FHIR IG analytics| Package | de.medizininformatikinitiative.kerndatensatz.molgen |
| Resource Type | StructureDefinition |
| Id | StructureDefinition-LogicalModelMolGen.json |
| FHIR Version | R4 |
| Source | https://medizininformatik-initiative.github.io/kerndatensatzmodul-GenetischeTests/2027.0.0-ballot.rc3/StructureDefinition-LogicalModelMolGen.html |
| URL | https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/LogicalModelMolGen |
| Version | 2027.0.0-ballot.rc3 |
| Status | active |
| Date | 2026-09-11T14:20:27+00:00 |
| Name | MII_LM_MolGen_LogicalModel |
| Title | MII LM MolGen LogicalModel |
| Realm | de |
| Description | LogicalModel des MII Moduls Molekulargenetischer Befundbericht |
| Type | https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/LogicalModelMolGen |
| Kind | logical |
No resources found
| ValueSet | ||
| hl7.fhir.uv.genomics-reporting#current | condition-inheritance-mode-vs | Condition Inheritance Patterns |
| hl7.fhir.uv.genomics-reporting#current | evidence-level-example-vs | Evidence Level Examples |
Note: links and images are rebased to the (stated) source
English
Generated Narrative: StructureDefinition LogicalModelMolGen
| Name | Flags | Card. | Type | Description & Constraints |
|---|---|---|---|---|
  LogicalModelMolGen | 0..* | Element | MII LM MolGen LogicalModel Elements defined in Ancestors:@id, extension | |
  Probeninformation | 1..1 | BackboneElement | Probeninformation | |
  Patient | 1..1 | Reference(Patient) | Patient | |
 Probe | 0..* | Reference(Specimen) | Probe | |
| Anforderung | 0..* | BackboneElement | Anforderung | |
| Indikation | 0..* | BackboneElement | Indikation | |
| Indikation | 0..* | CodeableConcept | Indikation | |
| Gesundheitszustand | 0..* | Reference(Condition) | Gesundheitszustand | |
| KrankengeschichteFamilie | 0..* | Reference(FamilyMemberHistory) | Krankengeschichte Familie | |
| Anlagetraeger | 0..* | Reference(FamilyMemberHistory | Condition | Observation) | Anlageträger | |
| RelevanteVorergebnisse | 0..* | Reference(Condition | Observation | DiagnosticReport | DocumentReference) | Relevante Vorergebnisse | |
| Anforderer | 0..* | Reference(Practitioner | PractitionerRole | Organization | Patient | RelatedPerson | Device) | Anforderer | |
| ZuTestendeGene | 0..* | CodeableConcept | Zu testende Gene | |
| EinheitlicherBewertungsmassstab | 0..* | Reference(ChargeItem) | Einheitlicher Bewertungsmaßstab | |
 Anforderungstext | 0..1 | string | Anforderungstext | |
| DatumDerAnforderung | 0..1 | dateTime | Datum der Anforderung | |
| Bemerkungen | 0..1 | Annotation | Bemerkungen | |
| Methoden | 0..* | BackboneElement | Methoden | |
| Methode | 0..1 | CodeableConcept | Methode | |
| RelevanteParameter | 0..* | Reference(Observation | DocumentReference) | Relevante Parameter | |
| GeraeteSoftwareKits | 0..1 | Reference(Device) | Geräte / Software / Kits | |
| GetesteteGene | 0..* | CodeableConcept | Getestete Gene | |
| Referenzsequenz | 0..1 | CodeableConcept | Referenzsequenz | |
| ReadDepthCoverage | 0..1 | CodeableConcept | Read depth/Coverage | |
| IntronSpanningIVS | 0..* | string | Intron spanning / IVS | |
| StartUndEndnukleotid | 0..1 | Range | Start- und Endnukleotid | |
| SensitivitaetDetektionslimit | 0..1 | Quantity | Sensitivität/Detektionslimit | |
| LimitierungenBemerkungen | 0..* | Annotation | Limitierungen/Bemerkungen | |
| Ergebnisse | 0..* | BackboneElement | Ergebnisse | |
| Zusammenfassung | 0..1 | CodeableConcept | Zusammenfassung Binding: LOINC Answer List LL541-4 (required) | |
| Veraenderungen | 0..* | BackboneElement | Veränderungen | |
| VeraenderungProteinebene | 0..1 | CodeableConcept | Veränderungen auf Proteinebene: Terminologie: HGVS - Angabe möglich von: Formal Protein (pHGVS) 3-letter code: Bsp.: p.(Cys47Tyr), p.(Val600Glu) - Formal Protein (pHGVS) 1-letter code: Bsp.: p.(C47Y) - Trivialname (Kurzform): Bsp.: C47Y | |
| DNAVeraenderungen | 0..1 | CodeableConcept | Veränderung auf DNA-Level, formale Beschreibung mittels cHGVS | |
| GenomischeDNAVeraenderung | 0..1 | CodeableConcept | Genomische DNA Veränderung gHGVS | |
| TranskriptID | 0..1 | CodeableConcept | Transkript- ID (Code) - Terminologie: NCBI, Ensembl, GTR, LRG | |
| Referenzgenom | 0..* | CodeableConcept | Referenzgenom - Der Genome Build hat zwei Formate, entweder hg und eine Nummer (hg18, hg19, hg38) oder GRCh/NCBI und eine Nummer (NCBI35, NCBI36, GRCh37, GRCh38). | |
| RefAllel | 0..1 | string | Referenzallel | |
| AltAllel | 0..1 | string | Jedes alternative (ALT) Allel an dem untersuchten Lokus | |
| DNAMutationstyp | 0..1 | CodeableConcept | Varianten-Typ bzw. Mutationsart - Terminologie: Sequence Ontology (include codes from http://sequenceontology.org where concept IsA SO:0002072) | |
| MutationskonsequenzFunktionell | 0..1 | CodeableConcept | Mutationskonsequenz (funktionell) - Terminologie: Sequence Ontology Binding: LOINC Answer List LL380-7 (required) | |
| ProbenAllelfrequenz | 0..1 | Quantity | Allelfrequenz | |
| UrsprungDerVariante | 0..1 | CodeableConcept | Ursprung der Variante Binding: LOINC Answer List LL378-1 (required) | |
| VariantenID | 0..* | CodeableConcept | Varianten ID; eindeutige Beschreibung der Variante - Terminologie: ClinVar, HGMD, COSMIC, PMID, dbSNP | |
| Chromosom | 0..* | CodeableConcept | Chromosom Binding: LOINC Answer List LL2938-0 (required) | |
| Exon | 0..* | string | Exon | |
| ZytogenetischeLokalisierung | 0..* | CodeableConcept | Variante - Terminologie: ISCN | |
| Kopienzahlvariationen | 0..1 | Quantity | Kopienzahlvariationen der betroffenen Gene | |
| Mutationslast | 0..1 | Quantity | Somat. Mutationen / Mutationslast | |
| Mikrosatelliteninstabilitaet | 0..1 | CodeableConcept | Mikrosatelliteninstabilität Binding: LOINC Answer List LL3994-2 (extensible) | |
| Daten | 0..* | Reference(DocumentReference) | Rohdaten / Link auf die Datei/Dateien | |
| Interpretation | 0..* | BackboneElement | Interpretation | |
| KlinischeSignifikanz | 0..1 | CodeableConcept | Finale Interpretation / Einschätzung Binding: LOINC Answer List LL4034-6 (extensible) | |
| Referenzen | 0..* | RelatedArtifact | Referenzen | |
| ClinicalAnnotationLevelOfEvidence | 0..* | CodeableConcept | Clinical Annotation Level Of Evidence Binding: Evidence Level Examples (example) | |
| AssoziierterPhaenotyp | 0..* | CodeableConcept | Mit Präsenz einer Variante assoziierter Phänotyp | |
| Vererbungsmodus | 0..1 | CodeableConcept | Art der Vererbung für beschriebenen Phänotyp Binding: Condition Inheritance Patterns (preferred) | |
| Zusammenfassung | 0..1 | string | Zusammenfassung als Freitext, kann inhaltlich folgende Punkte beinhalten: Antwort auf ursprüngliche Fragestellung ausformuliert Therapeutikum/Wirkstoff/Wirkstoffklasse Effekt/Auswirkung | |
| Medikamentenbewertung | 0..* | CodeableConcept | Medikamentenbewertung | |
| Empfehlungen | 0..1 | CodeableConcept | Empfehlungen: Andere/Allgemeine Empfehlungen (Freitext / Links) / Generelle ergänzende Referenz(en) (Bsp: PuMed-link / PMID) Binding: LOINC Answer List LL1037-2 (extensible) | |
| Medikationsempfehlung | 0..1 | CodeableConcept | Medikationsempfehlung - Terminologie: LOINC Binding: LOINC Answer List LL4049-4 (required) | |
| Weiteres | 0..* | BackboneElement | WeiteresFormales | |
 BerichtID | 0..* | Identifier | Identifikationsnummer des Berichtes | |
| Anhaenge | 0..* | Reference(Media | DocumentReference) | Anhänge z.B. Tabellarische Übersicht Panel | |
| Berichtstatus | 1..1 | code | Berichtstatus (z.B. vorab oder final) Binding: DiagnosticReportStatus (required) | |
| DatumDesBerichts | 0..1 | instant | Datum des Berichtes /Zeitstempel (Bericht verfasst / freigegeben am) | |
| LaborInstitutionAnsprechpartner | 0..* | BackboneElement | LaborInstitutionAnsprechpartner | |
| Laborakkreditierungen | 0..* | CodeableConcept | Labor-Akkreditierungen | |
| NameAnsprechpartner | 0..* | HumanName | Name Ansprechpartner (Titel - Nachname - Zuname - Vorname) | |
| Adresse | 0..* | Address | Adresszeile 1 & 2, Angabe von Stadt, Postleitzahl, Land | |
| Kontakt | 0..* | ContactPoint | Angabe von Telefonnummer, Faxnummer und Email | |
| Documentation for this format | ||||
German
Generated Narrative: StructureDefinition LogicalModelMolGen
| Name | Flags | Card. | Type | Description & Constraints |
|---|---|---|---|---|
| LogicalModelMolGen | 0..* | Element | MII LM MolGen LogicalModel Elements defined in Ancestors:@id, extension | |
| Probeninformation | 1..1 | BackboneElement | Probeninformation | |
| Patient | 1..1 | Reference(Patient) | Patient | |
| Probe | 0..* | Reference(Specimen) | Probe | |
| Anforderung | 0..* | BackboneElement | Anforderung | |
| Indikation | 0..* | BackboneElement | Indikation | |
| Indikation | 0..* | CodeableConcept | Indikation | |
| Gesundheitszustand | 0..* | Reference(Condition) | Gesundheitszustand | |
| KrankengeschichteFamilie | 0..* | Reference(FamilyMemberHistory) | Krankengeschichte Familie | |
| Anlagetraeger | 0..* | Reference(FamilyMemberHistory | Condition | Observation) | Anlageträger | |
| RelevanteVorergebnisse | 0..* | Reference(Condition | Observation | DiagnosticReport | DocumentReference) | Relevante Vorergebnisse | |
| Anforderer | 0..* | Reference(Practitioner | PractitionerRole | Organization | Patient | RelatedPerson | Device) | Anforderer | |
| ZuTestendeGene | 0..* | CodeableConcept | Zu testende Gene | |
| EinheitlicherBewertungsmassstab | 0..* | Reference(ChargeItem) | Einheitlicher Bewertungsmaßstab | |
| Anforderungstext | 0..1 | string | Anforderungstext | |
| DatumDerAnforderung | 0..1 | dateTime | Datum der Anforderung | |
| Bemerkungen | 0..1 | Annotation | Bemerkungen | |
| Methoden | 0..* | BackboneElement | Methoden | |
| Methode | 0..1 | CodeableConcept | Methode | |
| RelevanteParameter | 0..* | Reference(Observation | DocumentReference) | Relevante Parameter | |
| GeraeteSoftwareKits | 0..1 | Reference(Device) | Geräte / Software / Kits | |
| GetesteteGene | 0..* | CodeableConcept | Getestete Gene | |
| Referenzsequenz | 0..1 | CodeableConcept | Referenzsequenz | |
| ReadDepthCoverage | 0..1 | CodeableConcept | Read depth/Coverage | |
| IntronSpanningIVS | 0..* | string | Intron spanning / IVS | |
| StartUndEndnukleotid | 0..1 | Range | Start- und Endnukleotid | |
| SensitivitaetDetektionslimit | 0..1 | Quantity | Sensitivität/Detektionslimit | |
| LimitierungenBemerkungen | 0..* | Annotation | Limitierungen/Bemerkungen | |
| Ergebnisse | 0..* | BackboneElement | Ergebnisse | |
| Zusammenfassung | 0..1 | CodeableConcept | Zusammenfassung Binding: LOINC Answer List LL541-4 (required) | |
| Veraenderungen | 0..* | BackboneElement | Veränderungen | |
| VeraenderungProteinebene | 0..1 | CodeableConcept | Veränderungen auf Proteinebene: Terminologie: HGVS - Angabe möglich von: Formal Protein (pHGVS) 3-letter code: Bsp.: p.(Cys47Tyr), p.(Val600Glu) - Formal Protein (pHGVS) 1-letter code: Bsp.: p.(C47Y) - Trivialname (Kurzform): Bsp.: C47Y | |
| DNAVeraenderungen | 0..1 | CodeableConcept | Veränderung auf DNA-Level, formale Beschreibung mittels cHGVS | |
| GenomischeDNAVeraenderung | 0..1 | CodeableConcept | Genomische DNA Veränderung gHGVS | |
| TranskriptID | 0..1 | CodeableConcept | Transkript- ID (Code) - Terminologie: NCBI, Ensembl, GTR, LRG | |
| Referenzgenom | 0..* | CodeableConcept | Referenzgenom - Der Genome Build hat zwei Formate, entweder hg und eine Nummer (hg18, hg19, hg38) oder GRCh/NCBI und eine Nummer (NCBI35, NCBI36, GRCh37, GRCh38). | |
| RefAllel | 0..1 | string | Referenzallel | |
| AltAllel | 0..1 | string | Jedes alternative (ALT) Allel an dem untersuchten Lokus | |
| DNAMutationstyp | 0..1 | CodeableConcept | Varianten-Typ bzw. Mutationsart - Terminologie: Sequence Ontology (include codes from http://sequenceontology.org where concept IsA SO:0002072) | |
| MutationskonsequenzFunktionell | 0..1 | CodeableConcept | Mutationskonsequenz (funktionell) - Terminologie: Sequence Ontology Binding: LOINC Answer List LL380-7 (required) | |
| ProbenAllelfrequenz | 0..1 | Quantity | Allelfrequenz | |
| UrsprungDerVariante | 0..1 | CodeableConcept | Ursprung der Variante Binding: LOINC Answer List LL378-1 (required) | |
| VariantenID | 0..* | CodeableConcept | Varianten ID; eindeutige Beschreibung der Variante - Terminologie: ClinVar, HGMD, COSMIC, PMID, dbSNP | |
| Chromosom | 0..* | CodeableConcept | Chromosom Binding: LOINC Answer List LL2938-0 (required) | |
| Exon | 0..* | string | Exon | |
| ZytogenetischeLokalisierung | 0..* | CodeableConcept | Variante - Terminologie: ISCN | |
| Kopienzahlvariationen | 0..1 | Quantity | Kopienzahlvariationen der betroffenen Gene | |
| Mutationslast | 0..1 | Quantity | Somat. Mutationen / Mutationslast | |
| Mikrosatelliteninstabilitaet | 0..1 | CodeableConcept | Mikrosatelliteninstabilität Binding: LOINC Answer List LL3994-2 (extensible) | |
| Daten | 0..* | Reference(DocumentReference) | Rohdaten / Link auf die Datei/Dateien | |
| Interpretation | 0..* | BackboneElement | Interpretation | |
| KlinischeSignifikanz | 0..1 | CodeableConcept | Finale Interpretation / Einschätzung Binding: LOINC Answer List LL4034-6 (extensible) | |
| Referenzen | 0..* | RelatedArtifact | Referenzen | |
| ClinicalAnnotationLevelOfEvidence | 0..* | CodeableConcept | Clinical Annotation Level Of Evidence Binding: Evidence Level Examples (example) | |
| AssoziierterPhaenotyp | 0..* | CodeableConcept | Mit Präsenz einer Variante assoziierter Phänotyp | |
| Vererbungsmodus | 0..1 | CodeableConcept | Art der Vererbung für beschriebenen Phänotyp Binding: Condition Inheritance Patterns (preferred) | |
| Zusammenfassung | 0..1 | string | Zusammenfassung als Freitext, kann inhaltlich folgende Punkte beinhalten: Antwort auf ursprüngliche Fragestellung ausformuliert Therapeutikum/Wirkstoff/Wirkstoffklasse Effekt/Auswirkung | |
| Medikamentenbewertung | 0..* | CodeableConcept | Medikamentenbewertung | |
| Empfehlungen | 0..1 | CodeableConcept | Empfehlungen: Andere/Allgemeine Empfehlungen (Freitext / Links) / Generelle ergänzende Referenz(en) (Bsp: PuMed-link / PMID) Binding: LOINC Answer List LL1037-2 (extensible) | |
| Medikationsempfehlung | 0..1 | CodeableConcept | Medikationsempfehlung - Terminologie: LOINC Binding: LOINC Answer List LL4049-4 (required) | |
| Weiteres | 0..* | BackboneElement | WeiteresFormales | |
| BerichtID | 0..* | Identifier | Identifikationsnummer des Berichtes | |
| Anhaenge | 0..* | Reference(Media | DocumentReference) | Anhänge z.B. Tabellarische Übersicht Panel | |
| Berichtstatus | 1..1 | code | Berichtstatus (z.B. vorab oder final) Binding: DiagnosticReportStatus (required) | |
| DatumDesBerichts | 0..1 | instant | Datum des Berichtes /Zeitstempel (Bericht verfasst / freigegeben am) | |
