MII IG Kerndatensatz-Modul Molekulares Tumorboard
2026.0.0 - release Unknown region code '276'

MII IG Kerndatensatz-Modul Molekulares Tumorboard, published by Medizininformatik-Initiative. This guide is not an authorized publication; it is the continuous build for version 2026.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/medizininformatik-initiative/kerndatensatzmodul-molekulares-tumorboard/ and changes regularly. See the Directory of published versions

Resource Profile: MII PR MTB Ploidie

Official URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-ploidie Version: 2026.0.0
Active as of 2026-02-09 Computable Name: MII_PR_MTB_Ploidie

Beschreibt die Gesamtploidie des Tumors. Die Ploidie ist ein Indikator für die Tumorproliferation und die Tumoraggressivität.

Usages:

You can also check for usages in the FHIR IG Statistics

Formal Views of Profile Content

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

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Observation C 0..* MII_PR_MTB_Molekularer_Biomarker Measurements and simple assertions
Constraints: obs-7, obs-6
... meta SΣ 0..1 Meta Metadata about the resource
.... profile SΣ 0..* canonical(StructureDefinition) Profiles this resource claims to conform to
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
Slice: Unordered, Open by value:url
... Slices for category S 2..* CodeableConcept Kategorie
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..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
.... category:mbCategory 1..1 CodeableConcept Classification of type of observation
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
..... coding Σ 1..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://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: biomarker-category
...... display 0..1 string Representation defined by the system
...... userSelected 0..1 boolean If this coding was chosen directly by the user
.... category:geCategory 0..1 CodeableConcept Classification of type of observation
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
..... coding Σ 1..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/v2-0074
...... version 0..1 string Version of the system - if relevant
...... code 1..1 code Symbol in syntax defined by the system
Fixed Value: GE
...... display 0..1 string Representation defined by the system
...... userSelected 0..1 boolean If this coding was chosen directly by the user
... code SΣ 1..1 CodeableConcept Ploidie
Binding: MII VS Molekulare Biomarker (extensible)
.... Slices for coding Σ 1..* Coding Code defined by a terminology system
Slice: Unordered, Open by pattern:$this
..... coding:NCIT SΣ 1..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: https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem-ncit.html
...... version 0..1 string Version of the system - if relevant
...... code 1..1 code Symbol in syntax defined by the system
Fixed Value: C18303
...... display 1..1 string Representation defined by the system
Fixed Value: DNA Ploidy Analysis
...... userSelected 0..1 boolean If this coding was chosen directly by the user
... subject SΣC 0..1 Reference(Patient | Group) Patient
Constraints: ref-1
... focus SΣC 0..* Reference(MII PR Onkologie Diagnose Primärtumor | MII PR MTB Diagnose Primärtumor) What the observation is about, when it is not about the subject of record
Constraints: ref-1
... encounter SΣC 0..1 Reference(Encounter) Kontakt
Constraints: ref-1
... effective[x] SΣ 0..1 Zeitpunkt der Beobachtung
.... effectiveDateTime dateTime
.... effectivePeriod Period
.... effectiveTiming Timing
.... effectiveInstant instant
... issued SΣ 0..1 instant Freigabedatum
... Slices for value[x] SΣC 0..1 Actual result
Slice: Unordered, Open by type:$this
.... valueQuantity Quantity
.... valueCodeableConcept CodeableConcept
.... valueString string
.... valueBoolean boolean
.... valueInteger integer
.... valueRange Range
.... valueRatio Ratio
.... valueSampledData SampledData
.... valueTime time
.... valueDateTime dateTime
.... valuePeriod Period
.... value[x]:valueQuantity SΣC 0..1 Quantity Actual result
... dataAbsentReason C 0..1 CodeableConcept Why the result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
... interpretation S 0..* CodeableConcept ​High, low, normal, etc.
Binding: http://hl7.org/fhir/uv/genomics-reporting/ValueSet/high-low-codes-vs (required)
... Slices for derivedFrom SΣC 0..* Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) Abgeleitet von
Slice: Unordered, Open by profile:resolve()
Constraints: ref-1
.... derivedFrom:variant ΣC 0..* Reference(MII PR MolGen Variante) Variant the biomarker is derived from
Constraints: ref-1
.... derivedFrom:genotype ΣC 0..* Reference(Genotype) Genotype the biomarker is derived from
Constraints: ref-1
.... derivedFrom:haplotype ΣC 0..* Reference(Haplotype) Haplotype the biomarker is derived from
Constraints: ref-1
... Slices for component SΣ 0..* BackboneElement Komponenten
Slice: Unordered, Open by value: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.
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
.... component:gene-studied SΣ 0..* BackboneElement Untersuchtes Gen
..... 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: HUGO Gene Nomenclature Committee Gene Names (HGNC) (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.
.... component:biomarker-category SΣ 0..* BackboneElement Biomarker-Kategorie
..... 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.
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: biomarker-category
....... 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 cell receptor | antigen | protein | immune stain
Binding: Molecular Biomarker Categories (example)
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

