MII-Initiative

MII IG Modul Seltene Erkrankungen

SE-Diagnose klinisch - Condition

Dieses Profil beschreibt eine klinisch gestellte Diagnose einer seltenen Erkrankung. Es wird verwendet, wenn die Diagnose auf klinischen Befunden und phänotypischen Merkmalen basiert.

NameStatusVersionCanonicalBasis
MII_PR_Seltene_ClinicalDiagnosisdraft2026.0.0-ballothttps://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-clinical-diagnosishttps://www.medizininformatik-initiative.de/fhir/core/modul-diagnose/StructureDefinition/Diagnose

Inhalt

idS Σ0..1string
id0..1string
extensionC0..*Extension
versionIdΣ0..1id
lastUpdatedΣ0..1instant
sourceS Σ0..1uri
profileS Σ0..*canonical(StructureDefinition)
securityΣ0..*CodingBinding
tagΣ0..*Coding
implicitRulesΣ ?!0..1uri
language0..1codeBinding
text0..1Narrative
contained0..*Resource
ReferenzPrimaerdiagnoseS C0..1Extension(Reference(Condition))
id0..1string
extensionC0..0Extension
url1..1uriFixed Value
valueDateTimedateTime
modifierExtension?! C0..*Extension
identifierΣ0..*Identifier
clinicalStatusS Σ ?! C0..1CodeableConceptBinding
verificationStatusS Σ ?! C0..1CodeableConceptBinding
categoryS1..*CodeableConceptBinding
severityS0..1CodeableConceptBinding
id0..1string
extensionC0..*Extension
id0..1string
extensionC0..*Extension
systemΣ0..1uri
versionΣ0..1string
codeΣ0..1code
displayΣ0..1string
userSelectedΣ0..1boolean
id0..1string
Mehrfachcodierungs-KennzeichenC0..1Extension(Coding)
SeitenlokalisationC0..1Extension(Coding)
DiagnosesicherheitC0..1Extension(Coding)
systemS Σ1..1uriFixed ValuePattern
versionS Σ1..1string
codeS Σ C1..1code
displayΣ0..1string
userSelectedΣ0..1boolean
id0..1string
extensionC0..*Extension
systemS Σ1..1uriFixed ValuePattern
versionΣ1..1string
codeS Σ1..1code
displayΣ0..1string
userSelectedΣ0..1boolean
id0..1string
extensionC0..*Extension
systemS Σ1..1uriPattern
versionS Σ0..1string
codeS Σ1..1code
displayΣ0..1string
userSelectedΣ0..1boolean
id0..1string
extensionC0..*Extension
systemS Σ1..1uriPattern
versionΣ0..1string
codeS Σ1..1code
displayΣ0..1string
userSelectedΣ0..1boolean
id0..1string
extensionC0..*Extension
systemS Σ1..1uriPattern
versionΣ0..1string
codeS Σ1..1code
displayS Σ0..1string
userSelectedΣ0..1boolean
textΣ0..1string
id0..1string
extensionC0..*Extension
id0..1string
extensionC0..*Extension
systemS Σ1..1uriPattern
versionS Σ0..1string
codeS Σ1..1code
displayΣ0..1string
userSelectedΣ0..1boolean
textΣ0..1string
subjectS Σ C1..1Reference(Patient | Group)
encounterS Σ C0..1Reference(Encounter)
id0..1string
extensionC0..*Extension
id0..1string
id0..1string
extensionC0..0Extension
url1..1uriFixed Value
id0..1string
extensionC0..*Extension
id0..1string
extensionC0..*Extension
systemΣ1..1uri
versionΣ0..1string
codeΣ1..1code
displayΣ0..1string
userSelectedΣ0..1boolean
textΣ0..1string
value0..1System.DateTime
id0..1string
id0..1string
extensionC0..0Extension
url1..1uriFixed Value
id0..1string
extensionC0..*Extension
id0..1string
extensionC0..*Extension
systemΣ1..1uri
versionΣ0..1string
codeΣ1..1code
displayΣ0..1string
userSelectedΣ0..1boolean
textΣ0..1string
value0..1System.DateTime
onsetDateTimeS Σ0..1dateTime
abatementDateTimedateTime
abatementAgeAge
abatementPeriodPeriod
abatementRangeRange
abatementStringstring
recordedDateS Σ1..1dateTime
recorderS Σ C0..1Reference(Practitioner | PractitionerRole | Patient | RelatedPerson)
asserterS Σ C0..1Reference(Practitioner | PractitionerRole | Patient | RelatedPerson)
id0..1string
extensionC0..*Extension
modifierExtensionΣ ?! C0..*Extension
summaryC0..1CodeableConcept
assessmentS C0..*Reference(ClinicalImpression | DiagnosticReport | Observation)
typeS0..1CodeableConcept
id0..1string
extensionC0..*Extension
modifierExtensionΣ ?! C0..*Extension
id0..1string
extensionC0..*Extension
codingΣ0..*CodingBinding
textΣ0..1string
detailS Σ C0..*Reference(Observation)
noteS0..*Annotation

