- NHS North West Genomics v2.2.5

Language of the resource content
Binding: CommonLanguages (preferred): A human language.

Additional Bindings

Purpose

AllLanguages

Max Binding

Observation.text 0..1 Narrative Text summary of the resource, for human interpretation
This profile does not constrain the narrative in regard to content, language, or traceability to data elements

Observation.contained 0..* Resource Contained, inline Resources

Observation.extension 0..* Extension Additional content defined by implementations

Observation.modifierExtension This element is a modifier element. 0..* Extension Extensions that cannot be ignored

Observation.identifier This element is included in summaries. 0..* Identifier Business Identifier for observation

Observation.status This element is a modifier element. This element is included in summaries. 1..1 code registered | preliminary | final | amended +
Binding: ObservationStatus (required): Codes providing the status of an observation.

Observation.Slices for category 0..* CodeableConcept Classification of type of observation
Slice: Unordered, Open by value:coding
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.

Observation.Slices for category.category:labCategory 0..1 CodeableConcept Classification of type of observation
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.

Observation.Slices for category.category:labCategory.id 0..1 string Unique id for inter-element referencing

Observation.Slices for category.category:labCategory.extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url

1..1

Code defined by a terminology system

Required Pattern:

{
  "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
  "code" : "laboratory"
}

Observation.Slices for category.category:labCategory.text This element is included in summaries. 0..1 string Plain text representation of the concept

Observation.Slices for category.category:geCategory 0..1 CodeableConcept Classification of type of observation
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.

Observation.Slices for category.category:geCategory.id 0..1 string Unique id for inter-element referencing

Observation.Slices for category.category:geCategory.extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url

1..1

Code defined by a terminology system

Required Pattern:

{
  "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
  "code" : "GE"
}

Observation.Slices for category.category:geCategory.text This element is included in summaries. 0..1 string Plain text representation of the concept

Observation.code This element is included in summaries. 1..1 CodeableConcept Type of observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.

Observation.subject This element is included in summaries. 0..1 Reference(Patient | Group | Device | Location) Who and/or what the observation is about

Observation.focus This element is included in summaries. 0..* Reference(Resource) What the observation is about, when it is not about the subject of record

Observation.encounter This element is included in summaries. 0..1 Reference(Encounter) Healthcare event during which this observation is made

Observation.effective[x] This element is included in summaries. 0..1 Clinically relevant time/time-period for observation

Observation.effective[x].effectiveDateTime dateTime

Observation.effective[x].effectivePeriod Period

Observation.effective[x].effectiveTiming Timing

Observation.effective[x].effectiveInstant instant

Observation.issued This element is included in summaries. 0..1 instant Date/Time this version was made available

Observation.value[x] This element is included in summaries. C 0..1 Actual result

Observation.value[x].valueQuantity Quantity

Observation.value[x].valueCodeableConcept CodeableConcept

Observation.value[x].valueString string

Observation.value[x].valueBoolean boolean

Observation.value[x].valueInteger integer

Observation.value[x].valueRange Range

Observation.value[x].valueRatio Ratio

Observation.value[x].valueSampledData SampledData

Observation.value[x].valueTime time

Observation.value[x].valueDateTime dateTime

Observation.value[x].valuePeriod Period

Observation.dataAbsentReason C 0..1 CodeableConcept Why the result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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

Observation.note 0..* Annotation Comments about the observation

Observation.bodySite 0..1 CodeableConcept Observed body part
Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.

Observation.method 0..1 CodeableConcept How it was done
Binding: ObservationMethods (example): Methods for simple observations.

Observation.specimen 0..1 Reference(Specimen) Specimen used for this observation

Observation.device 0..1 Reference(Device | DeviceMetric) (Measurement) Device

Observation.referenceRange C 0..* BackboneElement Provides guide for interpretation
Constraints: obs-3

Observation.referenceRange.id 0..1 string Unique id for inter-element referencing

Observation.referenceRange.extension 0..* Extension Additional content defined by implementations

Observation.referenceRange.modifierExtension This element is a modifier element. This element is included in summaries. 0..* Extension Extensions that cannot be ignored even if unrecognized

Observation.referenceRange.low C 0..1 SimpleQuantity(4.0.1) Low Range, if relevant
Constraints: sqty-1

Observation.referenceRange.high C 0..1 SimpleQuantity(4.0.1) High Range, if relevant
Constraints: sqty-1

Observation.referenceRange.type 0..1 CodeableConcept Reference range qualifier
Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range.