doco 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:mbCategory 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 extensible MII VS Molekulare Biomarker 📦2026.0.0 This IG
Observation.dataAbsentReason Base extensible DataAbsentReason 📦4.0.1 FHIR Std.
Observation.interpretation Base required ​ http://hl7.org/fhir/uv/genomics-reporting/ValueSet/high-low-codes-vs Not State Unknown
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:gene-studied.​code Base example LOINC Codes 📦4.0.1 FHIR Std.
Observation.component:gene-studied.​value[x] 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:biomarker-category.​code Base example LOINC Codes 📦4.0.1 FHIR Std.
Observation.component:biomarker-category.​value[x] Base example 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.

Constraints

Id Grade Path(s) Description Expression
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()
ref-1 error Observation.subject, Observation.focus, Observation.encounter, Observation.derivedFrom, Observation.derivedFrom:variant, Observation.derivedFrom:genotype, Observation.derivedFrom:haplotype SHALL have a contained resource if a local reference is provided reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))

This structure is derived from MII_PR_MTB_Molekularer_Biomarker

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Observation 0..* MII_PR_MTB_Molekularer_Biomarker Measurements and simple assertions
... code 1..1 CodeableConcept Ploidie
.... Slices for coding 1..* Coding Code defined by a terminology system
Slice: Unordered, Open by pattern:$this
..... coding:NCIT S 1..1 Coding Code defined by a terminology system
Required Pattern: At least the following
...... system 1..1 uri Identity of the terminology system
Fixed Value: https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem-ncit.html
...... code 1..1 code Symbol in syntax defined by the system
Fixed Value: C18303
...... display 1..1 string Representation defined by the system
Fixed Value: DNA Ploidy Analysis
... Slices for value[x] S 0..1 Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period Actual result
Slice: Unordered, Open by type:$this
.... value[x]:valueQuantity S 0..1 Quantity Actual result
... interpretation S 0..* CodeableConcept ​High, low, normal, etc.
Binding: http://hl7.org/fhir/uv/genomics-reporting/ValueSet/high-low-codes-vs (required)

doco Documentation for this format

Terminology Bindings (Differential)

