MII_IG_MolGen_1

Datensätze inkl. Beschreibungen

Die Datenelemente im Bereich Indikation / Anforderung beschreiben das Ziel der angeforderten Untersuchung und den relevanten Kontext inklusive zuvor durchgeführter Tests und falls zutreffend bereits bekannte familiäre Prädispositionen.

Zu den Datenelemente, die im Abschnitt Methoden beschrieben werden, gehören sequenzbasierte Analytik-Methoden.

Auf Grundlage der Analyse werden Aussagen zu den erbrachten Ergebnissen innerhalb der Ergebnisse gemacht.

Zum Schluss werden die Ergebnisse im Bereich Interpretation / Expertenmeinung ausgewertet und interpretiert.

In der thematischen Gruppierung Weiteres / Formales finden sich zusätzliche Bemerkungen, Informationen zu dem Test-durchführenden Labor und abrechnugsrelevante Daten.

Name	Canonical
MII_LM_MolGen_LogicalModel	https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/LogicalModelMolGen

MII_LM_MolGen_LogicalModel (LogicalModelMolGen)			Element	Element id LogicalModelMolGen Short description MII LM MolGen LogicalModel Definition LogicalModel des MII Moduls Molekulargenetischer Befundbericht Data type Element Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a
id		0..1	string	There are no (further) constraints on this element Element id LogicalModelMolGen.id Short description 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. Data type string Mappings rim: n/a
extension	C	0..*	Extension	There are no (further) constraints on this element Element id LogicalModelMolGen.extension Short description Additional content defined by implementations Alternate names extensions, user content 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. Comments 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. Data type Extension Slicing Unordered, Open, by url(Value) Extensions are always sliced by (at least) url Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: n/a
Probeninformation		1..1	BackboneElement	Element id LogicalModelMolGen.Probeninformation Short description Probeninformation Definition Probeninformation Data type BackboneElement Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a
id		0..1	string	There are no (further) constraints on this element Element id LogicalModelMolGen.Probeninformation.id Short description 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. Data type string Mappings rim: n/a
extension	C	0..*	Extension	There are no (further) constraints on this element Element id LogicalModelMolGen.Probeninformation.extension Short description Additional content defined by implementations Alternate names extensions, user content 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. Comments 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. Data type Extension Slicing Unordered, Open, by url(Value) Extensions are always sliced by (at least) url Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: n/a
modifierExtension	Σ ?! C	0..*	Extension	There are no (further) constraints on this element Element id LogicalModelMolGen.Probeninformation.modifierExtension Short description Extensions that cannot be ignored even if unrecognized Alternate names extensions, user content, modifiers 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. Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself). 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. Comments 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. Data type Extension Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: N/A
Patient	C	1..1	Reference(Patient)	Element id LogicalModelMolGen.Probeninformation.Patient Short description Patient Definition Abgebildet im KDS Modul Person Comments 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. Data type Reference(Patient) Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ref-1: SHALL have a contained resource if a local reference is provided `reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))` Mappings rim: n/a rim: The target of a resource reference is a RIM entry point (Act, Role, or Entity) FHIR: Patient
Probe	C	0..*	Reference(Specimen)	Element id LogicalModelMolGen.Probeninformation.Probe Short description Probe Definition Abgebildet im KDS Modul Biobank Comments 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. Data type Reference(Specimen) Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ref-1: SHALL have a contained resource if a local reference is provided `reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))` Mappings rim: n/a rim: The target of a resource reference is a RIM entry point (Act, Role, or Entity) FHIR: Specimen
Anforderung		0..*	BackboneElement	Element id LogicalModelMolGen.Anforderung Short description Anforderung Definition Anforderung Data type BackboneElement Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a FHIR: ServiceRequest
id		0..1	string	There are no (further) constraints on this element Element id LogicalModelMolGen.Anforderung.id Short description 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. Data type string Mappings rim: n/a
extension	C	0..*	Extension	There are no (further) constraints on this element Element id LogicalModelMolGen.Anforderung.extension Short description Additional content defined by implementations Alternate names extensions, user content 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. Comments 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. Data type Extension Slicing Unordered, Open, by url(Value) Extensions are always sliced by (at least) url Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: n/a
modifierExtension	Σ ?! C	0..*	Extension	There are no (further) constraints on this element Element id LogicalModelMolGen.Anforderung.modifierExtension Short description Extensions that cannot be ignored even if unrecognized Alternate names extensions, user content, modifiers 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. Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself). 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. Comments 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. Data type Extension Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: N/A
Indikation		0..*	BackboneElement	Element id LogicalModelMolGen.Anforderung.Indikation Short description Indikation Definition Indikation Data type BackboneElement Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a
