minimal Common Oncology Data Elements (mCODE) Implementation Guide
2.0.0 - STU 2
minimal Common Oncology Data Elements (mCODE) Implementation Guide
2.0.0 - STU 2
This page is part of the HL7 FHIR Implementation Guide: minimal Common Oncology Data Elements (mCODE) Release 1 - US Realm | STU1 (v2.0.0: STU 2) based on FHIR R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions 
| Defining URL: | http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant |
| Version: | 2.0.0 |
| Name: | GenomicVariant |
| Title: | Genomic Variant Profile |
| Status: | Active as of 1/18/22 3:17 AM |
| Definition: | 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. |
| Publisher: | HL7 International Clinical Interoperability Council |
| Source Resource: | XML / JSON / Turtle |
The official URL for this profile is:
http://hl7.org/fhir/us/mcode/StructureDefinition/mcode-genomic-variant
GenomicVariant SHOULD be sent as part of a GenomicsReport and MAY be sent as a standalone observation.
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.
Description of Profiles, Differentials, Snapshots and how the different presentations work.
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:
This structure is derived from USCoreLaboratoryResultObservationProfile
| Name | Flags | Card. | Type | Description & Constraints |
|---|---|---|---|---|
  Observation | 0..* | USCoreLaboratoryResultObservationProfile | Measurements and simple assertions | |
  code | 1..1 | CodeableConcept | Laboratory Test Name Required Pattern: At least the following | |
   coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
  system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
 code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 69548-6 | |
 value[x] | 0..1 | CodeableConcept | Whether the variant is present Binding: LOINC Answer List LL1971-2 (required) | |
| bodySite | 0..1 | CodeableConcept | Not used in this profile | |
| method | S | 0..1 | CodeableConcept | How it was done Binding: LOINC Answer List LL4048-6 (extensible) |
 specimen | S | 0..1 | Reference(Genomic Specimen Profile) | Specimen used for this observation |
| referenceRange | 0..* | BackboneElement | Not used in this profile | |
| hasMember | 0..* | Reference(Observation | QuestionnaireResponse | MolecularSequence) | Not used in this profile | |
 Slices for component | S | 0..* | BackboneElement | Component results Slice: Unordered, Open by pattern:code |
 component:All Slices | Content/Rules for all slices | |||
  code | S | 1..1 | CodeableConcept | Type of component observation (code / type) |
 value[x] | S | 0..1 | Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period | Actual component result |
 component:geneStudied | S | 0..* | BackboneElement | Gene studied [ID] |
 code | S | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following |
 coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48018-6 | |
 value[x] | S | 0..1 | CodeableConcept | Actual component result Binding: HUGO Gene Nomenclature Committee Gene Names Value Set (extensible) |
| component:variationCode | S | 0..1 | BackboneElement | Discrete Genomic variant |
| code | S | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81252-9 | |
| value[x] | S | 0..1 | CodeableConcept | Actual component result Binding: ClinVar Value Set (preferred) |
| component:genomicDNAChange | S | 0..1 | BackboneElement | Genomic DNA change (gHGVS) |
| code | S | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81290-9 | |
| value[x] | S | 0..1 | CodeableConcept | Actual component result Binding: Human Genome Variation Society Sequence Variant Nomenclature Value Set (required) |
| component:genomicDNAChangeType | S | 0..1 | BackboneElement | DNA Change Type |
| code | S | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48019-4 | |
| value[x] | S | 0..1 | CodeableConcept | Actual component result Binding: DNA Change Type Value Set (extensible) |
| component:molecularConsequence | S | 0..1 | BackboneElement | Molecular consequence |
| code | S | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/us/mcode/CodeSystem/loinc-requested-cs | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: molecular-consequence | |
| value[x] | S | 0..1 | CodeableConcept | Actual component result Binding: Genomic Molecular Consequence Value Set (extensible) |
| component:genomicSourceClass | S | 0..1 | BackboneElement | Genomic source class [Type] |
| code | S | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48002-0 | |
| value[x] | S | 0..1 | CodeableConcept | Actual component result Binding: LOINC Answer List LL378-1 (required) |
| component:aminoAcidChange | S | 0..1 | BackboneElement | Amino acid change (pHGVS) |
| code | S | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48005-3 | |
| value[x] | S | 0..1 | CodeableConcept | Actual component result Binding: Human Genome Variation Society Sequence Variant Nomenclature Value Set (required) |
| component:aminoAcidChangeType | S | 0..1 | BackboneElement | Amino acid change [Type] |
| code | S | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48006-1 | |
| value[x] | S | 0..1 | CodeableConcept | Actual component result Binding: LOINC Answer List LL380-7 (required) |
| component:copyNumber | S | 0..1 | BackboneElement | Genomic structural variant copy number |
| code | S | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 82155-3 | |
| value[x] | S | 0..1 | Quantity | Actual component result |
| component:sampleAllelicFrequency | S | 0..1 | BackboneElement | sample allelic frequency |
| code | S | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81258-6 | |
| value[x] | S | 0..1 | Quantity | Actual component result |
| component:allelicState | S | 0..1 | BackboneElement | sample allelic frequency |
| code | S | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 53034-5 | |
| value[x] | S | 0..1 | CodeableConcept | Actual component result Binding: LOINC Answer List LL381-5 (required) |
| component:cytogeneticLocation | S | 0..* | BackboneElement | Cytogenetic (chromosome) location |
| code | S | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48001-2 | |
| value[x] | S | 0..1 | Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period | Actual component result |
| component:cytogeneticNomenclature | S | 0..* | BackboneElement | Variant ISCN |
| code | S | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81291-7 | |
| value[x] | S | 0..1 | Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period | Actual component result |
 component:clinicalSignificance | S | 0..1 | BackboneElement | Genomic variation clinical significance [Imp] |
| code | S | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 53037-8 | |
| value[x] | S | 0..1 | CodeableConcept | Actual component result Binding: LOINC Answer List LL4034-6 (required) |
| Documentation for this format | ||||
| Name | Flags | Card. | Type | Description & Constraints |
|---|---|---|---|---|
| Observation | I | 0..* | USCoreLaboratoryResultObservationProfile | Measurements and simple assertions |
 id | Σ | 0..1 | string | Logical id of this artifact |
| meta | Σ | 0..1 | Meta | Metadata about the resource |
| implicitRules | ?!Σ | 0..1 | uri | A set of rules under which this content was created |
| language | 0..1 | code | Language of the resource content Binding: CommonLanguages (preferred) Max Binding: AllLanguages: A human language. | |
| text | 0..1 | Narrative | Text summary of the resource, for human interpretation | |
| contained | 0..* | Resource | Contained, inline Resources | |
 extension | 0..* | Extension | Additional content defined by implementations | |
 modifierExtension | ?! | 0..* | Extension | Extensions that cannot be ignored |
| identifier | Σ | 0..* | Identifier | Business Identifier for observation |