Path Status Usage ValueSet Version Source
Observation.interpretation Base required ​ http://hl7.org/fhir/uv/genomics-reporting/ValueSet/high-low-codes-vs Not State Unknown
NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Observation C 0..* MII_PR_MTB_Molekularer_Biomarker Measurements and simple assertions
Constraints: obs-7, obs-6
... id Σ 0..1 id Logical id of this artifact
... meta SΣ 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 SΣ 0..* canonical(StructureDefinition) Profiles this resource claims to conform to
.... security Σ 0..* Coding Security Labels applied to this resource
Binding: All Security Labels (extensible): Security Labels from the Healthcare Privacy and Security Classification System.
.... 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.
Additional BindingsPurpose
AllLanguages Max Binding
... 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
... contained 0..* Resource Contained, inline Resources
... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
Slice: Unordered, Open by value:url
... identifier Σ 0..* Identifier Business Identifier for observation
... basedOn ΣC 0..* Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) Fulfills plan, proposal or order
Constraints: ref-1
... partOf ΣC 0..* Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy) Part of referenced event
Constraints: ref-1
... status ?!Σ 1..1 code registered | preliminary | final | amended +
Binding: ObservationStatus (required): Codes providing the status of an observation.
... Slices for category S 2..* CodeableConcept Kategorie
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..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
.... category:mbCategory 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..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://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: biomarker-category
...... 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
.... category:geCategory 0..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..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/v2-0074
...... version 0..1 string Version of the system - if relevant
...... code 1..1 code Symbol in syntax defined by the system
Fixed Value: GE
...... 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 SΣ 1..1 CodeableConcept Ploidie
Binding: MII VS Molekulare Biomarker (extensible)
.... 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 pattern:$this
..... coding:NCIT SΣ 1..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: https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem-ncit.html
...... version 0..1 string Version of the system - if relevant
...... code 1..1 code Symbol in syntax defined by the system
Fixed Value: C18303
...... display 1..1 string Representation defined by the system
Fixed Value: DNA Ploidy Analysis
...... userSelected 0..1 boolean If this coding was chosen directly by the user
.... text Σ 0..1 string Plain text representation of the concept
... subject SΣC 0..1 Reference(Patient | Group) Patient
Constraints: ref-1
... focus SΣC 0..* Reference(MII PR Onkologie Diagnose Primärtumor | MII PR MTB Diagnose Primärtumor) What the observation is about, when it is not about the subject of record
Constraints: ref-1
... encounter SΣC 0..1 Reference(Encounter) Kontakt
Constraints: ref-1
... effective[x] SΣ 0..1 Zeitpunkt der Beobachtung
.... effectiveDateTime dateTime
.... effectivePeriod Period
.... effectiveTiming Timing
.... effectiveInstant instant
... issued SΣ 0..1 instant Freigabedatum
... performer ΣC 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson) Who is responsible for the observation
Constraints: ref-1
... Slices for value[x] SΣC 0..1 Actual result
Slice: Unordered, Open by type:$this
.... valueQuantity Quantity
.... valueCodeableConcept CodeableConcept
.... valueString string
.... valueBoolean boolean
.... valueInteger integer
.... valueRange Range
.... valueRatio Ratio
.... valueSampledData SampledData
.... valueTime time
.... valueDateTime dateTime
.... valuePeriod Period
.... value[x]:valueQuantity SΣC 0..1 Quantity Actual result
... dataAbsentReason C 0..1 CodeableConcept Why the result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
... interpretation S 0..* CodeableConcept ​High, low, normal, etc.
Binding: http://hl7.org/fhir/uv/genomics-reporting/ValueSet/high-low-codes-vs (required)
... note 0..* Annotation Comments about the observation
... 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 C 0..1 Reference(Specimen) Specimen used for this observation
Constraints: ref-1
... device C 0..1 Reference(Device | DeviceMetric) (Measurement) Device
Constraints: ref-1
... referenceRange C 0..* BackboneElement Provides guide for interpretation
Constraints: obs-3
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... low C 0..1 SimpleQuantity Low Range, if relevant
Constraints: qty-3, sqty-1
.... high C 0..1 SimpleQuantity High Range, if relevant
Constraints: qty-3, sqty-1
.... 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 C 0..1 Range Applicable age range, if relevant
Constraints: rng-2
.... text 0..1 string Text based reference range in an observation
... hasMember ΣC 0..* Reference(Observation | QuestionnaireResponse | MolecularSequence) Related resource that belongs to the Observation group
Constraints: ref-1
... Slices for derivedFrom SΣC 0..* Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) Abgeleitet von
Slice: Unordered, Open by profile:resolve()
Constraints: ref-1
.... derivedFrom:variant ΣC 0..* Reference(MII PR MolGen Variante) Variant the biomarker is derived from
Constraints: ref-1
.... derivedFrom:genotype ΣC 0..* Reference(Genotype) Genotype the biomarker is derived from
Constraints: ref-1
.... derivedFrom:haplotype ΣC 0..* Reference(Haplotype) Haplotype the biomarker is derived from
Constraints: ref-1
... Slices for component SΣ 0..* BackboneElement Komponenten
Slice: Unordered, Open by value: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
Slice: Unordered, Open by value:url
..... 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:gene-studied SΣ 0..* BackboneElement Untersuchtes Gen
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... 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: HUGO Gene Nomenclature Committee Gene Names (HGNC) (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
.... component:biomarker-category SΣ 0..* BackboneElement Biomarker-Kategorie
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... 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.
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: biomarker-category
....... 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 cell receptor | antigen | protein | immune stain
Binding: Molecular Biomarker Categories (example)
..... 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