Observation.referenceRange.appliesTo 0..* CodeableConcept Reference range population
Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to.

Observation.referenceRange.age 0..1 Range Applicable age range, if relevant

Observation.referenceRange.text 0..1 string Text based reference range in an observation

Observation.derivedFrom This element is included in summaries. 0..* Reference(Variant (Observation)) Related measurements the observation is made from

Observation.Slices for component This element is included in summaries. 0..* BackboneElement Component results
Slice: Unordered, Open by value:code

Observation.Slices for component.component:All Slices Content/Rules for all slices

Observation.Slices for component.component:All Slices.id 0..1 string Unique id for inter-element referencing

Observation.Slices for component.component:All Slices.extension 0..* Extension Additional content defined by implementations

Observation.Slices for component.component:All Slices.modifierExtension This element is a modifier element. This element is included in summaries. 0..* Extension Extensions that cannot be ignored even if unrecognized

Observation.Slices for component.component:All Slices.code This element is included in summaries. 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.

Observation.Slices for component.component:All Slices.value[x] This element is included in summaries. 0..1 Actual component result

Observation.Slices for component.component:All Slices.value[x].valueQuantity Quantity

Observation.Slices for component.component:All Slices.value[x].valueCodeableConcept CodeableConcept

Observation.Slices for component.component:All Slices.value[x].valueString string

Observation.Slices for component.component:All Slices.value[x].valueBoolean boolean

Observation.Slices for component.component:All Slices.value[x].valueInteger integer

Observation.Slices for component.component:All Slices.value[x].valueRange Range

Observation.Slices for component.component:All Slices.value[x].valueRatio Ratio

Observation.Slices for component.component:All Slices.value[x].valueSampledData SampledData

Observation.Slices for component.component:All Slices.value[x].valueTime time

Observation.Slices for component.component:All Slices.value[x].valueDateTime dateTime

Observation.Slices for component.component:All Slices.value[x].valuePeriod Period

Observation.Slices for component.component:All Slices.dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

Observation.Slices for component.component:All Slices.interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.

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

Observation.Slices for component.component:gene-studied This element is included in summaries. 0..* BackboneElement Gene Studied

Observation.Slices for component.component:gene-studied.id 0..1 string Unique id for inter-element referencing

Observation.Slices for component.component:gene-studied.extension 0..* Extension Additional content defined by implementations

Observation.Slices for component.component:gene-studied.modifierExtension This element is a modifier element. This element is included in summaries. 0..* Extension Extensions that cannot be ignored even if unrecognized

1..1

CodeableConcept

48018-6
Binding: LOINCCodes (example): Codes identifying names of simple observations.
Required Pattern:

{
  "coding" : [
    {
      "system" : "http://loinc.org",
      "code" : "48018-6"
    }
  ]
}

Observation.Slices for component.component:gene-studied.Slices for value[x] This element is included in summaries. 1..1 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.
Slice: Unordered, Closed by type:$this
Slicing Note: Other type slices that contain no new information are not shown in this view

Observation.Slices for component.component:gene-studied.Slices for value[x].valueQuantity Quantity

Observation.Slices for component.component:gene-studied.Slices for value[x].valueCodeableConcept CodeableConcept

Observation.Slices for component.component:gene-studied.Slices for value[x].valueString string

Observation.Slices for component.component:gene-studied.Slices for value[x].valueBoolean boolean

Observation.Slices for component.component:gene-studied.Slices for value[x].valueInteger integer

Observation.Slices for component.component:gene-studied.Slices for value[x].valueRange Range

Observation.Slices for component.component:gene-studied.Slices for value[x].valueRatio Ratio

Observation.Slices for component.component:gene-studied.Slices for value[x].valueSampledData SampledData

Observation.Slices for component.component:gene-studied.Slices for value[x].valueTime time

Observation.Slices for component.component:gene-studied.Slices for value[x].valueDateTime dateTime

Observation.Slices for component.component:gene-studied.Slices for value[x].valuePeriod Period

Observation.Slices for component.component:gene-studied.Slices for value[x] Content/Rules for all slices

Observation.Slices for component.component:gene-studied.Slices for value[x].value[x]:valueCodeableConcept This element is included in summaries. 0..1 CodeableConcept Actual component result
Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible)

Observation.Slices for component.component:gene-studied.dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

Observation.Slices for component.component:gene-studied.interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.

