0.1.1 - ci-build
This page is part of the MatchSync Implementation Guide (v0.1.0: Release Draft) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions
Official URL: http://fhir.nmdp.org/ig/matchsync/StructureDefinition/hla-c | Version: 0.1.1 | |||
Draft as of 2024-11-11 | Computable Name: HLA_C |
Genotype for HLA-C
Usage:
Description of Profiles, Differentials, Snapshots and how the different presentations work.
This structure is derived from HLAGenotype
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
Observation | 0..* | HLAGenotype | Genotype | |
Slices for component | Content/Rules for all slices | |||
component:gene-studied | 1..* | BackboneElement | Gene Studied | |
value[x] | 1..1 | CodeableConcept | The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. 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://www.genenames.org/geneId | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: HGNC:4933 | |
display | 1..1 | string | Representation defined by the system Fixed Value: HLA-C | |
Documentation for this format |
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
Observation | C | 0..* | HLAGenotype | Genotype obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present |
meta | Σ | 0..1 | Meta | Metadata about the resource |
Slices for security | Σ | 1..* | Coding | Security Labels applied to this resource Slice: Unordered, Open by pattern:system Binding: All Security Labels (extensible): Security Labels from the Healthcare Privacy and Security Classification System. |
security:TransplantCenter | SΣ | 1..1 | Coding | Security Labels applied to this resource Binding: All Security Labels (extensible): Security Labels from the Healthcare Privacy and Security Classification System. |
system | Σ | 1..1 | uri | Identity of the terminology system Required Pattern: http://terminology.nmdp.org/codesystem/transplant-center |
code | Σ | 1..1 | code | Symbol in syntax defined by the system |
implicitRules | ?!Σ | 0..1 | uri | A set of rules under which this content was created |
Slices for extension | Content/Rules for all slices | |||
secondary-finding | 0..1 | CodeableConcept | Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement.
For more detail, please see:
https://ghr.nlm.nih.gov/primer/testing/secondaryfindings URL: http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding Binding: GeneticObservationSecondaryFindings (extensible): Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding. | |
body-structure | 0..1 | Reference(BodyStructure) | Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite | |
modifierExtension | ?! | 0..* | Extension | Extensions that cannot be ignored |
status | ?!Σ | 1..1 | code | registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation. |
Slices for category | 1..* | CodeableConcept | Classification of type of observation Slice: Unordered, Open by value:coding Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. | |
category:labCategory | 1..1 | CodeableConcept | Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. | |
coding | Σ | 1..* | Coding | Code defined by a terminology system Required Pattern: At least the following |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: laboratory | |
code | Σ | 1..1 | CodeableConcept | 84413-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 84413-4 | |
subject | SΣ | 1..1 | Reference(MSPatient) | Who and/or what the observation is about |
Slices for effective[x] | Σ | 1..1 | dateTime | Clinically relevant time/time-period for observation Slice: Unordered, Closed by type:$this |
effective[x]:effectiveDateTime | SΣ | 1..1 | dateTime | Clinically relevant time/time-period for observation |
value[x] | ΣC | 1..1 | CodeableConcept | Genotype name Binding Description (No ValueSet): (example): Binding not yet defined |
Slices for coding | Σ | 1..* | Coding | Code defined by a terminology system Slice: Unordered, Open by value:system |
coding:GL | SΣ | 1..1 | Coding | Code defined by a terminology system |
system | Σ | 1..1 | uri | Identity of the terminology system Fixed Value: http://glstring.org |
code | ΣC | 1..1 | code | Symbol in syntax defined by the system GLSC: Use GL String Code to report HLA genotype |
specimen | S | 1..1 | Reference(MSSpecimen) | Specimen used for this observation |
Slices for derivedFrom | Σ | 0..* | Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) | Related measurements the observation is made from Slice: Unordered, Open by profile:resolve() |
derivedFrom:Haplotype | Σ | 0..* | Reference(Haplotype) | Haplotype this genotype is derived from |
derivedFrom:Variant | Σ | 0..* | Reference(Variant) | Variant this genotype is derived from |
Slices for component | Σ | 1..* | BackboneElement | Component results Slice: Unordered, Open by pattern:code |
component:All Slices | Content/Rules for all slices | |||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. |
component:conclusion-string | Σ | 0..1 | BackboneElement | Clinical Conclusion |
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
code | Σ | 1..1 | CodeableConcept | conclusion-string Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: conclusion-string | |
component:gene-studied | SΣ | 1..* | BackboneElement | Gene Studied |
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
code | Σ | 1..1 | CodeableConcept | 48018-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48018-6 | |
value[x] | Σ | 1..1 | CodeableConcept | The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. Binding: HLA Gene Name Value Set (required) 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://www.genenames.org/geneId | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: HGNC:4933 | |
display | 1..1 | string | Representation defined by the system Fixed Value: HLA-C | |
component:cytogenetic-location | Σ | 0..* | BackboneElement | Cytogenetic (Chromosome) Location |
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
code | Σ | 1..1 | CodeableConcept | 48001-2 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48001-2 | |