id		0..1	string	There are no (further) constraints on this element Element id LogicalModelMolGen.Anforderung.Indikation.id Short description 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. Data type string Mappings rim: n/a
extension	C	0..*	Extension	There are no (further) constraints on this element Element id LogicalModelMolGen.Anforderung.Indikation.extension Short description Additional content defined by implementations Alternate names extensions, user content 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. Comments 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. Data type Extension Slicing Unordered, Open, by url(Value) Extensions are always sliced by (at least) url Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: n/a
modifierExtension	Σ ?! C	0..*	Extension	There are no (further) constraints on this element Element id LogicalModelMolGen.Anforderung.Indikation.modifierExtension Short description Extensions that cannot be ignored even if unrecognized Alternate names extensions, user content, modifiers 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. Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself). 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. Comments 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. Data type Extension Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: N/A
Indikation		0..*	CodeableConcept	Element id LogicalModelMolGen.Anforderung.Indikation.Indikation Short description Indikation Definition Indikation; (mögliche) Erkrankung Terminologien: ICD-10, SNOMED, Orpha, HPO - Bsp.: Verdacht auf… / Ausschluss von… / Mögliche Therapie für ... Comments 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. Data type CodeableConcept Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD FHIR: ServiceRequest.reasonCode FHIR: ServiceRequest.reasonReference
Gesundheitszustand	C	0..*	Reference(Condition)	Element id LogicalModelMolGen.Anforderung.Indikation.Gesundheitszustand Short description Gesundheitszustand Definition Aktueller Gesundheitszustand; Angabe aktueller Beschwerden oder nachgewiesener Erkrankung - Terminologie: HPO Comments 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. Data type Reference(Condition) Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ref-1: SHALL have a contained resource if a local reference is provided `reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))` Mappings rim: n/a rim: The target of a resource reference is a RIM entry point (Act, Role, or Entity) FHIR: ServiceRequest.supportingInfo
KrankengeschichteFamilie	C	0..*	Reference(FamilyMemberHistory)	Element id LogicalModelMolGen.Anforderung.Indikation.KrankengeschichteFamilie Short description Krankengeschichte Familie Definition Krankengeschichte Familie Comments 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. Data type Reference(FamilyMemberHistory) Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ref-1: SHALL have a contained resource if a local reference is provided `reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))` Mappings rim: n/a rim: The target of a resource reference is a RIM entry point (Act, Role, or Entity) FHIR: FamilyMemberHistory
Anlagetraeger	C	0..*	Reference(FamilyMemberHistory \| Condition \| Observation)	Element id LogicalModelMolGen.Anforderung.Indikation.Anlagetraeger Short description Anlageträger Definition Anlageträgerstatus der Familie - Ist gefordert wenn Verwandte des Index-Falles ebenfalls sequenziert wurden - Terminologie: PED Comments 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. Data type Reference(FamilyMemberHistory \| Condition \| Observation) Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ref-1: SHALL have a contained resource if a local reference is provided `reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))` Mappings rim: n/a rim: The target of a resource reference is a RIM entry point (Act, Role, or Entity) FHIR: FamilyMemberHistory FHIR: Condition FHIR: Observation
RelevanteVorergebnisse	C	0..*	Reference(Condition \| Observation \| DiagnosticReport \| DocumentReference)	Element id LogicalModelMolGen.Anforderung.Indikation.RelevanteVorergebnisse Short description Relevante Vorergebnisse Definition Angabe zuvor durchgeführter relevanter Tests (inklusive z.B. Methode, getestete Gene, und Ergebnisse) Comments 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. Data type Reference(Condition \| Observation \| DiagnosticReport \| DocumentReference) Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ref-1: SHALL have a contained resource if a local reference is provided `reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))` Mappings rim: n/a rim: The target of a resource reference is a RIM entry point (Act, Role, or Entity) FHIR: Condition FHIR: Observation FHIR: DiagnosticReport FHIR: DocumentReference
Anforderer	C	0..*	Reference(Practitioner \| PractitionerRole \| Organization \| Patient \| RelatedPerson \| Device)	Element id LogicalModelMolGen.Anforderung.Anforderer Short description Anforderer Definition Informationen zur Person, die die molekulargenetischen Untersuchungen in Auftrag gibt Comments 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. Data type Reference(Practitioner \| PractitionerRole \| Organization \| Patient \| RelatedPerson \| Device) Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ref-1: SHALL have a contained resource if a local reference is provided `reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))` Mappings rim: n/a rim: The target of a resource reference is a RIM entry point (Act, Role, or Entity) FHIR: Practitioner FHIR: PractitionerRole FHIR: Organization
id		0..1	string	There are no (further) constraints on this element Element id LogicalModelMolGen.Anforderung.Anforderer.id Short description 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. Data type string Mappings rim: n/a
extension	C	0..*	Extension	There are no (further) constraints on this element Element id LogicalModelMolGen.Anforderung.Anforderer.extension Short description Additional content defined by implementations Alternate names extensions, user content 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. Comments 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. Data type Extension Slicing Unordered, Open, by url(Value) Extensions are always sliced by (at least) url Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: n/a