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
Observation.meta.security Base extensible SecurityLabels 📍4.0.1 FHIR Std.
Observation.meta.tag Base example Common Tags 📍4.0.1 FHIR Std.
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:mbCategory 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 extensible MII VS Molekulare Biomarker 📦2026.0.0 This IG
Observation.dataAbsentReason Base extensible DataAbsentReason 📦4.0.1 FHIR Std.
Observation.interpretation Base required ​ http://hl7.org/fhir/uv/genomics-reporting/ValueSet/high-low-codes-vs Not State Unknown
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] 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] Base example 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

Id Grade Path(s) Description Expression
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()
qty-3 error Observation.referenceRange.low, Observation.referenceRange.high If a code for the unit is present, the system SHALL also be present code.empty() or system.exists()
ref-1 error Observation.basedOn, Observation.partOf, Observation.subject, Observation.focus, Observation.encounter, Observation.performer, Observation.specimen, Observation.device, Observation.hasMember, Observation.derivedFrom, Observation.derivedFrom:variant, Observation.derivedFrom:genotype, Observation.derivedFrom:haplotype SHALL have a contained resource if a local reference is provided reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))
rng-2 error Observation.referenceRange.age If present, low SHALL have a lower value than high low.empty() or high.empty() or (low <= high)
sqty-1 error Observation.referenceRange.low, Observation.referenceRange.high The comparator is not used on a SimpleQuantity comparator.empty()

This structure is derived from MII_PR_MTB_Molekularer_Biomarker

Summary

Mandatory: 2 elements
Must-Support: 4 elements

Slices

This structure defines the following Slices:

  • The element 1 is sliced based on the value of Observation.code.coding
  • The element 1 is sliced based on the value of Observation.value[x]