value[x] | Σ | 1..1 | CodeableConcept | Example: 1q21.1 |
component:reference-sequence-assembly | Σ | 0..* | BackboneElement | Human Reference Sequence Assembly |
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
code | Σ | 1..1 | CodeableConcept | 62374-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 62374-4 | |
value[x] | Σ | 1..1 | CodeableConcept | GRCh37 | GRCh38 | ... Binding: LOINC Answer List LL1040-6 (extensible) |
Documentation for this format |
Path | Conformance | ValueSet / Code | URI |
Observation.meta.security | extensible | All Security Labelshttp://hl7.org/fhir/ValueSet/security-labels from the FHIR Standard | |
Observation.meta.security:TransplantCenter | extensible | All Security Labelshttp://hl7.org/fhir/ValueSet/security-labels from the FHIR Standard | |
Observation.status | required | ObservationStatushttp://hl7.org/fhir/ValueSet/observation-status|4.0.1 from the FHIR Standard | |
Observation.category | preferred | ObservationCategoryCodeshttp://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard | |
Observation.category:labCategory | preferred | ObservationCategoryCodeshttp://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard | |
Observation.code | example | Pattern: LOINC Code 84413-4http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.value[x] | example | ||
Observation.component.code | example | LOINCCodes (a valid code from LOINC)http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:conclusion-string.code | example | Pattern: conclusion-stringhttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:gene-studied.code | example | Pattern: LOINC Code 48018-6http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:gene-studied.value[x] | required | Pattern: HGNC:4933("HLA-C")http://fhir.nmdp.org/ig/matchsync/ValueSet/hla-geneid-valueset from this IG | |
Observation.component:cytogenetic-location.code | example | Pattern: LOINC Code 48001-2http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:reference-sequence-assembly.code | example | Pattern: LOINC Code 62374-4http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:reference-sequence-assembly.value[x] | extensible | LOINC LL1040-6http://loinc.org/vs/LL1040-6 |
Id | Grade | Path(s) | Details | Requirements |
GLSC | warning | Observation.value[x].coding:GL.code | Use GL String Code to report HLA genotype : matches('^hla#.+') | |
dom-2 | error | Observation | If the resource is contained in another resource, it SHALL NOT contain nested Resources : contained.contained.empty() | |
dom-3 | error | Observation | If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource : contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty() | |
dom-4 | error | Observation | If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated : contained.meta.versionId.empty() and contained.meta.lastUpdated.empty() | |
dom-5 | error | Observation | If a resource is contained in another resource, it SHALL NOT have a security label : contained.meta.security.empty() | |
dom-6 | best practice | Observation | A resource should have narrative for robust management : text.`div`.exists() | |
ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
obs-6 | error | Observation | dataAbsentReason SHALL only be present if Observation.value[x] is not present : dataAbsentReason.empty() or value.empty() | |
obs-7 | error | Observation | If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present : value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty() |
Name | Flags | Card. | Type | Description & Constraints | ||||
---|---|---|---|---|---|---|---|---|
Observation | C | 0..* | HLAGenotype | Genotype obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present | ||||
id | Σ | 0..1 | id | Logical id of this artifact | ||||
meta | Σ | 0..1 | Meta | Metadata about the resource | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |||||
versionId | Σ | 0..1 | id | Version specific identifier | ||||
lastUpdated | Σ | 0..1 | instant | When the resource version last changed | ||||
source | Σ | 0..1 | uri | Identifies where the resource comes from | ||||
profile | Σ | 0..* | canonical(StructureDefinition) | Profiles this resource claims to conform to | ||||
Slices for security | Σ | 1..* | Coding | Security Labels applied to this resource Slice: Unordered, Open by pattern:system Binding: All Security Labels (extensible): Security Labels from the Healthcare Privacy and Security Classification System. | ||||
security:TransplantCenter | SΣ | 1..1 | Coding | Security Labels applied to this resource Binding: All Security Labels (extensible): Security Labels from the Healthcare Privacy and Security Classification System. | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |||||
system | Σ | 1..1 | uri | Identity of the terminology system Required Pattern: http://terminology.nmdp.org/codesystem/transplant-center | ||||
version | Σ | 0..1 | string | Version of the system - if relevant | ||||
code | Σ | 1..1 | code | Symbol in syntax defined by the system | ||||
display | Σ | 0..1 | string | Representation defined by the system | ||||
userSelected | Σ | 0..1 | boolean | If this coding was chosen directly by the user | ||||
tag | Σ | 0..* | Coding | Tags applied to this resource Binding: CommonTags (example): Codes that represent various types of tags, commonly workflow-related; e.g. "Needs review by Dr. Jones". | ||||
implicitRules | ?!Σ | 0..1 | uri | A set of rules under which this content was created | ||||
language | 0..1 | code | Language of the resource content Binding: CommonLanguages (preferred): A human language.
| |||||
text | 0..1 | Narrative | Text summary of the resource, for human interpretation | |||||
contained | 0..* | Resource | Contained, inline Resources | |||||
Slices for extension | 0..* | Extension | Extension Slice: Unordered, Open by value:url | |||||
secondary-finding | 0..1 | CodeableConcept | Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement.
