HLA Reporting Implementation Guide
0.0.1 - Draft
This page is part of the HLA Reporting Implementation Guide (v0.0.1: Trial Use: 1) based on FHIR R4. This is the current published version. For a full list of available versions, see the Directory of published versions
HLA Genotype profile of genotype observation
The official URL for this profile is:
http://fhir.nmdp.org/ig/hla-reporting/StructureDefinition/hla-genotype
Description of Profiles, Differentials, Snapshots and how the different presentations work.
This structure is derived from Genotype
Summary
Mandatory: 6 elements
Must-Support: 2 elements
Fixed Value: 1 element
Prohibited: 2 elements
Structures
This structure refers to these other structures:
Slices
This structure defines the following Slices:
This structure is derived from Genotype
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
Observation | 0..* | Genotype | Genotype | |
valueCodeableConcept | 1..1 | CodeableConcept | Genotype display name/code | |
coding | 1..* | (Slice Definition) | Code defined by a terminology system Slice: Unordered, Open by value:system | |
coding:GL | S | 1..1 | Coding | Code defined by a terminology system |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://glstring.org | |
code | I | 1..1 | code | Symbol in syntax defined by the system GLSC: Use GL String Code to report HLA genotype |
derivedFrom | 0..* | (Slice Definition) | Related measurements the observation is made from Slice: Unordered, Open by pattern:resolve().code | |
derivedFrom:hla-allele | 0..* | Reference(HLA Allele Observation) | Related measurements the observation is made from | |
derivedFrom:hla-sequence | 0..* | Reference(HLA Molecular Sequence) | Related measurements the observation is made from | |
component | 1..* | BackboneElement | Component results | |
component:gene-studied | S | 1..1 | BackboneElement | Gene studied ID |
value[x] | 1..1 | CodeableConcept | If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. Binding: HLA Gene Name Value Set (required) | |
component:cytogenetic-location | 0..0 | |||
component:ref-sequence-assembly | 0..0 | |||
Documentation for this format |
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
Observation | I | 0..* | Genotype | Genotype |
id | Σ | 0..1 | string | Logical id of this artifact |
meta | ΣI | 0..1 | Meta | Metadata about the resource |
implicitRules | ?!ΣI | 0..1 | uri | A set of rules under which this content was created |
language | I | 0..1 | code | Language of the resource content Binding: CommonLanguages (preferred) Max Binding: AllLanguages |
text | I | 0..1 | Narrative | Text summary of the resource, for human interpretation |
contained | 0..* | Resource | Contained, inline Resources | |
extension | I | 0..* | Extension | Extension Slice: Unordered, Open by value:url |
bodySite | I | 0..1 | Reference(BodyStructure) | Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite |
observation-secondaryFinding | I | 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: ObservationCategoryCodes (extensible) |
modifierExtension | ?!I | 0..* | Extension | Extensions that cannot be ignored |
identifier | ΣI | 0..* | Identifier | Business Identifier for observation |
basedOn | ΣI | 0..* | Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) | Fulfills plan, proposal or order |
partOf | ΣI | 0..* | Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy) | Part of referenced event |
status | ?!ΣI | 1..1 | code | registered | preliminary | final | amended + Binding: ObservationStatus (required) |
category | I | 1..* | CodeableConcept | Classification of type of observation Binding: ObservationCategoryCodes (preferred) 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 | ΣI | 1..1 | CodeableConcept | Type of observation (code / type) Binding: LOINCCodes (example) 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 | ΣI | 0..1 | Reference(Patient | Group | Location) | Who and/or what the observation is about |
focus | ΣI | 0..* | Reference(Resource) | What the observation is about, when it is not about the subject of record |
encounter | ΣI | 0..1 | Reference(Encounter) | Healthcare event during which this observation is made |
effective[x] | ΣI | 0..1 | (Slice Definition) | Clinically relevant time/time-period for observation Slice: Unordered, Closed by type:$this |
effective[x]:effectiveDateTime | ΣI | 0..1 | dateTime | Clinically relevant time/time-period for observation |
issued | ΣI | 0..1 | instant | Date/Time this version was made available |
performer | ΣI | 0..1 | Reference(Practitioner | Organization | Patient | RelatedPerson) | Who is responsible for the observation |
value[x] | ΣI | 0..1 | (Slice Definition) | Actual result Slice: Unordered, Closed by type:$this |
value[x]:valueCodeableConcept | ΣI | 1..1 | CodeableConcept | Genotype display name/code Binding: (unbound) (example) |
id | 0..1 | string | Unique id for inter-element referencing | |