Key Elements View

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Observation C 0..* MII_PR_MTB_Molekularer_Biomarker Measurements and simple assertions
Constraints: obs-7, obs-6
... meta SΣ 0..1 Meta Metadata about the resource
.... profile SΣ 0..* canonical(StructureDefinition) Profiles this resource claims to conform to
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
Slice: Unordered, Open by value:url
... Slices for category S 2..* CodeableConcept Kategorie
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..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
.... category:mbCategory 1..1 CodeableConcept Classification of type of observation
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
..... coding Σ 1..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://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: biomarker-category
...... display 0..1 string Representation defined by the system
...... userSelected 0..1 boolean If this coding was chosen directly by the user
.... category:geCategory 0..1 CodeableConcept Classification of type of observation
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
..... coding Σ 1..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/v2-0074
...... version 0..1 string Version of the system - if relevant
...... code 1..1 code Symbol in syntax defined by the system
Fixed Value: GE
...... display 0..1 string Representation defined by the system
...... userSelected 0..1 boolean If this coding was chosen directly by the user
... code SΣ 1..1 CodeableConcept Ploidie
Binding: MII VS Molekulare Biomarker (extensible)
.... Slices for coding Σ 1..* Coding Code defined by a terminology system
Slice: Unordered, Open by pattern:$this
..... coding:NCIT SΣ 1..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: https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem-ncit.html
...... version 0..1 string Version of the system - if relevant
...... code 1..1 code Symbol in syntax defined by the system
Fixed Value: C18303
...... display 1..1 string Representation defined by the system
Fixed Value: DNA Ploidy Analysis
...... userSelected 0..1 boolean If this coding was chosen directly by the user
... subject SΣC 0..1 Reference(Patient | Group) Patient
Constraints: ref-1
... focus SΣC 0..* Reference(MII PR Onkologie Diagnose Primärtumor | MII PR MTB Diagnose Primärtumor) What the observation is about, when it is not about the subject of record
Constraints: ref-1
... encounter SΣC 0..1 Reference(Encounter) Kontakt
Constraints: ref-1
... effective[x] SΣ 0..1 Zeitpunkt der Beobachtung
.... effectiveDateTime dateTime
.... effectivePeriod Period
.... effectiveTiming Timing
.... effectiveInstant instant
... issued SΣ 0..1 instant Freigabedatum
... Slices for value[x] SΣC 0..1 Actual result
Slice: Unordered, Open by type:$this
.... valueQuantity Quantity
.... valueCodeableConcept CodeableConcept
.... valueString string
.... valueBoolean boolean
.... valueInteger integer
.... valueRange Range
.... valueRatio Ratio
.... valueSampledData SampledData
.... valueTime time
.... valueDateTime dateTime
.... valuePeriod Period
.... value[x]:valueQuantity SΣC 0..1 Quantity Actual result
... dataAbsentReason C 0..1 CodeableConcept Why the result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
... interpretation S 0..* CodeableConcept ​High, low, normal, etc.
Binding: http://hl7.org/fhir/uv/genomics-reporting/ValueSet/high-low-codes-vs (required)
... Slices for derivedFrom SΣC 0..* Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) Abgeleitet von
Slice: Unordered, Open by profile:resolve()
Constraints: ref-1
.... derivedFrom:variant ΣC 0..* Reference(MII PR MolGen Variante) Variant the biomarker is derived from
Constraints: ref-1
.... derivedFrom:genotype ΣC 0..* Reference(Genotype) Genotype the biomarker is derived from
Constraints: ref-1
.... derivedFrom:haplotype ΣC 0..* Reference(Haplotype) Haplotype the biomarker is derived from
Constraints: ref-1
... Slices for component SΣ 0..* BackboneElement Komponenten
Slice: Unordered, Open by value: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.
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
.... component:gene-studied SΣ 0..* BackboneElement Untersuchtes Gen
..... 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: HUGO Gene Nomenclature Committee Gene Names (HGNC) (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.
.... component:biomarker-category SΣ 0..* BackboneElement Biomarker-Kategorie
..... 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.
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: biomarker-category
....... 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 cell receptor | antigen | protein | immune stain
Binding: Molecular Biomarker Categories (example)
..... dataAbsentReason C 0..1 CodeableConcept Why the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

doco 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:mbCategory 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 extensible MII VS Molekulare Biomarker 📦2026.0.0 This IG
Observation.dataAbsentReason Base extensible DataAbsentReason 📦4.0.1 FHIR Std.
Observation.interpretation Base required ​ http://hl7.org/fhir/uv/genomics-reporting/ValueSet/high-low-codes-vs Not State Unknown
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:gene-studied.​code Base example LOINC Codes 📦4.0.1 FHIR Std.
Observation.component:gene-studied.​value[x] 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:biomarker-category.​code Base example LOINC Codes 📦4.0.1 FHIR Std.
Observation.component:biomarker-category.​value[x] Base example 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.

Constraints

Id Grade Path(s) Description Expression
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()
ref-1 error Observation.subject, Observation.focus, Observation.encounter, Observation.derivedFrom, Observation.derivedFrom:variant, Observation.derivedFrom:genotype, Observation.derivedFrom:haplotype SHALL have a contained resource if a local reference is provided reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))

Differential View

This structure is derived from MII_PR_MTB_Molekularer_Biomarker

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Observation 0..* MII_PR_MTB_Molekularer_Biomarker Measurements and simple assertions
... code 1..1 CodeableConcept Ploidie
.... Slices for coding 1..* Coding Code defined by a terminology system
Slice: Unordered, Open by pattern:$this
..... coding:NCIT S 1..1 Coding Code defined by a terminology system
Required Pattern: At least the following
...... system 1..1 uri Identity of the terminology system
Fixed Value: https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem-ncit.html
...... code 1..1 code Symbol in syntax defined by the system
Fixed Value: C18303
...... display 1..1 string Representation defined by the system
Fixed Value: DNA Ploidy Analysis
... Slices for value[x] S 0..1 Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period Actual result
Slice: Unordered, Open by type:$this
.... value[x]:valueQuantity S 0..1 Quantity Actual result
... interpretation S 0..* CodeableConcept ​High, low, normal, etc.
Binding: http://hl7.org/fhir/uv/genomics-reporting/ValueSet/high-low-codes-vs (required)

doco Documentation for this format

Terminology Bindings (Differential)