| LaborInstitutionAnsprechpartner | 0..* | BackboneElement | LaborInstitutionAnsprechpartner | |
| Laborakkreditierungen | 0..* | CodeableConcept | Labor-Akkreditierungen | |
| NameAnsprechpartner | 0..* | HumanName | Name Ansprechpartner (Titel - Nachname - Zuname - Vorname) | |
| Adresse | 0..* | Address | Adresszeile 1 & 2, Angabe von Stadt, Postleitzahl, Land | |
| Kontakt | 0..* | ContactPoint | Angabe von Telefonnummer, Faxnummer und Email | |
| Documentation for this format | ||||
FHIR
FHIRsmith{
"resourceType": "StructureDefinition",
"id": "LogicalModelMolGen",
"meta": {
"extension": [
{
"url": "http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-license",
"valueCode": "CC-BY-4.0"
},
{
"extension": [
{
"url": "packageId",
"valueId": "de.medizininformatikinitiative.kerndatensatz.molgen"
},
{
"url": "version",
"valueString": "2027.0.0-ballot.rc3"
},
{
"url": "uri",
"valueUri": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen"
}
],
"url": "http://hl7.org/fhir/StructureDefinition/package-source"
}
],
"profile": [
"http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-shareablestructuredefinition",
"http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-publishablestructuredefinition"
]
},
"text": {
"status": "extensions",
"div": "<!-- snip (see above) -->"
},
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability",
"valueCode": "shareable"
},
{
"url": "http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability",
"valueCode": "publishable"
},
{
"url": "http://hl7.org/fhir/StructureDefinition/artifact-usage",
"valueMarkdown": "Use this logical model as the module-specific information model for the Medical Informatics Initiative core dataset. The model describes clinically or administratively relevant information in a domain-oriented form and provides a bridge between the conceptual content specification and the corresponding technical FHIR profiles. It is a pattern for describing the intended content model and is not intended to be exchanged as a concrete FHIR resource instance. Implementers should use it to understand the scope, semantics, and structure of the module before applying the related FHIR profiles and mappings."
},
{
"url": "http://hl7.org/fhir/StructureDefinition/artifact-versionPolicy",
"valueCodeableConcept": {
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/artifact-version-policy-codes",
"version": "3.0.0",
"code": "package",
"display": "Package"
}
]
}
},
{
"url": "http://hl7.org/fhir/StructureDefinition/resource-approvalDate",
"valueDate": "2026-09-15"
},
{
"url": "http://hl7.org/fhir/StructureDefinition/artifact-topic",
"valueCodeableConcept": {
"coding": [
{
"system": "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl",
"code": "C17457"
}
]
}
},
{
"url": "http://hl7.org/fhir/StructureDefinition/artifact-author",
"valueContactDetail": {
"telecom": [
{
"system": "email",
"value": "thomas.debertshaeuser@charite.de"
}
]
}
},
{
"url": "http://hl7.org/fhir/StructureDefinition/artifact-editor",
"valueContactDetail": {
"name": "Taskforce Core Data Set"
}
},
{
"url": "http://hl7.org/fhir/StructureDefinition/artifact-reviewer",
"valueContactDetail": {
"name": "Interoperability Working Group",
"telecom": [
{
"system": "url",
"value": "https://www.medizininformatik-initiative.de/en/collaboration/interoperability-working-group"
}
]
}
},
{
"url": "http://hl7.org/fhir/StructureDefinition/artifact-reviewer",
"valueContactDetail": {
"name": "National Steering Committee",
"telecom": [
{
"system": "url",
"value": "https://www.medizininformatik-initiative.de/en/collaboration/national-steering-committee"
}
]
}
},
{
"url": "http://hl7.org/fhir/StructureDefinition/artifact-endorser",
"valueContactDetail": {
"name": "Interoperability Working Group",
"telecom": [
{
"system": "url",
"value": "https://www.medizininformatik-initiative.de/en/collaboration/interoperability-working-group"
}
]
}
},
{
"url": "http://hl7.org/fhir/StructureDefinition/artifact-endorser",
"valueContactDetail": {
"name": "National Steering Committee",
"telecom": [
{
"system": "url",
"value": "https://www.medizininformatik-initiative.de/en/collaboration/national-steering-committee"
}
]
}
},
{
"url": "http://hl7.org/fhir/StructureDefinition/artifact-versionAlgorithm",
"valueCoding": {
"system": "http://hl7.org/fhir/version-algorithm",
"code": "semver",
"display": "SemVer"
}
},
{
"url": "http://hl7.org/fhir/StructureDefinition/resource-effectivePeriod",
"valuePeriod": {
"start": "2027"
}
}
],
"url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/LogicalModelMolGen",
"version": "2027.0.0-ballot.rc3",
"name": "MII_LM_MolGen_LogicalModel",
"title": "MII LM MolGen LogicalModel",
"status": "active",
"experimental": false,
"date": "2026-09-11T14:20:27+00:00",
"publisher": "Medizininformatik-Initiative",
"_publisher": {
"extension": [
{
"extension": [
{
"url": "lang",
"valueCode": "de"
},
{
"url": "content",
"valueString": "Medizininformatik-Initiative"
}
],
"url": "http://hl7.org/fhir/StructureDefinition/translation"
}
]
},
"contact": [
{
"name": "Medizininformatik-Initiative",
"telecom": [
{
"system": "url",
"value": "https://www.medizininformatik-initiative.de/"
},
{
"system": "email",
"value": "info@medizininformatik-initiative.de"
}
]
}
],
"description": "LogicalModel des MII Moduls Molekulargenetischer Befundbericht",
"jurisdiction": [
{
"coding": [
{
"system": "urn:iso:std:iso:3166",
"code": "DE",
"display": "Germany"
}
]
}
],
"fhirVersion": "4.0.1",
"mapping": [
{
"identity": "FHIR",
"name": "MolGen LogicalModel FHIR Mapping"
}
],
"kind": "logical",
"abstract": false,
"type": "https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/LogicalModelMolGen",
"baseDefinition": "http://hl7.org/fhir/StructureDefinition/Element",
"derivation": "specialization",
"snapshot": {
"extension": [
{
"url": "http://hl7.org/fhir/tools/StructureDefinition/snapshot-base-version",
"valueString": "4.0.1"
}
],
"element": [
{
"id": "LogicalModelMolGen",
"path": "LogicalModelMolGen",
"short": "MII LM MolGen LogicalModel",
"definition": "LogicalModel des MII Moduls Molekulargenetischer Befundbericht",
"min": 0,
"max": "*",
"base": {
"path": "Element",
"min": 0,
"max": "*"
},
"condition": [
"ele-1"
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier": false,
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "LogicalModelMolGen.id",
"path": "LogicalModelMolGen.id",
"representation": [
"xmlAttr"
],
"short": "Unique id for inter-element referencing",
"definition": "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min": 0,
"max": "1",
"base": {
"path": "Element.id",
"min": 0,
"max": "1"
},
"type": [
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl": "string"
}
],
"code": "http://hl7.org/fhirpath/System.String"
}
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "LogicalModelMolGen.extension",
"path": "LogicalModelMolGen.extension",
"slicing": {
"discriminator": [
{
"type": "value",
"path": "url"
}
],
"description": "Extensions are always sliced by (at least) url",
"rules": "open"
},
"short": "Additional content defined by implementations",
"definition": "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment": "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias": [
"extensions",
"user content"
],
"min": 0,
"max": "*",
"base": {
"path": "Element.extension",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Extension"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key": "ext-1",
"severity": "error",
"human": "Must have either extensions or value[x], not both",
"expression": "extension.exists() != value.exists()",
"xpath": "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source": "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "LogicalModelMolGen.Probeninformation",
"path": "LogicalModelMolGen.Probeninformation",
"short": "Probeninformation",
"definition": "Probeninformation",
"min": 1,
"max": "1",
"base": {
"path": "LogicalModelMolGen.Probeninformation",
"min": 1,
"max": "1"
},
"type": [
{
"code": "BackboneElement"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
}
]
},
{
"id": "LogicalModelMolGen.Probeninformation.id",
"path": "LogicalModelMolGen.Probeninformation.id",
"representation": [
"xmlAttr"
],
"short": "Unique id for inter-element referencing",
"definition": "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min": 0,
"max": "1",
"base": {
"path": "Element.id",
"min": 0,
"max": "1"
},
"type": [
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl": "string"
}
],
"code": "http://hl7.org/fhirpath/System.String"
}
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "LogicalModelMolGen.Probeninformation.extension",
"path": "LogicalModelMolGen.Probeninformation.extension",
"slicing": {
"discriminator": [
{
"type": "value",
"path": "url"
}
],
"description": "Extensions are always sliced by (at least) url",
"rules": "open"
},
"short": "Additional content defined by implementations",
"definition": "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment": "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias": [
"extensions",
"user content"
],
"min": 0,
"max": "*",
"base": {
"path": "Element.extension",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Extension"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key": "ext-1",
"severity": "error",
"human": "Must have either extensions or value[x], not both",
"expression": "extension.exists() != value.exists()",
"xpath": "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source": "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "LogicalModelMolGen.Probeninformation.modifierExtension",
"path": "LogicalModelMolGen.Probeninformation.modifierExtension",
"short": "Extensions that cannot be ignored even if unrecognized",
"definition": "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment": "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"requirements": "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).",
"alias": [
"extensions",
"user content",
"modifiers"
],
"min": 0,
"max": "*",
"base": {
"path": "BackboneElement.modifierExtension",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Extension"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key": "ext-1",
"severity": "error",
"human": "Must have either extensions or value[x], not both",
"expression": "extension.exists() != value.exists()",
"xpath": "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source": "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier": true,
"isModifierReason": "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them",
"isSummary": true,
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"id": "LogicalModelMolGen.Probeninformation.Patient",
"path": "LogicalModelMolGen.Probeninformation.Patient",
"short": "Patient",
"definition": "Abgebildet im KDS Modul Person",
"min": 1,
"max": "1",
"base": {
"path": "LogicalModelMolGen.Probeninformation.Patient",
"min": 1,
"max": "1"
},
"type": [
{
"code": "Reference",
"targetProfile": [
"http://hl7.org/fhir/StructureDefinition/Patient"
]
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Patient"
}
]
},
{
"id": "LogicalModelMolGen.Probeninformation.Probe",
"path": "LogicalModelMolGen.Probeninformation.Probe",
"short": "Probe",
"definition": "Abgebildet im KDS Modul Biobank",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Probeninformation.Probe",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Reference",
"targetProfile": [
"http://hl7.org/fhir/StructureDefinition/Specimen"
]
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Specimen"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung",
"path": "LogicalModelMolGen.Anforderung",
"short": "Anforderung",
"definition": "Anforderung",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Anforderung",
"min": 0,
"max": "*"
},
"type": [
{
"code": "BackboneElement"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "ServiceRequest"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.id",
"path": "LogicalModelMolGen.Anforderung.id",
"representation": [
"xmlAttr"
],
"short": "Unique id for inter-element referencing",
"definition": "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min": 0,
"max": "1",
"base": {
"path": "Element.id",
"min": 0,
"max": "1"
},
"type": [
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl": "string"
}
],
"code": "http://hl7.org/fhirpath/System.String"
}
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.extension",
"path": "LogicalModelMolGen.Anforderung.extension",
"slicing": {
"discriminator": [
{
"type": "value",
"path": "url"
}
],
"description": "Extensions are always sliced by (at least) url",
"rules": "open"
},
"short": "Additional content defined by implementations",
"definition": "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment": "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias": [
"extensions",
"user content"
],
"min": 0,
"max": "*",
"base": {
"path": "Element.extension",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Extension"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key": "ext-1",
"severity": "error",
"human": "Must have either extensions or value[x], not both",
"expression": "extension.exists() != value.exists()",
"xpath": "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source": "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.modifierExtension",
"path": "LogicalModelMolGen.Anforderung.modifierExtension",
"short": "Extensions that cannot be ignored even if unrecognized",
"definition": "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment": "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"requirements": "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).",
"alias": [
"extensions",
"user content",
"modifiers"
],
"min": 0,
"max": "*",
"base": {
"path": "BackboneElement.modifierExtension",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Extension"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key": "ext-1",
"severity": "error",
"human": "Must have either extensions or value[x], not both",
"expression": "extension.exists() != value.exists()",
"xpath": "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source": "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier": true,
"isModifierReason": "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them",
"isSummary": true,
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.Indikation",
"path": "LogicalModelMolGen.Anforderung.Indikation",
"short": "Indikation",
"definition": "Indikation",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Anforderung.Indikation",
"min": 0,
"max": "*"
},
"type": [
{
"code": "BackboneElement"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.Indikation.id",
"path": "LogicalModelMolGen.Anforderung.Indikation.id",
"representation": [
"xmlAttr"
],
"short": "Unique id for inter-element referencing",