| basedOn | Σ | 0..* | Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) | Fulfills plan, proposal or order |
| partOf | Σ | 0..* | Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy) | Part of referenced event |
| status | ?!SΣ | 1..1 | code | registered | preliminary | final | amended + Binding: ObservationStatus (required) |
| Slices for category | S | 1..* | CodeableConcept | Classification of type of observation Slice: Unordered, Open by pattern:$this Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. |
| category:Laboratory | S | 1..1 | CodeableConcept | Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. Required Pattern: At least the following |
 id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category | |
| version | 0..1 | string | Version of the system - if relevant | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: laboratory | |
| display | 0..1 | string | Representation defined by the system | |
| userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |
| text | 0..1 | string | Plain text representation of the concept | |
| code | SΣ | 1..1 | CodeableConcept | Laboratory Test Name Binding: LOINCCodes (extensible): LOINC codes Required Pattern: At least the following |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| version | 0..1 | string | Version of the system - if relevant | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 69548-6 | |
| display | 0..1 | string | Representation defined by the system | |
| userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |
| text | 0..1 | string | Plain text representation of the concept | |
| subject | SΣ | 1..1 | Reference(US Core Patient Profile) | Who and/or what the observation is about |
| focus | Σ | 0..* | Reference(Resource) | What the observation is about, when it is not about the subject of record |
| encounter | Σ | 0..1 | Reference(Encounter) | Healthcare event during which this observation is made |
 effective[x] | SΣI | 0..1 | Clinically relevant time/time-period for observation us-core-1: Datetime must be at least to day. | |
| effectiveDateTime | dateTime S | |||
| effectivePeriod | Period | |||
| effectiveTiming | Timing | |||
| effectiveInstant | instant | |||
| issued | Σ | 0..1 | instant | Date/Time this version was made available |
| performer | Σ | 0..* | Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson) | Who is responsible for the observation |
| value[x] | SΣI | 0..1 | CodeableConcept S | Whether the variant is present Binding: LOINC Answer List LL1971-2 (required) |
| dataAbsentReason | SI | 0..1 | CodeableConcept | Why the result is missing Binding: DataAbsentReason (extensible) |
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |
| note | 0..* | Annotation | Comments about the observation | |
| bodySite | 0..1 | CodeableConcept | Not used in this profile Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality. | |
| method | S | 0..1 | CodeableConcept | How it was done Binding: LOINC Answer List LL4048-6 (extensible) |
| specimen | S | 0..1 | Reference(Genomic Specimen Profile) | Specimen used for this observation |
| device | 0..1 | Reference(Device | DeviceMetric) | (Measurement) Device | |
| referenceRange | I | 0..* | BackboneElement | Not used in this profile |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| low | I | 0..1 | SimpleQuantity | Low Range, if relevant |
| high | I | 0..1 | SimpleQuantity | High Range, if relevant |
| type | 0..1 | CodeableConcept | Reference range qualifier Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range. | |
| appliesTo | 0..* | CodeableConcept | Reference range population Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to. | |
| age | 0..1 | Range | Applicable age range, if relevant | |
| text | 0..1 | string | Text based reference range in an observation | |
| hasMember | Σ | 0..* | Reference(Observation | QuestionnaireResponse | MolecularSequence) | Not used in this profile |
| derivedFrom | Σ | 0..* | Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) | Related measurements the observation is made from |
| Slices for component | SΣ | 0..* | BackboneElement | Component results Slice: Unordered, Open by pattern:code |
| component:All Slices | Content/Rules for all slices | |||
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code | SΣ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. |
| value[x] | SΣ | 0..1 | Actual component result | |
| valueQuantity | Quantity | |||
| valueCodeableConcept | CodeableConcept | |||
| valueString | string | |||
| valueBoolean | boolean | |||
| valueInteger | integer | |||
| valueRange | Range | |||
| valueRatio | Ratio | |||
| valueSampledData | SampledData | |||
| valueTime | time | |||
| valueDateTime | dateTime | |||
| valuePeriod | Period | |||
| dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. |
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |
| referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |
| component:geneStudied | SΣ | 0..* | BackboneElement | Gene studied [ID] |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code | SΣ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| version | 0..1 | string | Version of the system - if relevant | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48018-6 | |
| display | 0..1 | string | Representation defined by the system | |
| userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |
| text | 0..1 | string | Plain text representation of the concept | |
| value[x] | SΣ | 0..1 | CodeableConcept | Actual component result Binding: HUGO Gene Nomenclature Committee Gene Names Value Set (extensible) |
| dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. |
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |
| referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |
| component:variationCode | SΣ | 0..1 | BackboneElement | Discrete Genomic variant |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code | SΣ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| version | 0..1 | string | Version of the system - if relevant | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81252-9 | |
| display | 0..1 | string | Representation defined by the system | |
| userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |
| text | 0..1 | string | Plain text representation of the concept | |
| value[x] | SΣ | 0..1 | CodeableConcept | Actual component result Binding: ClinVar Value Set (preferred) |
| dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. |
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |
| referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |
| component:genomicDNAChange | SΣ | 0..1 | BackboneElement | Genomic DNA change (gHGVS) |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code | SΣ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| version | 0..1 | string | Version of the system - if relevant | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81290-9 | |
| display | 0..1 | string | Representation defined by the system | |
| userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |
| text | 0..1 | string | Plain text representation of the concept | |
| value[x] | SΣ | 0..1 | CodeableConcept | Actual component result Binding: Human Genome Variation Society Sequence Variant Nomenclature Value Set (required) |
| dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. |
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |
| referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |
| component:genomicDNAChangeType | SΣ | 0..1 | BackboneElement | DNA Change Type |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code | SΣ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| version | 0..1 | string | Version of the system - if relevant | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48019-4 | |
