LogicalModel des MII Moduls Molekulargenetischer Befundbericht

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

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.

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.

Probeninformation

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

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.

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.

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.

Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

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.

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.

Abgebildet im KDS Modul Person

Abgebildet im KDS Modul Biobank

Anforderung

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

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.

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.

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.

Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

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.

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.

Indikation

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

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.

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.

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.

Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

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.

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.

Indikation; (mögliche) Erkrankung Terminologien: ICD-10, SNOMED, Orpha, HPO - Bsp.: Verdacht auf… / Ausschluss von… / Mögliche Therapie für ...

Aktueller Gesundheitszustand; Angabe aktueller Beschwerden oder nachgewiesener Erkrankung - Terminologie: HPO

Krankengeschichte Familie

Anlageträgerstatus der Familie - Ist gefordert wenn Verwandte des Index-Falles ebenfalls sequenziert wurden - Terminologie: PED

Angabe zuvor durchgeführter relevanter Tests (inklusive z.B. Methode, getestete Gene, und Ergebnisse)

Informationen zur Person, die die molekulargenetischen Untersuchungen in Auftrag gibt

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

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.

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.

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.

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.

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.

The 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).

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.

Aa resource (or, for logical models, the URI of the logical model).

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.

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.

When 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

Applications converting a logical reference to a literal reference may choose to leave the logical reference present, or remove it.

Reference 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).

Plain text narrative that identifies the resource in addition to the resource reference.

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.

Angabe der zu testenden Gene

Der Einheitliche Bewertungsmaßstab definiert den Inhalt der abrechnungsfähigen vertragsärztlichen Leistungen Einheitlicher Bewertungsmaßstab (EBM): Angabe der Ziffern

Freitext für die Angabe von entweder originaler, unveränderter Anforderungstext, oder alternativ: zusätzliche Anforderungen oder angeforderter Test

Angabe des Datums der Anforderung

Bemerkungen

Methoden

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

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.

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.

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.

Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

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.

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.

Methode und Referenz zur Methode - beinhaltet alle sequenzbasierenden Analytik-Methoden, während nicht sequenzbasierende Aufarbeitungsmethoden in das Modul Pathologie zuzuordnen sind.

Relevante Parameter (Angabe von Primer / Zyklenanzahl, Panel)

Angaben verwendeter Geräte / Software / Kits inklusive Target enrichment für die Analyse (u.U. Angabe von Hersteller; Versionsnummer)

Angabe der getesteten Gene

Transkript Referenzsequenz (Ensembl und RefSeq)

Anzahl der Ablesungen eines bestimmten Nukleotids im Genom in einem Experiment

Intron spanning oder IVS (InterVening Sequence, z.B. Introns)

Start- und Endnukleotid

Sensitivität/Detektionslimit

Limitierungen/Bemerkungen, Freitext

Ergebnisse

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

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.

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.

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.

Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

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.

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.

Zusammenfassung

Veränderungen

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

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.

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.

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.

Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

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.

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.

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

Veränderung auf DNA-Level, formale Beschreibung mittels cHGVS

Genomische DNA Veränderung gHGVS

Transkript- ID (Code) - Terminologie: NCBI, Ensembl, GTR, LRG

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).

Referenzallel

Jedes alternative (ALT) Allel an dem untersuchten Lokus

Varianten-Typ bzw. Mutationsart - Terminologie: Sequence Ontology (include codes from http://sequenceontology.org where concept IsA SO:0002072)

Mutationskonsequenz (funktionell) - Terminologie: Sequence Ontology

Allelfrequenz

Ursprung der Variante

Varianten ID; eindeutige Beschreibung der Variante - Terminologie: ClinVar, HGMD, COSMIC, PMID, dbSNP

Chromosom

Exon

Variante - Terminologie: ISCN

Kopienzahlvariationen der betroffenen Gene

Somat. Mutationen / Mutationslast

Mikrosatelliteninstabilität

Rohdaten / Link auf die Datei/Dateien

Interpretation

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

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.

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.

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.

Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

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.

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.