For more detail, please see:
https://ghr.nlm.nih.gov/primer/testing/secondaryfindings URL: http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding Binding: GeneticObservationSecondaryFindings (extensible): Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding. | |||||
body-structure | 0..1 | Reference(BodyStructure) | Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite | |||||
modifierExtension | ?! | 0..* | Extension | Extensions that cannot be ignored | ||||
identifier | Σ | 0..* | Identifier | Business Identifier for observation | ||||
basedOn | Σ | 0..* | Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) | Fulfills plan, proposal or order | ||||
partOf | Σ | 0..* | Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy) | Part of referenced event | ||||
status | ?!Σ | 1..1 | code | registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation. | ||||
Slices for category | 1..* | CodeableConcept | Classification of type of observation Slice: Unordered, Open by value:coding Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. | |||||
category:labCategory | 1..1 | CodeableConcept | Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |||||
coding | Σ | 1..* | Coding | Code defined by a terminology system Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: laboratory | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | Σ | 0..1 | string | Plain text representation of the concept | ||||
code | Σ | 1..1 | CodeableConcept | 84413-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 84413-4 | |||||
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 | |||||
subject | SΣ | 1..1 | Reference(MSPatient) | Who and/or what the observation is about | ||||
focus | Σ | 0..* | Reference(Resource) | What the observation is about, when it is not about the subject of record | ||||
encounter | Σ | 0..1 | Reference(Encounter) | Healthcare event during which this observation is made | ||||
Slices for effective[x] | Σ | 1..1 | dateTime | Clinically relevant time/time-period for observation Slice: Unordered, Closed by type:$this | ||||
effective[x]:effectiveDateTime | SΣ | 1..1 | dateTime | Clinically relevant time/time-period for observation | ||||
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] | ΣC | 1..1 | CodeableConcept | Genotype name Binding Description (No ValueSet): (example): Binding not yet defined | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |||||
Slices for coding | Σ | 1..* | Coding | Code defined by a terminology system Slice: Unordered, Open by value:system | ||||
coding:GL | SΣ | 1..1 | Coding | Code defined by a terminology system | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |||||
system | Σ | 1..1 | uri | Identity of the terminology system Fixed Value: http://glstring.org | ||||
version | Σ | 0..1 | string | Version of the system - if relevant | ||||
code | ΣC | 1..1 | code | Symbol in syntax defined by the system GLSC: Use GL String Code to report HLA genotype | ||||
display | Σ | 0..1 | string | Representation defined by the system | ||||
userSelected | Σ | 0..1 | boolean | If this coding was chosen directly by the user | ||||
text | Σ | 0..1 | string | Plain text representation of the concept | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
note | 0..* | CodedAnnotation | Comments about the Observation that also contain a coded type | |||||
bodySite | 0..1 | CodeableConcept | Observed body part Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality. | |||||
method | 0..1 | CodeableConcept | How it was done Binding: ObservationMethods (example): Methods for simple observations. | |||||
specimen | S | 1..1 | Reference(MSSpecimen) | Specimen used for this observation | ||||
device | 0..1 | Reference(Device | DeviceMetric) | (Measurement) Device | |||||
referenceRange | C | 0..* | BackboneElement | Provides guide for interpretation obs-3: Must have at least a low or a high or text | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
low | C | 0..1 | SimpleQuantity | Low Range, if relevant | ||||
high | C | 0..1 | SimpleQuantity | High Range, if relevant | ||||
type | 0..1 | CodeableConcept | Reference range qualifier Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range. | |||||
appliesTo | 0..* | CodeableConcept | Reference range population Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to. | |||||
age | 0..1 | Range | Applicable age range, if relevant | |||||
text | 0..1 | string | Text based reference range in an observation | |||||
hasMember | Σ | 0..* | Reference(Observation | QuestionnaireResponse | MolecularSequence) | Related resource that belongs to the Observation group | ||||
Slices for derivedFrom | Σ | 0..* | Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) | Related measurements the observation is made from Slice: Unordered, Open by profile:resolve() | ||||
derivedFrom:Haplotype | Σ | 0..* | Reference(Haplotype) | Haplotype this genotype is derived from | ||||
derivedFrom:Variant | Σ | 0..* | Reference(Variant) | Variant this genotype is derived from | ||||
Slices for component | Σ | 1..* | BackboneElement | Component results Slice: Unordered, Open by pattern:code | ||||
component:All Slices | Content/Rules for all slices | |||||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. | ||||
value[x] | Σ | 0..1 | Actual component result | |||||
valueQuantity | Quantity | |||||||
valueCodeableConcept | CodeableConcept | |||||||
valueString | string | |||||||
valueBoolean | boolean | |||||||
valueInteger | integer | |||||||
valueRange | Range | |||||||
valueRatio | Ratio | |||||||
valueSampledData | SampledData | |||||||
valueTime | time | |||||||
valueDateTime | dateTime | |||||||
valuePeriod | Period | |||||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:conclusion-string | Σ | 0..1 | BackboneElement | Clinical Conclusion | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | conclusion-string Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: conclusion-string | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 0..1 | string | Summary conclusion (interpretation/impression) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:gene-studied | SΣ | 1..* | BackboneElement | Gene Studied | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 48018-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48018-6 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. Binding: HLA Gene Name Value Set (required) 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://www.genenames.org/geneId | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: HGNC:4933 | |||||
display | 1..1 | string | Representation defined by the system Fixed Value: HLA-C | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:cytogenetic-location | Σ | 0..* | BackboneElement | Cytogenetic (Chromosome) Location | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 48001-2 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48001-2 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | Example: 1q21.1 | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:reference-sequence-assembly | Σ | 0..* | BackboneElement | Human Reference Sequence Assembly | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 62374-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 62374-4 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | GRCh37 | GRCh38 | ... Binding: LOINC Answer List LL1040-6 (extensible) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