| display | 0..1 | string | Representation defined by the system | |
| userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |
| text | 0..1 | string | Plain text representation of the concept | |
| value[x] | SΣ | 0..1 | CodeableConcept | Actual component result Binding: DNA Change Type Value Set (extensible) |
| dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. |
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |
| referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |
| component:molecularConsequence | SΣ | 0..1 | BackboneElement | Molecular consequence |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code | SΣ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/us/mcode/CodeSystem/loinc-requested-cs | |
| version | 0..1 | string | Version of the system - if relevant | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: molecular-consequence | |
| display | 0..1 | string | Representation defined by the system | |
| userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |
| text | 0..1 | string | Plain text representation of the concept | |
| value[x] | SΣ | 0..1 | CodeableConcept | Actual component result Binding: Genomic Molecular Consequence Value Set (extensible) |
| dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. |
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |
| referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |
| component:genomicSourceClass | SΣ | 0..1 | BackboneElement | Genomic source class [Type] |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code | SΣ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| version | 0..1 | string | Version of the system - if relevant | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48002-0 | |
| display | 0..1 | string | Representation defined by the system | |
| userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |
| text | 0..1 | string | Plain text representation of the concept | |
| value[x] | SΣ | 0..1 | CodeableConcept | Actual component result Binding: LOINC Answer List LL378-1 (required) |
| dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. |
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |
| referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |
| component:aminoAcidChange | SΣ | 0..1 | BackboneElement | Amino acid change (pHGVS) |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code | SΣ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| version | 0..1 | string | Version of the system - if relevant | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48005-3 | |
| display | 0..1 | string | Representation defined by the system | |
| userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |
| text | 0..1 | string | Plain text representation of the concept | |
| value[x] | SΣ | 0..1 | CodeableConcept | Actual component result Binding: Human Genome Variation Society Sequence Variant Nomenclature Value Set (required) |
| dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. |
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |
| referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |
| component:aminoAcidChangeType | SΣ | 0..1 | BackboneElement | Amino acid change [Type] |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code | SΣ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| version | 0..1 | string | Version of the system - if relevant | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48006-1 | |
| display | 0..1 | string | Representation defined by the system | |
| userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |
| text | 0..1 | string | Plain text representation of the concept | |
| value[x] | SΣ | 0..1 | CodeableConcept | Actual component result Binding: LOINC Answer List LL380-7 (required) |
| dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. |
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |
| referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |
| component:copyNumber | SΣ | 0..1 | BackboneElement | Genomic structural variant copy number |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code | SΣ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| version | 0..1 | string | Version of the system - if relevant | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 82155-3 | |
| display | 0..1 | string | Representation defined by the system | |
| userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |
| text | 0..1 | string | Plain text representation of the concept | |
| value[x] | SΣ | 0..1 | Quantity | Actual component result |
| dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. |
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |
| referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |
| component:sampleAllelicFrequency | SΣ | 0..1 | BackboneElement | sample allelic frequency |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code | SΣ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| version | 0..1 | string | Version of the system - if relevant | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81258-6 | |
| display | 0..1 | string | Representation defined by the system | |
| userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |
| text | 0..1 | string | Plain text representation of the concept | |
| value[x] | SΣ | 0..1 | Quantity | Actual component result |
| dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. |
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |
| referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |
| component:allelicState | SΣ | 0..1 | BackboneElement | sample allelic frequency |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code | SΣ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| version | 0..1 | string | Version of the system - if relevant | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 53034-5 | |
| display | 0..1 | string | Representation defined by the system | |
| userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |
| text | 0..1 | string | Plain text representation of the concept | |
| value[x] | SΣ | 0..1 | CodeableConcept | Actual component result Binding: LOINC Answer List LL381-5 (required) |
| dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. |
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |
| referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |
| component:cytogeneticLocation | SΣ | 0..* | BackboneElement | Cytogenetic (chromosome) location |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code | SΣ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| version | 0..1 | string | Version of the system - if relevant | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48001-2 | |
| display | 0..1 | string | Representation defined by the system | |
| userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |
| text | 0..1 | string | Plain text representation of the concept | |
| value[x] | SΣ | 0..1 | Actual component result | |
| valueQuantity | Quantity | |||
| valueCodeableConcept | CodeableConcept | |||
| valueString | string | |||
| valueBoolean | boolean | |||
| valueInteger | integer | |||
| valueRange | Range | |||
| valueRatio | Ratio | |||
| valueSampledData | SampledData | |||
| valueTime | time | |||
| valueDateTime | dateTime | |||
| valuePeriod | Period | |||
| dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. |
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |
| referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |
| component:cytogeneticNomenclature | SΣ | 0..* | BackboneElement | Variant ISCN |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code | SΣ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| version | 0..1 | string | Version of the system - if relevant | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81291-7 | |