Finale Interpretation / Einschätzung

Referenzen

Clinical Annotation Level Of Evidence

Mit Präsenz einer Variante assoziierter Phänotyp

Art der Vererbung für beschriebenen Phänotyp

Zusammenfassung als Freitext, kann inhaltlich folgende Punkte beinhalten: Antwort auf ursprüngliche Fragestellung ausformuliert Therapeutikum/Wirkstoff/Wirkstoffklasse Effekt/Auswirkung

Medikamentenbewertung

Empfehlungen: Andere/Allgemeine Empfehlungen (Freitext / Links) / Generelle ergänzende Referenz(en) (Bsp: PuMed-link / PMID)

Medikationsempfehlung - Terminologie: LOINC

WeiteresFormales

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

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.

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.

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.

Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

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.

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.

Identifikationsnummer des Berichtes

Anhänge z.B. Tabellarische Übersicht Panel

Berichtstatus (z.B. vorab oder final)

Datum des Berichtes /Zeitstempel (Bericht verfasst / freigegeben am)

LaborInstitutionAnsprechpartner

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

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.

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.

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.

Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

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.

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.

Labor-Akkreditierungen

Name Ansprechpartner (Titel - Nachname - Zuname - Vorname)

Adresszeile 1 & 2, Angabe von Stadt, Postleitzahl, Land

Angabe von Telefonnummer, Faxnummer und Email

LogicalModel des MII Moduls Molekulargenetischer Befundbericht

Probeninformation

Abgebildet im KDS Modul Person

Abgebildet im KDS Modul Biobank

Anforderung

Indikation

Indikation; (mögliche) Erkrankung Terminologien: ICD-10, SNOMED, Orpha, HPO - Bsp.: Verdacht auf… / Ausschluss von… / Mögliche Therapie für ...

Aktueller Gesundheitszustand; Angabe aktueller Beschwerden oder nachgewiesener Erkrankung - Terminologie: HPO

Krankengeschichte Familie

Anlageträgerstatus der Familie - Ist gefordert wenn Verwandte des Index-Falles ebenfalls sequenziert wurden - Terminologie: PED

Angabe zuvor durchgeführter relevanter Tests (inklusive z.B. Methode, getestete Gene, und Ergebnisse)

Informationen zur Person, die die molekulargenetischen Untersuchungen in Auftrag gibt

Angabe der zu testenden Gene

Der Einheitliche Bewertungsmaßstab definiert den Inhalt der abrechnungsfähigen vertragsärztlichen Leistungen Einheitlicher Bewertungsmaßstab (EBM): Angabe der Ziffern

Freitext für die Angabe von entweder originaler, unveränderter Anforderungstext, oder alternativ: zusätzliche Anforderungen oder angeforderter Test

Angabe des Datums der Anforderung

Bemerkungen

Methoden

Methode und Referenz zur Methode - beinhaltet alle sequenzbasierenden Analytik-Methoden, während nicht sequenzbasierende Aufarbeitungsmethoden in das Modul Pathologie zuzuordnen sind.

Relevante Parameter (Angabe von Primer / Zyklenanzahl, Panel)

Angaben verwendeter Geräte / Software / Kits inklusive Target enrichment für die Analyse (u.U. Angabe von Hersteller; Versionsnummer)

Angabe der getesteten Gene

Transkript Referenzsequenz (Ensembl und RefSeq)

Anzahl der Ablesungen eines bestimmten Nukleotids im Genom in einem Experiment

Intron spanning oder IVS (InterVening Sequence, z.B. Introns)

Start- und Endnukleotid

Sensitivität/Detektionslimit

Limitierungen/Bemerkungen, Freitext

Ergebnisse

Zusammenfassung

Veränderungen

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

Veränderung auf DNA-Level, formale Beschreibung mittels cHGVS

Genomische DNA Veränderung gHGVS

Transkript- ID (Code) - Terminologie: NCBI, Ensembl, GTR, LRG

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).

Referenzallel

Jedes alternative (ALT) Allel an dem untersuchten Lokus

Varianten-Typ bzw. Mutationsart - Terminologie: Sequence Ontology (include codes from http://sequenceontology.org where concept IsA SO:0002072)

Mutationskonsequenz (funktionell) - Terminologie: Sequence Ontology

Allelfrequenz

Ursprung der Variante

Varianten ID; eindeutige Beschreibung der Variante - Terminologie: ClinVar, HGMD, COSMIC, PMID, dbSNP

