MII-Initiative

MII IG Molekulares Tumorboard DE v2025

HRD-Score: Observation


Inhalt

Dieses Profil beschreibt den HRD-Score. Der Wert (value) ist die Summe aus drei spezifisch beobachtbaren und bioinformatoisch berechenbaren Phänomenen:

  • Loss of Heterzygocity (LOH)
  • Telomeric Allele Instability (TAI)
  • Large-Scale State Transitions (LST) Die Summe der Einzelbeobachtungen ergibt dann den HRD-Wert. Interpretation dieses Wertes soll aus der Wertemenge {low, intermediate, high} sein. Mithilfe des HRD-Scores kann man durch Nachweis von Genomschäden abschätzen, ob der Tumor eine homologe Rekombinationsdefizienz (HRD) aufweist, was wiederum auf eine therapeutische Wirksamkeit von PARP-Inhibitoren hinweisen kann.

Verknüpfungen zu anderen Ressourcen


Zeitliche Zuordnung im Verlauf

NameStatusVersionCanonicalBasis
MII_PR_MTB_HRD_Scoredraft2024.0.0-ballothttps://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-hrd-scorehttps://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-molekularer-biomarker

Inhalt

idΣ0..1string
id0..1string
extensionI0..*Extension
versionIdΣ0..1id
lastUpdatedΣ0..1instant
sourceΣ0..1uri
profileS Σ0..*canonical(StructureDefinition)
securityΣ0..*CodingBinding
tagΣ0..*Coding
implicitRulesΣ ?!0..1uri
language0..1codeBinding
text0..1Narrative
contained0..*Resource
extensionI0..*Extension
modifierExtension?! I0..*Extension
identifierS Σ0..*Identifier
basedOnΣ0..*Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest)
partOfΣ0..*Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy)
statusΣ ?!1..1codeBinding
id0..1string
extensionI0..*Extension
codingΣ1..1CodingPattern
textΣ0..1string
id0..1string
extensionI0..*Extension
codingΣ1..1CodingPattern
textΣ0..1string
id0..1string
extensionI0..*Extension
codingΣ1..1CodingPattern
textΣ0..1string
codeΣ1..1CodeableConceptBindingPattern
subjectS Σ1..1Reference(Patient | Group)
focusS Σ0..*Reference(MII_PR_Onko_Diagnose_Primaertumor | MII_PR_MTB_Diagnose_Primaertumor)
encounterS Σ0..1Reference(Encounter)
effectiveDateTimedateTime
effectivePeriodPeriod
effectiveTimingTiming
effectiveInstantinstant
issuedΣ0..1instant
performerΣ0..*Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson)
valueIntegerinteger
dataAbsentReasonI0..1CodeableConceptBinding
interpretationS0..*CodeableConceptBinding
note0..*Annotation
bodySite0..1CodeableConcept
method0..1CodeableConcept
specimenS0..1Reference(Specimen)
device0..1Reference(Device | DeviceMetric)
id0..1string
extensionI0..*Extension
modifierExtensionΣ ?! I0..*Extension
lowI0..1SimpleQuantity
highI0..1SimpleQuantity
type0..1CodeableConceptBinding
appliesTo0..*CodeableConcept
age0..1Range
text0..1string
hasMemberΣ0..*Reference(Observation | QuestionnaireResponse | MolecularSequence)
variantΣ0..*Reference(Variant)
genotypeΣ0..*Reference(Genotype)
haplotypeΣ0..*Reference(Haplotype)
id0..1string
extensionI0..*Extension
modifierExtensionΣ ?! I0..*Extension
codeΣ1..1CodeableConcept
valueQuantityQuantity
valueCodeableConceptCodeableConcept
valueStringstring
valueBooleanboolean
valueIntegerinteger
valueRangeRange
valueRatioRatio
valueSampledDataSampledData
valueTimetime
valueDateTimedateTime
valuePeriodPeriod
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
id0..1string
extensionI0..*Extension
modifierExtensionΣ ?! I0..*Extension
id0..1string
extensionI0..*Extension
codingΣ0..*CodingPattern
textΣ0..1string
valueQuantityQuantity
valueStringstring
valueBooleanboolean
valueIntegerinteger
valueRangeRange
valueRatioRatio
valueSampledDataSampledData
valueTimetime
valueDateTimedateTime
valuePeriodPeriod
valueCodeableConceptΣ0..1CodeableConceptBinding
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
id0..1string
extensionI0..*Extension
modifierExtensionΣ ?! I0..*Extension
codeΣ1..1CodeableConceptPattern
valueCodeableConceptCodeableConcept
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
id0..1string
extensionI0..*Extension
modifierExtensionΣ ?! I0..*Extension
codeΣ1..1CodeableConceptPattern
valueIntegerinteger
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
id0..1string
extensionI0..*Extension
modifierExtensionΣ ?! I0..*Extension
codeΣ1..1CodeableConceptPattern
valueIntegerinteger
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)
id0..1string
extensionI0..*Extension
modifierExtensionΣ ?! I0..*Extension
codeΣ1..1CodeableConceptPattern
valueIntegerinteger
dataAbsentReasonI0..1CodeableConceptBinding
interpretation0..*CodeableConceptBinding
referenceRange0..*see (referenceRange)