| display | 0..1 | string | Representation defined by the system | |
| userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |
| text | 0..1 | string | Plain text representation of the concept | |
| value[x] | SΣ | 0..1 | Actual component result | |
| valueQuantity | Quantity | |||
| valueCodeableConcept | CodeableConcept | |||
| valueString | string | |||
| valueBoolean | boolean | |||
| valueInteger | integer | |||
| valueRange | Range | |||
| valueRatio | Ratio | |||
| valueSampledData | SampledData | |||
| valueTime | time | |||
| valueDateTime | dateTime | |||
| valuePeriod | Period | |||
| dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. |
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |
| referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |
| component:clinicalSignificance | SΣ | 0..1 | BackboneElement | Genomic variation clinical significance [Imp] |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code | SΣ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| version | 0..1 | string | Version of the system - if relevant | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 53037-8 | |
| display | 0..1 | string | Representation defined by the system | |
| userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |
| text | 0..1 | string | Plain text representation of the concept | |
| value[x] | SΣ | 0..1 | CodeableConcept | Actual component result Binding: LOINC Answer List LL4034-6 (required) |
| dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. |
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |
| referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |
| Documentation for this format | ||||
| Name | Flags | Card. | Type | Description & Constraints |
|---|---|---|---|---|
| Observation | I | 0..* | USCoreLaboratoryResultObservationProfile | Measurements and simple assertions |
| status | ?!Σ | 1..1 | code | registered | preliminary | final | amended + Binding: ObservationStatus (required) |
| Slices for category | 1..* | CodeableConcept | Classification of type of observation Slice: Unordered, Open by pattern:$this Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. | |
| category:Laboratory | 1..1 | CodeableConcept | Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. Required Pattern: At least the following | |
 coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: laboratory | |
| code | Σ | 1..1 | CodeableConcept | Laboratory Test Name Binding: LOINCCodes (extensible): LOINC codes Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 69548-6 | |
| subject | Σ | 1..1 | Reference(US Core Patient Profile) | Who and/or what the observation is about |
| effective[x] | ΣI | 0..1 | Clinically relevant time/time-period for observation us-core-1: Datetime must be at least to day. | |
| effectiveDateTime | dateTime | |||
| value[x] | ΣI | 0..1 | CodeableConcept | Whether the variant is present Binding: LOINC Answer List LL1971-2 (required) |
| dataAbsentReason | I | 0..1 | CodeableConcept | Why the result is missing Binding: DataAbsentReason (extensible) |
| method | 0..1 | CodeableConcept | How it was done Binding: LOINC Answer List LL4048-6 (extensible) | |
| specimen | 0..1 | Reference(Genomic Specimen Profile) | Specimen used for this observation | |
| Slices for component | Σ | 0..* | BackboneElement | Component results Slice: Unordered, Open by pattern:code |
| component:All Slices | Content/Rules for all slices | |||
| code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. |
| value[x] | Σ | 0..1 | Actual component result | |
| valueQuantity | Quantity | |||
| valueCodeableConcept | CodeableConcept | |||
| valueString | string | |||
| valueBoolean | boolean | |||
| valueInteger | integer | |||
| valueRange | Range | |||
| valueRatio | Ratio | |||
| valueSampledData | SampledData | |||
| valueTime | time | |||
| valueDateTime | dateTime | |||
| valuePeriod | Period | |||
| component:geneStudied | Σ | 0..* | BackboneElement | Gene studied [ID] |
| code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48018-6 | |
| value[x] | Σ | 0..1 | CodeableConcept | Actual component result Binding: HUGO Gene Nomenclature Committee Gene Names Value Set (extensible) |
| component:variationCode | Σ | 0..1 | BackboneElement | Discrete Genomic variant |
| code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81252-9 | |
| value[x] | Σ | 0..1 | CodeableConcept | Actual component result Binding: ClinVar Value Set (preferred) |
| component:genomicDNAChange | Σ | 0..1 | BackboneElement | Genomic DNA change (gHGVS) |
| code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81290-9 | |
| value[x] | Σ | 0..1 | CodeableConcept | Actual component result Binding: Human Genome Variation Society Sequence Variant Nomenclature Value Set (required) |
| component:genomicDNAChangeType | Σ | 0..1 | BackboneElement | DNA Change Type |
| code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48019-4 | |
| value[x] | Σ | 0..1 | CodeableConcept | Actual component result Binding: DNA Change Type Value Set (extensible) |
| component:molecularConsequence | Σ | 0..1 | BackboneElement | Molecular consequence |
| code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/us/mcode/CodeSystem/loinc-requested-cs | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: molecular-consequence | |
| value[x] | Σ | 0..1 | CodeableConcept | Actual component result Binding: Genomic Molecular Consequence Value Set (extensible) |
| component:genomicSourceClass | Σ | 0..1 | BackboneElement | Genomic source class [Type] |
| code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48002-0 | |
| value[x] | Σ | 0..1 | CodeableConcept | Actual component result Binding: LOINC Answer List LL378-1 (required) |
| component:aminoAcidChange | Σ | 0..1 | BackboneElement | Amino acid change (pHGVS) |
| code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48005-3 | |
| value[x] | Σ | 0..1 | CodeableConcept | Actual component result Binding: Human Genome Variation Society Sequence Variant Nomenclature Value Set (required) |
| component:aminoAcidChangeType | Σ | 0..1 | BackboneElement | Amino acid change [Type] |
| code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48006-1 | |
| value[x] | Σ | 0..1 | CodeableConcept | Actual component result Binding: LOINC Answer List LL380-7 (required) |
| component:copyNumber | Σ | 0..1 | BackboneElement | Genomic structural variant copy number |
| code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 82155-3 | |
| value[x] | Σ | 0..1 | Quantity | Actual component result |
| component:sampleAllelicFrequency | Σ | 0..1 | BackboneElement | sample allelic frequency |
| code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81258-6 | |
| value[x] | Σ | 0..1 | Quantity | Actual component result |
| component:allelicState | Σ | 0..1 | BackboneElement | sample allelic frequency |
| code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 53034-5 | |
| value[x] | Σ | 0..1 | CodeableConcept | Actual component result Binding: LOINC Answer List LL381-5 (required) |
| component:cytogeneticLocation | Σ | 0..* | BackboneElement | Cytogenetic (chromosome) location |
| code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48001-2 | |
| value[x] | Σ | 0..1 | Actual component result | |
| valueQuantity | Quantity | |||
| valueCodeableConcept | CodeableConcept | |||
| valueString | string | |||
| valueBoolean | boolean | |||
| valueInteger | integer | |||
| valueRange | Range | |||
| valueRatio | Ratio | |||
| valueSampledData | SampledData | |||
| valueTime | time | |||
| valueDateTime | dateTime | |||
| valuePeriod | Period | |||
| component:cytogeneticNomenclature | Σ | 0..* | BackboneElement | Variant ISCN |
| code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81291-7 | |
