MII-Initiative

MII IG Modul Seltene Erkrankungen

SE-Diagnose -genetisch - Condition

Dieses Profil beschreibt eine genetisch bestätigte Diagnose einer seltenen Erkrankung. Es wird verwendet, wenn die Diagnose durch molekulargenetische Untersuchung bestätigt wurde.

NameStatusVersionCanonicalBasis
MII_PR_Seltene_GeneticDiagnosisdraft2026.0.0-ballothttps://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-genetic-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
penetranceS C0..1Extension(CodeableConcept)
modifierExtension?! C0..*Extension
identifierΣ0..*Identifier
clinicalStatusS Σ ?! C0..1CodeableConceptBinding
verificationStatusS Σ ?! C0..1CodeableConceptBinding
categoryS1..*CodeableConceptBindingPattern
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
assessmentC0..*Reference(ClinicalImpression | DiagnosticReport | Observation)
type0..1CodeableConcept
id0..1string
extensionC0..*Extension
modifierExtensionΣ ?! C0..*Extension
id0..1string
extensionC0..*Extension
geneticEvidenceS Σ0..1CodingPattern
textΣ0..1string
detailS Σ C1..*Reference(Observation | DiagnosticReport)
noteS0..*Annotation

Profile for genetically confirmed diagnosis of rare diseases with OMIM codes and links to MolGen variant/diagnostic implication resources. This profile is used when a rare disease diagnosis has been confirmed through genetic testing.

FeldnameKurzbeschreibungHinweise
Condition.extension:penetrancePenetranz der genetischen Variante
Condition.categoryKategorisierung als genetische Erkrankung
Condition.severity
Condition.code.coding:omimOMIM disease code
Condition.code.coding:omim.system
Condition.code.coding:omim.code
Condition.code.coding:omim.display
Condition.abatement[x]
Condition.recorder
Condition.asserter
Condition.stage
Condition.evidenceGenetic evidence supporting the diagnosis
Condition.evidence.codeType of genetic evidence
Condition.evidence.code.coding:geneticEvidenceIndicates genetic evidence
Condition.evidence.detailReference to MolGen Variant or Diagnostic Implication

Should reference: 1) MII PR MolGen Variante (Observation) for specific variant findings, or 2) MII PR MolGen DiagnostischeImplikation (DiagnosticReport) for comprehensive genetic diagnostic reports