Der HRD-Score, welcher den Grad der homologen Rekombinationsdefizienz bei Zellen beschreibt.

FeldnameKurzbeschreibung
Observation.identifier
Observation.category
Observation.subject
Observation.encounter
Observation.value[x]HRD-Score
Observation.interpretation
Observation.specimen
Observation.component:LOHLoss of heterozygosity
Observation.component:LOH.value[x]
Observation.component:TAITelomeric allelic imbalance
Observation.component:TAI.value[x]
Observation.component:LSTLarge-scale state transitions
Observation.component:LST.value[x]
<StructureDefinition xmlns="http://hl7.org/fhir">
    <id value="mii-pr-mtb-hrd-score" />
    <url value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-hrd-score" />
    <version value="2024.0.0-ballot" />
    <name value="MII_PR_MTB_HRD_Score" />
    <title value="MII PR MTB HRD Score" />
    <status value="draft" />
    <publisher value="Medizininformatik Initiative" />
    <contact>
        <telecom>
            <system value="url" />
            <value value="https://www.medizininformatik-initiative.de" />
        </telecom>
    </contact>
    <description value="Der HRD-Score, welcher den Grad der homologen Rekombinationsdefizienz bei Zellen beschreibt." />
    <fhirVersion value="4.0.1" />
    <kind value="resource" />
    <abstract value="false" />
    <type value="Observation" />
    <baseDefinition value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-molekularer-biomarker" />
    <derivation value="constraint" />
    <differential>
        <element id="Observation.identifier">
            <path value="Observation.identifier" />
            <mustSupport value="true" />
        </element>
        <element id="Observation.category">
            <path value="Observation.category" />
            <mustSupport value="true" />
        </element>
        <element id="Observation.code">
            <path value="Observation.code" />
            <patternCodeableConcept>
                <coding>
                    <system value="http://loinc.org" />
                    <code value="107286-7" />
                </coding>
            </patternCodeableConcept>
        </element>
        <element id="Observation.subject">
            <path value="Observation.subject" />
            <min value="1" />
            <type>
                <code value="Reference" />
                <targetProfile value="http://hl7.org/fhir/StructureDefinition/Patient" />
                <targetProfile value="http://hl7.org/fhir/StructureDefinition/Group" />
            </type>
            <mustSupport value="true" />
        </element>
        <element id="Observation.encounter">
            <path value="Observation.encounter" />
            <mustSupport value="true" />
        </element>
        <element id="Observation.value[x]">
            <path value="Observation.value[x]" />
            <short value="HRD-Score" />
            <definition value="HRD-Score als Summe der LOH, TAI und LST-Werte" />
            <type>
                <code value="integer" />
            </type>
            <mustSupport value="true" />
        </element>
        <element id="Observation.interpretation">
            <path value="Observation.interpretation" />
            <mustSupport value="true" />
            <binding>
                <strength value="required" />
                <valueSet value="http://hl7.org/fhir/uv/genomics-reporting/ValueSet/high-low-codes-vs" />
            </binding>
        </element>
        <element id="Observation.specimen">
            <path value="Observation.specimen" />
            <mustSupport value="true" />
        </element>
        <element id="Observation.component">
            <path value="Observation.component" />
            <slicing>
                <discriminator>
                    <type value="value" />
                    <path value="code" />
                </discriminator>
                <description value="Elements of the HRD Score" />
                <ordered value="false" />
                <rules value="closed" />
            </slicing>
        </element>
        <element id="Observation.component:LOH">
            <path value="Observation.component" />
            <sliceName value="LOH" />
            <short value="Loss of heterozygosity" />
            <min value="0" />
            <max value="1" />
            <mustSupport value="true" />
        </element>
        <element id="Observation.component:LOH.code">
            <path value="Observation.component.code" />
            <patternCodeableConcept>
                <coding>
                    <system value="https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem-ncit.html" />
                    <code value="C18016" />
                    <display value="Loss of Heterozygosity" />
                </coding>
            </patternCodeableConcept>
        </element>