| value[x] | Σ | 0..1 | Actual component result | |
| valueQuantity | Quantity | |||
| valueCodeableConcept | CodeableConcept | |||
| valueString | string | |||
| valueBoolean | boolean | |||
| valueInteger | integer | |||
| valueRange | Range | |||
| valueRatio | Ratio | |||
| valueSampledData | SampledData | |||
| valueTime | time | |||
| valueDateTime | dateTime | |||
| valuePeriod | Period | |||
| component:clinicalSignificance | Σ | 0..1 | BackboneElement | Genomic variation clinical significance [Imp] |
| code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 53037-8 | |
| value[x] | Σ | 0..1 | CodeableConcept | Actual component result Binding: LOINC Answer List LL4034-6 (required) |
| Documentation for this format | ||||
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:
Differential View
This structure is derived from USCoreLaboratoryResultObservationProfile
| Name | Flags | Card. | Type | Description & Constraints |
|---|---|---|---|---|
| Observation | 0..* | USCoreLaboratoryResultObservationProfile | Measurements and simple assertions | |
| code | 1..1 | CodeableConcept | Laboratory Test Name Required Pattern: At least the following | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 69548-6 | |
| value[x] | 0..1 | CodeableConcept | Whether the variant is present Binding: LOINC Answer List LL1971-2 (required) | |
| bodySite | 0..1 | CodeableConcept | Not used in this profile | |
| method | S | 0..1 | CodeableConcept | How it was done Binding: LOINC Answer List LL4048-6 (extensible) |
| specimen | S | 0..1 | Reference(Genomic Specimen Profile) | Specimen used for this observation |
| referenceRange | 0..* | BackboneElement | Not used in this profile | |
| hasMember | 0..* | Reference(Observation | QuestionnaireResponse | MolecularSequence) | Not used in this profile | |
| Slices for component | S | 0..* | BackboneElement | Component results Slice: Unordered, Open by pattern:code |
| component:All Slices | Content/Rules for all slices | |||
| code | S | 1..1 | CodeableConcept | Type of component observation (code / type) |
| value[x] | S | 0..1 | Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period | Actual component result |
| component:geneStudied | S | 0..* | BackboneElement | Gene studied [ID] |
| code | S | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48018-6 | |
| value[x] | S | 0..1 | CodeableConcept | Actual component result Binding: HUGO Gene Nomenclature Committee Gene Names Value Set (extensible) |
| component:variationCode | S | 0..1 | BackboneElement | Discrete Genomic variant |
| code | S | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81252-9 | |
| value[x] | S | 0..1 | CodeableConcept | Actual component result Binding: ClinVar Value Set (preferred) |
| component:genomicDNAChange | S | 0..1 | BackboneElement | Genomic DNA change (gHGVS) |
| code | S | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81290-9 | |
| value[x] | S | 0..1 | CodeableConcept | Actual component result Binding: Human Genome Variation Society Sequence Variant Nomenclature Value Set (required) |
| component:genomicDNAChangeType | S | 0..1 | BackboneElement | DNA Change Type |
| code | S | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48019-4 | |
| value[x] | S | 0..1 | CodeableConcept | Actual component result Binding: DNA Change Type Value Set (extensible) |
| component:molecularConsequence | S | 0..1 | BackboneElement | Molecular consequence |
| code | S | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/us/mcode/CodeSystem/loinc-requested-cs | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: molecular-consequence | |
| value[x] | S | 0..1 | CodeableConcept | Actual component result Binding: Genomic Molecular Consequence Value Set (extensible) |
| component:genomicSourceClass | S | 0..1 | BackboneElement | Genomic source class [Type] |
| code | S | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48002-0 | |
| value[x] | S | 0..1 | CodeableConcept | Actual component result Binding: LOINC Answer List LL378-1 (required) |
| component:aminoAcidChange | S | 0..1 | BackboneElement | Amino acid change (pHGVS) |
| code | S | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48005-3 | |
| value[x] | S | 0..1 | CodeableConcept | Actual component result Binding: Human Genome Variation Society Sequence Variant Nomenclature Value Set (required) |
| component:aminoAcidChangeType | S | 0..1 | BackboneElement | Amino acid change [Type] |
| code | S | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48006-1 | |
| value[x] | S | 0..1 | CodeableConcept | Actual component result Binding: LOINC Answer List LL380-7 (required) |
| component:copyNumber | S | 0..1 | BackboneElement | Genomic structural variant copy number |
| code | S | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 82155-3 | |
| value[x] | S | 0..1 | Quantity | Actual component result |
| component:sampleAllelicFrequency | S | 0..1 | BackboneElement | sample allelic frequency |
| code | S | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81258-6 | |
| value[x] | S | 0..1 | Quantity | Actual component result |
| component:allelicState | S | 0..1 | BackboneElement | sample allelic frequency |
| code | S | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 53034-5 | |
| value[x] | S | 0..1 | CodeableConcept | Actual component result Binding: LOINC Answer List LL381-5 (required) |
| component:cytogeneticLocation | S | 0..* | BackboneElement | Cytogenetic (chromosome) location |
| code | S | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48001-2 | |
| value[x] | S | 0..1 | Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period | Actual component result |
| component:cytogeneticNomenclature | S | 0..* | BackboneElement | Variant ISCN |
| code | S | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81291-7 | |
| value[x] | S | 0..1 | Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period | Actual component result |
| component:clinicalSignificance | S | 0..1 | BackboneElement | Genomic variation clinical significance [Imp] |
| code | S | 1..1 | CodeableConcept | Type of component observation (code / type) Required Pattern: At least the following |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 53037-8 | |
| value[x] | S | 0..1 | CodeableConcept | Actual component result Binding: LOINC Answer List LL4034-6 (required) |
| Documentation for this format | ||||
Snapshot View
| Name | Flags | Card. | Type | Description & Constraints |
|---|---|---|---|---|
| Observation | I | 0..* | USCoreLaboratoryResultObservationProfile | Measurements and simple assertions |
| id | Σ | 0..1 | string | Logical id of this artifact |
| meta | Σ | 0..1 | Meta | Metadata about the resource |
| implicitRules | ?!Σ | 0..1 | uri | A set of rules under which this content was created |
| language | 0..1 | code | Language of the resource content Binding: CommonLanguages (preferred) Max Binding: AllLanguages: A human language. | |
| text | 0..1 | Narrative | Text summary of the resource, for human interpretation | |
| contained | 0..* | Resource | Contained, inline Resources | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?! | 0..* | Extension | Extensions that cannot be ignored |
| identifier | Σ | 0..* | Identifier | Business Identifier for observation |
| basedOn | Σ | 0..* | Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) | Fulfills plan, proposal or order |
| partOf | Σ | 0..* | Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy) | Part of referenced event |
| status | ?!SΣ | 1..1 | code | registered | preliminary | final | amended + Binding: ObservationStatus (required) |
| Slices for category | S | 1..* | CodeableConcept | Classification of type of observation Slice: Unordered, Open by pattern:$this Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. |
