelicState S0..1BackboneElementsample allelic frequency
..... code S1..1CodeableConceptType of component observation (code / type)
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] S0..1CodeableConceptActual component result
Binding: LOINC Answer List LL381-5 (required)
.... component:cytogeneticLocation S0..*BackboneElementCytogenetic (chromosome) location
..... code S1..1CodeableConceptType of component observation (code / type)
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: 48001-2
..... value[x] S0..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
.... component:cytogeneticNomenclature S0..*BackboneElementVariant ISCN
..... code S1..1CodeableConceptType of component observation (code / type)
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] S0..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
.... component:clinicalSignificance S0..1BackboneElementGenomic variation clinical significance [Imp]
..... code S1..1CodeableConceptType of component observation (code / type)
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: 53037-8
..... value[x] S0..1CodeableConceptActual component result
Binding: LOINC Answer List LL4034-6 (required)

doco Documentation for this format

Terminology Bindings (Differential)

PathConformanceValueSet
Observation.value[x]requiredLOINC LL1971-2
Observation.methodextensibleLOINC LL4048-6
Observation.component:geneStudied.value[x]extensibleHGNCVS
Observation.component:variationCode.value[x]preferredClinVarVS
Observation.component:genomicDNAChange.value[x]requiredHGVSVS
Observation.component:genomicDNAChangeType.value[x]extensibleDNAChangeTypeVS
Observation.component:molecularConsequence.value[x]extensibleGenomicMolecularConsequenceVS
Observation.component:genomicSourceClass.value[x]requiredLOINC LL378-1
Observation.component:aminoAcidChange.value[x]requiredHGVSVS
Observation.component:aminoAcidChangeType.value[x]requiredLOINC LL380-7
Observation.component:allelicState.value[x]requiredLOINC LL381-5
Observation.component:clinicalSignificance.value[x]requiredLOINC LL4034-6

Key Elements View

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation C0..*USCoreLaboratoryResultObservationProfileMeasurements and simple assertions
... implicitRules ?!Σ0..1uriA set of rules under which this content was created
... modifierExtension ?!0..*ExtensionExtensions that cannot be ignored
... status ?!SΣ1..1coderegistered | preliminary | final | amended +
Binding: ObservationStatus (required)
.... category:Laboratory S1..1CodeableConceptClassification of type of observation
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.



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://terminology.hl7.org/CodeSystem/observation-category
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: laboratory
... code SΣ1..1CodeableConceptLaboratory Test Name
Binding: LOINCCodes (extensible): LOINC codes


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
... subject SΣ1..1Reference(US Core Patient Profile)Who and/or what the observation is about
... effective[x] SΣC0..1Clinically relevant time/time-period for observation
.... effectiveDateTimedateTime
... value[x] SΣC0..1CodeableConceptWhether the variant is present
Binding: LOINC Answer List LL1971-2 (required)
... dataAbsentReason SC0..1CodeableConceptWhy the result is missing
Binding: DataAbsentReason (extensible)
... bodySite 0..1CodeableConceptNot used in this profile
Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.

... method S0..1CodeableConceptHow it was done
Binding: LOINC Answer List LL4048-6 (extensible)
... specimen S0..1Reference(Genomic Specimen Profile)Specimen used for this observation
... referenceRange C0..*BackboneElementNot used in this profile
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
... hasMember Σ0..*Reference(Observation | QuestionnaireResponse | MolecularSequence)Not used in this profile
... Slices for component SΣ0..*BackboneElementComponent results
Slice: Unordered, Open by pattern:code
.... component:All Slices Content/Rules for all slices
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.

..... value[x] SΣ0..1Actual component result
...... valueQuantityQuantity
...... valueCodeableConceptCodeableConcept
...... valueStringstring
...... valueBooleanboolean
...... valueIntegerinteger
...... valueRangeRange
...... valueRatioRatio
...... valueSampledDataSampledData
...... valueTimetime
...... valueDateTimedateTime
...... valuePeriodPeriod
.... component:geneStudied SΣ0..*BackboneElementGene studied [ID]
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


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: 48018-6
..... value[x] SΣ0..1CodeableConceptActual component result
Binding: HUGO Gene Nomenclature Committee Gene Names Value Set (extensible)
.... component:variationCode SΣ0..1BackboneElementDiscrete Genomic variant
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


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] SΣ0..1CodeableConceptActual component result
Binding: ClinVar Value Set (preferred)
.... component:genomicDNAChange SΣ0..1BackboneElementGenomic DNA change (gHGVS)
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