reference	Σ C	0..1	string	There are no (further) constraints on this element Element id LogicalModelMolGen.Anforderung.Anforderer.reference Short description 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. Comments 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. Data type string Conditions The cardinality or value of this element may be affected by these constraints: ref-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: N/A
type	Σ	0..1	uriBinding	There are no (further) constraints on this element Element id LogicalModelMolGen.Anforderung.Anforderer.type Short description 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. 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). Comments 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. Data type uri Binding Aa resource (or, for logical models, the URI of the logical model). ResourceType (extensible) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: N/A
identifier	Σ	0..1	Identifier	There are no (further) constraints on this element Element id LogicalModelMolGen.Anforderung.Anforderer.identifier Short description 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. Comments 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). Data type Identifier Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: .identifier
display	Σ	0..1	string	There are no (further) constraints on this element Element id LogicalModelMolGen.Anforderung.Anforderer.display Short description Text alternative for the resource Definition Plain text narrative that identifies the resource in addition to the resource reference. Comments 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. Data type string Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: N/A
ZuTestendeGene		0..*	CodeableConcept	Element id LogicalModelMolGen.Anforderung.Anforderer.ZuTestendeGene Short description Zu testende Gene Definition Angabe der zu testenden Gene Comments 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. Data type CodeableConcept Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD FHIR: ServiceRequest.code
EinheitlicherBewertungsmassstab	C	0..*	Reference(ChargeItem)	Element id LogicalModelMolGen.Anforderung.Anforderer.EinheitlicherBewertungsmassstab Short description Einheitlicher Bewertungsmaßstab Definition Der Einheitliche Bewertungsmaßstab definiert den Inhalt der abrechnungsfähigen vertragsärztlichen Leistungen Einheitlicher Bewertungsmaßstab (EBM): Angabe der Ziffern Comments 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. Data type Reference(ChargeItem) Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ref-1: SHALL have a contained resource if a local reference is provided `reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))` Mappings rim: n/a rim: The target of a resource reference is a RIM entry point (Act, Role, or Entity) FHIR: ChargeItem
Anforderungstext		0..1	string	Element id LogicalModelMolGen.Anforderung.Anforderer.Anforderungstext Short description Anforderungstext Definition Freitext für die Angabe von entweder originaler, unveränderter Anforderungstext, oder alternativ: zusätzliche Anforderungen oder angeforderter Test Comments Note that FHIR strings SHALL NOT exceed 1MB in size Data type string Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings FHIR: ServiceRequest.code.text
DatumDerAnforderung		0..1	dateTime	Element id LogicalModelMolGen.Anforderung.DatumDerAnforderung Short description Datum der Anforderung Definition Angabe des Datums der Anforderung Data type dateTime Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings FHIR: ServiceRequest.authoredOn
Bemerkungen		0..1	Annotation	Element id LogicalModelMolGen.Anforderung.Bemerkungen Short description Bemerkungen Definition Bemerkungen Comments 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). Data type Annotation Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: N/A rim: Act FHIR: ServiceRequest.note
Methoden		0..*	BackboneElement	Element id LogicalModelMolGen.Methoden Short description Methoden Definition Methoden Data type BackboneElement Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a
id		0..1	string	There are no (further) constraints on this element Element id LogicalModelMolGen.Methoden.id Short description 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. Data type string Mappings rim: n/a
extension	C	0..*	Extension	There are no (further) constraints on this element Element id LogicalModelMolGen.Methoden.extension Short description Additional content defined by implementations Alternate names extensions, user content 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. Comments 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. Data type Extension Slicing Unordered, Open, by url(Value) Extensions are always sliced by (at least) url Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: n/a
modifierExtension	Σ ?! C	0..*	Extension	There are no (further) constraints on this element Element id LogicalModelMolGen.Methoden.modifierExtension Short description Extensions that cannot be ignored even if unrecognized Alternate names extensions, user content, modifiers 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. Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself). 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. Comments 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. Data type Extension Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: N/A
Methode		0..1	CodeableConcept	Element id LogicalModelMolGen.Methoden.Methode Short description Methode Definition Methode und Referenz zur Methode - beinhaltet alle sequenzbasierenden Analytik-Methoden, während nicht sequenzbasierende Aufarbeitungsmethoden in das Modul Pathologie zuzuordnen sind. Comments 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. Data type CodeableConcept Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD FHIR: Observation.method