"definition": "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min": 0,
"max": "1",
"base": {
"path": "Element.id",
"min": 0,
"max": "1"
},
"type": [
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl": "string"
}
],
"code": "http://hl7.org/fhirpath/System.String"
}
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.Indikation.extension",
"path": "LogicalModelMolGen.Anforderung.Indikation.extension",
"slicing": {
"discriminator": [
{
"type": "value",
"path": "url"
}
],
"description": "Extensions are always sliced by (at least) url",
"rules": "open"
},
"short": "Additional content defined by implementations",
"definition": "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment": "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias": [
"extensions",
"user content"
],
"min": 0,
"max": "*",
"base": {
"path": "Element.extension",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Extension"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key": "ext-1",
"severity": "error",
"human": "Must have either extensions or value[x], not both",
"expression": "extension.exists() != value.exists()",
"xpath": "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source": "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.Indikation.modifierExtension",
"path": "LogicalModelMolGen.Anforderung.Indikation.modifierExtension",
"short": "Extensions that cannot be ignored even if unrecognized",
"definition": "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment": "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"requirements": "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).",
"alias": [
"extensions",
"user content",
"modifiers"
],
"min": 0,
"max": "*",
"base": {
"path": "BackboneElement.modifierExtension",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Extension"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key": "ext-1",
"severity": "error",
"human": "Must have either extensions or value[x], not both",
"expression": "extension.exists() != value.exists()",
"xpath": "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source": "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier": true,
"isModifierReason": "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them",
"isSummary": true,
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.Indikation.Indikation",
"path": "LogicalModelMolGen.Anforderung.Indikation.Indikation",
"short": "Indikation",
"definition": "Indikation; (mögliche) Erkrankung Terminologien: ICD-10, SNOMED, Orpha, HPO - Bsp.: Verdacht auf… / Ausschluss von… / Mögliche Therapie für ...",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Anforderung.Indikation.Indikation",
"min": 0,
"max": "*"
},
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "ServiceRequest.reasonCode"
},
{
"identity": "FHIR",
"map": "ServiceRequest.reasonReference"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.Indikation.Gesundheitszustand",
"path": "LogicalModelMolGen.Anforderung.Indikation.Gesundheitszustand",
"short": "Gesundheitszustand",
"definition": "Aktueller Gesundheitszustand; Angabe aktueller Beschwerden oder nachgewiesener Erkrankung - Terminologie: HPO",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Anforderung.Indikation.Gesundheitszustand",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Reference",
"targetProfile": [
"http://hl7.org/fhir/StructureDefinition/Condition"
]
}
],
"mapping": [
{
"identity": "FHIR",
"map": "ServiceRequest.supportingInfo"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.Indikation.KrankengeschichteFamilie",
"path": "LogicalModelMolGen.Anforderung.Indikation.KrankengeschichteFamilie",
"short": "Krankengeschichte Familie",
"definition": "Krankengeschichte Familie",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Anforderung.Indikation.KrankengeschichteFamilie",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Reference",
"targetProfile": [
"http://hl7.org/fhir/StructureDefinition/FamilyMemberHistory"
]
}
],
"mapping": [
{
"identity": "FHIR",
"map": "FamilyMemberHistory"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.Indikation.Anlagetraeger",
"path": "LogicalModelMolGen.Anforderung.Indikation.Anlagetraeger",
"short": "Anlageträger",
"definition": "Anlageträgerstatus der Familie - Ist gefordert wenn Verwandte des Index-Falles ebenfalls sequenziert wurden - Terminologie: PED",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Anforderung.Indikation.Anlagetraeger",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Reference",
"targetProfile": [
"http://hl7.org/fhir/StructureDefinition/FamilyMemberHistory",
"http://hl7.org/fhir/StructureDefinition/Condition",
"http://hl7.org/fhir/StructureDefinition/Observation"
]
}
],
"mapping": [
{
"identity": "FHIR",
"map": "FamilyMemberHistory"
},
{
"identity": "FHIR",
"map": "Condition"
},
{
"identity": "FHIR",
"map": "Observation"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.Indikation.RelevanteVorergebnisse",
"path": "LogicalModelMolGen.Anforderung.Indikation.RelevanteVorergebnisse",
"short": "Relevante Vorergebnisse",
"definition": "Angabe zuvor durchgeführter relevanter Tests (inklusive z.B. Methode, getestete Gene, und Ergebnisse)",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Anforderung.Indikation.RelevanteVorergebnisse",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Reference",
"targetProfile": [
"http://hl7.org/fhir/StructureDefinition/Condition",
"http://hl7.org/fhir/StructureDefinition/Observation",
"http://hl7.org/fhir/StructureDefinition/DiagnosticReport",
"http://hl7.org/fhir/StructureDefinition/DocumentReference"
]
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Condition"
},
{
"identity": "FHIR",
"map": "Observation"
},
{
"identity": "FHIR",
"map": "DiagnosticReport"
},
{
"identity": "FHIR",
"map": "DocumentReference"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.Anforderer",
"path": "LogicalModelMolGen.Anforderung.Anforderer",
"short": "Anforderer",
"definition": "Informationen zur Person, die die molekulargenetischen Untersuchungen in Auftrag gibt",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Anforderung.Anforderer",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Reference",
"targetProfile": [
"http://hl7.org/fhir/StructureDefinition/Practitioner",
"http://hl7.org/fhir/StructureDefinition/PractitionerRole",
"http://hl7.org/fhir/StructureDefinition/Organization",
"http://hl7.org/fhir/StructureDefinition/Patient",
"http://hl7.org/fhir/StructureDefinition/RelatedPerson",
"http://hl7.org/fhir/StructureDefinition/Device"
]
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key": "ref-1",
"severity": "error",
"human": "SHALL have a contained resource if a local reference is provided",
"expression": "reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))",
"xpath": "not(starts-with(f:reference/@value, '#')) or exists(ancestor::*[self::f:entry or self::f:parameter]/f:resource/f:*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')]|/*/f:contained/f:*[f:id/@value=substring-after(current()/f:reference/@value, '#')])"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Practitioner"
},
{
"identity": "FHIR",
"map": "PractitionerRole"
},
{
"identity": "FHIR",
"map": "Organization"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.Anforderer.id",
"path": "LogicalModelMolGen.Anforderung.Anforderer.id",
"representation": [
"xmlAttr"
],
"short": "Unique id for inter-element referencing",
"definition": "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min": 0,
"max": "1",
"base": {
"path": "Element.id",
"min": 0,
"max": "1"
},
"type": [
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl": "string"
}
],
"code": "http://hl7.org/fhirpath/System.String"
}
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.Anforderer.extension",
"path": "LogicalModelMolGen.Anforderung.Anforderer.extension",
"slicing": {
"discriminator": [
{
"type": "value",
"path": "url"
}
],
"description": "Extensions are always sliced by (at least) url",
"rules": "open"
},
"short": "Additional content defined by implementations",
"definition": "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment": "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias": [
"extensions",
"user content"
],
"min": 0,
"max": "*",
"base": {
"path": "Element.extension",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Extension"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key": "ext-1",
"severity": "error",
"human": "Must have either extensions or value[x], not both",
"expression": "extension.exists() != value.exists()",
"xpath": "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source": "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.Anforderer.reference",
"path": "LogicalModelMolGen.Anforderung.Anforderer.reference",
"short": "Literal reference, Relative, internal or absolute URL",
"definition": "A reference to a location at which the other resource is found. The reference may be a relative reference, in which case it is relative to the service base URL, or an absolute URL that resolves to the location where the resource is found. The reference may be version specific or not. If the reference is not to a FHIR RESTful server, then it should be assumed to be version specific. Internal fragment references (start with '#') refer to contained resources.",
"comment": "Using absolute URLs provides a stable scalable approach suitable for a cloud/web context, while using relative/logical references provides a flexible approach suitable for use when trading across closed eco-system boundaries. Absolute URLs do not need to point to a FHIR RESTful server, though this is the preferred approach. If the URL conforms to the structure \"/[type]/[id]\" then it should be assumed that the reference is to a FHIR RESTful server.",
"min": 0,
"max": "1",
"base": {
"path": "Reference.reference",
"min": 0,
"max": "1"
},
"type": [
{
"code": "string"
}
],
"condition": [
"ref-1"
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier": false,
"isSummary": true,
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.Anforderer.type",
"path": "LogicalModelMolGen.Anforderung.Anforderer.type",
"short": "Type the reference refers to (e.g. \"Patient\")",
"definition": "The expected type of the target of the reference. If both Reference.type and Reference.reference are populated and Reference.reference is a FHIR URL, both SHALL be consistent.\n\nThe type is the Canonical URL of Resource Definition that is the type this reference refers to. References are URLs that are relative to http://hl7.org/fhir/StructureDefinition/ e.g. \"Patient\" is a reference to http://hl7.org/fhir/StructureDefinition/Patient. Absolute URLs are only allowed for logical models (and can only be used in references in logical models, not resources).",
"comment": "This element is used to indicate the type of the target of the reference. This may be used which ever of the other elements are populated (or not). In some cases, the type of the target may be determined by inspection of the reference (e.g. a RESTful URL) or by resolving the target of the reference; if both the type and a reference is provided, the reference SHALL resolve to a resource of the same type as that specified.",
"min": 0,
"max": "1",
"base": {
"path": "Reference.type",
"min": 0,
"max": "1"
},
"type": [
{
"code": "uri"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier": false,
"isSummary": true,
"binding": {
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/elementdefinition-bindingName",
"valueString": "FHIRResourceTypeExt"
}
],
"strength": "extensible",
"description": "Aa resource (or, for logical models, the URI of the logical model).",
"valueSet": "http://hl7.org/fhir/ValueSet/resource-types|4.0.1"
},
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.Anforderer.identifier",
"path": "LogicalModelMolGen.Anforderung.Anforderer.identifier",
"short": "Logical reference, when literal reference is not known",
"definition": "An identifier for the target resource. This is used when there is no way to reference the other resource directly, either because the entity it represents is not available through a FHIR server, or because there is no way for the author of the resource to convert a known identifier to an actual location. There is no requirement that a Reference.identifier point to something that is actually exposed as a FHIR instance, but it SHALL point to a business concept that would be expected to be exposed as a FHIR instance, and that instance would need to be of a FHIR resource type allowed by the reference.",
"comment": "When an identifier is provided in place of a reference, any system processing the reference will only be able to resolve the identifier to a reference if it understands the business context in which the identifier is used. Sometimes this is global (e.g. a national identifier) but often it is not. For this reason, none of the useful mechanisms described for working with references (e.g. chaining, includes) are possible, nor should servers be expected to be able resolve the reference. Servers may accept an identifier based reference untouched, resolve it, and/or reject it - see CapabilityStatement.rest.resource.referencePolicy. \n\nWhen both an identifier and a literal reference are provided, the literal reference is preferred. Applications processing the resource are allowed - but not required - to check that the identifier matches the literal reference\n\nApplications converting a logical reference to a literal reference may choose to leave the logical reference present, or remove it.\n\nReference is intended to point to a structure that can potentially be expressed as a FHIR resource, though there is no need for it to exist as an actual FHIR resource instance - except in as much as an application wishes to actual find the target of the reference. The content referred to be the identifier must meet the logical constraints implied by any limitations on what resource types are permitted for the reference. For example, it would not be legitimate to send the identifier for a drug prescription if the type were Reference(Observation|DiagnosticReport). One of the use-cases for Reference.identifier is the situation where no FHIR representation exists (where the type is Reference (Any).",
"min": 0,
"max": "1",
"base": {
"path": "Reference.identifier",
"min": 0,
"max": "1"
},
"type": [
{
"code": "Identifier"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier": false,
"isSummary": true,
"mapping": [
{
"identity": "rim",
"map": ".identifier"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.Anforderer.display",
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/elementdefinition-translatable",
"valueBoolean": true
}
],
"path": "LogicalModelMolGen.Anforderung.Anforderer.display",