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] SΣ0..1CodeableConceptActual component result
Binding: Human Genome Variation Society Sequence Variant Nomenclature Value Set (required)
.... component:genomicDNAChangeType SΣ0..1BackboneElementDNA Change Type
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


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] SΣ0..1CodeableConceptActual component result
Binding: DNA Change Type Value Set (extensible)
.... component:molecularConsequence SΣ0..1BackboneElementMolecular consequence
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


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/us/mcode/CodeSystem/loinc-requested-cs
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: molecular-consequence
..... value[x] SΣ0..1CodeableConceptActual component result
Binding: Genomic Molecular Consequence Value Set (extensible)
.... component:genomicSourceClass SΣ0..1BackboneElementGenomic source class [Type]
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


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] SΣ0..1CodeableConceptActual component result
Binding: LOINC Answer List LL378-1 (required)
.... component:aminoAcidChange SΣ0..1BackboneElementAmino acid change (pHGVS)
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


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] SΣ0..1CodeableConceptActual component result
Binding: Human Genome Variation Society Sequence Variant Nomenclature Value Set (required)
.... component:aminoAcidChangeType SΣ0..1BackboneElementAmino acid change [Type]
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


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] SΣ0..1CodeableConceptActual component result
Binding: LOINC Answer List LL380-7 (required)
.... component:copyNumber SΣ0..1BackboneElementGenomic structural variant copy number
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


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] SΣ0..1QuantityActual component result
.... component:sampleAllelicFrequency SΣ0..1BackboneElementsample allelic frequency
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


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] SΣ0..1QuantityActual component result
.... component:allelicState SΣ0..1BackboneElementsample allelic frequency
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


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] SΣ0..1CodeableConceptActual component result
Binding: LOINC Answer List LL381-5 (required)
.... component:cytogeneticLocation SΣ0..*BackboneElementCytogenetic (chromosome) location
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


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: 48001-2
..... value[x] SΣ0..1Actual component result
...... valueQuantityQuantity
...... valueCodeableConceptCodeableConcept
...... valueStringstring
...... valueBooleanboolean
...... valueIntegerinteger
...... valueRangeRange
...... valueRatioRatio
...... valueSampledDataSampledData
...... valueTimetime
...... valueDateTimedateTime
...... valuePeriodPeriod
.... component:cytogeneticNomenclature SΣ0..*BackboneElementVariant ISCN
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


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] SΣ0..1Actual component result
...... valueQuantityQuantity
...... valueCodeableConceptCodeableConcept
...... valueStringstring
...... valueBooleanboolean
...... valueIntegerinteger
...... valueRangeRange
...... valueRatioRatio
...... valueSampledDataSampledData
...... valueTimetime
...... valueDateTimedateTime
...... valuePeriodPeriod
.... component:clinicalSignificance SΣ0..1BackboneElementGenomic variation clinical significance [Imp]
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


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: 53037-8
..... value[x] SΣ0..1CodeableConceptActual component result
Binding: LOINC Answer List LL4034-6 (required)

doco Documentation for this format

Terminology Bindings

PathConformanceValueSet / Code
Observation.statusrequiredObservationStatus
Observation.categorypreferredObservationCategoryCodes
Observation.category:LaboratorypreferredPattern: laboratory
Observation.codeextensiblePattern: LOINC code 69548-6
Observation.value[x]requiredLOINC LL1971-2
Observation.dataAbsentReasonextensibleDataAbsentReason
Observation.bodySiteexampleSNOMEDCTBodyStructures
Observation.methodextensibleLOINC LL4048-6
Observation.component.codeexampleLOINCCodes (a valid code from LOINC)
Observation.component:geneStudied.codeexamplePattern: LOINC code 48018-6
Observation.component:geneStudied.value[x]extensibleHGNCVS
Observation.component:variationCode.codeexamplePattern: LOINC code 81252-9
Observation.component:variationCode.value[x]preferredClinVarVS
Observation.component:genomicDNAChange.codeexamplePattern: LOINC code 81290-9
Observation.component:genomicDNAChange.value[x]requiredHGVSVS
Observation.component:genomicDNAChangeType.codeexamplePattern: LOINC code 48019-4
Observation.component:genomicDNAChangeType.value[x]extensibleDNAChangeTypeVS
Observation.component:molecularConsequence.codeexamplePattern: molecular-consequence
Observation.component:molecularConsequence.value[x]extensibleGenomicMolecularConsequenceVS
Observation.component:genomicSourceClass.codeexamplePattern: LOINC code 48002-0
Observation.component:genomicSourceClass.value[x]requiredLOINC LL378-1
Observation.component:aminoAcidChange.codeexamplePattern: LOINC code 48005-3
Observation.component:aminoAcidChange.value[x]requiredHGVSVS
Observation.component:aminoAcidChangeType.codeexamplePattern: LOINC code 48006-1
Observation.component:aminoAcidChangeType.value[x]requiredLOINC LL380-7
Observation.component:copyNumber.codeexamplePattern: LOINC code 82155-3
Observation.component:sampleAllelicFrequency.codeexamplePattern: LOINC code 81258-6
Observation.component:allelicState.codeexamplePattern: LOINC code 53034-5
Observation.component:allelicState.value[x]requiredLOINC LL381-5
Observation.component:cytogeneticLocation.codeexamplePattern: LOINC code 48001-2
Observation.component:cytogeneticNomenclature.codeexamplePattern: LOINC code 81291-7
Observation.component:clinicalSignificance.codeexamplePattern: LOINC code 53037-8
Observation.component:clinicalSignificance.value[x]requiredLOINC LL4034-6