        <element id="Observation.component:LOH.value[x]">
            <path value="Observation.component.value[x]" />
            <type>
                <code value="integer" />
            </type>
            <mustSupport value="true" />
        </element>
        <element id="Observation.component:TAI">
            <path value="Observation.component" />
            <sliceName value="TAI" />
            <short value="Telomeric allelic imbalance" />
            <min value="0" />
            <max value="1" />
            <mustSupport value="true" />
        </element>
        <element id="Observation.component:TAI.code">
            <path value="Observation.component.code" />
            <patternCodeableConcept>
                <coding>
                    <system value="https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem-ncit.html" />
                    <code value="C129774" />
                    <display value="Telomeric Allelic Imbalance Region" />
                </coding>
            </patternCodeableConcept>
        </element>
        <element id="Observation.component:TAI.value[x]">
            <path value="Observation.component.value[x]" />
            <type>
                <code value="integer" />
            </type>
            <mustSupport value="true" />
        </element>
        <element id="Observation.component:LST">
            <path value="Observation.component" />
            <sliceName value="LST" />
            <short value="Large-scale state transitions" />
            <min value="0" />
            <max value="1" />
            <mustSupport value="true" />
        </element>
        <element id="Observation.component:LST.code">
            <path value="Observation.component.code" />
            <patternCodeableConcept>
                <coding>
                    <system value="https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem-ncit.html" />
                    <code value="C120466" />
                    <display value="Large-Scale State Transition" />
                </coding>
            </patternCodeableConcept>
        </element>
        <element id="Observation.component:LST.value[x]">
            <path value="Observation.component.value[x]" />
            <type>
                <code value="integer" />
            </type>
            <mustSupport value="true" />
        </element>
    </differential>
</StructureDefinition>
{
    "resourceType": "StructureDefinition",
    "id": "mii-pr-mtb-hrd-score",
    "url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-hrd-score",
    "version": "2024.0.0-ballot",
    "name": "MII_PR_MTB_HRD_Score",
    "title": "MII PR MTB HRD Score",
    "status": "draft",
    "publisher": "Medizininformatik Initiative",
    "contact":  [
        {
            "telecom":  [
                {
                    "system": "url",
                    "value": "https://www.medizininformatik-initiative.de"
                }
            ]
        }
    ],
    "description": "Der HRD-Score, welcher den Grad der homologen Rekombinationsdefizienz bei Zellen beschreibt.",
    "fhirVersion": "4.0.1",
    "kind": "resource",
    "abstract": false,
    "type": "Observation",
    "baseDefinition": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-molekularer-biomarker",
    "derivation": "constraint",
    "differential": {
        "element":  [
            {
                "id": "Observation.identifier",
                "path": "Observation.identifier",
                "mustSupport": true
            },
            {
                "id": "Observation.category",
                "path": "Observation.category",
                "mustSupport": true
            },
            {
                "id": "Observation.code",
                "path": "Observation.code",
                "patternCodeableConcept": {
                    "coding":  [
                        {
                            "code": "107286-7",
                            "system": "http://loinc.org"
                        }
                    ]
                }
            },
            {
                "id": "Observation.subject",
                "path": "Observation.subject",
                "min": 1,
                "type":  [
                    {
                        "code": "Reference",
                        "targetProfile":  [
                            "http://hl7.org/fhir/StructureDefinition/Patient",
                            "http://hl7.org/fhir/StructureDefinition/Group"
                        ]
                    }
                ],
                "mustSupport": true
            },
            {
                "id": "Observation.encounter",
                "path": "Observation.encounter",
                "mustSupport": true
            },
            {
                "id": "Observation.value[x]",
                "path": "Observation.value[x]",