RelevanteParameter	C	0..*	Reference(Observation \| DocumentReference)	Element id LogicalModelMolGen.Methoden.RelevanteParameter Short description Relevante Parameter Definition Relevante Parameter (Angabe von Primer / Zyklenanzahl, Panel) Comments 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. Data type Reference(Observation \| DocumentReference) Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ref-1: SHALL have a contained resource if a local reference is provided `reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))` Mappings rim: n/a rim: The target of a resource reference is a RIM entry point (Act, Role, or Entity) FHIR: Observation FHIR: DocumentReference
GeraeteSoftwareKits	C	0..1	Reference(Device)	Element id LogicalModelMolGen.Methoden.GeraeteSoftwareKits Short description Geräte / Software / Kits Definition Angaben verwendeter Geräte / Software / Kits inklusive Target enrichment für die Analyse (u.U. Angabe von Hersteller; Versionsnummer) Comments 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. Data type Reference(Device) Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ref-1: SHALL have a contained resource if a local reference is provided `reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))` Mappings rim: n/a rim: The target of a resource reference is a RIM entry point (Act, Role, or Entity) FHIR: Device
GetesteteGene		0..*	CodeableConcept	Element id LogicalModelMolGen.Methoden.GetesteteGene Short description Getestete Gene Definition Angabe der getesteten Gene Comments 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. Data type CodeableConcept Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD FHIR: Observation.component:gene-studied
Referenzsequenz		0..1	CodeableConcept	Element id LogicalModelMolGen.Methoden.Referenzsequenz Short description Referenzsequenz Definition Transkript Referenzsequenz (Ensembl und RefSeq) Comments 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. Data type CodeableConcept Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD FHIR: Observation.component:transcript-ref-seq
ReadDepthCoverage		0..1	CodeableConcept	Element id LogicalModelMolGen.Methoden.ReadDepthCoverage Short description Read depth/Coverage Definition Anzahl der Ablesungen eines bestimmten Nukleotids im Genom in einem Experiment Comments 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. Data type CodeableConcept Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD FHIR: Observation.component:allelic-read-depth
IntronSpanningIVS		0..*	string	Element id LogicalModelMolGen.Methoden.IntronSpanningIVS Short description Intron spanning / IVS Definition Intron spanning oder IVS (InterVening Sequence, z.B. Introns) Comments Note that FHIR strings SHALL NOT exceed 1MB in size Data type string Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings FHIR: Observation.component:dna-region
StartUndEndnukleotid	C	0..1	Range	Element id LogicalModelMolGen.Methoden.StartUndEndnukleotid Short description Start- und Endnukleotid Definition Start- und Endnukleotid Comments 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. Data type Range Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` rng-2: If present, low SHALL have a lower value than high `low.empty() or high.empty() or (low <= high)` Mappings rim: n/a v2: NR and also possibly SN (but see also quantity) rim: IVL<QTY[not(type="TS")]> [lowClosed="true" and highClosed="true"]or URG<QTY[not(type="TS")]> FHIR: Observation.component:exact-start-end
SensitivitaetDetektionslimit	C	0..1	Quantity	Element id LogicalModelMolGen.Methoden.SensitivitaetDetektionslimit Short description Sensitivität/Detektionslimit Definition Sensitivität/Detektionslimit Comments 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. Data type Quantity Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` qty-3: If a code for the unit is present, the system SHALL also be present `code.empty() or system.exists()` Mappings rim: n/a v2: SN (see also Range) or CQ rim: PQ, IVL<PQ>, MO, CO, depending on the values FHIR: Observation.component:detection-limit
LimitierungenBemerkungen		0..*	Annotation	Element id LogicalModelMolGen.Methoden.LimitierungenBemerkungen Short description Limitierungen/Bemerkungen Definition Limitierungen/Bemerkungen, Freitext Comments 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). Data type Annotation Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: N/A rim: Act FHIR: Observation.note
Ergebnisse		0..*	BackboneElement	Element id LogicalModelMolGen.Ergebnisse Short description Ergebnisse Definition Ergebnisse Data type BackboneElement Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a
id		0..1	string	There are no (further) constraints on this element Element id LogicalModelMolGen.Ergebnisse.id Short description 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. Data type string Mappings rim: n/a
extension	C	0..*	Extension	There are no (further) constraints on this element Element id LogicalModelMolGen.Ergebnisse.extension Short description Additional content defined by implementations Alternate names extensions, user content 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. Comments 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. Data type Extension Slicing Unordered, Open, by url(Value) Extensions are always sliced by (at least) url Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: n/a
modifierExtension	Σ ?! C	0..*	Extension	There are no (further) constraints on this element Element id LogicalModelMolGen.Ergebnisse.modifierExtension Short description Extensions that cannot be ignored even if unrecognized Alternate names extensions, user content, modifiers 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. Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself). 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. Comments 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. Data type Extension Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: N/A
Zusammenfassung		0..1	CodeableConceptBinding	Element id LogicalModelMolGen.Ergebnisse.Zusammenfassung Short description Zusammenfassung Definition Zusammenfassung Comments 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. Data type CodeableConcept Binding http://loinc.org/vs/LL541-4 (required) Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD FHIR: Observation.valueCodeableConcept
Veraenderungen		0..*	BackboneElement	Element id LogicalModelMolGen.Ergebnisse.Veraenderungen Short description Veränderungen Definition Veränderungen Data type BackboneElement Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a