Path Status Usage ValueSet Version Source
Observation.interpretation Base required ​ http://hl7.org/fhir/uv/genomics-reporting/ValueSet/high-low-codes-vs Not State Unknown

Snapshot View

NameFlagsCard.TypeDescription & Constraints    Filter: Filtersdoco
.. Observation C 0..* MII_PR_MTB_Molekularer_Biomarker Measurements and simple assertions
Constraints: obs-7, obs-6
... id Σ 0..1 id Logical id of this artifact
... meta SΣ 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 SΣ 0..* canonical(StructureDefinition) Profiles this resource claims to conform to
.... security Σ 0..* Coding Security Labels applied to this resource
Binding: All Security Labels (extensible): Security Labels from the Healthcare Privacy and Security Classification System.
.... 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.
Additional BindingsPurpose
AllLanguages Max Binding
... 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
... contained 0..* Resource Contained, inline Resources
... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
Slice: Unordered, Open by value:url
... identifier Σ 0..* Identifier Business Identifier for observation
... basedOn ΣC 0..* Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) Fulfills plan, proposal or order
Constraints: ref-1
... partOf ΣC 0..* Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy) Part of referenced event
Constraints: ref-1
... status ?!Σ 1..1 code registered | preliminary | final | amended +
Binding: ObservationStatus (required): Codes providing the status of an observation.
... Slices for category S 2..* CodeableConcept Kategorie
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..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
.... category:mbCategory 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..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://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: biomarker-category
...... 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
.... category:geCategory 0..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..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/v2-0074
...... version 0..1 string Version of the system - if relevant
...... code 1..1 code Symbol in syntax defined by the system
Fixed Value: GE
...... 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 SΣ 1..1 CodeableConcept Ploidie
Binding: MII VS Molekulare Biomarker (extensible)
.... 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 pattern:$this
..... coding:NCIT SΣ 1..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: https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem-ncit.html
...... version 0..1 string Version of the system - if relevant
...... code 1..1 code Symbol in syntax defined by the system
Fixed Value: C18303
...... display 1..1 string Representation defined by the system
Fixed Value: DNA Ploidy Analysis
...... userSelected 0..1 boolean If this coding was chosen directly by the user
.... text Σ 0..1 string Plain text representation of the concept
... subject SΣC 0..1 Reference(Patient | Group) Patient
Constraints: ref-1
... focus SΣC 0..* Reference(MII PR Onkologie Diagnose Primärtumor | MII PR MTB Diagnose Primärtumor) What the observation is about, when it is not about the subject of record
Constraints: ref-1
... encounter SΣC 0..1 Reference(Encounter) Kontakt
Constraints: ref-1
... effective[x] SΣ 0..1 Zeitpunkt der Beobachtung
.... effectiveDateTime dateTime
.... effectivePeriod Period
.... effectiveTiming Timing
.... effectiveInstant instant
... issued SΣ 0..1 instant Freigabedatum
... performer ΣC 0..* Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson) Who is responsible for the observation
Constraints: ref-1
... Slices for value[x] SΣC 0..1 Actual result
Slice: Unordered, Open by type:$this
.... valueQuantity Quantity
.... valueCodeableConcept CodeableConcept
.... valueString string
.... valueBoolean boolean
.... valueInteger integer
.... valueRange Range
.... valueRatio Ratio
.... valueSampledData SampledData
.... valueTime time
.... valueDateTime dateTime
.... valuePeriod Period
.... value[x]:valueQuantity SΣC 0..1 Quantity Actual result
... dataAbsentReason C 0..1 CodeableConcept Why the result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.
... interpretation S 0..* CodeableConcept ​High, low, normal, etc.
Binding: http://hl7.org/fhir/uv/genomics-reporting/ValueSet/high-low-codes-vs (required)
... note 0..* Annotation Comments about the observation
... 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 C 0..1 Reference(Specimen) Specimen used for this observation
Constraints: ref-1
... device C 0..1 Reference(Device | DeviceMetric) (Measurement) Device
Constraints: ref-1
... referenceRange C 0..* BackboneElement Provides guide for interpretation
Constraints: obs-3
.... id 0..1 string Unique id for inter-element referencing
.... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
.... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
.... low C 0..1 SimpleQuantity Low Range, if relevant
Constraints: qty-3, sqty-1
.... high C 0..1 SimpleQuantity High Range, if relevant
Constraints: qty-3, sqty-1
.... 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 C 0..1 Range Applicable age range, if relevant
Constraints: rng-2
.... text 0..1 string Text based reference range in an observation
... hasMember ΣC 0..* Reference(Observation | QuestionnaireResponse | MolecularSequence) Related resource that belongs to the Observation group
Constraints: ref-1
... Slices for derivedFrom SΣC 0..* Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) Abgeleitet von
Slice: Unordered, Open by profile:resolve()
Constraints: ref-1
.... derivedFrom:variant ΣC 0..* Reference(MII PR MolGen Variante) Variant the biomarker is derived from
Constraints: ref-1
.... derivedFrom:genotype ΣC 0..* Reference(Genotype) Genotype the biomarker is derived from
Constraints: ref-1
.... derivedFrom:haplotype ΣC 0..* Reference(Haplotype) Haplotype the biomarker is derived from
Constraints: ref-1
... Slices for component SΣ 0..* BackboneElement Komponenten
Slice: Unordered, Open by value: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
Slice: Unordered, Open by value:url
..... 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:gene-studied SΣ 0..* BackboneElement Untersuchtes Gen
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... 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: HUGO Gene Nomenclature Committee Gene Names (HGNC) (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
.... component:biomarker-category SΣ 0..* BackboneElement Biomarker-Kategorie
..... id 0..1 string Unique id for inter-element referencing
..... extension 0..* Extension Additional content defined by implementations
Slice: Unordered, Open by value:url
..... 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.
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: biomarker-category
....... 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 cell receptor | antigen | protein | immune stain
Binding: Molecular Biomarker Categories (example)
..... 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