extension | I | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url |
coding | ΣI | 1..* | (Slice Definition) | Code defined by a terminology system Slice: Unordered, Open by value:system |
coding:GL | SΣI | 1..1 | Coding | Code defined by a terminology system |
id | 0..1 | string | Unique id for inter-element referencing | |
extension | I | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url |
system | ΣI | 1..1 | uri | Identity of the terminology system Fixed Value: http://glstring.org |
version | ΣI | 0..1 | string | Version of the system - if relevant |
code | ΣI | 1..1 | code | Symbol in syntax defined by the system GLSC: Use GL String Code to report HLA genotype |
display | ΣI | 0..1 | string | Representation defined by the system |
userSelected | ΣI | 0..1 | boolean | If this coding was chosen directly by the user |
text | ΣI | 0..1 | string | Plain text representation of the concept |
dataAbsentReason | I | 0..1 | CodeableConcept | Why the result is missing Binding: DataAbsentReason (extensible) |
note | I | 0..* | Annotation | Comments about the observation |
bodySite | I | 0..1 | CodeableConcept | Observed body part Binding: SNOMEDCTBodyStructures (example) |
method | I | 0..1 | CodeableConcept | How it was done Binding: ObservationMethods (example) |
specimen | I | 0..1 | Reference(Specimen) | Specimen examined |
device | I | 0..1 | Reference(Device | DeviceMetric) | (Measurement) Device |
referenceRange | I | 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 | I | 0..* | Extension | Additional content defined by implementations |
modifierExtension | ?!ΣI | 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 | I | 0..1 | CodeableConcept | Reference range qualifier Binding: ObservationReferenceRangeMeaningCodes (preferred) |
appliesTo | I | 0..* | CodeableConcept | Reference range population Binding: ObservationReferenceRangeAppliesToCodes (example) |
age | I | 0..1 | Range | Applicable age range, if relevant |
text | I | 0..1 | string | Text based reference range in an observation |
hasMember | ΣI | 0..* | Reference(Observation | QuestionnaireResponse | MolecularSequence) | Related resource that belongs to the Observation group |
derivedFrom | ΣI | 0..* | (Slice Definition) | Related measurements the observation is made from Slice: Unordered, Open by pattern:resolve().code |
derivedFrom:haplotype | ΣI | 0..* | Reference(Haplotype) | Related measurements the observation is made from |
derivedFrom:variant | ΣI | 0..* | Reference(Variant) | Related measurements the observation is made from |
derivedFrom:hla-allele | ΣI | 0..* | Reference(HLA Allele Observation) | Related measurements the observation is made from |
derivedFrom:hla-sequence | ΣI | 0..* | Reference(HLA Molecular Sequence) | Related measurements the observation is made from |
component | ΣI | 1..* | (Slice Definition) | 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 | I | 0..* | Extension | Additional content defined by implementations |
modifierExtension | ?!ΣI | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
code | ΣI | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example) |
value[x] | ΣI | 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) |
referenceRange | I | 0..* | Unknown reference to #Observation.referenceRange Provides guide for interpretation of component result | |
component:gene-studied | SΣI | 1..1 | BackboneElement | Gene studied ID |
id | 0..1 | string | Unique id for inter-element referencing | |
extension | I | 0..* | Extension | Additional content defined by implementations |
modifierExtension | ?!ΣI | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
code | ΣI | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example) 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] | ΣI | 1..1 | CodeableConcept | If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. Binding: HLA Gene Name Value Set (required) |
dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible) |
referenceRange | I | 0..* | Unknown reference to #Observation.referenceRange Provides guide for interpretation of component result | |
Documentation for this format |
This structure is derived from Genotype
Summary
Mandatory: 6 elements
Must-Support: 2 elements
Fixed Value: 1 element
Prohibited: 2 elements
Structures
This structure refers to these other structures:
Slices
This structure defines the following Slices:
Differential View
This structure is derived from Genotype
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
Observation | 0..* | Genotype | Genotype | |
valueCodeableConcept | 1..1 | CodeableConcept | Genotype display name/code | |
coding | 1..* | (Slice Definition) | Code defined by a terminology system Slice: Unordered, Open by value:system | |
coding:GL | S | 1..1 | Coding | Code defined by a terminology system |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://glstring.org | |