Profile for clinical diagnosis of rare diseases with HPO phenotype codes. This profile is used for clinically diagnosed rare diseases based on phenotypic presentation.

FeldnameKurzbeschreibungHinweise
Condition.category
Condition.severity
Condition.code.coding:hpoHPO Phenotype code

For rare diseases, HPO codes should be provided to describe the phenotypic presentation

Condition.code.coding:hpo.system
Condition.code.coding:hpo.code
Condition.code.coding:hpo.display
Condition.abatement[x]
Condition.recorder
Condition.asserter
Condition.stage
Condition.stage.assessmentReference to HPO-based severity assessment
Condition.stage.typeStage type (e.g., severity, progression)
Condition.evidence
Condition.evidence.codeManifestation/symptom supporting the diagnosis
Condition.evidence.detailReference to Observation resources containing HPO-coded symptoms
<StructureDefinition xmlns="http://hl7.org/fhir">
<id value="mii-pr-seltene-clinical-diagnosis" />
<extension url="https://www.medizininformatik-initiative.de/fhir/modul-meta/StructureDefinition/mii-ex-meta-license-codeable">
<system value="http://hl7.org/fhir/spdx-license" />
<code value="CC-BY-4.0" />
<display value="Creative Commons Attribution 4.0 International" />
</coding>
</valueCodeableConcept>
</extension>
<url value="https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-clinical-diagnosis" />
<version value="2026.0.0-ballot" />
<name value="MII_PR_Seltene_ClinicalDiagnosis" />
<title value="MII PR SE Clinical Diagnosis" />
<status value="draft" />
<publisher value="Medizininformatik Initiative" />
<system value="url" />
<value value="https://www.medizininformatik-initiative.de" />
</telecom>
</contact>
<description value="Profile for clinical diagnosis of rare diseases with HPO phenotype codes. This profile is used for clinically diagnosed rare diseases based on phenotypic presentation." />
<fhirVersion value="4.0.1" />
<identity value="SE-LogicalModel" />
<uri value="https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/LogicalModel/Seltene" />
<name value="Mapping FHIR zu Seltene Erkrankungen Logical Model" />
</mapping>
<kind value="resource" />
<abstract value="false" />
<type value="Condition" />
<baseDefinition value="https://www.medizininformatik-initiative.de/fhir/core/modul-diagnose/StructureDefinition/Diagnose" />
<derivation value="constraint" />
<element id="Condition">
<path value="Condition" />
<identity value="SE-LogicalModel" />
<map value="AnamneseUndDiagnostik.KlinischeDiagnose" />
<comment value="Klinische Diagnose" />
</mapping>
</element>
<element id="Condition.extension:Feststellungsdatum">
<path value="Condition.extension" />
<sliceName value="Feststellungsdatum" />
</element>
<element id="Condition.extension:Feststellungsdatum.value[x]">
<path value="Condition.extension.value[x]" />
<identity value="SE-LogicalModel" />
<map value="AnamneseUndDiagnostik.KlinischeDiagnose.FeststellungsdatumKlinischeDia" />
<comment value="Feststellungsdatum klinische SE-Diagnose" />
</mapping>
</element>
<element id="Condition.category">
<path value="Condition.category" />
<min value="1" />
<mustSupport value="true" />
</element>
<element id="Condition.severity">
<path value="Condition.severity" />
<mustSupport value="true" />
</element>
<element id="Condition.code.coding:icd10-gm">
<path value="Condition.code.coding" />
<sliceName value="icd10-gm" />
<identity value="SE-LogicalModel" />
<map value="AnamneseUndDiagnostik.KlinischeDiagnose" />
<comment value="ICD-10-GM Diagnose" />
</mapping>
</element>
<element id="Condition.code.coding:orphanet">
<path value="Condition.code.coding" />
<sliceName value="orphanet" />
<identity value="SE-LogicalModel" />
<map value="AnamneseUndDiagnostik.KlinischeDiagnose" />
<comment value="Orpha-Code Diagnose" />
</mapping>
</element>
<element id="Condition.code.coding:hpo">
<path value="Condition.code.coding" />
<sliceName value="hpo" />
<short value="HPO Phenotype code" />
<definition value="Human Phenotype Ontology code describing the phenotypic manifestation of the rare disease" />
