Medizininformatik Initiative - Modul Molekulargenetischer Befundbericht - ImplementationGuide

Abgebildet im KDS Modul Person

References SHALL be a reference to an actual FHIR resource, and SHALL be resolveable (allowing for access control, temporary unavailability, etc.). Resolution can be either by retrieval from the URL, or, where applicable by resource type, by treating an absolute reference as a canonical URL and looking it up in a local registry/repository.

Abgebildet im KDS Modul Biobank

References SHALL be a reference to an actual FHIR resource, and SHALL be resolveable (allowing for access control, temporary unavailability, etc.). Resolution can be either by retrieval from the URL, or, where applicable by resource type, by treating an absolute reference as a canonical URL and looking it up in a local registry/repository.

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

Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination.

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

References SHALL be a reference to an actual FHIR resource, and SHALL be resolveable (allowing for access control, temporary unavailability, etc.). Resolution can be either by retrieval from the URL, or, where applicable by resource type, by treating an absolute reference as a canonical URL and looking it up in a local registry/repository.

Krankengeschichte Familie

References SHALL be a reference to an actual FHIR resource, and SHALL be resolveable (allowing for access control, temporary unavailability, etc.). Resolution can be either by retrieval from the URL, or, where applicable by resource type, by treating an absolute reference as a canonical URL and looking it up in a local registry/repository.

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

References SHALL be a reference to an actual FHIR resource, and SHALL be resolveable (allowing for access control, temporary unavailability, etc.). Resolution can be either by retrieval from the URL, or, where applicable by resource type, by treating an absolute reference as a canonical URL and looking it up in a local registry/repository.

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

References SHALL be a reference to an actual FHIR resource, and SHALL be resolveable (allowing for access control, temporary unavailability, etc.). Resolution can be either by retrieval from the URL, or, where applicable by resource type, by treating an absolute reference as a canonical URL and looking it up in a local registry/repository.

Angabe der zu testenden Gene

Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination.

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

References SHALL be a reference to an actual FHIR resource, and SHALL be resolveable (allowing for access control, temporary unavailability, etc.). Resolution can be either by retrieval from the URL, or, where applicable by resource type, by treating an absolute reference as a canonical URL and looking it up in a local registry/repository.

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

Note that FHIR strings SHALL NOT exceed 1MB in size

Angabe des Datums der Anforderung

Bemerkungen

For systems that do not have structured annotations, they can simply communicate a single annotation with no author or time. This element may need to be included in narrative because of the potential for modifying information. Annotations SHOULD NOT be used to communicate "modifying" information that could be computable. (This is a SHOULD because enforcing user behavior is nearly impossible).

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

Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination.

Relevante Parameter (Angabe von Primer / Zyklenanzahl, Panel)

References SHALL be a reference to an actual FHIR resource, and SHALL be resolveable (allowing for access control, temporary unavailability, etc.). Resolution can be either by retrieval from the URL, or, where applicable by resource type, by treating an absolute reference as a canonical URL and looking it up in a local registry/repository.

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

References SHALL be a reference to an actual FHIR resource, and SHALL be resolveable (allowing for access control, temporary unavailability, etc.). Resolution can be either by retrieval from the URL, or, where applicable by resource type, by treating an absolute reference as a canonical URL and looking it up in a local registry/repository.

Angabe der getesteten Gene

Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination.

Transkript Referenzsequenz (Ensembl und RefSeq)

Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination.

Anzahl der Ablesungen eines bestimmten Nukleotids im Genom in einem Experiment

Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination.

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

Note that FHIR strings SHALL NOT exceed 1MB in size

Start- und Endnukleotid

The stated low and high value are assumed to have arbitrarily high precision when it comes to determining which values are in the range. I.e. 1.99 is not in the range 2 -> 3.

Sensitivität/Detektionslimit

The context of use may frequently define what kind of quantity this is and therefore what kind of units can be used. The context of use may also restrict the values for the comparator.