Documentation for this format |
Path | Conformance | ValueSet / Code | URI | |||
Observation.meta.security | extensible | All Security Labelshttp://hl7.org/fhir/ValueSet/security-labels from the FHIR Standard | ||||
Observation.meta.security:TransplantCenter | extensible | All Security Labelshttp://hl7.org/fhir/ValueSet/security-labels from the FHIR Standard | ||||
Observation.meta.tag | example | CommonTagshttp://hl7.org/fhir/ValueSet/common-tags from the FHIR Standard | ||||
Observation.language | preferred | CommonLanguages
http://hl7.org/fhir/ValueSet/languages from the FHIR Standard | ||||
Observation.status | required | ObservationStatushttp://hl7.org/fhir/ValueSet/observation-status|4.0.1 from the FHIR Standard | ||||
Observation.category | preferred | ObservationCategoryCodeshttp://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard | ||||
Observation.category:labCategory | preferred | ObservationCategoryCodeshttp://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard | ||||
Observation.code | example | Pattern: LOINC Code 84413-4http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.value[x] | example | |||||
Observation.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.bodySite | example | SNOMEDCTBodyStructureshttp://hl7.org/fhir/ValueSet/body-site from the FHIR Standard | ||||
Observation.method | example | ObservationMethodshttp://hl7.org/fhir/ValueSet/observation-methods from the FHIR Standard | ||||
Observation.referenceRange.type | preferred | ObservationReferenceRangeMeaningCodeshttp://hl7.org/fhir/ValueSet/referencerange-meaning from the FHIR Standard | ||||
Observation.referenceRange.appliesTo | example | ObservationReferenceRangeAppliesToCodeshttp://hl7.org/fhir/ValueSet/referencerange-appliesto from the FHIR Standard | ||||
Observation.component.code | example | LOINCCodes (a valid code from LOINC)http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:conclusion-string.code | example | Pattern: conclusion-stringhttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:conclusion-string.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:conclusion-string.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:gene-studied.code | example | Pattern: LOINC Code 48018-6http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:gene-studied.value[x] | required | Pattern: HGNC:4933("HLA-C")http://fhir.nmdp.org/ig/matchsync/ValueSet/hla-geneid-valueset from this IG | ||||
Observation.component:gene-studied.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:gene-studied.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:cytogenetic-location.code | example | Pattern: LOINC Code 48001-2http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:cytogenetic-location.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:cytogenetic-location.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:reference-sequence-assembly.code | example | Pattern: LOINC Code 62374-4http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:reference-sequence-assembly.value[x] | extensible | LOINC LL1040-6http://loinc.org/vs/LL1040-6 | ||||
Observation.component:reference-sequence-assembly.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:reference-sequence-assembly.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard |
Id | Grade | Path(s) | Details | Requirements |
GLSC | warning | Observation.value[x].coding:GL.code | Use GL String Code to report HLA genotype : matches('^hla#.+') | |
dom-2 | error | Observation | If the resource is contained in another resource, it SHALL NOT contain nested Resources : contained.contained.empty() | |
dom-3 | error | Observation | If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource : contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty() | |
dom-4 | error | Observation | If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated : contained.meta.versionId.empty() and contained.meta.lastUpdated.empty() | |
dom-5 | error | Observation | If a resource is contained in another resource, it SHALL NOT have a security label : contained.meta.security.empty() | |
dom-6 | best practice | Observation | A resource should have narrative for robust management : text.`div`.exists() | |
ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
obs-3 | error | Observation.referenceRange | Must have at least a low or a high or text : low.exists() or high.exists() or text.exists() | |
obs-6 | error | Observation | dataAbsentReason SHALL only be present if Observation.value[x] is not present : dataAbsentReason.empty() or value.empty() | |
obs-7 | error | Observation | If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present : value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty() |
This structure is derived from HLAGenotype
Differential View
This structure is derived from HLAGenotype
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
Observation | 0..* | HLAGenotype | Genotype | |
Slices for component | Content/Rules for all slices | |||
component:gene-studied | 1..* | BackboneElement | Gene Studied | |
value[x] | 1..1 | CodeableConcept | The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. 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://www.genenames.org/geneId | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: HGNC:4933 | |
display | 1..1 | string | Representation defined by the system Fixed Value: HLA-C | |
Documentation for this format |
Key Elements View
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
Observation | C | 0..* | HLAGenotype | Genotype obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present |
meta | Σ | 0..1 | Meta | Metadata about the resource |
Slices for security | Σ | 1..* | Coding | Security Labels applied to this resource Slice: Unordered, Open by pattern:system Binding: All Security Labels (extensible): Security Labels from the Healthcare Privacy and Security Classification System. |
security:TransplantCenter | SΣ | 1..1 | Coding | Security Labels applied to this resource Binding: All Security Labels (extensible): Security Labels from the Healthcare Privacy and Security Classification System. |
system | Σ | 1..1 | uri | Identity of the terminology system Required Pattern: http://terminology.nmdp.org/codesystem/transplant-center |
code | Σ | 1..1 | code | Symbol in syntax defined by the system |
implicitRules | ?!Σ | 0..1 | uri | A set of rules under which this content was created |
Slices for extension | Content/Rules for all slices | |||
secondary-finding | 0..1 | CodeableConcept | Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement.