<StructureDefinition xmlns="http://hl7.org/fhir">
<id value="mii-pr-seltene-genetic-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-genetic-diagnosis" />
<version value="2026.0.0-ballot" />
<name value="MII_PR_Seltene_GeneticDiagnosis" />
<title value="MII PR SE Genetic Diagnosis" />
<status value="draft" />
<publisher value="Medizininformatik Initiative" />
<system value="url" />
<value value="https://www.medizininformatik-initiative.de" />
</telecom>
</contact>
<description value="Profile for genetically confirmed diagnosis of rare diseases with OMIM codes and links to MolGen variant/diagnostic implication resources. This profile is used when a rare disease diagnosis has been confirmed through genetic testing." />
<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" />
<key value="se-genetic-evidence" />
<severity value="error" />
<human value="Genetic diagnosis must have at least one evidence.detail referencing a MolGen resource" />
<expression value="evidence.exists() and evidence.detail.exists()" />
<source value="https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-genetic-diagnosis" />
</constraint>
<identity value="SE-LogicalModel" />
<map value="AnamneseUndDiagnostik.GenetischeDiagnose" />
<comment value="Genetische 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.GenetischeDiagnose.FeststellungsdatumGenDia" />
<comment value="Feststellungsdatum genetische SE-Diagnose" />
</mapping>
</element>
<element id="Condition.extension:penetrance">
<path value="Condition.extension" />
<sliceName value="penetrance" />
<short value="Penetranz der genetischen Variante" />
<definition value="Angabe zur Penetranz der genetischen Variante bei dieser Erkrankung" />
<min value="0" />
<max value="1" />
<code value="Extension" />
<profile value="https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-penetrance" />
</type>
<mustSupport value="true" />
<identity value="SE-LogicalModel" />
<map value="AnamneseUndDiagnostik.GenDiaFehlendePenetranz" />
<comment value="Genetische Diagnose mit fehlender Penetranz" />
</mapping>
</element>
<element id="Condition.verificationStatus">
<path value="Condition.verificationStatus" />
<comment value="For genetically confirmed diagnoses, verificationStatus should typically be 'confirmed'" />
</element>
<element id="Condition.category">
<path value="Condition.category" />
<short value="Kategorisierung als genetische Erkrankung" />
<definition value="Pflicht-Kategorie zur Kennzeichnung als genetisch bestätigte Erkrankung" />
<min value="1" />
<system value="http://snomed.info/sct" />
<code value="782964007" />
<display value="Genetic disease" />
</coding>
</patternCodeableConcept>
<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.GenetischeDiagnose" />
<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.GenetischeDiagnose" />
<comment value="Orpha-Code Diagnose" />
</mapping>
</element>
<element id="Condition.code.coding:omim">
<path value="Condition.code.coding" />
<sliceName value="omim" />
<short value="OMIM disease code" />
<definition value="Online Mendelian Inheritance in Man (OMIM) code for the genetic disease" />
<min value="0" />
<max value="*" />
<system value="http://omim.org" />
</patternCoding>
<mustSupport value="true" />
<identity value="SE-LogicalModel" />
<map value="AnamneseUndDiagnostik.GenetischeDiagnose" />
<comment value="OMIM-Code Diagnose" />
</mapping>
</element>
<element id="Condition.code.coding:omim.system">
<path value="Condition.code.coding.system" />
<min value="1" />
<mustSupport value="true" />
</element>
<element id="Condition.code.coding:omim.code">
<path value="Condition.code.coding.code" />
<min value="1" />
<mustSupport value="true" />
</element>
<element id="Condition.code.coding:omim.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.GenetischeDiagnose.AlterGenDia" />
<comment value="Alter/Zeitpunkt bei genetischer 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.GenetischeDiagnose.FeststellungsdatumGenDia" />
<comment value="Feststellungsdatum genetische 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.evidence">
<path value="Condition.evidence" />
<short value="Genetic evidence supporting the diagnosis" />
<min value="1" />
<mustSupport value="true" />
</element>
<element id="Condition.evidence.code">
<path value="Condition.evidence.code" />
<short value="Type of genetic evidence" />
<mustSupport value="true" />
<identity value="SE-LogicalModel" />
<map value="AnamneseUndDiagnostik.MethodeDiagnosestellung" />
<comment value="Methode der Diagnosestellung" />
</mapping>
</element>
<element id="Condition.evidence.code.coding">
<path value="Condition.evidence.code.coding" />
<type value="pattern" />
<path value="$this" />
</discriminator>
<rules value="open" />
</slicing>
</element>
<element id="Condition.evidence.code.coding:geneticEvidence">
<path value="Condition.evidence.code.coding" />
<sliceName value="geneticEvidence" />
<short value="Indicates genetic evidence" />
<min value="0" />
<max value="1" />
<system value="http://snomed.info/sct" />
<code value="106221001" />
<display value="Genetic finding" />
</patternCoding>
<mustSupport value="true" />
</element>
<element id="Condition.evidence.detail">
<path value="Condition.evidence.detail" />
<short value="Reference to MolGen Variant or Diagnostic Implication" />
<definition value="Must reference either MII PR MolGen Variante or MII PR MolGen DiagnostischeImplikation resources that contain the genetic findings supporting this diagnosis" />
<comment value="Should reference: 1) MII PR MolGen Variante (Observation) for specific variant findings, or 2) MII PR MolGen DiagnostischeImplikation (DiagnosticReport) for comprehensive genetic diagnostic reports" />
<min value="1" />
<code value="Reference" />
<targetProfile value="http://hl7.org/fhir/StructureDefinition/Observation" />
<targetProfile value="http://hl7.org/fhir/StructureDefinition/DiagnosticReport" />
</type>
<mustSupport value="true" />
<identity value="SE-LogicalModel" />
<map value="Verweis auf MolGen Variante/DiagnostischeImplikation" />
<comment value="Genetische Befunde" />
</mapping>
</element>
</differential>
</StructureDefinition>
{
"resourceType": "StructureDefinition",
"id": "mii-pr-seltene-genetic-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-genetic-diagnosis",
"version": "2026.0.0-ballot",
"name": "MII_PR_Seltene_GeneticDiagnosis",
"title": "MII PR SE Genetic Diagnosis",