Chromosom

Exon

Variante - Terminologie: ISCN

Kopienzahlvariationen der betroffenen Gene

Somat. Mutationen / Mutationslast

Mikrosatelliteninstabilität

Rohdaten / Link auf die Datei/Dateien

Interpretation

Finale Interpretation / Einschätzung

Referenzen

Clinical Annotation Level Of Evidence

Mit Präsenz einer Variante assoziierter Phänotyp

Art der Vererbung für beschriebenen Phänotyp

Zusammenfassung als Freitext, kann inhaltlich folgende Punkte beinhalten: Antwort auf ursprüngliche Fragestellung ausformuliert Therapeutikum/Wirkstoff/Wirkstoffklasse Effekt/Auswirkung

Medikamentenbewertung

Empfehlungen: Andere/Allgemeine Empfehlungen (Freitext / Links) / Generelle ergänzende Referenz(en) (Bsp: PuMed-link / PMID)

Medikationsempfehlung - Terminologie: LOINC

WeiteresFormales

Identifikationsnummer des Berichtes

Anhänge z.B. Tabellarische Übersicht Panel

Berichtstatus (z.B. vorab oder final)

Datum des Berichtes /Zeitstempel (Bericht verfasst / freigegeben am)

LaborInstitutionAnsprechpartner

Labor-Akkreditierungen

Name Ansprechpartner (Titel - Nachname - Zuname - Vorname)

Adresszeile 1 & 2, Angabe von Stadt, Postleitzahl, Land

Angabe von Telefonnummer, Faxnummer und Email

LogicalModel des MII Moduls Molekulargenetischer Befundbericht

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

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.

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.

Probeninformation

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

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.

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.

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.

Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

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.

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.

Abgebildet im KDS Modul Person

Abgebildet im KDS Modul Biobank

Anforderung

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

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.

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.

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.

Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

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.

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.

Indikation

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

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.

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.

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.

Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

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.

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.

Indikation; (mögliche) Erkrankung Terminologien: ICD-10, SNOMED, Orpha, HPO - Bsp.: Verdacht auf… / Ausschluss von… / Mögliche Therapie für ...

Aktueller Gesundheitszustand; Angabe aktueller Beschwerden oder nachgewiesener Erkrankung - Terminologie: HPO

Krankengeschichte Familie

Anlageträgerstatus der Familie - Ist gefordert wenn Verwandte des Index-Falles ebenfalls sequenziert wurden - Terminologie: PED

Angabe zuvor durchgeführter relevanter Tests (inklusive z.B. Methode, getestete Gene, und Ergebnisse)

Informationen zur Person, die die molekulargenetischen Untersuchungen in Auftrag gibt

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

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.

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.

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.

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.

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.

The 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).

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.

Aa resource (or, for logical models, the URI of the logical model).

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.

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.

When 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

Applications converting a logical reference to a literal reference may choose to leave the logical reference present, or remove it.

Reference 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).

Plain text narrative that identifies the resource in addition to the resource reference.

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.

Angabe der zu testenden Gene

Der Einheitliche Bewertungsmaßstab definiert den Inhalt der abrechnungsfähigen vertragsärztlichen Leistungen Einheitlicher Bewertungsmaßstab (EBM): Angabe der Ziffern

Freitext für die Angabe von entweder originaler, unveränderter Anforderungstext, oder alternativ: zusätzliche Anforderungen oder angeforderter Test

Angabe des Datums der Anforderung

Bemerkungen

Methoden

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

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.

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.

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.

Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

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.

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.

Methode und Referenz zur Methode - beinhaltet alle sequenzbasierenden Analytik-Methoden, während nicht sequenzbasierende Aufarbeitungsmethoden in das Modul Pathologie zuzuordnen sind.

Relevante Parameter (Angabe von Primer / Zyklenanzahl, Panel)

Angaben verwendeter Geräte / Software / Kits inklusive Target enrichment für die Analyse (u.U. Angabe von Hersteller; Versionsnummer)

Angabe der getesteten Gene

Transkript Referenzsequenz (Ensembl und RefSeq)

Anzahl der Ablesungen eines bestimmten Nukleotids im Genom in einem Experiment

Intron spanning oder IVS (InterVening Sequence, z.B. Introns)

Start- und Endnukleotid

Sensitivität/Detektionslimit

Limitierungen/Bemerkungen, Freitext

Ergebnisse

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

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.

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.

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.

Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).

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.

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.

Zusammenfassung

Veränderungen

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.