code | I | 1..1 | code | Symbol in syntax defined by the system GLSC: Use GL String Code to report HLA genotype |
derivedFrom | 0..* | (Slice Definition) | Related measurements the observation is made from Slice: Unordered, Open by pattern:resolve().code | |
derivedFrom:hla-allele | 0..* | Reference(HLA Allele Observation) | Related measurements the observation is made from | |
derivedFrom:hla-sequence | 0..* | Reference(HLA Molecular Sequence) | Related measurements the observation is made from | |
component | 1..* | BackboneElement | Component results | |
component:gene-studied | S | 1..1 | BackboneElement | Gene studied ID |
value[x] | 1..1 | CodeableConcept | If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. Binding: HLA Gene Name Value Set (required) | |
component:cytogenetic-location | 0..0 | |||
component:ref-sequence-assembly | 0..0 | |||
Documentation for this format |
Snapshot View
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
Observation | I | 0..* | Genotype | Genotype |
id | Σ | 0..1 | string | Logical id of this artifact |
meta | ΣI | 0..1 | Meta | Metadata about the resource |
implicitRules | ?!ΣI | 0..1 | uri | A set of rules under which this content was created |
language | I | 0..1 | code | Language of the resource content Binding: CommonLanguages (preferred) Max Binding: AllLanguages |
text | I | 0..1 | Narrative | Text summary of the resource, for human interpretation |
contained | 0..* | Resource | Contained, inline Resources | |
extension | I | 0..* | Extension | Extension Slice: Unordered, Open by value:url |
bodySite | I | 0..1 | Reference(BodyStructure) | Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite |
observation-secondaryFinding | I | 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: ObservationCategoryCodes (extensible) |
modifierExtension | ?!I | 0..* | Extension | Extensions that cannot be ignored |
identifier | ΣI | 0..* | Identifier | Business Identifier for observation |
basedOn | ΣI | 0..* | Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) | Fulfills plan, proposal or order |
partOf | ΣI | 0..* | Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy) | Part of referenced event |
status | ?!ΣI | 1..1 | code | registered | preliminary | final | amended + Binding: ObservationStatus (required) |
category | I | 1..* | CodeableConcept | Classification of type of observation Binding: ObservationCategoryCodes (preferred) 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 | ΣI | 1..1 | CodeableConcept | Type of observation (code / type) Binding: LOINCCodes (example) 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 | ΣI | 0..1 | Reference(Patient | Group | Location) | Who and/or what the observation is about |
focus | ΣI | 0..* | Reference(Resource) | What the observation is about, when it is not about the subject of record |
encounter | ΣI | 0..1 | Reference(Encounter) | Healthcare event during which this observation is made |
effective[x] | ΣI | 0..1 | (Slice Definition) | Clinically relevant time/time-period for observation Slice: Unordered, Closed by type:$this |
effective[x]:effectiveDateTime | ΣI | 0..1 | dateTime | Clinically relevant time/time-period for observation |
issued | ΣI | 0..1 | instant | Date/Time this version was made available |
performer | ΣI | 0..1 | Reference(Practitioner | Organization | Patient | RelatedPerson) | Who is responsible for the observation |
value[x] | ΣI | 0..1 | (Slice Definition) | Actual result Slice: Unordered, Closed by type:$this |
value[x]:valueCodeableConcept | ΣI | 1..1 | CodeableConcept | Genotype display name/code Binding: (unbound) (example) |
id | 0..1 | string | Unique id for inter-element referencing | |
extension | I | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url |
coding | ΣI | 1..* | (Slice Definition) | Code defined by a terminology system Slice: Unordered, Open by value:system |
coding:GL | SΣI | 1..1 | Coding | Code defined by a terminology system |
id | 0..1 | string | Unique id for inter-element referencing | |
extension | I | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url |
system | ΣI | 1..1 | uri | Identity of the terminology system Fixed Value: http://glstring.org |
version | ΣI | 0..1 | string | Version of the system - if relevant |
code | ΣI | 1..1 | code | Symbol in syntax defined by the system GLSC: Use GL String Code to report HLA genotype |
display | ΣI | 0..1 | string | Representation defined by the system |
userSelected | ΣI | 0..1 | boolean | If this coding was chosen directly by the user |
text | ΣI | 0..1 | string | Plain text representation of the concept |
dataAbsentReason | I | 0..1 | CodeableConcept | Why the result is missing Binding: DataAbsentReason (extensible) |
note | I | 0..* | Annotation | Comments about the observation |
bodySite | I | 0..1 | CodeableConcept | Observed body part Binding: SNOMEDCTBodyStructures (example) |