Snapshot View

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation C0..*USCoreLaboratoryResultObservationProfileMeasurements and simple assertions
... id Σ0..1idLogical 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
... extension 0..*ExtensionAdditional content defined by implementations
... 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 ?!SΣ1..1coderegistered | preliminary | final | amended +
Binding: ObservationStatus (required)
... Slices for category S1..*CodeableConceptClassification of type of observation
Slice: Unordered, Open by pattern:$this
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.


.... category:Laboratory S1..1CodeableConceptClassification of type of observation
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.



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://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
..... text0..1stringPlain text representation of the concept
... code SΣ1..1CodeableConceptLaboratory Test Name
Binding: LOINCCodes (extensible): LOINC codes


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 SΣ1..1Reference(US Core Patient Profile)Who and/or what the observation is about
... focus ΣTU0..*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] SΣC0..1Clinically relevant time/time-period for observation
.... effectiveDateTimedateTime S
.... 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
... value[x] SΣC0..1CodeableConcept SWhether the variant is present
Binding: LOINC Answer List LL1971-2 (required)
... dataAbsentReason SC0..1CodeableConceptWhy the result is missing
Binding: DataAbsentReason (extensible)
... interpretation 0..*CodeableConceptHigh, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.


... note 0..*AnnotationComments about the observation
... bodySite 0..1CodeableConceptNot used in this profile
Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.

... method S0..1CodeableConceptHow it was done
Binding: LOINC Answer List LL4048-6 (extensible)
... specimen S0..1Reference(Genomic Specimen Profile)Specimen used for this observation
... device 0..1Reference(Device | DeviceMetric)(Measurement) Device
... referenceRange C0..*BackboneElementNot used in this profile
.... 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 C0..1SimpleQuantityLow Range, if relevant
.... high C0..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)Not used in this profile
... derivedFrom Σ0..*Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence)Related measurements the observation is made from
... Slices for component SΣ0..*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 SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.