"status": "draft",
"publisher": "Medizininformatik Initiative",
"contact": [
{
"telecom": [
{
"system": "url",
"value": "https://www.medizininformatik-initiative.de"
}
]
}
],
"description": "Profile for genetically confirmed diagnosis of rare diseases with OMIM codes and links to MolGen variant/diagnostic implication resources. This profile is used when a rare disease diagnosis has been confirmed through genetic testing.",
"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",
{
"key": "se-genetic-evidence",
"severity": "error",
"human": "Genetic diagnosis must have at least one evidence.detail referencing a MolGen resource",
"expression": "evidence.exists() and evidence.detail.exists()",
"source": "https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-pr-seltene-genetic-diagnosis"
}
],
"mapping": [
{
"identity": "SE-LogicalModel",
"map": "AnamneseUndDiagnostik.GenetischeDiagnose",
"comment": "Genetische 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.GenetischeDiagnose.FeststellungsdatumGenDia",
"comment": "Feststellungsdatum genetische SE-Diagnose"
}
]
},
{
"id": "Condition.extension:penetrance",
"path": "Condition.extension",
"sliceName": "penetrance",
"short": "Penetranz der genetischen Variante",
"definition": "Angabe zur Penetranz der genetischen Variante bei dieser Erkrankung",
"min": 0,
"max": "1",
"type": [
{
"code": "Extension",
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-seltene/StructureDefinition/mii-ex-seltene-penetrance"
]
}
],
"mustSupport": true,
"mapping": [
{
"identity": "SE-LogicalModel",
"map": "AnamneseUndDiagnostik.GenDiaFehlendePenetranz",
"comment": "Genetische Diagnose mit fehlender Penetranz"
}
]
},
{
"id": "Condition.verificationStatus",
"path": "Condition.verificationStatus",
"comment": "For genetically confirmed diagnoses, verificationStatus should typically be 'confirmed'"
},
{
"id": "Condition.category",
"path": "Condition.category",
"short": "Kategorisierung als genetische Erkrankung",
"definition": "Pflicht-Kategorie zur Kennzeichnung als genetisch bestätigte Erkrankung",
"min": 1,
"coding": [
{
"code": "782964007",
"system": "http://snomed.info/sct",
"display": "Genetic disease"
}
]
},
"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.GenetischeDiagnose",
"comment": "ICD-10-GM Diagnose"
}
]
},
{
"id": "Condition.code.coding:orphanet",
"path": "Condition.code.coding",
"sliceName": "orphanet",
"mapping": [
{
"identity": "SE-LogicalModel",
"map": "AnamneseUndDiagnostik.GenetischeDiagnose",
"comment": "Orpha-Code Diagnose"
}
]
},
{
"id": "Condition.code.coding:omim",
"path": "Condition.code.coding",
"sliceName": "omim",
"short": "OMIM disease code",
"definition": "Online Mendelian Inheritance in Man (OMIM) code for the genetic disease",
"min": 0,
"max": "*",
"system": "http://omim.org"
},
"mustSupport": true,
"mapping": [
{
"identity": "SE-LogicalModel",
"map": "AnamneseUndDiagnostik.GenetischeDiagnose",
"comment": "OMIM-Code Diagnose"
}
]
},
{
"id": "Condition.code.coding:omim.system",
"path": "Condition.code.coding.system",
"min": 1,
"mustSupport": true
},
{
"id": "Condition.code.coding:omim.code",
"path": "Condition.code.coding.code",
"min": 1,
"mustSupport": true
},
{
"id": "Condition.code.coding:omim.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.GenetischeDiagnose.AlterGenDia",
"comment": "Alter/Zeitpunkt bei genetischer SE-Diagnose"
}
]
},
{
"id": "Condition.onset[x]:onsetDateTime",
"path": "Condition.onset[x]",
"sliceName": "onsetDateTime",
"type": [
{
"code": "dateTime"
}
],
"mapping": [
{
"identity": "SE-LogicalModel",
"map": "AnamneseUndDiagnostik.GenetischeDiagnose.FeststellungsdatumGenDia",
"comment": "Feststellungsdatum genetische 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.evidence",
"path": "Condition.evidence",
"short": "Genetic evidence supporting the diagnosis",
"min": 1,
"mustSupport": true
},
{
"id": "Condition.evidence.code",
"path": "Condition.evidence.code",
"short": "Type of genetic evidence",
"mustSupport": true,
"mapping": [
{
"identity": "SE-LogicalModel",
"map": "AnamneseUndDiagnostik.MethodeDiagnosestellung",
"comment": "Methode der Diagnosestellung"
}
]
},
{
"id": "Condition.evidence.code.coding",
"path": "Condition.evidence.code.coding",
"slicing": {
{
"type": "pattern",
"path": "$this"
}
],
"rules": "open"
}
},
{
"id": "Condition.evidence.code.coding:geneticEvidence",
"path": "Condition.evidence.code.coding",
"sliceName": "geneticEvidence",
"short": "Indicates genetic evidence",
"min": 0,
"max": "1",
"code": "106221001",
"system": "http://snomed.info/sct",
"display": "Genetic finding"
},
"mustSupport": true
},
{
"id": "Condition.evidence.detail",
"path": "Condition.evidence.detail",
"short": "Reference to MolGen Variant or Diagnostic Implication",
"definition": "Must reference either MII PR MolGen Variante or MII PR MolGen DiagnostischeImplikation resources that contain the genetic findings supporting this diagnosis",
"comment": "Should reference: 1) MII PR MolGen Variante (Observation) for specific variant findings, or 2) MII PR MolGen DiagnostischeImplikation (DiagnosticReport) for comprehensive genetic diagnostic reports",
"min": 1,
"type": [
{
"code": "Reference",
"http://hl7.org/fhir/StructureDefinition/Observation",
"http://hl7.org/fhir/StructureDefinition/DiagnosticReport"
]
}
],
"mustSupport": true,
"mapping": [
{
"identity": "SE-LogicalModel",
"map": "Verweis auf MolGen Variante/DiagnostischeImplikation",
"comment": "Genetische Befunde"
}
]
}
]
}
}

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-genetic-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/observation-category|laboratory

    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/sct|184305005

    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 "focus" MUSS unterstützt werden:

    Beispiele:

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

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

  7. 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".

  8. Der Suchparameter "date" MUSS unterstützt werden:

    Beispiele:

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

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

  9. Der Suchparameter "derived-from" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Condition?derived-from=Observation/example

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

Beispiele

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