method | I | 0..1 | CodeableConcept | How it was done Binding: ObservationMethods (example) |
specimen | I | 0..1 | Reference(Specimen) | Specimen examined |
device | I | 0..1 | Reference(Device | DeviceMetric) | (Measurement) Device |
referenceRange | I | 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 | I | 0..* | Extension | Additional content defined by implementations |
modifierExtension | ?!ΣI | 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 | I | 0..1 | CodeableConcept | Reference range qualifier Binding: ObservationReferenceRangeMeaningCodes (preferred) |
appliesTo | I | 0..* | CodeableConcept | Reference range population Binding: ObservationReferenceRangeAppliesToCodes (example) |
age | I | 0..1 | Range | Applicable age range, if relevant |
text | I | 0..1 | string | Text based reference range in an observation |
hasMember | ΣI | 0..* | Reference(Observation | QuestionnaireResponse | MolecularSequence) | Related resource that belongs to the Observation group |
derivedFrom | ΣI | 0..* | (Slice Definition) | Related measurements the observation is made from Slice: Unordered, Open by pattern:resolve().code |
derivedFrom:haplotype | ΣI | 0..* | Reference(Haplotype) | Related measurements the observation is made from |
derivedFrom:variant | ΣI | 0..* | Reference(Variant) | Related measurements the observation is made from |
derivedFrom:hla-allele | ΣI | 0..* | Reference(HLA Allele Observation) | Related measurements the observation is made from |
derivedFrom:hla-sequence | ΣI | 0..* | Reference(HLA Molecular Sequence) | Related measurements the observation is made from |
component | ΣI | 1..* | (Slice Definition) | 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 | I | 0..* | Extension | Additional content defined by implementations |
modifierExtension | ?!ΣI | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
code | ΣI | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example) |
value[x] | ΣI | 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) |
referenceRange | I | 0..* | Unknown reference to #Observation.referenceRange Provides guide for interpretation of component result | |
component:gene-studied | SΣI | 1..1 | BackboneElement | Gene studied ID |
id | 0..1 | string | Unique id for inter-element referencing | |
extension | I | 0..* | Extension | Additional content defined by implementations |
modifierExtension | ?!ΣI | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
code | ΣI | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example) 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] | ΣI | 1..1 | CodeableConcept | If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. Binding: HLA Gene Name Value Set (required) |
dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible) |
referenceRange | I | 0..* | Unknown reference to #Observation.referenceRange Provides guide for interpretation of component result | |
Documentation for this format |
Other representations of profile: Schematron
Path | Conformance | ValueSet / Code |
Observation.language | preferred | CommonLanguages Max Binding: AllLanguages |
Observation.status | required | ObservationStatus |
Observation.category | preferred | Pattern: laboratory |
Observation.code | example | Pattern: LOINC code 84413-4 |
Observation.value[x]:valueCodeableConcept | example | |
Observation.dataAbsentReason | extensible | DataAbsentReason |
Observation.bodySite | example | SNOMEDCTBodyStructures |
Observation.method | example | ObservationMethods |
Observation.referenceRange.type | preferred | ObservationReferenceRangeMeaningCodes |
Observation.referenceRange.appliesTo | example | ObservationReferenceRangeAppliesToCodes |
Observation.component.code | example | LOINCCodes |
Observation.component.dataAbsentReason | extensible | DataAbsentReason |
Observation.component:gene-studied.code | example | Pattern: LOINC code 48018-6 |
Observation.component:gene-studied.value[x] | required | HLAGeneIdVS |
Observation.component:gene-studied.dataAbsentReason | extensible | DataAbsentReason |
Observation.component:cytogenetic-location.code | example | Pattern: LOINC code 48001-2 |
Observation.component:cytogenetic-location.value[x] | example | |
Observation.component:cytogenetic-location.dataAbsentReason | extensible | DataAbsentReason |
Observation.component:ref-sequence-assembly.code | example | Pattern: LOINC code 62374-4 |
Observation.component:ref-sequence-assembly.value[x] | extensible | LOINC LL1040-6 |
Observation.component:ref-sequence-assembly.dataAbsentReason | extensible | DataAbsentReason |
Id | Path | Details | Requirements |
GLSC | Observation.value[x]:valueCodeableConcept.coding:GL.code | Use GL String Code to report HLA genotype : matches('^hla#.+') | |
obs-3 | Observation.referenceRange | Must have at least a low or a high or text : low.exists() or high.exists() or text.exists() |