"short": "Text alternative for the resource",
"definition": "Plain text narrative that identifies the resource in addition to the resource reference.",
"comment": "This is generally not the same as the Resource.text of the referenced resource. The purpose is to identify what's being referenced, not to fully describe it.",
"min": 0,
"max": "1",
"base": {
"path": "Reference.display",
"min": 0,
"max": "1"
},
"type": [
{
"code": "string"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"isModifier": false,
"isSummary": true,
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.Anforderer.ZuTestendeGene",
"path": "LogicalModelMolGen.Anforderung.Anforderer.ZuTestendeGene",
"short": "Zu testende Gene",
"definition": "Angabe der zu testenden Gene",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Anforderung.Anforderer.ZuTestendeGene",
"min": 0,
"max": "*"
},
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "ServiceRequest.code"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.Anforderer.EinheitlicherBewertungsmassstab",
"path": "LogicalModelMolGen.Anforderung.Anforderer.EinheitlicherBewertungsmassstab",
"short": "Einheitlicher Bewertungsmaßstab",
"definition": "Der Einheitliche Bewertungsmaßstab definiert den Inhalt der abrechnungsfähigen vertragsärztlichen Leistungen Einheitlicher Bewertungsmaßstab (EBM): Angabe der Ziffern",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Anforderung.Anforderer.EinheitlicherBewertungsmassstab",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Reference",
"targetProfile": [
"http://hl7.org/fhir/StructureDefinition/ChargeItem"
]
}
],
"mapping": [
{
"identity": "FHIR",
"map": "ChargeItem"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.Anforderer.Anforderungstext",
"path": "LogicalModelMolGen.Anforderung.Anforderer.Anforderungstext",
"short": "Anforderungstext",
"definition": "Freitext für die Angabe von entweder originaler, unveränderter Anforderungstext, oder alternativ: zusätzliche Anforderungen oder angeforderter Test",
"min": 0,
"max": "1",
"base": {
"path": "LogicalModelMolGen.Anforderung.Anforderer.Anforderungstext",
"min": 0,
"max": "1"
},
"type": [
{
"code": "string"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "ServiceRequest.code.text"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.DatumDerAnforderung",
"path": "LogicalModelMolGen.Anforderung.DatumDerAnforderung",
"short": "Datum der Anforderung",
"definition": "Angabe des Datums der Anforderung",
"min": 0,
"max": "1",
"base": {
"path": "LogicalModelMolGen.Anforderung.DatumDerAnforderung",
"min": 0,
"max": "1"
},
"type": [
{
"code": "dateTime"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "ServiceRequest.authoredOn"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.Bemerkungen",
"path": "LogicalModelMolGen.Anforderung.Bemerkungen",
"short": "Bemerkungen",
"definition": "Bemerkungen",
"min": 0,
"max": "1",
"base": {
"path": "LogicalModelMolGen.Anforderung.Bemerkungen",
"min": 0,
"max": "1"
},
"type": [
{
"code": "Annotation"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "ServiceRequest.note"
}
]
},
{
"id": "LogicalModelMolGen.Methoden",
"path": "LogicalModelMolGen.Methoden",
"short": "Methoden",
"definition": "Methoden",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Methoden",
"min": 0,
"max": "*"
},
"type": [
{
"code": "BackboneElement"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
}
]
},
{
"id": "LogicalModelMolGen.Methoden.id",
"path": "LogicalModelMolGen.Methoden.id",
"representation": [
"xmlAttr"
],
"short": "Unique id for inter-element referencing",
"definition": "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min": 0,
"max": "1",
"base": {
"path": "Element.id",
"min": 0,
"max": "1"
},
"type": [
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl": "string"
}
],
"code": "http://hl7.org/fhirpath/System.String"
}
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "LogicalModelMolGen.Methoden.extension",
"path": "LogicalModelMolGen.Methoden.extension",
"slicing": {
"discriminator": [
{
"type": "value",
"path": "url"
}
],
"description": "Extensions are always sliced by (at least) url",
"rules": "open"
},
"short": "Additional content defined by implementations",
"definition": "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment": "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias": [
"extensions",
"user content"
],
"min": 0,
"max": "*",
"base": {
"path": "Element.extension",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Extension"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key": "ext-1",
"severity": "error",
"human": "Must have either extensions or value[x], not both",
"expression": "extension.exists() != value.exists()",
"xpath": "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source": "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "LogicalModelMolGen.Methoden.modifierExtension",
"path": "LogicalModelMolGen.Methoden.modifierExtension",
"short": "Extensions that cannot be ignored even if unrecognized",
"definition": "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment": "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"requirements": "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).",
"alias": [
"extensions",
"user content",
"modifiers"
],
"min": 0,
"max": "*",
"base": {
"path": "BackboneElement.modifierExtension",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Extension"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key": "ext-1",
"severity": "error",
"human": "Must have either extensions or value[x], not both",
"expression": "extension.exists() != value.exists()",
"xpath": "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source": "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier": true,
"isModifierReason": "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them",
"isSummary": true,
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"id": "LogicalModelMolGen.Methoden.Methode",
"path": "LogicalModelMolGen.Methoden.Methode",
"short": "Methode",
"definition": "Methode und Referenz zur Methode - beinhaltet alle sequenzbasierenden Analytik-Methoden, während nicht sequenzbasierende Aufarbeitungsmethoden in das Modul Pathologie zuzuordnen sind.",
"min": 0,
"max": "1",
"base": {
"path": "LogicalModelMolGen.Methoden.Methode",
"min": 0,
"max": "1"
},
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.method"
}
]
},
{
"id": "LogicalModelMolGen.Methoden.RelevanteParameter",
"path": "LogicalModelMolGen.Methoden.RelevanteParameter",
"short": "Relevante Parameter",
"definition": "Relevante Parameter (Angabe von Primer / Zyklenanzahl, Panel)",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Methoden.RelevanteParameter",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Reference",
"targetProfile": [
"http://hl7.org/fhir/StructureDefinition/Observation",
"http://hl7.org/fhir/StructureDefinition/DocumentReference"
]
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation"
},
{
"identity": "FHIR",
"map": "DocumentReference"
}
]
},
{
"id": "LogicalModelMolGen.Methoden.GeraeteSoftwareKits",
"path": "LogicalModelMolGen.Methoden.GeraeteSoftwareKits",
"short": "Geräte / Software / Kits",
"definition": "Angaben verwendeter Geräte / Software / Kits inklusive Target enrichment für die Analyse (u.U. Angabe von Hersteller; Versionsnummer)",
"min": 0,
"max": "1",
"base": {
"path": "LogicalModelMolGen.Methoden.GeraeteSoftwareKits",
"min": 0,
"max": "1"
},
"type": [
{
"code": "Reference",
"targetProfile": [
"http://hl7.org/fhir/StructureDefinition/Device"
]
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Device"
}
]
},
{
"id": "LogicalModelMolGen.Methoden.GetesteteGene",
"path": "LogicalModelMolGen.Methoden.GetesteteGene",
"short": "Getestete Gene",
"definition": "Angabe der getesteten Gene",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Methoden.GetesteteGene",
"min": 0,
"max": "*"
},
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:gene-studied"
}
]
},
{
"id": "LogicalModelMolGen.Methoden.Referenzsequenz",
"path": "LogicalModelMolGen.Methoden.Referenzsequenz",
"short": "Referenzsequenz",
"definition": "Transkript Referenzsequenz (Ensembl und RefSeq)",
"min": 0,
"max": "1",
"base": {
"path": "LogicalModelMolGen.Methoden.Referenzsequenz",
"min": 0,
"max": "1"
},
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:transcript-ref-seq"
}
]
},
{
"id": "LogicalModelMolGen.Methoden.ReadDepthCoverage",
"path": "LogicalModelMolGen.Methoden.ReadDepthCoverage",
"short": "Read depth/Coverage",
"definition": "Anzahl der Ablesungen eines bestimmten Nukleotids im Genom in einem Experiment",
"min": 0,
"max": "1",
"base": {
"path": "LogicalModelMolGen.Methoden.ReadDepthCoverage",
"min": 0,
"max": "1"
},
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:allelic-read-depth"
}
]
},
{
"id": "LogicalModelMolGen.Methoden.IntronSpanningIVS",
"path": "LogicalModelMolGen.Methoden.IntronSpanningIVS",
"short": "Intron spanning / IVS",
"definition": "Intron spanning oder IVS (InterVening Sequence, z.B. Introns)",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Methoden.IntronSpanningIVS",
"min": 0,
"max": "*"
},
"type": [
{
"code": "string"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:dna-region"
}
]
},
{
"id": "LogicalModelMolGen.Methoden.StartUndEndnukleotid",
"path": "LogicalModelMolGen.Methoden.StartUndEndnukleotid",
"short": "Start- und Endnukleotid",
"definition": "Start- und Endnukleotid",
"min": 0,
"max": "1",
"base": {
"path": "LogicalModelMolGen.Methoden.StartUndEndnukleotid",
"min": 0,
"max": "1"
},
"type": [
{
"code": "Range"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:exact-start-end"
}
]
},
{
"id": "LogicalModelMolGen.Methoden.SensitivitaetDetektionslimit",
"path": "LogicalModelMolGen.Methoden.SensitivitaetDetektionslimit",
"short": "Sensitivität/Detektionslimit",
"definition": "Sensitivität/Detektionslimit",
"min": 0,
"max": "1",
"base": {
"path": "LogicalModelMolGen.Methoden.SensitivitaetDetektionslimit",
"min": 0,
"max": "1"
},
"type": [
{
"code": "Quantity"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:detection-limit"
}
]
},
{
"id": "LogicalModelMolGen.Methoden.LimitierungenBemerkungen",
"path": "LogicalModelMolGen.Methoden.LimitierungenBemerkungen",
"short": "Limitierungen/Bemerkungen",
"definition": "Limitierungen/Bemerkungen, Freitext",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Methoden.LimitierungenBemerkungen",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Annotation"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.note"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse",
"path": "LogicalModelMolGen.Ergebnisse",
"short": "Ergebnisse",
"definition": "Ergebnisse",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Ergebnisse",
"min": 0,
"max": "*"
},
"type": [
{
"code": "BackboneElement"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.id",
"path": "LogicalModelMolGen.Ergebnisse.id",
"representation": [
"xmlAttr"
],
"short": "Unique id for inter-element referencing",
"definition": "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min": 0,
"max": "1",
"base": {
"path": "Element.id",
"min": 0,
"max": "1"
},
"type": [
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl": "string"
}
],
"code": "http://hl7.org/fhirpath/System.String"
}
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.extension",
"path": "LogicalModelMolGen.Ergebnisse.extension",
"slicing": {
"discriminator": [
{
"type": "value",
"path": "url"
}
],
"description": "Extensions are always sliced by (at least) url",
"rules": "open"
},
"short": "Additional content defined by implementations",
"definition": "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment": "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias": [
"extensions",
"user content"
],
"min": 0,
"max": "*",
"base": {
"path": "Element.extension",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Extension"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key": "ext-1",
"severity": "error",
"human": "Must have either extensions or value[x], not both",
"expression": "extension.exists() != value.exists()",
"xpath": "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source": "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.modifierExtension",
"path": "LogicalModelMolGen.Ergebnisse.modifierExtension",
"short": "Extensions that cannot be ignored even if unrecognized",
"definition": "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment": "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"requirements": "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).",
"alias": [
"extensions",
"user content",
"modifiers"
],
"min": 0,
"max": "*",
"base": {
"path": "BackboneElement.modifierExtension",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Extension"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key": "ext-1",
"severity": "error",
"human": "Must have either extensions or value[x], not both",
"expression": "extension.exists() != value.exists()",
"xpath": "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source": "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier": true,
"isModifierReason": "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them",
"isSummary": true,
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Zusammenfassung",
"path": "LogicalModelMolGen.Ergebnisse.Zusammenfassung",
"short": "Zusammenfassung",
"definition": "Zusammenfassung",
"min": 0,
"max": "1",
"base": {
"path": "LogicalModelMolGen.Ergebnisse.Zusammenfassung",
"min": 0,
"max": "1"
},
"type": [
{
"code": "CodeableConcept"
}
],
"binding": {
"strength": "required",
"valueSet": "http://loinc.org/vs/LL541-4"
},
"mapping": [
{
"identity": "FHIR",
"map": "Observation.valueCodeableConcept"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen",
"short": "Veränderungen",
"definition": "Veränderungen",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen",
"min": 0,
"max": "*"
},
"type": [
{
"code": "BackboneElement"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.id",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.id",
"representation": [
"xmlAttr"
],
"short": "Unique id for inter-element referencing",
"definition": "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min": 0,
"max": "1",
"base": {
"path": "Element.id",
"min": 0,
"max": "1"
},
"type": [
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl": "string"
}
],
"code": "http://hl7.org/fhirpath/System.String"
}
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.extension",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.extension",
"slicing": {
"discriminator": [
{
"type": "value",
"path": "url"
}
],
"description": "Extensions are always sliced by (at least) url",
"rules": "open"
},
"short": "Additional content defined by implementations",