id		0..1	string	There are no (further) constraints on this element Element id LogicalModelMolGen.Ergebnisse.Veraenderungen.id Short description 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. Data type string Mappings rim: n/a
extension	C	0..*	Extension	There are no (further) constraints on this element Element id LogicalModelMolGen.Ergebnisse.Veraenderungen.extension Short description Additional content defined by implementations Alternate names extensions, user content 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. Comments 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. Data type Extension Slicing Unordered, Open, by url(Value) Extensions are always sliced by (at least) url Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: n/a
modifierExtension	Σ ?! C	0..*	Extension	There are no (further) constraints on this element Element id LogicalModelMolGen.Ergebnisse.Veraenderungen.modifierExtension Short description Extensions that cannot be ignored even if unrecognized Alternate names extensions, user content, modifiers 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. Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself). 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. Comments 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. Data type Extension Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: N/A
VeraenderungProteinebene		0..1	CodeableConcept	Element id LogicalModelMolGen.Ergebnisse.Veraenderungen.VeraenderungProteinebene Short description 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 Comments 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. Data type CodeableConcept Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD FHIR: Observation.component:protein-hgvs
DNAVeraenderungen		0..1	CodeableConcept	Element id LogicalModelMolGen.Ergebnisse.Veraenderungen.DNAVeraenderungen Short description Veränderung auf DNA-Level, formale Beschreibung mittels cHGVS Definition Veränderung auf DNA-Level, formale Beschreibung mittels cHGVS Comments 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. Data type CodeableConcept Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD FHIR: Observation.component:coding-hgvs
GenomischeDNAVeraenderung		0..1	CodeableConcept	Element id LogicalModelMolGen.Ergebnisse.Veraenderungen.GenomischeDNAVeraenderung Short description Genomische DNA Veränderung gHGVS Definition Genomische DNA Veränderung gHGVS Comments 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. Data type CodeableConcept Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD FHIR: Observation.component:genomic-hgvs
TranskriptID		0..1	CodeableConcept	Element id LogicalModelMolGen.Ergebnisse.Veraenderungen.TranskriptID Short description Transkript- ID (Code) - Terminologie: NCBI, Ensembl, GTR, LRG Definition Transkript- ID (Code) - Terminologie: NCBI, Ensembl, GTR, LRG Comments 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. Data type CodeableConcept Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD FHIR: Observation.component:transcript-ref-seq
Referenzgenom		0..*	CodeableConcept	Element id LogicalModelMolGen.Ergebnisse.Veraenderungen.Referenzgenom Short description 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). Comments 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. Data type CodeableConcept Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD FHIR: Observation.component:reference-sequence-assembly
RefAllel		0..1	string	Element id LogicalModelMolGen.Ergebnisse.Veraenderungen.RefAllel Short description Referenzallel Definition Referenzallel Comments Note that FHIR strings SHALL NOT exceed 1MB in size Data type string Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings FHIR: Observation.component:ref-allele
AltAllel		0..1	string	Element id LogicalModelMolGen.Ergebnisse.Veraenderungen.AltAllel Short description Jedes alternative (ALT) Allel an dem untersuchten Lokus Definition Jedes alternative (ALT) Allel an dem untersuchten Lokus Comments Note that FHIR strings SHALL NOT exceed 1MB in size Data type string Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings FHIR: Observation.component:alt-allele
DNAMutationstyp		0..1	CodeableConcept	Element id LogicalModelMolGen.Ergebnisse.Veraenderungen.DNAMutationstyp Short description 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) Comments 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. Data type CodeableConcept Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD FHIR: Observation.component:coding-change-type
MutationskonsequenzFunktionell		0..1	CodeableConceptBinding	Element id LogicalModelMolGen.Ergebnisse.Veraenderungen.MutationskonsequenzFunktionell Short description Mutationskonsequenz (funktionell) - Terminologie: Sequence Ontology Definition Mutationskonsequenz (funktionell) - Terminologie: Sequence Ontology Comments 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. Data type CodeableConcept Binding http://loinc.org/vs/LL380-7 (required) Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD FHIR: Observation.component:amino-acid-change-type
ProbenAllelfrequenz	C	0..1	Quantity	Element id LogicalModelMolGen.Ergebnisse.Veraenderungen.ProbenAllelfrequenz Short description Allelfrequenz Definition Allelfrequenz Comments 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. Data type Quantity Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` qty-3: If a code for the unit is present, the system SHALL also be present `code.empty() or system.exists()` Mappings rim: n/a v2: SN (see also Range) or CQ rim: PQ, IVL<PQ>, MO, CO, depending on the values FHIR: Observation.component:sample-allelic-frequency
UrsprungDerVariante		0..1	CodeableConceptBinding	Element id LogicalModelMolGen.Ergebnisse.Veraenderungen.UrsprungDerVariante Short description Ursprung der Variante Definition Ursprung der Variante Comments 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. Data type CodeableConcept Binding http://loinc.org/vs/LL378-1 (required) Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD FHIR: Observation.component:genomic-source-class