Observation.Slices for component.component:gene-studied.referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result

Observation.Slices for component.component:biomarker-category This element is included in summaries. 0..* BackboneElement Biomarker Category

Observation.Slices for component.component:biomarker-category.id 0..1 string Unique id for inter-element referencing

Observation.Slices for component.component:biomarker-category.extension 0..* Extension Additional content defined by implementations

Observation.Slices for component.component:biomarker-category.modifierExtension This element is a modifier element. This element is included in summaries. 0..* Extension Extensions that cannot be ignored even if unrecognized

Documentation for this format

1..1

CodeableConcept

Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.
Required Pattern:

{
  "coding" : [
    {
      "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
      "code" : "biomarker-category"
    }
  ]
}

Observation.Slices for component.component:biomarker-category.Slices for value[x] This element is included in summaries. 1..1 cell receptor | antigen | protein | immune stain
Slice: Unordered, Closed by type:$this
Slicing Note: Other type slices that contain no new information are not shown in this view

Observation.Slices for component.component:biomarker-category.Slices for value[x].valueQuantity Quantity

Observation.Slices for component.component:biomarker-category.Slices for value[x].valueCodeableConcept CodeableConcept

Observation.Slices for component.component:biomarker-category.Slices for value[x].valueString string

Observation.Slices for component.component:biomarker-category.Slices for value[x].valueBoolean boolean

Observation.Slices for component.component:biomarker-category.Slices for value[x].valueInteger integer

Observation.Slices for component.component:biomarker-category.Slices for value[x].valueRange Range

Observation.Slices for component.component:biomarker-category.Slices for value[x].valueRatio Ratio

Observation.Slices for component.component:biomarker-category.Slices for value[x].valueSampledData SampledData

Observation.Slices for component.component:biomarker-category.Slices for value[x].valueTime time

Observation.Slices for component.component:biomarker-category.Slices for value[x].valueDateTime dateTime

Observation.Slices for component.component:biomarker-category.Slices for value[x].valuePeriod Period

Observation.Slices for component.component:biomarker-category.Slices for value[x] Content/Rules for all slices

Observation.Slices for component.component:biomarker-category.Slices for value[x].value[x]:valueCodeableConcept This element is included in summaries. 0..1 CodeableConcept Actual component result
Binding: Molecular Biomarker Categories (preferred)

Observation.Slices for component.component:biomarker-category.dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

Observation.Slices for component.component:biomarker-category.interpretation 0..* CodeableConcept High, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.

Observation.Slices for component.component:biomarker-category.referenceRange 0..* See referenceRange (Observation) Provides guide for interpretation of component result

Terminology Bindings

Path	Status	Usage	ValueSet	Version	Source
Observation.language	Base	preferred	Common Languages	📍4.0.1	FHIR Std.
Observation.status	Base	required	ObservationStatus	📍4.0.1	FHIR Std.
Observation.category	Base	preferred	Observation Category Codes	📍4.0.1	FHIR Std.
Observation.category:labCategory	Base	preferred	Observation Category Codes	📍4.0.1	FHIR Std.
Observation.category:geCategory	Base	preferred	Observation Category Codes	📍4.0.1	FHIR Std.
Observation.code	Base	example	LOINC Codes	📍4.0.1	FHIR Std.
Observation.dataAbsentReason	Base	extensible	DataAbsentReason	📍4.0.1	FHIR Std.
Observation.interpretation	Base	extensible	Observation Interpretation Codes	📍4.0.1	FHIR Std.
Observation.bodySite	Base	example	SNOMED CT Body Structures	📍4.0.1	FHIR Std.
Observation.method	Base	example	Observation Methods	📍4.0.1	FHIR Std.
Observation.referenceRange.type	Base	preferred	Observation Reference Range Meaning Codes	📍4.0.1	FHIR Std.
Observation.referenceRange.appliesTo	Base	example	Observation Reference Range Applies To Codes	📍4.0.1	FHIR Std.
Observation.component.code	Base	example	LOINC Codes	📍4.0.1	FHIR Std.
Observation.component.dataAbsentReason	Base	extensible	DataAbsentReason	📍4.0.1	FHIR Std.
Observation.component.interpretation	Base	extensible	Observation Interpretation Codes	📍4.0.1	FHIR Std.
Observation.component:gene-studied.code	Base	example	LOINC Codes	📍4.0.1	FHIR Std.
Observation.component:gene-studied.value[x]:valueCodeableConcept	Base	extensible	HUGO Gene Nomenclature Committee Gene Names (HGNC)	📦3.0.0	Genomics Reporting Implementation Guide v3.0
Observation.component:gene-studied.dataAbsentReason	Base	extensible	DataAbsentReason	📍4.0.1	FHIR Std.
Observation.component:gene-studied.interpretation	Base	extensible	Observation Interpretation Codes	📍4.0.1	FHIR Std.
Observation.component:biomarker-category.code	Base	example	LOINC Codes	📍4.0.1	FHIR Std.
Observation.component:biomarker-category.value[x]:valueCodeableConcept	Base	preferred	Molecular Biomarker Categories	📦3.0.0	Genomics Reporting Implementation Guide v3.0
Observation.component:biomarker-category.dataAbsentReason	Base	extensible	DataAbsentReason	📍4.0.1	FHIR Std.
Observation.component:biomarker-category.interpretation	Base	extensible	Observation Interpretation Codes	📍4.0.1	FHIR Std.