For more detail, please see:
https://ghr.nlm.nih.gov/primer/testing/secondaryfindings URL: http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding Binding: GeneticObservationSecondaryFindings (extensible): Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding. | |
body-structure | 0..1 | Reference(BodyStructure) | Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite | |
modifierExtension | ?! | 0..* | Extension | Extensions that cannot be ignored |
status | ?!Σ | 1..1 | code | registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation. |
Slices for category | 1..* | CodeableConcept | Classification of type of observation Slice: Unordered, Open by value:coding Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. | |
category:labCategory | 1..1 | CodeableConcept | Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. | |
coding | Σ | 1..* | Coding | Code defined by a terminology system Required Pattern: At least the following |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: laboratory | |
code | Σ | 1..1 | CodeableConcept | 84413-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 84413-4 | |
subject | SΣ | 1..1 | Reference(MSPatient) | Who and/or what the observation is about |
Slices for effective[x] | Σ | 1..1 | dateTime | Clinically relevant time/time-period for observation Slice: Unordered, Closed by type:$this |
effective[x]:effectiveDateTime | SΣ | 1..1 | dateTime | Clinically relevant time/time-period for observation |
value[x] | ΣC | 1..1 | CodeableConcept | Genotype name Binding Description (No ValueSet): (example): Binding not yet defined |
Slices for coding | Σ | 1..* | Coding | Code defined by a terminology system Slice: Unordered, Open by value:system |
coding:GL | SΣ | 1..1 | Coding | Code defined by a terminology system |
system | Σ | 1..1 | uri | Identity of the terminology system Fixed Value: http://glstring.org |
code | ΣC | 1..1 | code | Symbol in syntax defined by the system GLSC: Use GL String Code to report HLA genotype |
specimen | S | 1..1 | Reference(MSSpecimen) | Specimen used for this observation |
Slices for derivedFrom | Σ | 0..* | Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) | Related measurements the observation is made from Slice: Unordered, Open by profile:resolve() |
derivedFrom:Haplotype | Σ | 0..* | Reference(Haplotype) | Haplotype this genotype is derived from |
derivedFrom:Variant | Σ | 0..* | Reference(Variant) | Variant this genotype is derived from |
Slices for component | Σ | 1..* | BackboneElement | Component results Slice: Unordered, Open by pattern:code |
component:All Slices | Content/Rules for all slices | |||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. |
component:conclusion-string | Σ | 0..1 | BackboneElement | Clinical Conclusion |
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
code | Σ | 1..1 | CodeableConcept | conclusion-string Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: conclusion-string | |
component:gene-studied | SΣ | 1..* | BackboneElement | Gene Studied |
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
code | Σ | 1..1 | CodeableConcept | 48018-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48018-6 | |
value[x] | Σ | 1..1 | CodeableConcept | The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. Binding: HLA Gene Name Value Set (required) 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://www.genenames.org/geneId | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: HGNC:4933 | |
display | 1..1 | string | Representation defined by the system Fixed Value: HLA-C | |
component:cytogenetic-location | Σ | 0..* | BackboneElement | Cytogenetic (Chromosome) Location |
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
code | Σ | 1..1 | CodeableConcept | 48001-2 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48001-2 | |
value[x] | Σ | 1..1 | CodeableConcept | Example: 1q21.1 |
component:reference-sequence-assembly | Σ | 0..* | BackboneElement | Human Reference Sequence Assembly |
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
code | Σ | 1..1 | CodeableConcept | 62374-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 62374-4 | |
value[x] | Σ | 1..1 | CodeableConcept | GRCh37 | GRCh38 | ... Binding: LOINC Answer List LL1040-6 (extensible) |
Documentation for this format |
Path | Conformance | ValueSet / Code | URI |
Observation.meta.security | extensible | All Security Labelshttp://hl7.org/fhir/ValueSet/security-labels from the FHIR Standard | |
Observation.meta.security:TransplantCenter | extensible | All Security Labelshttp://hl7.org/fhir/ValueSet/security-labels from the FHIR Standard | |
Observation.status | required | ObservationStatushttp://hl7.org/fhir/ValueSet/observation-status|4.0.1 from the FHIR Standard | |
Observation.category | preferred | ObservationCategoryCodeshttp://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard | |
Observation.category:labCategory | preferred | ObservationCategoryCodeshttp://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard | |
Observation.code | example | Pattern: LOINC Code 84413-4http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.value[x] | example | ||
Observation.component.code | example | LOINCCodes (a valid code from LOINC)http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:conclusion-string.code | example | Pattern: conclusion-stringhttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:gene-studied.code | example | Pattern: LOINC Code 48018-6http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:gene-studied.value[x] | required | Pattern: HGNC:4933("HLA-C")http://fhir.nmdp.org/ig/matchsync/ValueSet/hla-geneid-valueset from this IG | |
Observation.component:cytogenetic-location.code | example | Pattern: LOINC Code 48001-2http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:reference-sequence-assembly.code | example | Pattern: LOINC Code 62374-4http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | |
Observation.component:reference-sequence-assembly.value[x] | extensible | LOINC LL1040-6http://loinc.org/vs/LL1040-6 |
Id | Grade | Path(s) | Details | Requirements |
GLSC | warning | Observation.value[x].coding:GL.code | Use GL String Code to report HLA genotype : matches('^hla#.+') | |
dom-2 | error | Observation | If the resource is contained in another resource, it SHALL NOT contain nested Resources : contained.contained.empty() | |
dom-3 | error | Observation | If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource : contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty() | |
dom-4 | error | Observation | If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated : contained.meta.versionId.empty() and contained.meta.lastUpdated.empty() | |
dom-5 | error | Observation | If a resource is contained in another resource, it SHALL NOT have a security label : contained.meta.security.empty() | |
dom-6 | best practice | Observation | A resource should have narrative for robust management : text.`div`.exists() | |
ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
obs-6 | error | Observation | dataAbsentReason SHALL only be present if Observation.value[x] is not present : dataAbsentReason.empty() or value.empty() | |
obs-7 | error | Observation | If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present : value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty() |
Snapshot View
Name | Flags | Card. | Type | Description & Constraints | ||||
---|---|---|---|---|---|---|---|---|
Observation | C | 0..* | HLAGenotype | Genotype obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present | ||||
id | Σ | 0..1 | id | Logical id of this artifact | ||||
meta | Σ | 0..1 | Meta | Metadata about the resource | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |||||
versionId | Σ | 0..1 | id | Version specific identifier | ||||
lastUpdated | Σ | 0..1 | instant | When the resource version last changed | ||||
source | Σ | 0..1 | uri | Identifies where the resource comes from | ||||
profile | Σ | 0..* | canonical(StructureDefinition) | Profiles this resource claims to conform to | ||||
Slices for security | Σ | 1..* | Coding | Security Labels applied to this resource Slice: Unordered, Open by pattern:system Binding: All Security Labels (extensible): Security Labels from the Healthcare Privacy and Security Classification System. | ||||
security:TransplantCenter | SΣ | 1..1 | Coding | Security Labels applied to this resource Binding: All Security Labels (extensible): Security Labels from the Healthcare Privacy and Security Classification System. | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |||||
system | Σ | 1..1 | uri | Identity of the terminology system Required Pattern: http://terminology.nmdp.org/codesystem/transplant-center | ||||
version | Σ | 0..1 | string | Version of the system - if relevant | ||||
code | Σ | 1..1 | code | Symbol in syntax defined by the system | ||||
display | Σ | 0..1 | string | Representation defined by the system | ||||
userSelected | Σ | 0..1 | boolean | If this coding was chosen directly by the user | ||||
tag | Σ | 0..* | Coding | Tags applied to this resource Binding: CommonTags (example): Codes that represent various types of tags, commonly workflow-related; e.g. "Needs review by Dr. Jones". | ||||
implicitRules | ?!Σ | 0..1 | uri | A set of rules under which this content was created | ||||
language | 0..1 | code | Language of the resource content Binding: CommonLanguages (preferred): A human language.
| |||||
text | 0..1 | Narrative | Text summary of the resource, for human interpretation | |||||
contained | 0..* | Resource | Contained, inline Resources | |||||
Slices for extension | 0..* | Extension | Extension Slice: Unordered, Open by value:url | |||||
secondary-finding | 0..1 | CodeableConcept | Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement.