"definition": "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment": "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias": [
"extensions",
"user content"
],
"min": 0,
"max": "*",
"base": {
"path": "Element.extension",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Extension"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key": "ext-1",
"severity": "error",
"human": "Must have either extensions or value[x], not both",
"expression": "extension.exists() != value.exists()",
"xpath": "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source": "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.modifierExtension",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.modifierExtension",
"short": "Extensions that cannot be ignored even if unrecognized",
"definition": "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment": "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"requirements": "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).",
"alias": [
"extensions",
"user content",
"modifiers"
],
"min": 0,
"max": "*",
"base": {
"path": "BackboneElement.modifierExtension",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Extension"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key": "ext-1",
"severity": "error",
"human": "Must have either extensions or value[x], not both",
"expression": "extension.exists() != value.exists()",
"xpath": "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source": "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier": true,
"isModifierReason": "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them",
"isSummary": true,
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.VeraenderungProteinebene",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.VeraenderungProteinebene",
"short": "Veränderungen auf Proteinebene: Terminologie: HGVS - Angabe möglich von: Formal Protein (pHGVS) 3-letter code: Bsp.: p.(Cys47Tyr), p.(Val600Glu) - Formal Protein (pHGVS) 1-letter code: Bsp.: p.(C47Y) - Trivialname (Kurzform): Bsp.: C47Y",
"definition": "Veränderungen auf Proteinebene: Terminologie: HGVS - Angabe möglich von: Formal Protein (pHGVS) 3-letter code: Bsp.: p.(Cys47Tyr), p.(Val600Glu) - Formal Protein (pHGVS) 1-letter code: Bsp.: p.(C47Y) - Trivialname (Kurzform): Bsp.: C47Y",
"min": 0,
"max": "1",
"base": {
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.VeraenderungProteinebene",
"min": 0,
"max": "1"
},
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:protein-hgvs"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.DNAVeraenderungen",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.DNAVeraenderungen",
"short": "Veränderung auf DNA-Level, formale Beschreibung mittels cHGVS",
"definition": "Veränderung auf DNA-Level, formale Beschreibung mittels cHGVS",
"min": 0,
"max": "1",
"base": {
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.DNAVeraenderungen",
"min": 0,
"max": "1"
},
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:coding-hgvs"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.GenomischeDNAVeraenderung",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.GenomischeDNAVeraenderung",
"short": "Genomische DNA Veränderung gHGVS",
"definition": "Genomische DNA Veränderung gHGVS",
"min": 0,
"max": "1",
"base": {
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.GenomischeDNAVeraenderung",
"min": 0,
"max": "1"
},
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:genomic-hgvs"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.TranskriptID",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.TranskriptID",
"short": "Transkript- ID (Code) - Terminologie: NCBI, Ensembl, GTR, LRG",
"definition": "Transkript- ID (Code) - Terminologie: NCBI, Ensembl, GTR, LRG",
"min": 0,
"max": "1",
"base": {
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.TranskriptID",
"min": 0,
"max": "1"
},
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:transcript-ref-seq"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.Referenzgenom",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.Referenzgenom",
"short": "Referenzgenom - Der Genome Build hat zwei Formate, entweder hg und eine Nummer (hg18, hg19, hg38) oder GRCh/NCBI und eine Nummer (NCBI35, NCBI36, GRCh37, GRCh38).",
"definition": "Referenzgenom - Der Genome Build hat zwei Formate, entweder hg und eine Nummer (hg18, hg19, hg38) oder GRCh/NCBI und eine Nummer (NCBI35, NCBI36, GRCh37, GRCh38).",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.Referenzgenom",
"min": 0,
"max": "*"
},
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:reference-sequence-assembly"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.RefAllel",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.RefAllel",
"short": "Referenzallel",
"definition": "Referenzallel",
"min": 0,
"max": "1",
"base": {
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.RefAllel",
"min": 0,
"max": "1"
},
"type": [
{
"code": "string"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:ref-allele"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.AltAllel",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.AltAllel",
"short": "Jedes alternative (ALT) Allel an dem untersuchten Lokus",
"definition": "Jedes alternative (ALT) Allel an dem untersuchten Lokus",
"min": 0,
"max": "1",
"base": {
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.AltAllel",
"min": 0,
"max": "1"
},
"type": [
{
"code": "string"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:alt-allele"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.DNAMutationstyp",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.DNAMutationstyp",
"short": "Varianten-Typ bzw. Mutationsart - Terminologie: Sequence Ontology (include codes from http://sequenceontology.org where concept IsA SO:0002072)",
"definition": "Varianten-Typ bzw. Mutationsart - Terminologie: Sequence Ontology (include codes from http://sequenceontology.org where concept IsA SO:0002072)",
"min": 0,
"max": "1",
"base": {
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.DNAMutationstyp",
"min": 0,
"max": "1"
},
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:coding-change-type"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.MutationskonsequenzFunktionell",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.MutationskonsequenzFunktionell",
"short": "Mutationskonsequenz (funktionell) - Terminologie: Sequence Ontology",
"definition": "Mutationskonsequenz (funktionell) - Terminologie: Sequence Ontology",
"min": 0,
"max": "1",
"base": {
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.MutationskonsequenzFunktionell",
"min": 0,
"max": "1"
},
"type": [
{
"code": "CodeableConcept"
}
],
"binding": {
"strength": "required",
"valueSet": "http://loinc.org/vs/LL380-7"
},
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:amino-acid-change-type"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.ProbenAllelfrequenz",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.ProbenAllelfrequenz",
"short": "Allelfrequenz",
"definition": "Allelfrequenz",
"min": 0,
"max": "1",
"base": {
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.ProbenAllelfrequenz",
"min": 0,
"max": "1"
},
"type": [
{
"code": "Quantity"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:sample-allelic-frequency"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.UrsprungDerVariante",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.UrsprungDerVariante",
"short": "Ursprung der Variante",
"definition": "Ursprung der Variante",
"min": 0,
"max": "1",
"base": {
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.UrsprungDerVariante",
"min": 0,
"max": "1"
},
"type": [
{
"code": "CodeableConcept"
}
],
"binding": {
"strength": "required",
"valueSet": "http://loinc.org/vs/LL378-1"
},
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:genomic-source-class"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.VariantenID",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.VariantenID",
"short": "Varianten ID; eindeutige Beschreibung der Variante - Terminologie: ClinVar, HGMD, COSMIC, PMID, dbSNP",
"definition": "Varianten ID; eindeutige Beschreibung der Variante - Terminologie: ClinVar, HGMD, COSMIC, PMID, dbSNP",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.VariantenID",
"min": 0,
"max": "*"
},
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:variation-code"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.Chromosom",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.Chromosom",
"short": "Chromosom",
"definition": "Chromosom",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.Chromosom",
"min": 0,
"max": "*"
},
"type": [
{
"code": "CodeableConcept"
}
],
"binding": {
"strength": "required",
"valueSet": "http://loinc.org/vs/LL2938-0"
},
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:chromosome-identifier"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.Exon",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.Exon",
"short": "Exon",
"definition": "Exon",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.Exon",
"min": 0,
"max": "*"
},
"type": [
{
"code": "string"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:dna-region"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.ZytogenetischeLokalisierung",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.ZytogenetischeLokalisierung",
"short": "Variante - Terminologie: ISCN",
"definition": "Variante - Terminologie: ISCN",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.ZytogenetischeLokalisierung",
"min": 0,
"max": "*"
},
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:cytogenetic-location"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.Kopienzahlvariationen",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.Kopienzahlvariationen",
"short": "Kopienzahlvariationen der betroffenen Gene",
"definition": "Kopienzahlvariationen der betroffenen Gene",
"min": 0,
"max": "1",
"base": {
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.Kopienzahlvariationen",
"min": 0,
"max": "1"
},
"type": [
{
"code": "Quantity"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:copy-number"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Mutationslast",
"path": "LogicalModelMolGen.Ergebnisse.Mutationslast",
"short": "Somat. Mutationen / Mutationslast",
"definition": "Somat. Mutationen / Mutationslast",
"min": 0,
"max": "1",
"base": {
"path": "LogicalModelMolGen.Ergebnisse.Mutationslast",
"min": 0,
"max": "1"
},
"type": [
{
"code": "Quantity"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.valueQuantity"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Mikrosatelliteninstabilitaet",
"path": "LogicalModelMolGen.Ergebnisse.Mikrosatelliteninstabilitaet",
"short": "Mikrosatelliteninstabilität",
"definition": "Mikrosatelliteninstabilität",
"min": 0,
"max": "1",
"base": {
"path": "LogicalModelMolGen.Ergebnisse.Mikrosatelliteninstabilitaet",
"min": 0,
"max": "1"
},
"type": [
{
"code": "CodeableConcept"
}
],
"binding": {
"strength": "extensible",
"valueSet": "http://loinc.org/vs/LL3994-2"
},
"mapping": [
{
"identity": "FHIR",
"map": "Observation.valueCodeableConcept"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Daten",
"path": "LogicalModelMolGen.Ergebnisse.Daten",
"short": "Rohdaten / Link auf die Datei/Dateien",
"definition": "Rohdaten / Link auf die Datei/Dateien",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Ergebnisse.Daten",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Reference",
"targetProfile": [
"http://hl7.org/fhir/StructureDefinition/DocumentReference"
]
}
],
"mapping": [
{
"identity": "FHIR",
"map": "DocumentReference"
}
]
},
{
"id": "LogicalModelMolGen.Interpretation",
"path": "LogicalModelMolGen.Interpretation",
"short": "Interpretation",
"definition": "Interpretation",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Interpretation",
"min": 0,
"max": "*"
},
"type": [
{
"code": "BackboneElement"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
}
]
},
{
"id": "LogicalModelMolGen.Interpretation.id",
"path": "LogicalModelMolGen.Interpretation.id",
"representation": [
"xmlAttr"
],
"short": "Unique id for inter-element referencing",
"definition": "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min": 0,
"max": "1",
"base": {
"path": "Element.id",
"min": 0,
"max": "1"
},
"type": [
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl": "string"
}
],
"code": "http://hl7.org/fhirpath/System.String"
}
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "LogicalModelMolGen.Interpretation.extension",
"path": "LogicalModelMolGen.Interpretation.extension",
"slicing": {
"discriminator": [
{
"type": "value",
"path": "url"
}
],
"description": "Extensions are always sliced by (at least) url",
"rules": "open"
},
"short": "Additional content defined by implementations",
"definition": "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment": "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias": [
"extensions",
"user content"
],
"min": 0,
"max": "*",
"base": {
"path": "Element.extension",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Extension"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key": "ext-1",
"severity": "error",
"human": "Must have either extensions or value[x], not both",
"expression": "extension.exists() != value.exists()",
"xpath": "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source": "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "LogicalModelMolGen.Interpretation.modifierExtension",
"path": "LogicalModelMolGen.Interpretation.modifierExtension",
"short": "Extensions that cannot be ignored even if unrecognized",
"definition": "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment": "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"requirements": "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).",
"alias": [
"extensions",
"user content",
"modifiers"
],
"min": 0,
"max": "*",
"base": {
"path": "BackboneElement.modifierExtension",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Extension"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key": "ext-1",
"severity": "error",
"human": "Must have either extensions or value[x], not both",
"expression": "extension.exists() != value.exists()",
"xpath": "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source": "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier": true,
"isModifierReason": "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them",
"isSummary": true,
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"id": "LogicalModelMolGen.Interpretation.KlinischeSignifikanz",
"path": "LogicalModelMolGen.Interpretation.KlinischeSignifikanz",
"short": "Finale Interpretation / Einschätzung",
"definition": "Finale Interpretation / Einschätzung",
"min": 0,
"max": "1",
"base": {