Limitierungen/Bemerkungen, Freitext

For systems that do not have structured annotations, they can simply communicate a single annotation with no author or time. This element may need to be included in narrative because of the potential for modifying information. Annotations SHOULD NOT be used to communicate "modifying" information that could be computable. (This is a SHOULD because enforcing user behavior is nearly impossible).

Zusammenfassung

Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination.

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

Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination.

Veränderung auf DNA-Level, formale Beschreibung mittels cHGVS

Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination.

Genomische DNA Veränderung gHGVS

Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination.

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

Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination.

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).

Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination.

Referenzallel

Note that FHIR strings SHALL NOT exceed 1MB in size

Jedes alternative (ALT) Allel an dem untersuchten Lokus

Note that FHIR strings SHALL NOT exceed 1MB in size

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

Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination.

Mutationskonsequenz (funktionell) - Terminologie: Sequence Ontology

Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination.

Allelfrequenz

The context of use may frequently define what kind of quantity this is and therefore what kind of units can be used. The context of use may also restrict the values for the comparator.

Ursprung der Variante

Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination.

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

Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination.

Chromosom

Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination.

Exon

Note that FHIR strings SHALL NOT exceed 1MB in size

Variante - Terminologie: ISCN

Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination.

Kopienzahlvariationen der betroffenen Gene

The context of use may frequently define what kind of quantity this is and therefore what kind of units can be used. The context of use may also restrict the values for the comparator.

Somat. Mutationen / Mutationslast

The context of use may frequently define what kind of quantity this is and therefore what kind of units can be used. The context of use may also restrict the values for the comparator.

Mikrosatelliteninstabilität

Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination.

Rohdaten / Link auf die Datei/Dateien

References SHALL be a reference to an actual FHIR resource, and SHALL be resolveable (allowing for access control, temporary unavailability, etc.). Resolution can be either by retrieval from the URL, or, where applicable by resource type, by treating an absolute reference as a canonical URL and looking it up in a local registry/repository.

Finale Interpretation / Einschätzung

Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination.

Referenzen

Each related artifact is either an attachment, or a reference to another knowledge resource, but not both.

Clinical Annotation Level Of Evidence

Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination.

Mit Präsenz einer Variante assoziierter Phänotyp

Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination.

Art der Vererbung für beschriebenen Phänotyp

Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination.

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

Note that FHIR strings SHALL NOT exceed 1MB in size

Medikamentenbewertung

Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination.

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

Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination.

Medikationsempfehlung - Terminologie: LOINC

Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination.

Identifikationsnummer des Berichtes

Anhänge z.B. Tabellarische Übersicht Panel

References SHALL be a reference to an actual FHIR resource, and SHALL be resolveable (allowing for access control, temporary unavailability, etc.). Resolution can be either by retrieval from the URL, or, where applicable by resource type, by treating an absolute reference as a canonical URL and looking it up in a local registry/repository.

Berichtstatus (z.B. vorab oder final)

Note that FHIR strings SHALL NOT exceed 1MB in size

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

Note: This is intended for where precisely observed times are required, typically system logs etc., and not human-reported times - for them, see date and dateTime (which can be as precise as instant, but is not required to be) below. Time zone is always required

Labor-Akkreditierungen

Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination.

Name Ansprechpartner (Titel - Nachname - Zuname - Vorname)

Names may be changed, or repudiated, or people may have different names in different contexts. Names may be divided into parts of different type that have variable significance depending on context, though the division into parts does not always matter. With personal names, the different parts might or might not be imbued with some implicit meaning; various cultures associate different importance with the name parts and the degree to which systems must care about name parts around the world varies widely.

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

Note: address is intended to describe postal addresses for administrative purposes, not to describe absolute geographical coordinates. Postal addresses are often used as proxies for physical locations (also see the Location resource).

Angabe von Telefonnummer, Faxnummer und Email