                "short": "HRD-Score",
                "definition": "HRD-Score als Summe der LOH, TAI und LST-Werte",
                "type":  [
                    {
                        "code": "integer"
                    }
                ],
                "mustSupport": true
            },
            {
                "id": "Observation.interpretation",
                "path": "Observation.interpretation",
                "mustSupport": true,
                "binding": {
                    "strength": "required",
                    "valueSet": "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/high-low-codes-vs"
                }
            },
            {
                "id": "Observation.specimen",
                "path": "Observation.specimen",
                "mustSupport": true
            },
            {
                "id": "Observation.component",
                "path": "Observation.component",
                "slicing": {
                    "discriminator":  [
                        {
                            "type": "value",
                            "path": "code"
                        }
                    ],
                    "rules": "closed",
                    "description": "Elements of the HRD Score",
                    "ordered": false
                }
            },
            {
                "id": "Observation.component:LOH",
                "path": "Observation.component",
                "sliceName": "LOH",
                "short": "Loss of heterozygosity",
                "min": 0,
                "max": "1",
                "mustSupport": true
            },
            {
                "id": "Observation.component:LOH.code",
                "path": "Observation.component.code",
                "patternCodeableConcept": {
                    "coding":  [
                        {
                            "code": "C18016",
                            "system": "https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem-ncit.html",
                            "display": "Loss of Heterozygosity"
                        }
                    ]
                }
            },
            {
                "id": "Observation.component:LOH.value[x]",
                "path": "Observation.component.value[x]",
                "type":  [
                    {
                        "code": "integer"
                    }
                ],
                "mustSupport": true
            },
            {
                "id": "Observation.component:TAI",
                "path": "Observation.component",
                "sliceName": "TAI",
                "short": "Telomeric allelic imbalance",
                "min": 0,
                "max": "1",
                "mustSupport": true
            },
            {
                "id": "Observation.component:TAI.code",
                "path": "Observation.component.code",
                "patternCodeableConcept": {
                    "coding":  [
                        {
                            "code": "C129774",
                            "system": "https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem-ncit.html",
                            "display": "Telomeric Allelic Imbalance Region"
                        }
                    ]
                }
            },
            {
                "id": "Observation.component:TAI.value[x]",
                "path": "Observation.component.value[x]",
                "type":  [
                    {
                        "code": "integer"
                    }
                ],
                "mustSupport": true
            },
            {
                "id": "Observation.component:LST",
                "path": "Observation.component",
                "sliceName": "LST",
                "short": "Large-scale state transitions",
                "min": 0,
                "max": "1",
                "mustSupport": true
            },
            {
                "id": "Observation.component:LST.code",
                "path": "Observation.component.code",
                "patternCodeableConcept": {
                    "coding":  [
                        {
                            "code": "C120466",
                            "system": "https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem-ncit.html",
                            "display": "Large-Scale State Transition"
                        }
                    ]
                }
            },
            {
                "id": "Observation.component:LST.value[x]",
                "path": "Observation.component.value[x]",
                "type":  [
                    {
                        "code": "integer"
                    }
                ],
                "mustSupport": true
            }
        ]
    }
}