| category:Laboratory | S | 1..1 | CodeableConcept | Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. Required Pattern: At least the following |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category | |
| version | 0..1 | string | Version of the system - if relevant | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: laboratory | |
| display | 0..1 | string | Representation defined by the system | |
| userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |
| text | 0..1 | string | Plain text representation of the concept | |
| code | SΣ | 1..1 | CodeableConcept | Laboratory Test Name Binding: LOINCCodes (extensible): LOINC codes Required Pattern: At least the following |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| version | 0..1 | string | Version of the system - if relevant | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 69548-6 | |
| display | 0..1 | string | Representation defined by the system | |
| userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |
| text | 0..1 | string | Plain text representation of the concept | |
| subject | SΣ | 1..1 | Reference(US Core Patient Profile) | Who and/or what the observation is about |
| focus | Σ | 0..* | Reference(Resource) | What the observation is about, when it is not about the subject of record |
| encounter | Σ | 0..1 | Reference(Encounter) | Healthcare event during which this observation is made |
| effective[x] | SΣI | 0..1 | Clinically relevant time/time-period for observation us-core-1: Datetime must be at least to day. | |
| effectiveDateTime | dateTime S | |||
| effectivePeriod | Period | |||
| effectiveTiming | Timing | |||
| effectiveInstant | instant | |||
| issued | Σ | 0..1 | instant | Date/Time this version was made available |
| performer | Σ | 0..* | Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson) | Who is responsible for the observation |
| value[x] | SΣI | 0..1 | CodeableConcept S | Whether the variant is present Binding: LOINC Answer List LL1971-2 (required) |
| dataAbsentReason | SI | 0..1 | CodeableConcept | Why the result is missing Binding: DataAbsentReason (extensible) |
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |
| note | 0..* | Annotation | Comments about the observation | |
| bodySite | 0..1 | CodeableConcept | Not used in this profile Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality. | |
| method | S | 0..1 | CodeableConcept | How it was done Binding: LOINC Answer List LL4048-6 (extensible) |
| specimen | S | 0..1 | Reference(Genomic Specimen Profile) | Specimen used for this observation |
| device | 0..1 | Reference(Device | DeviceMetric) | (Measurement) Device | |
| referenceRange | I | 0..* | BackboneElement | Not used in this profile |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| low | I | 0..1 | SimpleQuantity | Low Range, if relevant |
| high | I | 0..1 | SimpleQuantity | High Range, if relevant |
| type | 0..1 | CodeableConcept | Reference range qualifier Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range. | |
| appliesTo | 0..* | CodeableConcept | Reference range population Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to. | |
| age | 0..1 | Range | Applicable age range, if relevant | |
| text | 0..1 | string | Text based reference range in an observation | |
| hasMember | Σ | 0..* | Reference(Observation | QuestionnaireResponse | MolecularSequence) | Not used in this profile |
| derivedFrom | Σ | 0..* | Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) | Related measurements the observation is made from |
| Slices for component | SΣ | 0..* | BackboneElement | Component results Slice: Unordered, Open by pattern:code |
| component:All Slices | Content/Rules for all slices | |||
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code | SΣ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. |
| value[x] | SΣ | 0..1 | Actual component result | |
| valueQuantity | Quantity | |||
| valueCodeableConcept | CodeableConcept | |||
| valueString | string | |||
| valueBoolean | boolean | |||
| valueInteger | integer | |||
| valueRange | Range | |||
| valueRatio | Ratio | |||
| valueSampledData | SampledData | |||
| valueTime | time | |||
| valueDateTime | dateTime | |||
| valuePeriod | Period | |||
| dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. |
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |
| referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |
| component:geneStudied | SΣ | 0..* | BackboneElement | Gene studied [ID] |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code | SΣ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| version | 0..1 | string | Version of the system - if relevant | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48018-6 | |
| display | 0..1 | string | Representation defined by the system | |
| userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |
| text | 0..1 | string | Plain text representation of the concept | |
| value[x] | SΣ | 0..1 | CodeableConcept | Actual component result Binding: HUGO Gene Nomenclature Committee Gene Names Value Set (extensible) |
| dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. |
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |
| referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |
| component:variationCode | SΣ | 0..1 | BackboneElement | Discrete Genomic variant |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code | SΣ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| version | 0..1 | string | Version of the system - if relevant | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81252-9 | |
| display | 0..1 | string | Representation defined by the system | |
| userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |
| text | 0..1 | string | Plain text representation of the concept | |
| value[x] | SΣ | 0..1 | CodeableConcept | Actual component result Binding: ClinVar Value Set (preferred) |
| dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. |
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |
| referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |
| component:genomicDNAChange | SΣ | 0..1 | BackboneElement | Genomic DNA change (gHGVS) |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code | SΣ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| version | 0..1 | string | Version of the system - if relevant | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81290-9 | |
| display | 0..1 | string | Representation defined by the system | |
| userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |
| text | 0..1 | string | Plain text representation of the concept | |
| value[x] | SΣ | 0..1 | CodeableConcept | Actual component result Binding: Human Genome Variation Society Sequence Variant Nomenclature Value Set (required) |
| dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. |
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |
| referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |
| component:genomicDNAChangeType | SΣ | 0..1 | BackboneElement | DNA Change Type |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code | SΣ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| version | 0..1 | string | Version of the system - if relevant | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48019-4 | |
| display | 0..1 | string | Representation defined by the system | |
| userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |
| text | 0..1 | string | Plain text representation of the concept | |
| value[x] | SΣ | 0..1 | CodeableConcept | Actual component result Binding: DNA Change Type Value Set (extensible) |
| dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. |
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |
| referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |
| component:molecularConsequence | SΣ | 0..1 | BackboneElement | Molecular consequence |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code | SΣ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/us/mcode/CodeSystem/loinc-requested-cs | |
| version | 0..1 | string | Version of the system - if relevant | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: molecular-consequence | |
| display | 0..1 | string | Representation defined by the system | |
| userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |
| text | 0..1 | string | Plain text representation of the concept | |
| value[x] | SΣ | 0..1 | CodeableConcept | Actual component result Binding: Genomic Molecular Consequence Value Set (extensible) |
| dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. |
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |
| referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |
| component:genomicSourceClass | SΣ | 0..1 | BackboneElement | Genomic source class [Type] |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code | SΣ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| version | 0..1 | string | Version of the system - if relevant | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48002-0 | |
| display | 0..1 | string | Representation defined by the system | |
| userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |
| text | 0..1 | string | Plain text representation of the concept | |
| value[x] | SΣ | 0..1 | CodeableConcept | Actual component result Binding: LOINC Answer List LL378-1 (required) |
| dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. |
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |
| referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |
| component:aminoAcidChange | SΣ | 0..1 | BackboneElement | Amino acid change (pHGVS) |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code | SΣ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| version | 0..1 | string | Version of the system - if relevant | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48005-3 | |
| display | 0..1 | string | Representation defined by the system | |
| userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |
| text | 0..1 | string | Plain text representation of the concept | |
| value[x] | SΣ | 0..1 | CodeableConcept | Actual component result Binding: Human Genome Variation Society Sequence Variant Nomenclature Value Set (required) |
| dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. |
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |
| referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |
| component:aminoAcidChangeType | SΣ | 0..1 | BackboneElement | Amino acid change [Type] |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code | SΣ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| version | 0..1 | string | Version of the system - if relevant | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48006-1 | |
| display | 0..1 | string | Representation defined by the system | |
| userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |
| text | 0..1 | string | Plain text representation of the concept | |
| value[x] | SΣ | 0..1 | CodeableConcept | Actual component result Binding: LOINC Answer List LL380-7 (required) |
| dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. |
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |
| referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |
| component:copyNumber | SΣ | 0..1 | BackboneElement | Genomic structural variant copy number |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code | SΣ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| version | 0..1 | string | Version of the system - if relevant | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 82155-3 | |
| display | 0..1 | string | Representation defined by the system | |
| userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |
| text | 0..1 | string | Plain text representation of the concept | |
| value[x] | SΣ | 0..1 | Quantity | Actual component result |
| dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. |
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |
| referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |
| component:sampleAllelicFrequency | SΣ | 0..1 | BackboneElement | sample allelic frequency |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code | SΣ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| version | 0..1 | string | Version of the system - if relevant | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81258-6 | |
| display | 0..1 | string | Representation defined by the system | |
| userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |
| text | 0..1 | string | Plain text representation of the concept | |
| value[x] | SΣ | 0..1 | Quantity | Actual component result |
| dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. |
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |
| referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |
| component:allelicState | SΣ | 0..1 | BackboneElement | sample allelic frequency |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code | SΣ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| version | 0..1 | string | Version of the system - if relevant | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 53034-5 | |
| display | 0..1 | string | Representation defined by the system | |
| userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |
| text | 0..1 | string | Plain text representation of the concept | |
| value[x] | SΣ | 0..1 | CodeableConcept | Actual component result Binding: LOINC Answer List LL381-5 (required) |
| dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. |
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |
| referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |
| component:cytogeneticLocation | SΣ | 0..* | BackboneElement | Cytogenetic (chromosome) location |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code | SΣ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| version | 0..1 | string | Version of the system - if relevant | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48001-2 | |
| display | 0..1 | string | Representation defined by the system | |
| userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |
| text | 0..1 | string | Plain text representation of the concept | |
| value[x] | SΣ | 0..1 | Actual component result | |
| valueQuantity | Quantity | |||
| valueCodeableConcept | CodeableConcept | |||
| valueString | string | |||
| valueBoolean | boolean | |||
| valueInteger | integer | |||
| valueRange | Range | |||
| valueRatio | Ratio | |||
| valueSampledData | SampledData | |||
| valueTime | time | |||
| valueDateTime | dateTime | |||
| valuePeriod | Period | |||
| dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. |
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |
| referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |
| component:cytogeneticNomenclature | SΣ | 0..* | BackboneElement | Variant ISCN |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code | SΣ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| version | 0..1 | string | Version of the system - if relevant | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 81291-7 | |
| display | 0..1 | string | Representation defined by the system | |
| userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |
| text | 0..1 | string | Plain text representation of the concept | |
| value[x] | SΣ | 0..1 | Actual component result | |
| valueQuantity | Quantity | |||
| valueCodeableConcept | CodeableConcept | |||
| valueString | string | |||
| valueBoolean | boolean | |||
| valueInteger | integer | |||
| valueRange | Range | |||
| valueRatio | Ratio | |||
| valueSampledData | SampledData | |||