<comment value="For rare diseases, HPO codes should be provided to describe the phenotypic presentation" />
<min value="0" />
<max value="*" />
<system value="http://human-phenotype-ontology.org" />
</patternCoding>
<mustSupport value="true" />
<strength value="required" />
<valueSet value="https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-hpo-phenotypic-observation-codes" />
</binding>
<identity value="SE-LogicalModel" />
<map value="AnamneseUndDiagnostik.Phaenotypisierung.HPOTerm" />
<comment value="HPO-Term des Symptoms" />
</mapping>
</element>
<element id="Condition.code.coding:hpo.system">
<path value="Condition.code.coding.system" />
<min value="1" />
<mustSupport value="true" />
</element>
<element id="Condition.code.coding:hpo.code">
<path value="Condition.code.coding.code" />
<min value="1" />
<mustSupport value="true" />
</element>
<element id="Condition.code.coding:hpo.display">
<path value="Condition.code.coding.display" />
<mustSupport value="true" />
</element>
<element id="Condition.subject">
<path value="Condition.subject" />
<identity value="SE-LogicalModel" />
<map value="Patient" />
<comment value="Patient/Indexpatient" />
</mapping>
</element>
<element id="Condition.encounter">
<path value="Condition.encounter" />
<identity value="SE-LogicalModel" />
<map value="AnamneseUndDiagnostik.Untersuchungsdatum" />
<comment value="Untersuchungsdatum" />
</mapping>
</element>
<element id="Condition.onset[x]">
<path value="Condition.onset[x]" />
<identity value="SE-LogicalModel" />
<map value="AnamneseUndDiagnostik.KlinischeDiagnose.AlterKlinischeDia" />
<comment value="Alter/Zeitpunkt bei klinischer SE-Diagnose" />
</mapping>
</element>
<element id="Condition.onset[x]:onsetDateTime">
<path value="Condition.onset[x]" />
<sliceName value="onsetDateTime" />
<code value="dateTime" />
</type>
<identity value="SE-LogicalModel" />
<map value="AnamneseUndDiagnostik.KlinischeDiagnose.FeststellungsdatumKlinischeDia" />
<comment value="Feststellungsdatum klinische SE-Diagnose" />
</mapping>
</element>
<element id="Condition.abatement[x]">
<path value="Condition.abatement[x]" />
<mustSupport value="true" />
</element>
<element id="Condition.recorder">
<path value="Condition.recorder" />
<mustSupport value="true" />
</element>
<element id="Condition.asserter">
<path value="Condition.asserter" />
<mustSupport value="true" />
</element>
<element id="Condition.stage">
<path value="Condition.stage" />
<mustSupport value="true" />
</element>
<element id="Condition.stage.assessment">
<path value="Condition.stage.assessment" />
<short value="Reference to HPO-based severity assessment" />
<mustSupport value="true" />
</element>
<element id="Condition.stage.type">
<path value="Condition.stage.type" />
<short value="Stage type (e.g., severity, progression)" />
<mustSupport value="true" />
</element>
<element id="Condition.evidence">
<path value="Condition.evidence" />
<mustSupport value="true" />
</element>
<element id="Condition.evidence.code">
<path value="Condition.evidence.code" />
<short value="Manifestation/symptom supporting the diagnosis" />
<mustSupport value="true" />
<identity value="SE-LogicalModel" />
<map value="AnamneseUndDiagnostik.Phaenotypisierung.HPOTerm" />
<comment value="Unterstützende HPO-Symptome" />
</mapping>
</element>
<element id="Condition.evidence.code.coding">
<path value="Condition.evidence.code.coding" />
<strength value="extensible" />
<valueSet value="https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-hpo-phenotypic-observation-codes" />
</binding>
</element>
<element id="Condition.evidence.detail">
<path value="Condition.evidence.detail" />
<short value="Reference to Observation resources containing HPO-coded symptoms" />
<code value="Reference" />
<targetProfile value="http://hl7.org/fhir/StructureDefinition/Observation" />
</type>
<mustSupport value="true" />
<identity value="SE-LogicalModel" />
<map value="AnamneseUndDiagnostik.Phaenotypisierung" />
<comment value="Verweis auf Phänotypisierung" />
</mapping>
</element>
</differential>