"path": "LogicalModelMolGen.Interpretation.KlinischeSignifikanz",
"min": 0,
"max": "1"
},
"type": [
{
"code": "CodeableConcept"
}
],
"binding": {
"strength": "extensible",
"valueSet": "http://loinc.org/vs/LL4034-6"
},
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:clinical-significance"
}
]
},
{
"id": "LogicalModelMolGen.Interpretation.Referenzen",
"path": "LogicalModelMolGen.Interpretation.Referenzen",
"short": "Referenzen",
"definition": "Referenzen",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Interpretation.Referenzen",
"min": 0,
"max": "*"
},
"type": [
{
"code": "RelatedArtifact"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "RelatedArtifact"
}
]
},
{
"id": "LogicalModelMolGen.Interpretation.ClinicalAnnotationLevelOfEvidence",
"path": "LogicalModelMolGen.Interpretation.ClinicalAnnotationLevelOfEvidence",
"short": "Clinical Annotation Level Of Evidence",
"definition": "Clinical Annotation Level Of Evidence",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Interpretation.ClinicalAnnotationLevelOfEvidence",
"min": 0,
"max": "*"
},
"type": [
{
"code": "CodeableConcept"
}
],
"binding": {
"strength": "example",
"valueSet": "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/evidence-level-example-vs"
},
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:evidence-level"
}
]
},
{
"id": "LogicalModelMolGen.Interpretation.AssoziierterPhaenotyp",
"path": "LogicalModelMolGen.Interpretation.AssoziierterPhaenotyp",
"short": "Mit Präsenz einer Variante assoziierter Phänotyp",
"definition": "Mit Präsenz einer Variante assoziierter Phänotyp",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Interpretation.AssoziierterPhaenotyp",
"min": 0,
"max": "*"
},
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:predicted-phenotype"
},
{
"identity": "FHIR",
"map": "Observation.component:phenotypic-treatment-context"
}
]
},
{
"id": "LogicalModelMolGen.Interpretation.Vererbungsmodus",
"path": "LogicalModelMolGen.Interpretation.Vererbungsmodus",
"short": "Art der Vererbung für beschriebenen Phänotyp",
"definition": "Art der Vererbung für beschriebenen Phänotyp",
"min": 0,
"max": "1",
"base": {
"path": "LogicalModelMolGen.Interpretation.Vererbungsmodus",
"min": 0,
"max": "1"
},
"type": [
{
"code": "CodeableConcept"
}
],
"binding": {
"strength": "preferred",
"valueSet": "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/condition-inheritance-mode-vs"
},
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:mode-of-inheritance"
}
]
},
{
"id": "LogicalModelMolGen.Interpretation.Zusammenfassung",
"path": "LogicalModelMolGen.Interpretation.Zusammenfassung",
"short": "Zusammenfassung als Freitext, kann inhaltlich folgende Punkte beinhalten: Antwort auf ursprüngliche Fragestellung ausformuliert Therapeutikum/Wirkstoff/Wirkstoffklasse Effekt/Auswirkung",
"definition": "Zusammenfassung als Freitext, kann inhaltlich folgende Punkte beinhalten: Antwort auf ursprüngliche Fragestellung ausformuliert Therapeutikum/Wirkstoff/Wirkstoffklasse Effekt/Auswirkung",
"min": 0,
"max": "1",
"base": {
"path": "LogicalModelMolGen.Interpretation.Zusammenfassung",
"min": 0,
"max": "1"
},
"type": [
{
"code": "string"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:conclusion-string"
}
]
},
{
"id": "LogicalModelMolGen.Interpretation.Medikamentenbewertung",
"path": "LogicalModelMolGen.Interpretation.Medikamentenbewertung",
"short": "Medikamentenbewertung",
"definition": "Medikamentenbewertung",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Interpretation.Medikamentenbewertung",
"min": 0,
"max": "*"
},
"type": [
{
"code": "CodeableConcept"
}
]
},
{
"id": "LogicalModelMolGen.Interpretation.Empfehlungen",
"path": "LogicalModelMolGen.Interpretation.Empfehlungen",
"short": "Empfehlungen: Andere/Allgemeine Empfehlungen (Freitext / Links) / Generelle ergänzende Referenz(en) (Bsp: PuMed-link / PMID)",
"definition": "Empfehlungen: Andere/Allgemeine Empfehlungen (Freitext / Links) / Generelle ergänzende Referenz(en) (Bsp: PuMed-link / PMID)",
"min": 0,
"max": "1",
"base": {
"path": "LogicalModelMolGen.Interpretation.Empfehlungen",
"min": 0,
"max": "1"
},
"type": [
{
"code": "CodeableConcept"
}
],
"binding": {
"strength": "extensible",
"valueSet": "http://loinc.org/vs/LL1037-2"
},
"mapping": [
{
"identity": "FHIR",
"map": "Task.code"
}
]
},
{
"id": "LogicalModelMolGen.Interpretation.Medikationsempfehlung",
"path": "LogicalModelMolGen.Interpretation.Medikationsempfehlung",
"short": "Medikationsempfehlung - Terminologie: LOINC",
"definition": "Medikationsempfehlung - Terminologie: LOINC",
"min": 0,
"max": "1",
"base": {
"path": "LogicalModelMolGen.Interpretation.Medikationsempfehlung",
"min": 0,
"max": "1"
},
"type": [
{
"code": "CodeableConcept"
}
],
"binding": {
"strength": "required",
"valueSet": "http://loinc.org/vs/LL4049-4"
},
"mapping": [
{
"identity": "FHIR",
"map": "Task.code"
}
]
},
{
"id": "LogicalModelMolGen.Weiteres",
"path": "LogicalModelMolGen.Weiteres",
"short": "WeiteresFormales",
"definition": "WeiteresFormales",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Weiteres",
"min": 0,
"max": "*"
},
"type": [
{
"code": "BackboneElement"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
}
]
},
{
"id": "LogicalModelMolGen.Weiteres.id",
"path": "LogicalModelMolGen.Weiteres.id",
"representation": [
"xmlAttr"
],
"short": "Unique id for inter-element referencing",
"definition": "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min": 0,
"max": "1",
"base": {
"path": "Element.id",
"min": 0,
"max": "1"
},
"type": [
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl": "string"
}
],
"code": "http://hl7.org/fhirpath/System.String"
}
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "LogicalModelMolGen.Weiteres.extension",
"path": "LogicalModelMolGen.Weiteres.extension",
"slicing": {
"discriminator": [
{
"type": "value",
"path": "url"
}
],
"description": "Extensions are always sliced by (at least) url",
"rules": "open"
},
"short": "Additional content defined by implementations",
"definition": "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment": "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias": [
"extensions",
"user content"
],
"min": 0,
"max": "*",
"base": {
"path": "Element.extension",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Extension"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key": "ext-1",
"severity": "error",
"human": "Must have either extensions or value[x], not both",
"expression": "extension.exists() != value.exists()",
"xpath": "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source": "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "LogicalModelMolGen.Weiteres.modifierExtension",
"path": "LogicalModelMolGen.Weiteres.modifierExtension",
"short": "Extensions that cannot be ignored even if unrecognized",
"definition": "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment": "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"requirements": "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).",
"alias": [
"extensions",
"user content",
"modifiers"
],
"min": 0,
"max": "*",
"base": {
"path": "BackboneElement.modifierExtension",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Extension"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key": "ext-1",
"severity": "error",
"human": "Must have either extensions or value[x], not both",
"expression": "extension.exists() != value.exists()",
"xpath": "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source": "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier": true,
"isModifierReason": "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them",
"isSummary": true,
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"id": "LogicalModelMolGen.Weiteres.BerichtID",
"path": "LogicalModelMolGen.Weiteres.BerichtID",
"short": "Identifikationsnummer des Berichtes",
"definition": "Identifikationsnummer des Berichtes",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Weiteres.BerichtID",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Identifier"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "DiagnosticReport.identifier"
}
]
},
{
"id": "LogicalModelMolGen.Weiteres.Anhaenge",
"path": "LogicalModelMolGen.Weiteres.Anhaenge",
"short": "Anhänge z.B. Tabellarische Übersicht Panel",
"definition": "Anhänge z.B. Tabellarische Übersicht Panel",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Weiteres.Anhaenge",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Reference",
"targetProfile": [
"http://hl7.org/fhir/StructureDefinition/Media",
"http://hl7.org/fhir/StructureDefinition/DocumentReference"
]
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Media"
},
{
"identity": "FHIR",
"map": "DocumentReference"
}
]
},
{
"id": "LogicalModelMolGen.Weiteres.Berichtstatus",
"path": "LogicalModelMolGen.Weiteres.Berichtstatus",
"short": "Berichtstatus (z.B. vorab oder final)",
"definition": "Berichtstatus (z.B. vorab oder final)",
"min": 1,
"max": "1",
"base": {
"path": "LogicalModelMolGen.Weiteres.Berichtstatus",
"min": 1,
"max": "1"
},
"type": [
{
"code": "code"
}
],
"binding": {
"strength": "required",
"valueSet": "http://hl7.org/fhir/ValueSet/diagnostic-report-status"
},
"mapping": [
{
"identity": "FHIR",
"map": "DiagnosticReport.status"
}
]
},
{
"id": "LogicalModelMolGen.Weiteres.DatumDesBerichts",
"path": "LogicalModelMolGen.Weiteres.DatumDesBerichts",
"short": "Datum des Berichtes /Zeitstempel (Bericht verfasst / freigegeben am)",
"definition": "Datum des Berichtes /Zeitstempel (Bericht verfasst / freigegeben am)",
"min": 0,
"max": "1",
"base": {
"path": "LogicalModelMolGen.Weiteres.DatumDesBerichts",
"min": 0,
"max": "1"
},
"type": [
{
"code": "instant"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "DiagnosticReport.issued"
}
]
},
{
"id": "LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner",
"path": "LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner",
"short": "LaborInstitutionAnsprechpartner",
"definition": "LaborInstitutionAnsprechpartner",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner",
"min": 0,
"max": "*"
},
"type": [
{
"code": "BackboneElement"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Practitioner"
},
{
"identity": "FHIR",
"map": "Organization"
},
{
"identity": "FHIR",
"map": "PractitionerRole"
}
]
},
{
"id": "LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.id",
"path": "LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.id",
"representation": [
"xmlAttr"
],
"short": "Unique id for inter-element referencing",
"definition": "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.",
"min": 0,
"max": "1",
"base": {
"path": "Element.id",
"min": 0,
"max": "1"
},
"type": [
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type",
"valueUrl": "string"
}
],
"code": "http://hl7.org/fhirpath/System.String"
}
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.extension",
"path": "LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.extension",
"slicing": {
"discriminator": [
{
"type": "value",
"path": "url"
}
],
"description": "Extensions are always sliced by (at least) url",
"rules": "open"
},
"short": "Additional content defined by implementations",
"definition": "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.",
"comment": "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"alias": [
"extensions",
"user content"
],
"min": 0,
"max": "*",
"base": {
"path": "Element.extension",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Extension"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key": "ext-1",
"severity": "error",
"human": "Must have either extensions or value[x], not both",
"expression": "extension.exists() != value.exists()",
"xpath": "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source": "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier": false,
"isSummary": false,
"mapping": [
{
"identity": "rim",
"map": "n/a"
}
]
},
{
"id": "LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.modifierExtension",
"path": "LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.modifierExtension",
"short": "Extensions that cannot be ignored even if unrecognized",
"definition": "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).",
"comment": "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.",
"requirements": "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).",
"alias": [
"extensions",
"user content",
"modifiers"
],
"min": 0,
"max": "*",
"base": {
"path": "BackboneElement.modifierExtension",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Extension"
}
],
"constraint": [
{
"key": "ele-1",
"severity": "error",
"human": "All FHIR elements must have a @value or children",
"expression": "hasValue() or (children().count() > id.count())",
"xpath": "@value|f:*|h:div",
"source": "http://hl7.org/fhir/StructureDefinition/Element"
},
{
"key": "ext-1",
"severity": "error",
"human": "Must have either extensions or value[x], not both",
"expression": "extension.exists() != value.exists()",
"xpath": "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])",
"source": "http://hl7.org/fhir/StructureDefinition/Extension"
}
],
"isModifier": true,
"isModifierReason": "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them",
"isSummary": true,
"mapping": [
{
"identity": "rim",
"map": "N/A"
}
]
},
{
"id": "LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.Laborakkreditierungen",
"path": "LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.Laborakkreditierungen",
"short": "Labor-Akkreditierungen",
"definition": "Labor-Akkreditierungen",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.Laborakkreditierungen",
"min": 0,
"max": "*"
},
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Practitioner.qualification"
}
]
},
{
"id": "LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.NameAnsprechpartner",
"path": "LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.NameAnsprechpartner",
"short": "Name Ansprechpartner (Titel - Nachname - Zuname - Vorname)",
"definition": "Name Ansprechpartner (Titel - Nachname - Zuname - Vorname)",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.NameAnsprechpartner",
"min": 0,
"max": "*"
},
"type": [
{
"code": "HumanName"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Practitioner.name"
}
]
},
{
"id": "LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.Adresse",
"path": "LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.Adresse",
"short": "Adresszeile 1 & 2, Angabe von Stadt, Postleitzahl, Land",
"definition": "Adresszeile 1 & 2, Angabe von Stadt, Postleitzahl, Land",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.Adresse",
"min": 0,
"max": "*"
},
"type": [
{
"code": "Address"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Practitioner.address"
}
]
},
{
"id": "LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.Kontakt",