Constraints

Grade

Path(s)

Description

Expression

This structure is derived from LaboratoryAnalyteResult

Summary

Mandatory: 0 element(2 nested mandatory elements)

Structures

This structure refers to these other structures:

Variant (Observation) (https://fhir.nwgenomics.nhs.uk/StructureDefinition/Variant)

Slices

This structure defines the following Slices:

The element 1 is sliced based on the value of Observation.component
The element 1 is sliced based on the value of Observation.component.value[x]

Key Elements View

Name	Flags	Card.	Type	Description & Constraints Filter: Bindings Constraints Obligations
Observation	C	0..*	LaboratoryAnalyteResult	Measurements and simple assertions Constraints: obs-6, obs-7
Observation.implicitRules	This element is a modifier element. This element is included in summaries.	0..1	uri	A set of rules under which this content was created
Observation.modifierExtension	This element is a modifier element.	0..*	Extension	Extensions that cannot be ignored
Observation.status	This element is a modifier element. This element is included in summaries.	1..1	code	registered \| preliminary \| final \| amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
Observation.Slices for category		0..*	CodeableConcept	Classification of type of observation Slice: Unordered, Open by value:coding Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
Observation.Slices for category.category:labCategory		0..1	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
Observation.Slices for category.category:labCategory.coding	This element is included in summaries.	1..1	Coding	Code defined by a terminology system Required Pattern: `{ "system" : "http://terminology.hl7.org/CodeSystem/observation-category", "code" : "laboratory" }`
Observation.Slices for category.category:geCategory		0..1	CodeableConcept	Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
Observation.Slices for category.category:geCategory.coding	This element is included in summaries.	1..1	Coding	Code defined by a terminology system Required Pattern: `{ "system" : "http://terminology.hl7.org/CodeSystem/v2-0074", "code" : "GE" }`
Observation.code	This element is included in summaries.	1..1	CodeableConcept	Type of observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
Observation.derivedFrom	This element is included in summaries.	0..*	Reference(Variant (Observation))	Related measurements the observation is made from
Observation.Slices for component	This element is included in summaries.	0..*	BackboneElement	Component results Slice: Unordered, Open by value:code
Observation.Slices for component.component:All Slices				Content/Rules for all slices
Observation.Slices for component.component:All Slices.modifierExtension	This element is a modifier element. This element is included in summaries.	0..*	Extension	Extensions that cannot be ignored even if unrecognized
Observation.Slices for component.component:All Slices.code	This element is included in summaries.	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations.
Observation.Slices for component.component:gene-studied	This element is included in summaries.	0..*	BackboneElement	Gene Studied
Observation.Slices for component.component:gene-studied.modifierExtension	This element is a modifier element. This element is included in summaries.	0..*	Extension	Extensions that cannot be ignored even if unrecognized
Observation.Slices for component.component:gene-studied.code	This element is included in summaries.	1..1	CodeableConcept	48018-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: `{ "coding" : [ { "system" : "http://loinc.org", "code" : "48018-6" } ] }`
Observation.Slices for component.component:gene-studied.Slices for value[x]	This element is included in summaries.	1..1		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. Slice: Unordered, Closed by type:$this Slicing Note: Other type slices that contain no new information are not shown in this view
Observation.Slices for component.component:gene-studied.Slices for value[x].valueQuantity			Quantity
Observation.Slices for component.component:gene-studied.Slices for value[x].valueCodeableConcept			CodeableConcept
Observation.Slices for component.component:gene-studied.Slices for value[x].valueString			string
Observation.Slices for component.component:gene-studied.Slices for value[x].valueBoolean			boolean
Observation.Slices for component.component:gene-studied.Slices for value[x].valueInteger			integer