</StructureDefinition>
{
"resourceType": "StructureDefinition",
"id": "mii-pr-seltene-clinical-diagnosis",
{
"url": "https://www.medizininformatik-initiative.de/fhir/modul-meta/StructureDefinition/mii-ex-meta-license-codeable",
"coding": [
{
"system": "http://hl7.org/fhir/spdx-license",
"code": "CC-BY-4.0",
"display": "Creative Commons Attribution 4.0 International"
}
]
}
}
],
"url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-clinical-diagnosis",
"version": "2026.0.0-ballot",
"name": "MII_PR_Seltene_ClinicalDiagnosis",
"title": "MII PR SE Clinical Diagnosis",
"status": "draft",
"publisher": "Medizininformatik Initiative",
"contact": [
{
"telecom": [
{
"system": "url",
"value": "https://www.medizininformatik-initiative.de"
}
]
}
],
"description": "Profile for clinical diagnosis of rare diseases with HPO phenotype codes. This profile is used for clinically diagnosed rare diseases based on phenotypic presentation.",
"fhirVersion": "4.0.1",
"mapping": [
{
"identity": "SE-LogicalModel",
"name": "Mapping FHIR zu Seltene Erkrankungen Logical Model",
"uri": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/LogicalModel/Seltene"
}
],
"kind": "resource",
"abstract": false,
"type": "Condition",
"baseDefinition": "https://www.medizininformatik-initiative.de/fhir/core/modul-diagnose/StructureDefinition/Diagnose",
"derivation": "constraint",
"element": [
{
"id": "Condition",
"path": "Condition",
"mapping": [
{
"identity": "SE-LogicalModel",
"map": "AnamneseUndDiagnostik.KlinischeDiagnose",
"comment": "Klinische Diagnose"
}
]
},
{
"id": "Condition.extension:Feststellungsdatum",
"path": "Condition.extension",
"sliceName": "Feststellungsdatum"
},
{
"id": "Condition.extension:Feststellungsdatum.value[x]",
"path": "Condition.extension.value[x]",
"mapping": [
{
"identity": "SE-LogicalModel",
"map": "AnamneseUndDiagnostik.KlinischeDiagnose.FeststellungsdatumKlinischeDia",
"comment": "Feststellungsdatum klinische SE-Diagnose"
}
]
},
{
"id": "Condition.category",
"path": "Condition.category",
"min": 1,
"mustSupport": true
},
{
"id": "Condition.severity",
"path": "Condition.severity",
"mustSupport": true
},
{
"id": "Condition.code.coding:icd10-gm",
"path": "Condition.code.coding",
"sliceName": "icd10-gm",
"mapping": [
{
"identity": "SE-LogicalModel",
"map": "AnamneseUndDiagnostik.KlinischeDiagnose",
"comment": "ICD-10-GM Diagnose"
}
]
},
{
"id": "Condition.code.coding:orphanet",
"path": "Condition.code.coding",
"sliceName": "orphanet",
"mapping": [
{
"identity": "SE-LogicalModel",
"map": "AnamneseUndDiagnostik.KlinischeDiagnose",
"comment": "Orpha-Code Diagnose"
}
]
},
{
"id": "Condition.code.coding:hpo",
"path": "Condition.code.coding",
"sliceName": "hpo",
"short": "HPO Phenotype code",
"definition": "Human Phenotype Ontology code describing the phenotypic manifestation of the rare disease",
"comment": "For rare diseases, HPO codes should be provided to describe the phenotypic presentation",
"min": 0,
"max": "*",
"system": "http://human-phenotype-ontology.org"
},
"mustSupport": true,
"binding": {
"strength": "required",
"valueSet": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-hpo-phenotypic-observation-codes"
},
"mapping": [
{
"identity": "SE-LogicalModel",
"map": "AnamneseUndDiagnostik.Phaenotypisierung.HPOTerm",
"comment": "HPO-Term des Symptoms"
}
]
},
{
"id": "Condition.code.coding:hpo.system",
"path": "Condition.code.coding.system",
"min": 1,
"mustSupport": true
},
{
"id": "Condition.code.coding:hpo.code",
"path": "Condition.code.coding.code",
"min": 1,
"mustSupport": true
},
{
"id": "Condition.code.coding:hpo.display",
"path": "Condition.code.coding.display",
"mustSupport": true
},
{
"id": "Condition.subject",
"path": "Condition.subject",
"mapping": [
{
"identity": "SE-LogicalModel",
"map": "Patient",
"comment": "Patient/Indexpatient"
}
]
},
{
"id": "Condition.encounter",
"path": "Condition.encounter",
"mapping": [
{
"identity": "SE-LogicalModel",
"map": "AnamneseUndDiagnostik.Untersuchungsdatum",
"comment": "Untersuchungsdatum"
}
]
},
{
"id": "Condition.onset[x]",
"path": "Condition.onset[x]",