"path": "LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.Kontakt",
"short": "Angabe von Telefonnummer, Faxnummer und Email",
"definition": "Angabe von Telefonnummer, Faxnummer und Email",
"min": 0,
"max": "*",
"base": {
"path": "LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.Kontakt",
"min": 0,
"max": "*"
},
"type": [
{
"code": "ContactPoint"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Practitioner.telecom"
}
]
}
]
},
"differential": {
"element": [
{
"id": "LogicalModelMolGen",
"path": "LogicalModelMolGen",
"short": "MII LM MolGen LogicalModel",
"definition": "LogicalModel des MII Moduls Molekulargenetischer Befundbericht"
},
{
"id": "LogicalModelMolGen.Probeninformation",
"path": "LogicalModelMolGen.Probeninformation",
"short": "Probeninformation",
"definition": "Probeninformation",
"min": 1,
"max": "1",
"type": [
{
"code": "BackboneElement"
}
]
},
{
"id": "LogicalModelMolGen.Probeninformation.Patient",
"path": "LogicalModelMolGen.Probeninformation.Patient",
"short": "Patient",
"definition": "Abgebildet im KDS Modul Person",
"min": 1,
"max": "1",
"type": [
{
"code": "Reference",
"targetProfile": [
"http://hl7.org/fhir/StructureDefinition/Patient"
]
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Patient"
}
]
},
{
"id": "LogicalModelMolGen.Probeninformation.Probe",
"path": "LogicalModelMolGen.Probeninformation.Probe",
"short": "Probe",
"definition": "Abgebildet im KDS Modul Biobank",
"min": 0,
"max": "*",
"type": [
{
"code": "Reference",
"targetProfile": [
"http://hl7.org/fhir/StructureDefinition/Specimen"
]
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Specimen"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung",
"path": "LogicalModelMolGen.Anforderung",
"short": "Anforderung",
"definition": "Anforderung",
"min": 0,
"max": "*",
"type": [
{
"code": "BackboneElement"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "ServiceRequest"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.Indikation",
"path": "LogicalModelMolGen.Anforderung.Indikation",
"short": "Indikation",
"definition": "Indikation",
"min": 0,
"max": "*",
"type": [
{
"code": "BackboneElement"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.Indikation.Indikation",
"path": "LogicalModelMolGen.Anforderung.Indikation.Indikation",
"short": "Indikation",
"definition": "Indikation; (mögliche) Erkrankung Terminologien: ICD-10, SNOMED, Orpha, HPO - Bsp.: Verdacht auf… / Ausschluss von… / Mögliche Therapie für ...",
"min": 0,
"max": "*",
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "ServiceRequest.reasonCode"
},
{
"identity": "FHIR",
"map": "ServiceRequest.reasonReference"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.Indikation.Gesundheitszustand",
"path": "LogicalModelMolGen.Anforderung.Indikation.Gesundheitszustand",
"short": "Gesundheitszustand",
"definition": "Aktueller Gesundheitszustand; Angabe aktueller Beschwerden oder nachgewiesener Erkrankung - Terminologie: HPO",
"min": 0,
"max": "*",
"type": [
{
"code": "Reference",
"targetProfile": [
"http://hl7.org/fhir/StructureDefinition/Condition"
]
}
],
"mapping": [
{
"identity": "FHIR",
"map": "ServiceRequest.supportingInfo"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.Indikation.KrankengeschichteFamilie",
"path": "LogicalModelMolGen.Anforderung.Indikation.KrankengeschichteFamilie",
"short": "Krankengeschichte Familie",
"definition": "Krankengeschichte Familie",
"min": 0,
"max": "*",
"type": [
{
"code": "Reference",
"targetProfile": [
"http://hl7.org/fhir/StructureDefinition/FamilyMemberHistory"
]
}
],
"mapping": [
{
"identity": "FHIR",
"map": "FamilyMemberHistory"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.Indikation.Anlagetraeger",
"path": "LogicalModelMolGen.Anforderung.Indikation.Anlagetraeger",
"short": "Anlageträger",
"definition": "Anlageträgerstatus der Familie - Ist gefordert wenn Verwandte des Index-Falles ebenfalls sequenziert wurden - Terminologie: PED",
"min": 0,
"max": "*",
"type": [
{
"code": "Reference",
"targetProfile": [
"http://hl7.org/fhir/StructureDefinition/FamilyMemberHistory",
"http://hl7.org/fhir/StructureDefinition/Condition",
"http://hl7.org/fhir/StructureDefinition/Observation"
]
}
],
"mapping": [
{
"identity": "FHIR",
"map": "FamilyMemberHistory"
},
{
"identity": "FHIR",
"map": "Condition"
},
{
"identity": "FHIR",
"map": "Observation"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.Indikation.RelevanteVorergebnisse",
"path": "LogicalModelMolGen.Anforderung.Indikation.RelevanteVorergebnisse",
"short": "Relevante Vorergebnisse",
"definition": "Angabe zuvor durchgeführter relevanter Tests (inklusive z.B. Methode, getestete Gene, und Ergebnisse)",
"min": 0,
"max": "*",
"type": [
{
"code": "Reference",
"targetProfile": [
"http://hl7.org/fhir/StructureDefinition/Condition",
"http://hl7.org/fhir/StructureDefinition/Observation",
"http://hl7.org/fhir/StructureDefinition/DiagnosticReport",
"http://hl7.org/fhir/StructureDefinition/DocumentReference"
]
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Condition"
},
{
"identity": "FHIR",
"map": "Observation"
},
{
"identity": "FHIR",
"map": "DiagnosticReport"
},
{
"identity": "FHIR",
"map": "DocumentReference"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.Anforderer",
"path": "LogicalModelMolGen.Anforderung.Anforderer",
"short": "Anforderer",
"definition": "Informationen zur Person, die die molekulargenetischen Untersuchungen in Auftrag gibt",
"min": 0,
"max": "*",
"type": [
{
"code": "Reference",
"targetProfile": [
"http://hl7.org/fhir/StructureDefinition/Practitioner",
"http://hl7.org/fhir/StructureDefinition/PractitionerRole",
"http://hl7.org/fhir/StructureDefinition/Organization",
"http://hl7.org/fhir/StructureDefinition/Patient",
"http://hl7.org/fhir/StructureDefinition/RelatedPerson",
"http://hl7.org/fhir/StructureDefinition/Device"
]
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Practitioner"
},
{
"identity": "FHIR",
"map": "PractitionerRole"
},
{
"identity": "FHIR",
"map": "Organization"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.Anforderer.ZuTestendeGene",
"path": "LogicalModelMolGen.Anforderung.Anforderer.ZuTestendeGene",
"short": "Zu testende Gene",
"definition": "Angabe der zu testenden Gene",
"min": 0,
"max": "*",
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "ServiceRequest.code"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.Anforderer.EinheitlicherBewertungsmassstab",
"path": "LogicalModelMolGen.Anforderung.Anforderer.EinheitlicherBewertungsmassstab",
"short": "Einheitlicher Bewertungsmaßstab",
"definition": "Der Einheitliche Bewertungsmaßstab definiert den Inhalt der abrechnungsfähigen vertragsärztlichen Leistungen Einheitlicher Bewertungsmaßstab (EBM): Angabe der Ziffern",
"min": 0,
"max": "*",
"type": [
{
"code": "Reference",
"targetProfile": [
"http://hl7.org/fhir/StructureDefinition/ChargeItem"
]
}
],
"mapping": [
{
"identity": "FHIR",
"map": "ChargeItem"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.Anforderer.Anforderungstext",
"path": "LogicalModelMolGen.Anforderung.Anforderer.Anforderungstext",
"short": "Anforderungstext",
"definition": "Freitext für die Angabe von entweder originaler, unveränderter Anforderungstext, oder alternativ: zusätzliche Anforderungen oder angeforderter Test",
"min": 0,
"max": "1",
"type": [
{
"code": "string"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "ServiceRequest.code.text"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.DatumDerAnforderung",
"path": "LogicalModelMolGen.Anforderung.DatumDerAnforderung",
"short": "Datum der Anforderung",
"definition": "Angabe des Datums der Anforderung",
"min": 0,
"max": "1",
"type": [
{
"code": "dateTime"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "ServiceRequest.authoredOn"
}
]
},
{
"id": "LogicalModelMolGen.Anforderung.Bemerkungen",
"path": "LogicalModelMolGen.Anforderung.Bemerkungen",
"short": "Bemerkungen",
"definition": "Bemerkungen",
"min": 0,
"max": "1",
"type": [
{
"code": "Annotation"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "ServiceRequest.note"
}
]
},
{
"id": "LogicalModelMolGen.Methoden",
"path": "LogicalModelMolGen.Methoden",
"short": "Methoden",
"definition": "Methoden",
"min": 0,
"max": "*",
"type": [
{
"code": "BackboneElement"
}
]
},
{
"id": "LogicalModelMolGen.Methoden.Methode",
"path": "LogicalModelMolGen.Methoden.Methode",
"short": "Methode",
"definition": "Methode und Referenz zur Methode - beinhaltet alle sequenzbasierenden Analytik-Methoden, während nicht sequenzbasierende Aufarbeitungsmethoden in das Modul Pathologie zuzuordnen sind.",
"min": 0,
"max": "1",
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.method"
}
]
},
{
"id": "LogicalModelMolGen.Methoden.RelevanteParameter",
"path": "LogicalModelMolGen.Methoden.RelevanteParameter",
"short": "Relevante Parameter",
"definition": "Relevante Parameter (Angabe von Primer / Zyklenanzahl, Panel)",
"min": 0,
"max": "*",
"type": [
{
"code": "Reference",
"targetProfile": [
"http://hl7.org/fhir/StructureDefinition/Observation",
"http://hl7.org/fhir/StructureDefinition/DocumentReference"
]
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation"
},
{
"identity": "FHIR",
"map": "DocumentReference"
}
]
},
{
"id": "LogicalModelMolGen.Methoden.GeraeteSoftwareKits",
"path": "LogicalModelMolGen.Methoden.GeraeteSoftwareKits",
"short": "Geräte / Software / Kits",
"definition": "Angaben verwendeter Geräte / Software / Kits inklusive Target enrichment für die Analyse (u.U. Angabe von Hersteller; Versionsnummer)",
"min": 0,
"max": "1",
"type": [
{
"code": "Reference",
"targetProfile": [
"http://hl7.org/fhir/StructureDefinition/Device"
]
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Device"
}
]
},
{
"id": "LogicalModelMolGen.Methoden.GetesteteGene",
"path": "LogicalModelMolGen.Methoden.GetesteteGene",
"short": "Getestete Gene",
"definition": "Angabe der getesteten Gene",
"min": 0,
"max": "*",
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:gene-studied"
}
]
},
{
"id": "LogicalModelMolGen.Methoden.Referenzsequenz",
"path": "LogicalModelMolGen.Methoden.Referenzsequenz",
"short": "Referenzsequenz",
"definition": "Transkript Referenzsequenz (Ensembl und RefSeq)",
"min": 0,
"max": "1",
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:transcript-ref-seq"
}
]
},
{
"id": "LogicalModelMolGen.Methoden.ReadDepthCoverage",
"path": "LogicalModelMolGen.Methoden.ReadDepthCoverage",
"short": "Read depth/Coverage",
"definition": "Anzahl der Ablesungen eines bestimmten Nukleotids im Genom in einem Experiment",
"min": 0,
"max": "1",
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:allelic-read-depth"
}
]
},
{
"id": "LogicalModelMolGen.Methoden.IntronSpanningIVS",
"path": "LogicalModelMolGen.Methoden.IntronSpanningIVS",
"short": "Intron spanning / IVS",
"definition": "Intron spanning oder IVS (InterVening Sequence, z.B. Introns)",
"min": 0,
"max": "*",
"type": [
{
"code": "string"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:dna-region"
}
]
},
{
"id": "LogicalModelMolGen.Methoden.StartUndEndnukleotid",
"path": "LogicalModelMolGen.Methoden.StartUndEndnukleotid",
"short": "Start- und Endnukleotid",
"definition": "Start- und Endnukleotid",
"min": 0,
"max": "1",
"type": [
{
"code": "Range"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:exact-start-end"
}
]
},
{
"id": "LogicalModelMolGen.Methoden.SensitivitaetDetektionslimit",
"path": "LogicalModelMolGen.Methoden.SensitivitaetDetektionslimit",
"short": "Sensitivität/Detektionslimit",
"definition": "Sensitivität/Detektionslimit",
"min": 0,
"max": "1",
"type": [
{
"code": "Quantity"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:detection-limit"
}
]
},
{
"id": "LogicalModelMolGen.Methoden.LimitierungenBemerkungen",
"path": "LogicalModelMolGen.Methoden.LimitierungenBemerkungen",
"short": "Limitierungen/Bemerkungen",
"definition": "Limitierungen/Bemerkungen, Freitext",
"min": 0,
"max": "*",
"type": [
{
"code": "Annotation"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.note"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse",
"path": "LogicalModelMolGen.Ergebnisse",
"short": "Ergebnisse",
"definition": "Ergebnisse",
"min": 0,
"max": "*",
"type": [
{
"code": "BackboneElement"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Zusammenfassung",
"path": "LogicalModelMolGen.Ergebnisse.Zusammenfassung",
"short": "Zusammenfassung",
"definition": "Zusammenfassung",
"min": 0,
"max": "1",
"type": [
{
"code": "CodeableConcept"
}
],
"binding": {
"strength": "required",
"valueSet": "http://loinc.org/vs/LL541-4"
},
"mapping": [
{
"identity": "FHIR",
"map": "Observation.valueCodeableConcept"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen",
"short": "Veränderungen",
"definition": "Veränderungen",
"min": 0,
"max": "*",
"type": [
{
"code": "BackboneElement"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.VeraenderungProteinebene",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.VeraenderungProteinebene",
"short": "Veränderungen auf Proteinebene: Terminologie: HGVS - Angabe möglich von: Formal Protein (pHGVS) 3-letter code: Bsp.: p.(Cys47Tyr), p.(Val600Glu) - Formal Protein (pHGVS) 1-letter code: Bsp.: p.(C47Y) - Trivialname (Kurzform): Bsp.: C47Y",
"definition": "Veränderungen auf Proteinebene: Terminologie: HGVS - Angabe möglich von: Formal Protein (pHGVS) 3-letter code: Bsp.: p.(Cys47Tyr), p.(Val600Glu) - Formal Protein (pHGVS) 1-letter code: Bsp.: p.(C47Y) - Trivialname (Kurzform): Bsp.: C47Y",
"min": 0,
"max": "1",
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:protein-hgvs"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.DNAVeraenderungen",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.DNAVeraenderungen",
"short": "Veränderung auf DNA-Level, formale Beschreibung mittels cHGVS",
"definition": "Veränderung auf DNA-Level, formale Beschreibung mittels cHGVS",
"min": 0,
"max": "1",
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:coding-hgvs"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.GenomischeDNAVeraenderung",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.GenomischeDNAVeraenderung",
"short": "Genomische DNA Veränderung gHGVS",
"definition": "Genomische DNA Veränderung gHGVS",
"min": 0,
"max": "1",
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:genomic-hgvs"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.TranskriptID",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.TranskriptID",
"short": "Transkript- ID (Code) - Terminologie: NCBI, Ensembl, GTR, LRG",
"definition": "Transkript- ID (Code) - Terminologie: NCBI, Ensembl, GTR, LRG",
"min": 0,
"max": "1",
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:transcript-ref-seq"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.Referenzgenom",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.Referenzgenom",