Observation.Slices for component.component:gene-studied.Slices for value[x].valueRange			Range
Observation.Slices for component.component:gene-studied.Slices for value[x].valueRatio			Ratio
Observation.Slices for component.component:gene-studied.Slices for value[x].valueSampledData			SampledData
Observation.Slices for component.component:gene-studied.Slices for value[x].valueTime			time
Observation.Slices for component.component:gene-studied.Slices for value[x].valueDateTime			dateTime
Observation.Slices for component.component:gene-studied.Slices for value[x].valuePeriod			Period
Observation.Slices for component.component:gene-studied.Slices for value[x]				Content/Rules for all slices
Observation.Slices for component.component:gene-studied.Slices for value[x].value[x]:valueCodeableConcept	This element is included in summaries.	0..1	CodeableConcept	Actual component result Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible)
Observation.Slices for component.component:biomarker-category	This element is included in summaries.	0..*	BackboneElement	Biomarker Category
Observation.Slices for component.component:biomarker-category.modifierExtension	This element is a modifier element. This element is included in summaries.	0..*	Extension	Extensions that cannot be ignored even if unrecognized
Observation.Slices for component.component:biomarker-category.code	This element is included in summaries.	1..1	CodeableConcept	Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: `{ "coding" : [ { "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs", "code" : "biomarker-category" } ] }`
Observation.Slices for component.component:biomarker-category.Slices for value[x]	This element is included in summaries.	1..1		cell receptor \| antigen \| protein \| immune stain Slice: Unordered, Closed by type:$this Slicing Note: Other type slices that contain no new information are not shown in this view
Observation.Slices for component.component:biomarker-category.Slices for value[x].valueQuantity			Quantity
Observation.Slices for component.component:biomarker-category.Slices for value[x].valueCodeableConcept			CodeableConcept
Observation.Slices for component.component:biomarker-category.Slices for value[x].valueString			string
Observation.Slices for component.component:biomarker-category.Slices for value[x].valueBoolean			boolean
Observation.Slices for component.component:biomarker-category.Slices for value[x].valueInteger			integer
Observation.Slices for component.component:biomarker-category.Slices for value[x].valueRange			Range
Observation.Slices for component.component:biomarker-category.Slices for value[x].valueRatio			Ratio
Observation.Slices for component.component:biomarker-category.Slices for value[x].valueSampledData			SampledData
Observation.Slices for component.component:biomarker-category.Slices for value[x].valueTime			time
Observation.Slices for component.component:biomarker-category.Slices for value[x].valueDateTime			dateTime
Observation.Slices for component.component:biomarker-category.Slices for value[x].valuePeriod			Period
Observation.Slices for component.component:biomarker-category.Slices for value[x]				Content/Rules for all slices
Observation.Slices for component.component:biomarker-category.Slices for value[x].value[x]:valueCodeableConcept	This element is included in summaries.	0..1	CodeableConcept	Actual component result Binding: Molecular Biomarker Categories (preferred)
Documentation for this format

Terminology Bindings

Path	Status	Usage	ValueSet	Version	Source
Observation.status	Base	required	ObservationStatus	📍4.0.1	FHIR Std.
Observation.category	Base	preferred	Observation Category Codes	📍4.0.1	FHIR Std.
Observation.category:labCategory	Base	preferred	Observation Category Codes	📍4.0.1	FHIR Std.
Observation.category:geCategory	Base	preferred	Observation Category Codes	📍4.0.1	FHIR Std.
Observation.code	Base	example	LOINC Codes	📍4.0.1	FHIR Std.
Observation.component.code	Base	example	LOINC Codes	📍4.0.1	FHIR Std.
Observation.component:gene-studied.code	Base	example	LOINC Codes	📍4.0.1	FHIR Std.
Observation.component:gene-studied.value[x]:valueCodeableConcept	Base	extensible	HUGO Gene Nomenclature Committee Gene Names (HGNC)	📦3.0.0	Genomics Reporting Implementation Guide v3.0
Observation.component:biomarker-category.code	Base	example	LOINC Codes	📍4.0.1	FHIR Std.
Observation.component:biomarker-category.value[x]:valueCodeableConcept	Base	preferred	Molecular Biomarker Categories	📦3.0.0	Genomics Reporting Implementation Guide v3.0