| valueTime | time | |||
| valueDateTime | dateTime | |||
| valuePeriod | Period | |||
| dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. |
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |
| referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |
| component:clinicalSignificance | SΣ | 0..1 | BackboneElement | Genomic variation clinical significance [Imp] |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
| code | SΣ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
| id | 0..1 | string | Unique id for inter-element referencing | |
| extension | 0..* | Extension | Additional content defined by implementations | |
| system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
| version | 0..1 | string | Version of the system - if relevant | |
| code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 53037-8 | |
| display | 0..1 | string | Representation defined by the system | |
| userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |
| text | 0..1 | string | Plain text representation of the concept | |
| value[x] | SΣ | 0..1 | CodeableConcept | Actual component result Binding: LOINC Answer List LL4034-6 (required) |
| dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. |
| interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |
| referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |
| Documentation for this format | ||||
Other representations of profile: CSV, Excel, Schematron
| Path | Conformance | ValueSet / Code |
| Observation.language | preferred | CommonLanguages Max Binding: AllLanguages |
| Observation.status | required | ObservationStatus |
| Observation.category | preferred | ObservationCategoryCodes |
| Observation.category:Laboratory | preferred | Pattern: laboratory |
| Observation.code | extensible | Pattern: LOINC code 69548-6 |
| Observation.value[x] | required | LOINC LL1971-2 |
| Observation.dataAbsentReason | extensible | DataAbsentReason |
| Observation.interpretation | extensible | ObservationInterpretationCodes |
| Observation.bodySite | example | SNOMEDCTBodyStructures |
| Observation.method | extensible | LOINC LL4048-6 |
| Observation.referenceRange.type | preferred | ObservationReferenceRangeMeaningCodes |
| Observation.referenceRange.appliesTo | example | ObservationReferenceRangeAppliesToCodes |
| Observation.component.code | example | LOINCCodes |
| Observation.component.dataAbsentReason | extensible | DataAbsentReason |
| Observation.component.interpretation | extensible | ObservationInterpretationCodes |
| Observation.component:geneStudied.code | example | Pattern: LOINC code 48018-6 |
| Observation.component:geneStudied.value[x] | extensible | HGNCVS |
| Observation.component:geneStudied.dataAbsentReason | extensible | DataAbsentReason |
| Observation.component:geneStudied.interpretation | extensible | ObservationInterpretationCodes |
| Observation.component:variationCode.code | example | Pattern: LOINC code 81252-9 |
| Observation.component:variationCode.value[x] | preferred | ClinVarVS |
| Observation.component:variationCode.dataAbsentReason | extensible | DataAbsentReason |
| Observation.component:variationCode.interpretation | extensible | ObservationInterpretationCodes |
| Observation.component:genomicDNAChange.code | example | Pattern: LOINC code 81290-9 |
| Observation.component:genomicDNAChange.value[x] | required | HGVSVS |
| Observation.component:genomicDNAChange.dataAbsentReason | extensible | DataAbsentReason |
| Observation.component:genomicDNAChange.interpretation | extensible | ObservationInterpretationCodes |
| Observation.component:genomicDNAChangeType.code | example | Pattern: LOINC code 48019-4 |
| Observation.component:genomicDNAChangeType.value[x] | extensible | DNAChangeTypeVS |
| Observation.component:genomicDNAChangeType.dataAbsentReason | extensible | DataAbsentReason |
| Observation.component:genomicDNAChangeType.interpretation | extensible | ObservationInterpretationCodes |
| Observation.component:molecularConsequence.code | example | Pattern: molecular-consequence |
| Observation.component:molecularConsequence.value[x] | extensible | GenomicMolecularConsequenceVS |
| Observation.component:molecularConsequence.dataAbsentReason | extensible | DataAbsentReason |
| Observation.component:molecularConsequence.interpretation | extensible | ObservationInterpretationCodes |
| Observation.component:genomicSourceClass.code | example | Pattern: LOINC code 48002-0 |
| Observation.component:genomicSourceClass.value[x] | required | LOINC LL378-1 |
| Observation.component:genomicSourceClass.dataAbsentReason | extensible | DataAbsentReason |
| Observation.component:genomicSourceClass.interpretation | extensible | ObservationInterpretationCodes |
| Observation.component:aminoAcidChange.code | example | Pattern: LOINC code 48005-3 |
| Observation.component:aminoAcidChange.value[x] | required | HGVSVS |
| Observation.component:aminoAcidChange.dataAbsentReason | extensible | DataAbsentReason |
| Observation.component:aminoAcidChange.interpretation | extensible | ObservationInterpretationCodes |
| Observation.component:aminoAcidChangeType.code | example | Pattern: LOINC code 48006-1 |
| Observation.component:aminoAcidChangeType.value[x] | required | LOINC LL380-7 |
| Observation.component:aminoAcidChangeType.dataAbsentReason | extensible | DataAbsentReason |
| Observation.component:aminoAcidChangeType.interpretation | extensible | ObservationInterpretationCodes |
| Observation.component:copyNumber.code | example | Pattern: LOINC code 82155-3 |
| Observation.component:copyNumber.dataAbsentReason | extensible | DataAbsentReason |
| Observation.component:copyNumber.interpretation | extensible | ObservationInterpretationCodes |
| Observation.component:sampleAllelicFrequency.code | example | Pattern: LOINC code 81258-6 |
| Observation.component:sampleAllelicFrequency.dataAbsentReason | extensible | DataAbsentReason |
| Observation.component:sampleAllelicFrequency.interpretation | extensible | ObservationInterpretationCodes |
| Observation.component:allelicState.code | example | Pattern: LOINC code 53034-5 |
| Observation.component:allelicState.value[x] | required | LOINC LL381-5 |
| Observation.component:allelicState.dataAbsentReason | extensible | DataAbsentReason |
| Observation.component:allelicState.interpretation | extensible | ObservationInterpretationCodes |
| Observation.component:cytogeneticLocation.code | example | Pattern: LOINC code 48001-2 |
| Observation.component:cytogeneticLocation.dataAbsentReason | extensible | DataAbsentReason |
| Observation.component:cytogeneticLocation.interpretation | extensible | ObservationInterpretationCodes |
| Observation.component:cytogeneticNomenclature.code | example | Pattern: LOINC code 81291-7 |
| Observation.component:cytogeneticNomenclature.dataAbsentReason | extensible | DataAbsentReason |
| Observation.component:cytogeneticNomenclature.interpretation | extensible | ObservationInterpretationCodes |
| Observation.component:clinicalSignificance.code | example | Pattern: LOINC code 53037-8 |
| Observation.component:clinicalSignificance.value[x] | required | LOINC LL4034-6 |
| Observation.component:clinicalSignificance.dataAbsentReason | extensible | DataAbsentReason |
| Observation.component:clinicalSignificance.interpretation | extensible | ObservationInterpretationCodes |
| Id | Grade | Path | Details | Requirements |
| us-core-1 | error | Observation.effective[x] | Datetime must be at least to day. : Observation.effectiveDateTime.exists() implies Observation.effectiveDateTime.toString().length() >= 8 |
IG © 2019+ HL7 International Clinical Interoperability Council. Package hl7.fhir.us.mcode#2.0.0 based on FHIR 4.0.1. Generated 2022-01-18
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