doco Documentation for this format

Terminology Bindings

Path Status Usage ValueSet Version Source
Observation.meta.security Base extensible SecurityLabels 📍4.0.1 FHIR Std.
Observation.meta.tag Base example Common Tags 📍4.0.1 FHIR Std.
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:mbCategory 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 extensible MII VS Molekulare Biomarker 📦2026.0.0 This IG
Observation.dataAbsentReason Base extensible DataAbsentReason 📦4.0.1 FHIR Std.
Observation.interpretation Base required ​ http://hl7.org/fhir/uv/genomics-reporting/ValueSet/high-low-codes-vs Not State Unknown
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] 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] Base example 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

Id Grade Path(s) Description Expression
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()
qty-3 error Observation.referenceRange.low, Observation.referenceRange.high If a code for the unit is present, the system SHALL also be present code.empty() or system.exists()
ref-1 error Observation.basedOn, Observation.partOf, Observation.subject, Observation.focus, Observation.encounter, Observation.performer, Observation.specimen, Observation.device, Observation.hasMember, Observation.derivedFrom, Observation.derivedFrom:variant, Observation.derivedFrom:genotype, Observation.derivedFrom:haplotype SHALL have a contained resource if a local reference is provided reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))
rng-2 error Observation.referenceRange.age If present, low SHALL have a lower value than high low.empty() or high.empty() or (low <= high)
sqty-1 error Observation.referenceRange.low, Observation.referenceRange.high The comparator is not used on a SimpleQuantity comparator.empty()

This structure is derived from MII_PR_MTB_Molekularer_Biomarker

Summary

Mandatory: 2 elements
Must-Support: 4 elements

Slices

This structure defines the following Slices:

  • The element 1 is sliced based on the value of Observation.code.coding
  • The element 1 is sliced based on the value of Observation.value[x]

 

Other representations of profile: CSV, Excel, Schematron