Constraints

Grade

Path(s)

Description

Expression

Differential View

This structure is derived from LaboratoryAnalyteResult

Name	Card.	Type	Description & Constraints Filter: Bindings Constraints Obligations
Observation	0..*	LaboratoryAnalyteResult	Measurements and simple assertions
Observation.derivedFrom	0..*	Reference(Variant (Observation))	Related measurements the observation is made from
Observation.Slices for component	0..*	BackboneElement	Component results Slice: Unordered, Open by value:code
Observation.Slices for component.component:gene-studied	0..*	BackboneElement	Gene Studied
Observation.Slices for component.component:gene-studied.code	1..1	CodeableConcept	48018-6 Required Pattern: `{ "coding" : [ { "system" : "http://loinc.org", "code" : "48018-6" } ] }`
Observation.Slices for component.component:gene-studied.Slices for value[x]	1..1	Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period	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. Slice: Unordered, Open by type:$this Slicing Note: Other type slices that contain no new information are not shown in this view
Observation.Slices for component.component:gene-studied.Slices for value[x]			Content/Rules for all slices
Observation.Slices for component.component:gene-studied.Slices for value[x].value[x]:valueCodeableConcept	0..1	CodeableConcept	Actual component result Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible)
Observation.Slices for component.component:biomarker-category	0..*	BackboneElement	Biomarker Category
Observation.Slices for component.component:biomarker-category.code	1..1	CodeableConcept	Type of component observation (code / type) Required Pattern: `{ "coding" : [ { "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs", "code" : "biomarker-category" } ] }`
Observation.Slices for component.component:biomarker-category.Slices for value[x]	1..1	Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period	cell receptor \| antigen \| protein \| immune stain Slice: Unordered, Open by type:$this Slicing Note: Other type slices that contain no new information are not shown in this view
Observation.Slices for component.component:biomarker-category.Slices for value[x]			Content/Rules for all slices
Observation.Slices for component.component:biomarker-category.Slices for value[x].value[x]:valueCodeableConcept	0..1	CodeableConcept	Actual component result Binding: Molecular Biomarker Categories (preferred)
Documentation for this format

Terminology Bindings (Differential)

Path	Status	Usage	ValueSet	Version	Source
Observation.component:gene-studied.value[x]:valueCodeableConcept	Base	extensible	HUGO Gene Nomenclature Committee Gene Names (HGNC)	📦3.0.0	Genomics Reporting Implementation Guide v3.0
Observation.component:biomarker-category.value[x]:valueCodeableConcept	Base	preferred	Molecular Biomarker Categories	📦3.0.0	Genomics Reporting Implementation Guide v3.0

Snapshot ViewView

Description & Constraints Filter:

Observation C 0..* LaboratoryAnalyteResult Measurements and simple assertions
Constraints: obs-6, obs-7

Observation.id This element is included in summaries. 0..1 id Logical id of this artifact

Observation.meta This element is included in summaries. 0..1 Meta Metadata about the resource

Observation.implicitRules This element is a modifier element. This element is included in summaries. 0..1 uri A set of rules under which this content was created

language

0..1

Language of the resource content
Binding: CommonLanguages (preferred): A human language.

Additional Bindings

Purpose

AllLanguages

Max Binding

Observation.text 0..1 Narrative Text summary of the resource, for human interpretation
This profile does not constrain the narrative in regard to content, language, or traceability to data elements

Observation.contained 0..* Resource Contained, inline Resources

Observation.extension 0..* Extension Additional content defined by implementations

Observation.modifierExtension This element is a modifier element. 0..* Extension Extensions that cannot be ignored

Observation.identifier This element is included in summaries. 0..* Identifier Business Identifier for observation

Observation.Slices for category.category:labCategory.id 0..1 string Unique id for inter-element referencing

Observation.Slices for category.category:labCategory.extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url

1..1

Code defined by a terminology system

Required Pattern:

{
  "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
  "code" : "laboratory"
}

Observation.Slices for category.category:labCategory.text This element is included in summaries. 0..1 string Plain text representation of the concept

Observation.Slices for category.category:geCategory.id 0..1 string Unique id for inter-element referencing

Observation.Slices for category.category:geCategory.extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url

1..1