For more detail, please see:
https://ghr.nlm.nih.gov/primer/testing/secondaryfindings URL: http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding Binding: GeneticObservationSecondaryFindings (extensible): Codes to denote a guideline or policy statement when a genetic test result is being shared as a secondary finding. | |||||
body-structure | 0..1 | Reference(BodyStructure) | Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite | |||||
modifierExtension | ?! | 0..* | Extension | Extensions that cannot be ignored | ||||
identifier | Σ | 0..* | Identifier | Business Identifier for observation | ||||
basedOn | Σ | 0..* | Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) | Fulfills plan, proposal or order | ||||
partOf | Σ | 0..* | Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy) | Part of referenced event | ||||
status | ?!Σ | 1..1 | code | registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation. | ||||
Slices for category | 1..* | CodeableConcept | Classification of type of observation Slice: Unordered, Open by value:coding Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. | |||||
category:labCategory | 1..1 | CodeableConcept | Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |||||
coding | Σ | 1..* | Coding | Code defined by a terminology system Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: laboratory | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | Σ | 0..1 | string | Plain text representation of the concept | ||||
code | Σ | 1..1 | CodeableConcept | 84413-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 84413-4 | |||||
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 | |||||
subject | SΣ | 1..1 | Reference(MSPatient) | Who and/or what the observation is about | ||||
focus | Σ | 0..* | Reference(Resource) | What the observation is about, when it is not about the subject of record | ||||
encounter | Σ | 0..1 | Reference(Encounter) | Healthcare event during which this observation is made | ||||
Slices for effective[x] | Σ | 1..1 | dateTime | Clinically relevant time/time-period for observation Slice: Unordered, Closed by type:$this | ||||
effective[x]:effectiveDateTime | SΣ | 1..1 | dateTime | Clinically relevant time/time-period for observation | ||||
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] | ΣC | 1..1 | CodeableConcept | Genotype name Binding Description (No ValueSet): (example): Binding not yet defined | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |||||
Slices for coding | Σ | 1..* | Coding | Code defined by a terminology system Slice: Unordered, Open by value:system | ||||
coding:GL | SΣ | 1..1 | Coding | Code defined by a terminology system | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |||||
system | Σ | 1..1 | uri | Identity of the terminology system Fixed Value: http://glstring.org | ||||
version | Σ | 0..1 | string | Version of the system - if relevant | ||||
code | ΣC | 1..1 | code | Symbol in syntax defined by the system GLSC: Use GL String Code to report HLA genotype | ||||
display | Σ | 0..1 | string | Representation defined by the system | ||||
userSelected | Σ | 0..1 | boolean | If this coding was chosen directly by the user | ||||
text | Σ | 0..1 | string | Plain text representation of the concept | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
note | 0..* | CodedAnnotation | Comments about the Observation that also contain a coded type | |||||
bodySite | 0..1 | CodeableConcept | Observed body part Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality. | |||||
method | 0..1 | CodeableConcept | How it was done Binding: ObservationMethods (example): Methods for simple observations. | |||||
specimen | S | 1..1 | Reference(MSSpecimen) | Specimen used for this observation | ||||
device | 0..1 | Reference(Device | DeviceMetric) | (Measurement) Device | |||||
referenceRange | C | 0..* | BackboneElement | Provides guide for interpretation obs-3: Must have at least a low or a high or text | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
low | C | 0..1 | SimpleQuantity | Low Range, if relevant | ||||
high | C | 0..1 | SimpleQuantity | High Range, if relevant | ||||
type | 0..1 | CodeableConcept | Reference range qualifier Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range. | |||||
appliesTo | 0..* | CodeableConcept | Reference range population Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to. | |||||
age | 0..1 | Range | Applicable age range, if relevant | |||||
text | 0..1 | string | Text based reference range in an observation | |||||
hasMember | Σ | 0..* | Reference(Observation | QuestionnaireResponse | MolecularSequence) | Related resource that belongs to the Observation group | ||||
Slices for derivedFrom | Σ | 0..* | Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) | Related measurements the observation is made from Slice: Unordered, Open by profile:resolve() | ||||
derivedFrom:Haplotype | Σ | 0..* | Reference(Haplotype) | Haplotype this genotype is derived from | ||||
derivedFrom:Variant | Σ | 0..* | Reference(Variant) | Variant this genotype is derived from | ||||
Slices for component | Σ | 1..* | BackboneElement | Component results Slice: Unordered, Open by pattern:code | ||||
component:All Slices | Content/Rules for all slices | |||||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. | ||||
value[x] | Σ | 0..1 | Actual component result | |||||
valueQuantity | Quantity | |||||||
valueCodeableConcept | CodeableConcept | |||||||
valueString | string | |||||||
valueBoolean | boolean | |||||||
valueInteger | integer | |||||||
valueRange | Range | |||||||
valueRatio | Ratio | |||||||
valueSampledData | SampledData | |||||||
valueTime | time | |||||||
valueDateTime | dateTime | |||||||
valuePeriod | Period | |||||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:conclusion-string | Σ | 0..1 | BackboneElement | Clinical Conclusion | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | conclusion-string Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: conclusion-string | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 0..1 | string | Summary conclusion (interpretation/impression) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:gene-studied | SΣ | 1..* | BackboneElement | Gene Studied | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 48018-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48018-6 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. Binding: HLA Gene Name Value Set (required) 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://www.genenames.org/geneId | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: HGNC:4933 | |||||