Mapping Datensatz zu FHIR

DatensatzErklaerungFHIR
HRD Score

HRD Score

MII_PR_MTB_HRD_Score
Interpretation

Interpretation

MII_PR_MTB_HRD_Score.interpretation
Wert

Wert

MII_PR_MTB_HRD_Score.value

Suchparameter

Folgende Suchparameter sind für das Modul Molekulares Tumorboard relevant, auch in Kombination:

  1. Der Suchparameter "_id" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Observation?_id=12345

    Anwendungshinweise: Weitere Informationen zur Suche nach "_id" finden sich in der FHIR-Basisspezifikation - Abschnitt "Parameters for all resources".

  2. Der Suchparameter "_profile" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Observation?_profile=https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-hrd-score

    Anwendungshinweise: Weitere Informationen zur Suche nach "_profile" finden sich in der FHIR-Basisspezifikation - Abschnitt "token".

  3. Der Suchparameter "category" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Observation?category=http://terminology.hl7.org/CodeSystem/observation-category|laboratory

    Anwendungshinweise: Weitere Informationen zur Suche nach "subject" finden sich in der FHIR-Basisspezifikation - Abschnitt "reference".

  4. Der Suchparameter "subject" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Observation?subject=Patient/example

    Anwendungshinweise: Weitere Informationen zur Suche nach "subject" finden sich in der FHIR-Basisspezifikation - Abschnitt "reference".

  5. Der Suchparameter "focus" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Observation?focus=Condition/example

    Anwendungshinweise: Weitere Informationen zur Suche nach "focus" finden sich in der FHIR-Basisspezifikation - Abschnitt "reference".

  6. Der Suchparameter "encounter" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Observation?encounter=Encounter/example

    Anwendungshinweise: Weitere Informationen zur Suche nach "encounter" finden sich in der FHIR-Basisspezifikation - Abschnitt "reference".

  7. Der Suchparameter "interpretation" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Observation?interpretation=http://snomed.info/sct|55446002

    Anwendungshinweise: Weitere Informationen zur Suche nach "interpretation" finden sich in der FHIR-Basisspezifikation - Abschnitt "token".

  8. Der Suchparameter "specimen" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Observation?specimen=Specimen/example

    Anwendungshinweise: Weitere Informationen zur Suche nach "specimen" finden sich in der FHIR-Basisspezifikation - Abschnitt "reference".


Beispiele

Observation.id[0]MII-EXA-MTB-HRD-Score-1
Observation.meta[0].profile[0]https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-hrd-score
Observation.status[0]final
Observation.category[0].coding[0].system[0]http://terminology.hl7.org/CodeSystem/observation-category
Observation.category[0].coding[0].code[0]laboratory
Observation.category[0].coding[0].display[0]Laboratory
Observation.category[1].coding[0].system[0]http://terminology.hl7.org/CodeSystem/v2-0074
Observation.category[1].coding[0].code[0]GE
Observation.category[2].coding[0].system[0]http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs
Observation.category[2].coding[0].code[0]biomarker-category
Observation.code[0].coding[0].system[0]http://loinc.org
Observation.code[0].coding[0].code[0]107286-7
Observation.code[0].coding[0].display[0]Homologous recombination deficiency status analysis [Presence] in Tissue by Molecular genetics method
Observation.subject[0].reference[0]Patient/example
Observation.encounter[0].reference[0]Encounter/example
Observation.performer[0].reference[0]Practitioner/example
Observation.value[0]43
Observation.interpretation[0].coding[0].system[0]http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation
Observation.interpretation[0].coding[0].code[0]H
Observation.specimen[0].reference[0]Specimen/example
Observation.component[0].code[0].coding[0].system[0]https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem-ncit.html
Observation.component[0].code[0].coding[0].code[0]C18016
Observation.component[0].code[0].coding[0].display[0]Loss of Heterozygosity
Observation.component[0].value[0]14
Observation.component[1].code[0].coding[0].system[0]https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem-ncit.html
Observation.component[1].code[0].coding[0].code[0]C129774
Observation.component[1].code[0].coding[0].display[0]Telomeric Allelic Imbalance Region
Observation.component[1].value[0]12
Observation.component[2].code[0].coding[0].system[0]https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem-ncit.html
Observation.component[2].code[0].coding[0].code[0]C120466
Observation.component[2].code[0].coding[0].display[0]Large-Scale State Transition
Observation.component[2].value[0]17
{
    "resourceType": "Observation",
    "id": "MII-EXA-MTB-HRD-Score-1",
    "meta": {
        "profile":  [
            "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-hrd-score"
        ]
    },
    "category":  [
        {
            "coding":  [
                {
                    "code": "laboratory",
                    "system": "http://terminology.hl7.org/CodeSystem/observation-category",
                    "display": "Laboratory"
                }
            ]
        },
        {
            "coding":  [
                {
                    "code": "GE",
                    "system": "http://terminology.hl7.org/CodeSystem/v2-0074"
                }
            ]
        },
        {
            "coding":  [
                {
                    "code": "biomarker-category",
                    "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"
                }
            ]
        }
    ],
    "performer":  [
        {
            "reference": "Practitioner/example"
        }
    ],
    "interpretation":  [
        {
            "coding":  [
                {
                    "code": "H",
                    "system": "http://terminology.hl7.org/CodeSystem/v3-ObservationInterpretation"
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        "reference": "Patient/example"
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        "reference": "Specimen/example"
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}