VariantenID		0..*	CodeableConcept	Element id LogicalModelMolGen.Ergebnisse.Veraenderungen.VariantenID Short description 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 Comments 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. Data type CodeableConcept Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD FHIR: Observation.component:variation-code
Chromosom		0..*	CodeableConceptBinding	Element id LogicalModelMolGen.Ergebnisse.Veraenderungen.Chromosom Short description Chromosom Definition Chromosom Comments 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. Data type CodeableConcept Binding http://loinc.org/vs/LL2938-0 (required) Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD FHIR: Observation.component:chromosome-identifier
Exon		0..*	string	Element id LogicalModelMolGen.Ergebnisse.Veraenderungen.Exon Short description Exon Definition Exon Comments Note that FHIR strings SHALL NOT exceed 1MB in size Data type string Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings FHIR: Observation.component:dna-region
ZytogenetischeLokalisierung		0..*	CodeableConcept	Element id LogicalModelMolGen.Ergebnisse.Veraenderungen.ZytogenetischeLokalisierung Short description Variante - Terminologie: ISCN Definition Variante - Terminologie: ISCN Comments 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. Data type CodeableConcept Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD FHIR: Observation.component:cytogenetic-location
Kopienzahlvariationen	C	0..1	Quantity	Element id LogicalModelMolGen.Ergebnisse.Veraenderungen.Kopienzahlvariationen Short description Kopienzahlvariationen der betroffenen Gene Definition Kopienzahlvariationen der betroffenen Gene Comments 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. Data type Quantity Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` qty-3: If a code for the unit is present, the system SHALL also be present `code.empty() or system.exists()` Mappings rim: n/a v2: SN (see also Range) or CQ rim: PQ, IVL<PQ>, MO, CO, depending on the values FHIR: Observation.component:copy-number
Mutationslast	C	0..1	Quantity	Element id LogicalModelMolGen.Ergebnisse.Mutationslast Short description Somat. Mutationen / Mutationslast Definition Somat. Mutationen / Mutationslast Comments 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. Data type Quantity Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` qty-3: If a code for the unit is present, the system SHALL also be present `code.empty() or system.exists()` Mappings rim: n/a v2: SN (see also Range) or CQ rim: PQ, IVL<PQ>, MO, CO, depending on the values FHIR: Observation.valueQuantity
Mikrosatelliteninstabilitaet		0..1	CodeableConceptBinding	Element id LogicalModelMolGen.Ergebnisse.Mikrosatelliteninstabilitaet Short description Mikrosatelliteninstabilität Definition Mikrosatelliteninstabilität Comments 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. Data type CodeableConcept Binding http://loinc.org/vs/LL3994-2 (extensible) Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD FHIR: Observation.valueCodeableConcept
Daten	C	0..*	Reference(DocumentReference)	Element id LogicalModelMolGen.Ergebnisse.Daten Short description Rohdaten / Link auf die Datei/Dateien Definition Rohdaten / Link auf die Datei/Dateien Comments 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. Data type Reference(DocumentReference) Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ref-1: SHALL have a contained resource if a local reference is provided `reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))` Mappings rim: n/a rim: The target of a resource reference is a RIM entry point (Act, Role, or Entity) FHIR: DocumentReference
Interpretation		0..*	BackboneElement	Element id LogicalModelMolGen.Interpretation Short description Interpretation Definition Interpretation Data type BackboneElement Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a
id		0..1	string	There are no (further) constraints on this element Element id LogicalModelMolGen.Interpretation.id Short description 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. Data type string Mappings rim: n/a
extension	C	0..*	Extension	There are no (further) constraints on this element Element id LogicalModelMolGen.Interpretation.extension Short description Additional content defined by implementations Alternate names extensions, user content 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. Comments 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. Data type Extension Slicing Unordered, Open, by url(Value) Extensions are always sliced by (at least) url Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: n/a
modifierExtension	Σ ?! C	0..*	Extension	There are no (further) constraints on this element Element id LogicalModelMolGen.Interpretation.modifierExtension Short description Extensions that cannot be ignored even if unrecognized Alternate names extensions, user content, modifiers 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. Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself). 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. Comments 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. Data type Extension Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: N/A
KlinischeSignifikanz		0..1	CodeableConceptBinding	Element id LogicalModelMolGen.Interpretation.KlinischeSignifikanz Short description Finale Interpretation / Einschätzung Definition Finale Interpretation / Einschätzung Comments 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. Data type CodeableConcept Binding http://loinc.org/vs/LL4034-6 (extensible) Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD FHIR: Observation.component:clinical-significance
Referenzen		0..*	RelatedArtifact	Element id LogicalModelMolGen.Interpretation.Referenzen Short description Referenzen Definition Referenzen Comments Each related artifact is either an attachment, or a reference to another knowledge resource, but not both. Data type RelatedArtifact Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a FHIR: RelatedArtifact
ClinicalAnnotationLevelOfEvidence		0..*	CodeableConcept	Element id LogicalModelMolGen.Interpretation.ClinicalAnnotationLevelOfEvidence Short description Clinical Annotation Level Of Evidence Definition Clinical Annotation Level Of Evidence Comments 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. Data type CodeableConcept Binding EvidenceLevelExampleVS (example) Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD FHIR: Observation.component:evidence-level