..... value[x] SΣ0..1Actual component result
...... valueQuantityQuantity
...... valueCodeableConceptCodeableConcept
...... valueStringstring
...... valueBooleanboolean
...... valueIntegerinteger
...... valueRangeRange
...... valueRatioRatio
...... valueSampledDataSampledData
...... valueTimetime
...... valueDateTimedateTime
...... valuePeriodPeriod
..... dataAbsentReason C0..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:geneStudied SΣ0..*BackboneElementGene studied [ID]
..... 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 SΣ1..1CodeableConceptType of component observation (code / type)
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] SΣ0..1CodeableConceptActual component result
Binding: HUGO Gene Nomenclature Committee Gene Names Value Set (extensible)
..... dataAbsentReason C0..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:variationCode SΣ0..1BackboneElementDiscrete Genomic variant
..... 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 SΣ1..1CodeableConceptType of component observation (code / type)
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] SΣ0..1CodeableConceptActual component result
Binding: ClinVar Value Set (preferred)
..... dataAbsentReason C0..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:genomicDNAChange SΣ0..1BackboneElementGenomic DNA 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 SΣ1..1CodeableConceptType of component observation (code / type)
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] SΣ0..1CodeableConceptActual component result
Binding: Human Genome Variation Society Sequence Variant Nomenclature Value Set (required)
..... dataAbsentReason C0..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:genomicDNAChangeType SΣ0..1BackboneElementDNA 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 SΣ1..1CodeableConceptType of component observation (code / type)
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] SΣ0..1CodeableConceptActual component result
Binding: DNA Change Type Value Set (extensible)
..... dataAbsentReason C0..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:molecularConsequence SΣ0..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 SΣ1..1CodeableConceptType of component observation (code / type)
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/us/mcode/CodeSystem/loinc-requested-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] SΣ0..1CodeableConceptActual component result
Binding: Genomic Molecular Consequence Value Set (extensible)
..... dataAbsentReason C0..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:genomicSourceClass SΣ0..1BackboneElementGenomic source class [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 SΣ1..1CodeableConceptType of component observation (code / type)
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] SΣ0..1CodeableConceptActual component result
Binding: LOINC Answer List LL378-1 (required)
..... dataAbsentReason C0..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:aminoAcidChange SΣ0..1BackboneElementAmino 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 SΣ1..1CodeableConceptType of component observation (code / type)
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] SΣ0..1CodeableConceptActual component result
Binding: Human Genome Variation Society Sequence Variant Nomenclature Value Set (required)
..... dataAbsentReason C0..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:aminoAcidChangeType SΣ0..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 SΣ1..1CodeableConceptType of component observation (code / type)
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] SΣ0..1CodeableConceptActual component result
Binding: LOINC Answer List LL380-7 (required)
..... dataAbsentReason C0..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:copyNumber SΣ0..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 SΣ1..1CodeableConceptType of component observation (code / type)
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] SΣ0..1QuantityActual component result
..... dataAbsentReason C0..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:sampleAllelicFrequency SΣ0..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 SΣ1..1CodeableConceptType of component observation (code / type)
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] SΣ0..1QuantityActual component result
..... dataAbsentReason C0..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:allelicState SΣ0..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 SΣ1..1CodeableConceptType of component observation (code / type)
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] SΣ0..1CodeableConceptActual component result
Binding: LOINC Answer List LL381-5 (required)
..... dataAbsentReason C0..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:cytogeneticLocation SΣ0..*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 SΣ1..1CodeableConceptType of component observation (code / type)
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] SΣ0..1Actual component result
...... valueQuantityQuantity
...... valueCodeableConceptCodeableConcept
...... valueStringstring
...... valueBooleanboolean
...... valueIntegerinteger
...... valueRangeRange
...... valueRatioRatio
...... valueSampledDataSampledData
...... valueTimetime
...... valueDateTimedateTime
...... valuePeriodPeriod
..... dataAbsentReason C0..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:cytogeneticNomenclature SΣ0..*BackboneElementVariant 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 SΣ1..1CodeableConceptType of component observation (code / type)
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] SΣ0..1Actual component result
...... valueQuantityQuantity
...... valueCodeableConceptCodeableConcept
...... valueStringstring
...... valueBooleanboolean
...... valueIntegerinteger
...... valueRangeRange
...... valueRatioRatio
...... valueSampledDataSampledData
...... valueTimetime
...... valueDateTimedateTime
...... valuePeriodPeriod
..... dataAbsentReason C0..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:clinicalSignificance SΣ0..1BackboneElementGenomic variation clinical significance [Imp]
..... 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 SΣ1..1CodeableConceptType of component observation (code / type)
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: 53037-8
....... 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] SΣ0..1CodeableConceptActual component result
Binding: LOINC Answer List LL4034-6 (required)
..... dataAbsentReason C0..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