display | 1..1 | string | Representation defined by the system Fixed Value: HLA-C | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:cytogenetic-location | Σ | 0..* | BackboneElement | Cytogenetic (Chromosome) Location | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 48001-2 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48001-2 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | Example: 1q21.1 | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:reference-sequence-assembly | Σ | 0..* | BackboneElement | Human Reference Sequence Assembly | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 62374-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 62374-4 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | GRCh37 | GRCh38 | ... Binding: LOINC Answer List LL1040-6 (extensible) | ||||
dataAbsentReason | C | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
Documentation for this format |
Path | Conformance | ValueSet / Code | URI | |||
Observation.meta.security | extensible | All Security Labelshttp://hl7.org/fhir/ValueSet/security-labels from the FHIR Standard | ||||
Observation.meta.security:TransplantCenter | extensible | All Security Labelshttp://hl7.org/fhir/ValueSet/security-labels from the FHIR Standard | ||||
Observation.meta.tag | example | CommonTagshttp://hl7.org/fhir/ValueSet/common-tags from the FHIR Standard | ||||
Observation.language | preferred | CommonLanguages
http://hl7.org/fhir/ValueSet/languages from the FHIR Standard | ||||
Observation.status | required | ObservationStatushttp://hl7.org/fhir/ValueSet/observation-status|4.0.1 from the FHIR Standard | ||||
Observation.category | preferred | ObservationCategoryCodeshttp://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard | ||||
Observation.category:labCategory | preferred | ObservationCategoryCodeshttp://hl7.org/fhir/ValueSet/observation-category from the FHIR Standard | ||||
Observation.code | example | Pattern: LOINC Code 84413-4http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.value[x] | example | |||||
Observation.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.bodySite | example | SNOMEDCTBodyStructureshttp://hl7.org/fhir/ValueSet/body-site from the FHIR Standard | ||||
Observation.method | example | ObservationMethodshttp://hl7.org/fhir/ValueSet/observation-methods from the FHIR Standard | ||||
Observation.referenceRange.type | preferred | ObservationReferenceRangeMeaningCodeshttp://hl7.org/fhir/ValueSet/referencerange-meaning from the FHIR Standard | ||||
Observation.referenceRange.appliesTo | example | ObservationReferenceRangeAppliesToCodeshttp://hl7.org/fhir/ValueSet/referencerange-appliesto from the FHIR Standard | ||||
Observation.component.code | example | LOINCCodes (a valid code from LOINC)http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:conclusion-string.code | example | Pattern: conclusion-stringhttp://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:conclusion-string.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:conclusion-string.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:gene-studied.code | example | Pattern: LOINC Code 48018-6http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:gene-studied.value[x] | required | Pattern: HGNC:4933("HLA-C")http://fhir.nmdp.org/ig/matchsync/ValueSet/hla-geneid-valueset from this IG | ||||
Observation.component:gene-studied.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:gene-studied.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:cytogenetic-location.code | example | Pattern: LOINC Code 48001-2http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:cytogenetic-location.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:cytogenetic-location.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard | ||||
Observation.component:reference-sequence-assembly.code | example | Pattern: LOINC Code 62374-4http://hl7.org/fhir/ValueSet/observation-codes from the FHIR Standard | ||||
Observation.component:reference-sequence-assembly.value[x] | extensible | LOINC LL1040-6http://loinc.org/vs/LL1040-6 | ||||
Observation.component:reference-sequence-assembly.dataAbsentReason | extensible | DataAbsentReasonhttp://hl7.org/fhir/ValueSet/data-absent-reason from the FHIR Standard | ||||
Observation.component:reference-sequence-assembly.interpretation | extensible | ObservationInterpretationCodeshttp://hl7.org/fhir/ValueSet/observation-interpretation from the FHIR Standard |
Id | Grade | Path(s) | Details | Requirements |
GLSC | warning | Observation.value[x].coding:GL.code | Use GL String Code to report HLA genotype : matches('^hla#.+') | |
dom-2 | error | Observation | If the resource is contained in another resource, it SHALL NOT contain nested Resources : contained.contained.empty() | |
dom-3 | error | Observation | If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource : contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty() | |
dom-4 | error | Observation | If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated : contained.meta.versionId.empty() and contained.meta.lastUpdated.empty() | |
dom-5 | error | Observation | If a resource is contained in another resource, it SHALL NOT have a security label : contained.meta.security.empty() | |
dom-6 | best practice | Observation | A resource should have narrative for robust management : text.`div`.exists() | |
ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
obs-3 | error | Observation.referenceRange | Must have at least a low or a high or text : low.exists() or high.exists() or text.exists() | |
obs-6 | error | Observation | dataAbsentReason SHALL only be present if Observation.value[x] is not present : dataAbsentReason.empty() or value.empty() | |
obs-7 | error | Observation | If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present : value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty() |
This structure is derived from HLAGenotype
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