AssoziierterPhaenotyp		0..*	CodeableConcept	Element id LogicalModelMolGen.Interpretation.AssoziierterPhaenotyp Short description Mit Präsenz einer Variante assoziierter Phänotyp Definition Mit Präsenz einer Variante assoziierter Phänotyp Comments 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. Data type CodeableConcept Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD FHIR: Observation.component:predicted-phenotype FHIR: Observation.component:phenotypic-treatment-context
Vererbungsmodus		0..1	CodeableConceptBinding	Element id LogicalModelMolGen.Interpretation.Vererbungsmodus Short description Art der Vererbung für beschriebenen Phänotyp Definition Art der Vererbung für beschriebenen Phänotyp Comments 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. Data type CodeableConcept Binding ConditionInheritanceModeVS (preferred) Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD FHIR: Observation.component:mode-of-inheritance
Zusammenfassung		0..1	string	Element id LogicalModelMolGen.Interpretation.Zusammenfassung Short description 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 Comments Note that FHIR strings SHALL NOT exceed 1MB in size Data type string Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings FHIR: Observation.component:conclusion-string
Medikamentenbewertung		0..*	CodeableConcept	Element id LogicalModelMolGen.Interpretation.Medikamentenbewertung Short description Medikamentenbewertung Definition Medikamentenbewertung Comments 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. Data type CodeableConcept Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD
Empfehlungen		0..1	CodeableConceptBinding	Element id LogicalModelMolGen.Interpretation.Empfehlungen Short description 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) Comments 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. Data type CodeableConcept Binding http://loinc.org/vs/LL1037-2 (extensible) Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD FHIR: Task.code
Medikationsempfehlung		0..1	CodeableConceptBinding	Element id LogicalModelMolGen.Interpretation.Medikationsempfehlung Short description Medikationsempfehlung - Terminologie: LOINC Definition Medikationsempfehlung - Terminologie: LOINC Comments 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. Data type CodeableConcept Binding http://loinc.org/vs/LL4049-4 (required) Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD FHIR: Task.code
Weiteres		0..*	BackboneElement	Element id LogicalModelMolGen.Weiteres Short description WeiteresFormales Definition WeiteresFormales Data type BackboneElement Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a
id		0..1	string	There are no (further) constraints on this element Element id LogicalModelMolGen.Weiteres.id Short description 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. Data type string Mappings rim: n/a
extension	C	0..*	Extension	There are no (further) constraints on this element Element id LogicalModelMolGen.Weiteres.extension Short description Additional content defined by implementations Alternate names extensions, user content 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. Comments 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. Data type Extension Slicing Unordered, Open, by url(Value) Extensions are always sliced by (at least) url Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: n/a
modifierExtension	Σ ?! C	0..*	Extension	There are no (further) constraints on this element Element id LogicalModelMolGen.Weiteres.modifierExtension Short description Extensions that cannot be ignored even if unrecognized Alternate names extensions, user content, modifiers 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. Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself). 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. Comments 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. Data type Extension Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: N/A
BerichtID		0..*	Identifier	Element id LogicalModelMolGen.Weiteres.BerichtID Short description Identifikationsnummer des Berichtes Definition Identifikationsnummer des Berichtes Data type Identifier Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CX / EI (occasionally, more often EI maps to a resource id or a URL) rim: II - The Identifier class is a little looser than the v3 type II because it allows URIs as well as registered OIDs or GUIDs. Also maps to Role[classCode=IDENT] servd: Identifier FHIR: DiagnosticReport.identifier
Anhaenge	C	0..*	Reference(Media \| DocumentReference)	Element id LogicalModelMolGen.Weiteres.Anhaenge Short description Anhänge z.B. Tabellarische Übersicht Panel Definition Anhänge z.B. Tabellarische Übersicht Panel Comments 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. Data type Reference(Media \| DocumentReference) Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ref-1: SHALL have a contained resource if a local reference is provided `reference.startsWith('#').not() or (reference.substring(1).trace('url') in %rootResource.contained.id.trace('ids'))` Mappings rim: n/a rim: The target of a resource reference is a RIM entry point (Act, Role, or Entity) FHIR: Media FHIR: DocumentReference
Berichtstatus		1..1	codeBinding	Element id LogicalModelMolGen.Weiteres.Berichtstatus Short description Berichtstatus (z.B. vorab oder final) Definition Berichtstatus (z.B. vorab oder final) Data type code Binding DiagnosticReportStatus (required) Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings FHIR: DiagnosticReport.status
DatumDesBerichts		0..1	instant	Element id LogicalModelMolGen.Weiteres.DatumDesBerichts Short description Datum des Berichtes /Zeitstempel (Bericht verfasst / freigegeben am) Definition Datum des Berichtes /Zeitstempel (Bericht verfasst / freigegeben am) Comments 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 Data type instant Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings FHIR: DiagnosticReport.issued
LaborInstitutionAnsprechpartner		0..*	BackboneElement	Element id LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner Short description LaborInstitutionAnsprechpartner Definition LaborInstitutionAnsprechpartner Data type BackboneElement Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a FHIR: Practitioner FHIR: Organization FHIR: PractitionerRole