Terminology Bindings

PathConformanceValueSet / Code
Observation.languagepreferredCommonLanguages
Additional Bindings Purpose
​ AllLanguages Max Binding
Observation.statusrequiredObservationStatus
Observation.categorypreferredObservationCategoryCodes
Observation.category:LaboratorypreferredPattern: laboratory
Observation.codeextensiblePattern: LOINC code 69548-6
Observation.value[x]requiredLOINC LL1971-2
Observation.dataAbsentReasonextensibleDataAbsentReason
Observation.interpretationextensibleObservationInterpretationCodes
Observation.bodySiteexampleSNOMEDCTBodyStructures
Observation.methodextensibleLOINC LL4048-6
Observation.referenceRange.typepreferredObservationReferenceRangeMeaningCodes
Observation.referenceRange.appliesToexampleObservationReferenceRangeAppliesToCodes
Observation.component.codeexampleLOINCCodes (a valid code from LOINC)
Observation.component.dataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationextensibleObservationInterpretationCodes
Observation.component:geneStudied.codeexamplePattern: LOINC code 48018-6
Observation.component:geneStudied.value[x]extensibleHGNCVS
Observation.component:geneStudied.dataAbsentReasonextensibleDataAbsentReason
Observation.component:geneStudied.interpretationextensibleObservationInterpretationCodes
Observation.component:variationCode.codeexamplePattern: LOINC code 81252-9
Observation.component:variationCode.value[x]preferredClinVarVS
Observation.component:variationCode.dataAbsentReasonextensibleDataAbsentReason
Observation.component:variationCode.interpretationextensibleObservationInterpretationCodes
Observation.component:genomicDNAChange.codeexamplePattern: LOINC code 81290-9
Observation.component:genomicDNAChange.value[x]requiredHGVSVS
Observation.component:genomicDNAChange.dataAbsentReasonextensibleDataAbsentReason
Observation.component:genomicDNAChange.interpretationextensibleObservationInterpretationCodes
Observation.component:genomicDNAChangeType.codeexamplePattern: LOINC code 48019-4
Observation.component:genomicDNAChangeType.value[x]extensibleDNAChangeTypeVS
Observation.component:genomicDNAChangeType.dataAbsentReasonextensibleDataAbsentReason
Observation.component:genomicDNAChangeType.interpretationextensibleObservationInterpretationCodes
Observation.component:molecularConsequence.codeexamplePattern: molecular-consequence
Observation.component:molecularConsequence.value[x]extensibleGenomicMolecularConsequenceVS
Observation.component:molecularConsequence.dataAbsentReasonextensibleDataAbsentReason
Observation.component:molecularConsequence.interpretationextensibleObservationInterpretationCodes
Observation.component:genomicSourceClass.codeexamplePattern: LOINC code 48002-0
Observation.component:genomicSourceClass.value[x]requiredLOINC LL378-1
Observation.component:genomicSourceClass.dataAbsentReasonextensibleDataAbsentReason
Observation.component:genomicSourceClass.interpretationextensibleObservationInterpretationCodes
Observation.component:aminoAcidChange.codeexamplePattern: LOINC code 48005-3
Observation.component:aminoAcidChange.value[x]requiredHGVSVS
Observation.component:aminoAcidChange.dataAbsentReasonextensibleDataAbsentReason
Observation.component:aminoAcidChange.interpretationextensibleObservationInterpretationCodes
Observation.component:aminoAcidChangeType.codeexamplePattern: LOINC code 48006-1
Observation.component:aminoAcidChangeType.value[x]requiredLOINC LL380-7
Observation.component:aminoAcidChangeType.dataAbsentReasonextensibleDataAbsentReason
Observation.component:aminoAcidChangeType.interpretationextensibleObservationInterpretationCodes
Observation.component:copyNumber.codeexamplePattern: LOINC code 82155-3
Observation.component:copyNumber.dataAbsentReasonextensibleDataAbsentReason
Observation.component:copyNumber.interpretationextensibleObservationInterpretationCodes
Observation.component:sampleAllelicFrequency.codeexamplePattern: LOINC code 81258-6
Observation.component:sampleAllelicFrequency.dataAbsentReasonextensibleDataAbsentReason
Observation.component:sampleAllelicFrequency.interpretationextensibleObservationInterpretationCodes
Observation.component:allelicState.codeexamplePattern: LOINC code 53034-5
Observation.component:allelicState.value[x]requiredLOINC LL381-5
Observation.component:allelicState.dataAbsentReasonextensibleDataAbsentReason
Observation.component:allelicState.interpretationextensibleObservationInterpretationCodes
Observation.component:cytogeneticLocation.codeexamplePattern: LOINC code 48001-2
Observation.component:cytogeneticLocation.dataAbsentReasonextensibleDataAbsentReason
Observation.component:cytogeneticLocation.interpretationextensibleObservationInterpretationCodes
Observation.component:cytogeneticNomenclature.codeexamplePattern: LOINC code 81291-7
Observation.component:cytogeneticNomenclature.dataAbsentReasonextensibleDataAbsentReason
Observation.component:cytogeneticNomenclature.interpretationextensibleObservationInterpretationCodes
Observation.component:clinicalSignificance.codeexamplePattern: LOINC code 53037-8
Observation.component:clinicalSignificance.value[x]requiredLOINC LL4034-6
Observation.component:clinicalSignificance.dataAbsentReasonextensibleDataAbsentReason
Observation.component:clinicalSignificance.interpretationextensibleObservationInterpretationCodes

This structure is derived from USCoreLaboratoryResultObservationProfile

Summary

Must-Support: 47 elements

Structures

This structure refers to these other structures:

Slices

This structure defines the following Slices:

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

 

Other representations of profile: CSV, Excel, Schematron