"short": "Referenzgenom - Der Genome Build hat zwei Formate, entweder hg und eine Nummer (hg18, hg19, hg38) oder GRCh/NCBI und eine Nummer (NCBI35, NCBI36, GRCh37, GRCh38).",
"definition": "Referenzgenom - Der Genome Build hat zwei Formate, entweder hg und eine Nummer (hg18, hg19, hg38) oder GRCh/NCBI und eine Nummer (NCBI35, NCBI36, GRCh37, GRCh38).",
"min": 0,
"max": "*",
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:reference-sequence-assembly"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.RefAllel",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.RefAllel",
"short": "Referenzallel",
"definition": "Referenzallel",
"min": 0,
"max": "1",
"type": [
{
"code": "string"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:ref-allele"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.AltAllel",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.AltAllel",
"short": "Jedes alternative (ALT) Allel an dem untersuchten Lokus",
"definition": "Jedes alternative (ALT) Allel an dem untersuchten Lokus",
"min": 0,
"max": "1",
"type": [
{
"code": "string"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:alt-allele"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.DNAMutationstyp",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.DNAMutationstyp",
"short": "Varianten-Typ bzw. Mutationsart - Terminologie: Sequence Ontology (include codes from http://sequenceontology.org where concept IsA SO:0002072)",
"definition": "Varianten-Typ bzw. Mutationsart - Terminologie: Sequence Ontology (include codes from http://sequenceontology.org where concept IsA SO:0002072)",
"min": 0,
"max": "1",
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:coding-change-type"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.MutationskonsequenzFunktionell",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.MutationskonsequenzFunktionell",
"short": "Mutationskonsequenz (funktionell) - Terminologie: Sequence Ontology",
"definition": "Mutationskonsequenz (funktionell) - Terminologie: Sequence Ontology",
"min": 0,
"max": "1",
"type": [
{
"code": "CodeableConcept"
}
],
"binding": {
"strength": "required",
"valueSet": "http://loinc.org/vs/LL380-7"
},
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:amino-acid-change-type"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.ProbenAllelfrequenz",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.ProbenAllelfrequenz",
"short": "Allelfrequenz",
"definition": "Allelfrequenz",
"min": 0,
"max": "1",
"type": [
{
"code": "Quantity"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:sample-allelic-frequency"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.UrsprungDerVariante",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.UrsprungDerVariante",
"short": "Ursprung der Variante",
"definition": "Ursprung der Variante",
"min": 0,
"max": "1",
"type": [
{
"code": "CodeableConcept"
}
],
"binding": {
"strength": "required",
"valueSet": "http://loinc.org/vs/LL378-1"
},
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:genomic-source-class"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.VariantenID",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.VariantenID",
"short": "Varianten ID; eindeutige Beschreibung der Variante - Terminologie: ClinVar, HGMD, COSMIC, PMID, dbSNP",
"definition": "Varianten ID; eindeutige Beschreibung der Variante - Terminologie: ClinVar, HGMD, COSMIC, PMID, dbSNP",
"min": 0,
"max": "*",
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:variation-code"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.Chromosom",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.Chromosom",
"short": "Chromosom",
"definition": "Chromosom",
"min": 0,
"max": "*",
"type": [
{
"code": "CodeableConcept"
}
],
"binding": {
"strength": "required",
"valueSet": "http://loinc.org/vs/LL2938-0"
},
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:chromosome-identifier"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.Exon",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.Exon",
"short": "Exon",
"definition": "Exon",
"min": 0,
"max": "*",
"type": [
{
"code": "string"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:dna-region"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.ZytogenetischeLokalisierung",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.ZytogenetischeLokalisierung",
"short": "Variante - Terminologie: ISCN",
"definition": "Variante - Terminologie: ISCN",
"min": 0,
"max": "*",
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:cytogenetic-location"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Veraenderungen.Kopienzahlvariationen",
"path": "LogicalModelMolGen.Ergebnisse.Veraenderungen.Kopienzahlvariationen",
"short": "Kopienzahlvariationen der betroffenen Gene",
"definition": "Kopienzahlvariationen der betroffenen Gene",
"min": 0,
"max": "1",
"type": [
{
"code": "Quantity"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:copy-number"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Mutationslast",
"path": "LogicalModelMolGen.Ergebnisse.Mutationslast",
"short": "Somat. Mutationen / Mutationslast",
"definition": "Somat. Mutationen / Mutationslast",
"min": 0,
"max": "1",
"type": [
{
"code": "Quantity"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.valueQuantity"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Mikrosatelliteninstabilitaet",
"path": "LogicalModelMolGen.Ergebnisse.Mikrosatelliteninstabilitaet",
"short": "Mikrosatelliteninstabilität",
"definition": "Mikrosatelliteninstabilität",
"min": 0,
"max": "1",
"type": [
{
"code": "CodeableConcept"
}
],
"binding": {
"strength": "extensible",
"valueSet": "http://loinc.org/vs/LL3994-2"
},
"mapping": [
{
"identity": "FHIR",
"map": "Observation.valueCodeableConcept"
}
]
},
{
"id": "LogicalModelMolGen.Ergebnisse.Daten",
"path": "LogicalModelMolGen.Ergebnisse.Daten",
"short": "Rohdaten / Link auf die Datei/Dateien",
"definition": "Rohdaten / Link auf die Datei/Dateien",
"min": 0,
"max": "*",
"type": [
{
"code": "Reference",
"targetProfile": [
"http://hl7.org/fhir/StructureDefinition/DocumentReference"
]
}
],
"mapping": [
{
"identity": "FHIR",
"map": "DocumentReference"
}
]
},
{
"id": "LogicalModelMolGen.Interpretation",
"path": "LogicalModelMolGen.Interpretation",
"short": "Interpretation",
"definition": "Interpretation",
"min": 0,
"max": "*",
"type": [
{
"code": "BackboneElement"
}
]
},
{
"id": "LogicalModelMolGen.Interpretation.KlinischeSignifikanz",
"path": "LogicalModelMolGen.Interpretation.KlinischeSignifikanz",
"short": "Finale Interpretation / Einschätzung",
"definition": "Finale Interpretation / Einschätzung",
"min": 0,
"max": "1",
"type": [
{
"code": "CodeableConcept"
}
],
"binding": {
"strength": "extensible",
"valueSet": "http://loinc.org/vs/LL4034-6"
},
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:clinical-significance"
}
]
},
{
"id": "LogicalModelMolGen.Interpretation.Referenzen",
"path": "LogicalModelMolGen.Interpretation.Referenzen",
"short": "Referenzen",
"definition": "Referenzen",
"min": 0,
"max": "*",
"type": [
{
"code": "RelatedArtifact"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "RelatedArtifact"
}
]
},
{
"id": "LogicalModelMolGen.Interpretation.ClinicalAnnotationLevelOfEvidence",
"path": "LogicalModelMolGen.Interpretation.ClinicalAnnotationLevelOfEvidence",
"short": "Clinical Annotation Level Of Evidence",
"definition": "Clinical Annotation Level Of Evidence",
"min": 0,
"max": "*",
"type": [
{
"code": "CodeableConcept"
}
],
"binding": {
"strength": "example",
"valueSet": "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/evidence-level-example-vs"
},
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:evidence-level"
}
]
},
{
"id": "LogicalModelMolGen.Interpretation.AssoziierterPhaenotyp",
"path": "LogicalModelMolGen.Interpretation.AssoziierterPhaenotyp",
"short": "Mit Präsenz einer Variante assoziierter Phänotyp",
"definition": "Mit Präsenz einer Variante assoziierter Phänotyp",
"min": 0,
"max": "*",
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:predicted-phenotype"
},
{
"identity": "FHIR",
"map": "Observation.component:phenotypic-treatment-context"
}
]
},
{
"id": "LogicalModelMolGen.Interpretation.Vererbungsmodus",
"path": "LogicalModelMolGen.Interpretation.Vererbungsmodus",
"short": "Art der Vererbung für beschriebenen Phänotyp",
"definition": "Art der Vererbung für beschriebenen Phänotyp",
"min": 0,
"max": "1",
"type": [
{
"code": "CodeableConcept"
}
],
"binding": {
"strength": "preferred",
"valueSet": "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/condition-inheritance-mode-vs"
},
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:mode-of-inheritance"
}
]
},
{
"id": "LogicalModelMolGen.Interpretation.Zusammenfassung",
"path": "LogicalModelMolGen.Interpretation.Zusammenfassung",
"short": "Zusammenfassung als Freitext, kann inhaltlich folgende Punkte beinhalten: Antwort auf ursprüngliche Fragestellung ausformuliert Therapeutikum/Wirkstoff/Wirkstoffklasse Effekt/Auswirkung",
"definition": "Zusammenfassung als Freitext, kann inhaltlich folgende Punkte beinhalten: Antwort auf ursprüngliche Fragestellung ausformuliert Therapeutikum/Wirkstoff/Wirkstoffklasse Effekt/Auswirkung",
"min": 0,
"max": "1",
"type": [
{
"code": "string"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Observation.component:conclusion-string"
}
]
},
{
"id": "LogicalModelMolGen.Interpretation.Medikamentenbewertung",
"path": "LogicalModelMolGen.Interpretation.Medikamentenbewertung",
"short": "Medikamentenbewertung",
"definition": "Medikamentenbewertung",
"min": 0,
"max": "*",
"type": [
{
"code": "CodeableConcept"
}
]
},
{
"id": "LogicalModelMolGen.Interpretation.Empfehlungen",
"path": "LogicalModelMolGen.Interpretation.Empfehlungen",
"short": "Empfehlungen: Andere/Allgemeine Empfehlungen (Freitext / Links) / Generelle ergänzende Referenz(en) (Bsp: PuMed-link / PMID)",
"definition": "Empfehlungen: Andere/Allgemeine Empfehlungen (Freitext / Links) / Generelle ergänzende Referenz(en) (Bsp: PuMed-link / PMID)",
"min": 0,
"max": "1",
"type": [
{
"code": "CodeableConcept"
}
],
"binding": {
"strength": "extensible",
"valueSet": "http://loinc.org/vs/LL1037-2"
},
"mapping": [
{
"identity": "FHIR",
"map": "Task.code"
}
]
},
{
"id": "LogicalModelMolGen.Interpretation.Medikationsempfehlung",
"path": "LogicalModelMolGen.Interpretation.Medikationsempfehlung",
"short": "Medikationsempfehlung - Terminologie: LOINC",
"definition": "Medikationsempfehlung - Terminologie: LOINC",
"min": 0,
"max": "1",
"type": [
{
"code": "CodeableConcept"
}
],
"binding": {
"strength": "required",
"valueSet": "http://loinc.org/vs/LL4049-4"
},
"mapping": [
{
"identity": "FHIR",
"map": "Task.code"
}
]
},
{
"id": "LogicalModelMolGen.Weiteres",
"path": "LogicalModelMolGen.Weiteres",
"short": "WeiteresFormales",
"definition": "WeiteresFormales",
"min": 0,
"max": "*",
"type": [
{
"code": "BackboneElement"
}
]
},
{
"id": "LogicalModelMolGen.Weiteres.BerichtID",
"path": "LogicalModelMolGen.Weiteres.BerichtID",
"short": "Identifikationsnummer des Berichtes",
"definition": "Identifikationsnummer des Berichtes",
"min": 0,
"max": "*",
"type": [
{
"code": "Identifier"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "DiagnosticReport.identifier"
}
]
},
{
"id": "LogicalModelMolGen.Weiteres.Anhaenge",
"path": "LogicalModelMolGen.Weiteres.Anhaenge",
"short": "Anhänge z.B. Tabellarische Übersicht Panel",
"definition": "Anhänge z.B. Tabellarische Übersicht Panel",
"min": 0,
"max": "*",
"type": [
{
"code": "Reference",
"targetProfile": [
"http://hl7.org/fhir/StructureDefinition/Media",
"http://hl7.org/fhir/StructureDefinition/DocumentReference"
]
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Media"
},
{
"identity": "FHIR",
"map": "DocumentReference"
}
]
},
{
"id": "LogicalModelMolGen.Weiteres.Berichtstatus",
"path": "LogicalModelMolGen.Weiteres.Berichtstatus",
"short": "Berichtstatus (z.B. vorab oder final)",
"definition": "Berichtstatus (z.B. vorab oder final)",
"min": 1,
"max": "1",
"type": [
{
"code": "code"
}
],
"binding": {
"strength": "required",
"valueSet": "http://hl7.org/fhir/ValueSet/diagnostic-report-status"
},
"mapping": [
{
"identity": "FHIR",
"map": "DiagnosticReport.status"
}
]
},
{
"id": "LogicalModelMolGen.Weiteres.DatumDesBerichts",
"path": "LogicalModelMolGen.Weiteres.DatumDesBerichts",
"short": "Datum des Berichtes /Zeitstempel (Bericht verfasst / freigegeben am)",
"definition": "Datum des Berichtes /Zeitstempel (Bericht verfasst / freigegeben am)",
"min": 0,
"max": "1",
"type": [
{
"code": "instant"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "DiagnosticReport.issued"
}
]
},
{
"id": "LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner",
"path": "LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner",
"short": "LaborInstitutionAnsprechpartner",
"definition": "LaborInstitutionAnsprechpartner",
"min": 0,
"max": "*",
"type": [
{
"code": "BackboneElement"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Practitioner"
},
{
"identity": "FHIR",
"map": "Organization"
},
{
"identity": "FHIR",
"map": "PractitionerRole"
}
]
},
{
"id": "LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.Laborakkreditierungen",
"path": "LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.Laborakkreditierungen",
"short": "Labor-Akkreditierungen",
"definition": "Labor-Akkreditierungen",
"min": 0,
"max": "*",
"type": [
{
"code": "CodeableConcept"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Practitioner.qualification"
}
]
},
{
"id": "LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.NameAnsprechpartner",
"path": "LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.NameAnsprechpartner",
"short": "Name Ansprechpartner (Titel - Nachname - Zuname - Vorname)",
"definition": "Name Ansprechpartner (Titel - Nachname - Zuname - Vorname)",
"min": 0,
"max": "*",
"type": [
{
"code": "HumanName"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Practitioner.name"
}
]
},
{
"id": "LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.Adresse",
"path": "LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.Adresse",
"short": "Adresszeile 1 & 2, Angabe von Stadt, Postleitzahl, Land",
"definition": "Adresszeile 1 & 2, Angabe von Stadt, Postleitzahl, Land",
"min": 0,
"max": "*",
"type": [
{
"code": "Address"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Practitioner.address"
}
]
},
{
"id": "LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.Kontakt",
"path": "LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.Kontakt",
"short": "Angabe von Telefonnummer, Faxnummer und Email",
"definition": "Angabe von Telefonnummer, Faxnummer und Email",
"min": 0,
"max": "*",
"type": [
{
"code": "ContactPoint"
}
],
"mapping": [
{
"identity": "FHIR",
"map": "Practitioner.telecom"
}
]
}
]
}
}