"mapping": [
{
"identity": "SE-LogicalModel",
"map": "AnamneseUndDiagnostik.KlinischeDiagnose.AlterKlinischeDia",
"comment": "Alter/Zeitpunkt bei klinischer SE-Diagnose"
}
]
},
{
"id": "Condition.onset[x]:onsetDateTime",
"path": "Condition.onset[x]",
"sliceName": "onsetDateTime",
"type": [
{
"code": "dateTime"
}
],
"mapping": [
{
"identity": "SE-LogicalModel",
"map": "AnamneseUndDiagnostik.KlinischeDiagnose.FeststellungsdatumKlinischeDia",
"comment": "Feststellungsdatum klinische SE-Diagnose"
}
]
},
{
"id": "Condition.abatement[x]",
"path": "Condition.abatement[x]",
"mustSupport": true
},
{
"id": "Condition.recorder",
"path": "Condition.recorder",
"mustSupport": true
},
{
"id": "Condition.asserter",
"path": "Condition.asserter",
"mustSupport": true
},
{
"id": "Condition.stage",
"path": "Condition.stage",
"mustSupport": true
},
{
"id": "Condition.stage.assessment",
"path": "Condition.stage.assessment",
"short": "Reference to HPO-based severity assessment",
"mustSupport": true
},
{
"id": "Condition.stage.type",
"path": "Condition.stage.type",
"short": "Stage type (e.g., severity, progression)",
"mustSupport": true
},
{
"id": "Condition.evidence",
"path": "Condition.evidence",
"mustSupport": true
},
{
"id": "Condition.evidence.code",
"path": "Condition.evidence.code",
"short": "Manifestation/symptom supporting the diagnosis",
"mustSupport": true,
"mapping": [
{
"identity": "SE-LogicalModel",
"map": "AnamneseUndDiagnostik.Phaenotypisierung.HPOTerm",
"comment": "Unterstützende HPO-Symptome"
}
]
},
{
"id": "Condition.evidence.code.coding",
"path": "Condition.evidence.code.coding",
"binding": {
"strength": "extensible",
"valueSet": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/ValueSet/mii-vs-seltene-hpo-phenotypic-observation-codes"
}
},
{
"id": "Condition.evidence.detail",
"path": "Condition.evidence.detail",
"short": "Reference to Observation resources containing HPO-coded symptoms",
"type": [
{
"code": "Reference",
"http://hl7.org/fhir/StructureDefinition/Observation"
]
}
],
"mustSupport": true,
"mapping": [
{
"identity": "SE-LogicalModel",
"map": "AnamneseUndDiagnostik.Phaenotypisierung",
"comment": "Verweis auf Phänotypisierung"
}
]
}
]
}
}

Mapping Datensatz zu FHIR


Mapping Kerndatensatz Seltene Erkrankungen zu FHIR


Suchparameter

Folgende Suchparameter sind für das Modul Seltene Erkrankungen relevant, auch in Kombination:

  1. Der Suchparameter _id MUSS unterstützt werden:

    Beispiele:

    GET [base]/Condition?_id=1234

    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]/Condition?_profile=https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-clinical-diagnosis

    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]/Condition?category=http://terminology.hl7.org/CodeSystem/condition-category|encounter-diagnosis

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

  4. Der Suchparameter "code" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Condition?code=http://fhir.de/CodeSystem/bfarm/icd-10-gm|Q87.4

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

  5. Der Suchparameter "subject" MUSS unterstützt werden:

    Beispiele:

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

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

  6. Der Suchparameter "encounter" MUSS unterstützt werden:

    Beispiele:

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

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

  7. Der Suchparameter "recorded-date" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Condition?recorded-date=2024-02-08

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

  8. Der Suchparameter "verification-status" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Condition?verification-status=provisional

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

  9. Der Suchparameter "clinical-status" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Condition?clinical-status=active

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

Beispiele

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