id		0..1	string	There are no (further) constraints on this element Element id LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.id Short description 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. Data type string Mappings rim: n/a
extension	C	0..*	Extension	There are no (further) constraints on this element Element id LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.extension Short description Additional content defined by implementations Alternate names extensions, user content 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. Comments 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. Data type Extension Slicing Unordered, Open, by url(Value) Extensions are always sliced by (at least) url Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: n/a
modifierExtension	Σ ?! C	0..*	Extension	There are no (further) constraints on this element Element id LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.modifierExtension Short description Extensions that cannot be ignored even if unrecognized Alternate names extensions, user content, modifiers 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. Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself). 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. Comments 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. Data type Extension Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` ext-1: Must have either extensions or value[x], not both `extension.exists() != value.exists()` Mappings rim: N/A
Laborakkreditierungen		0..*	CodeableConcept	Element id LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.Laborakkreditierungen Short description Labor-Akkreditierungen Definition Labor-Akkreditierungen Comments 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. Data type CodeableConcept Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: CE/CNE/CWE rim: CD orim: fhir:CodeableConcept rdfs:subClassOf dt:CD FHIR: Practitioner.qualification
NameAnsprechpartner		0..*	HumanName	Element id LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.NameAnsprechpartner Short description Name Ansprechpartner (Titel - Nachname - Zuname - Vorname) Definition Name Ansprechpartner (Titel - Nachname - Zuname - Vorname) Comments 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. Data type HumanName Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: XPN rim: EN (actually, PN) servd: ProviderName FHIR: Practitioner.name
Adresse		0..*	Address	Element id LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.Adresse Short description Adresszeile 1 & 2, Angabe von Stadt, Postleitzahl, Land Definition Adresszeile 1 & 2, Angabe von Stadt, Postleitzahl, Land Comments 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). Data type Address Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: XAD rim: AD servd: Address FHIR: Practitioner.address
Kontakt	C	0..*	ContactPoint	Element id LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.Kontakt Short description Angabe von Telefonnummer, Faxnummer und Email Definition Angabe von Telefonnummer, Faxnummer und Email Data type ContactPoint Conditions The cardinality or value of this element may be affected by these constraints: ele-1 Constraints cpt-2: A system is required if a value is provided. `value.empty() or system.exists()` ele-1: All FHIR elements must have a @value or children `hasValue() or (children().count() > id.count())` Mappings rim: n/a v2: XTN rim: TEL servd: ContactPoint FHIR: Practitioner.telecom

Datensatz	Erklaerung
LogicalModelMolGen	LogicalModel des MII Moduls Molekulargenetischer Befundbericht
LogicalModelMolGen.Probeninformation	Probeninformation
LogicalModelMolGen.Probeninformation.Patient	Abgebildet im KDS Modul Person
LogicalModelMolGen.Probeninformation.Probe	Abgebildet im KDS Modul Biobank
LogicalModelMolGen.Anforderung	Anforderung
LogicalModelMolGen.Anforderung.Indikation	Indikation
LogicalModelMolGen.Anforderung.Indikation.Indikation	Indikation; (mögliche) Erkrankung Terminologien: ICD-10, SNOMED, Orpha, HPO - Bsp.: Verdacht auf… / Ausschluss von… / Mögliche Therapie für ...
LogicalModelMolGen.Anforderung.Indikation.Gesundheitszustand	Aktueller Gesundheitszustand; Angabe aktueller Beschwerden oder nachgewiesener Erkrankung - Terminologie: HPO
LogicalModelMolGen.Anforderung.Indikation.KrankengeschichteFamilie	Krankengeschichte Familie
LogicalModelMolGen.Anforderung.Indikation.Anlagetraeger	Anlageträgerstatus der Familie - Ist gefordert wenn Verwandte des Index-Falles ebenfalls sequenziert wurden - Terminologie: PED
LogicalModelMolGen.Anforderung.Indikation.RelevanteVorergebnisse	Angabe zuvor durchgeführter relevanter Tests (inklusive z.B. Methode, getestete Gene, und Ergebnisse)
LogicalModelMolGen.Anforderung.Anforderer	Informationen zur Person, die die molekulargenetischen Untersuchungen in Auftrag gibt
LogicalModelMolGen.Anforderung.Anforderer.ZuTestendeGene	Angabe der zu testenden Gene
LogicalModelMolGen.Anforderung.Anforderer.EinheitlicherBewertungsmassstab	Der Einheitliche Bewertungsmaßstab definiert den Inhalt der abrechnungsfähigen vertragsärztlichen Leistungen Einheitlicher Bewertungsmaßstab (EBM): Angabe der Ziffern
LogicalModelMolGen.Anforderung.Anforderer.Anforderungstext	Freitext für die Angabe von entweder originaler, unveränderter Anforderungstext, oder alternativ: zusätzliche Anforderungen oder angeforderter Test
LogicalModelMolGen.Anforderung.DatumDerAnforderung	Angabe des Datums der Anforderung
LogicalModelMolGen.Anforderung.Bemerkungen	Bemerkungen
LogicalModelMolGen.Methoden	Methoden
LogicalModelMolGen.Methoden.Methode	Methode und Referenz zur Methode - beinhaltet alle sequenzbasierenden Analytik-Methoden, während nicht sequenzbasierende Aufarbeitungsmethoden in das Modul Pathologie zuzuordnen sind.
LogicalModelMolGen.Methoden.RelevanteParameter	Relevante Parameter (Angabe von Primer / Zyklenanzahl, Panel)
LogicalModelMolGen.Methoden.GeraeteSoftwareKits	Angaben verwendeter Geräte / Software / Kits inklusive Target enrichment für die Analyse (u.U. Angabe von Hersteller; Versionsnummer)
LogicalModelMolGen.Methoden.GetesteteGene	Angabe der getesteten Gene
LogicalModelMolGen.Methoden.Referenzsequenz	Transkript Referenzsequenz (Ensembl und RefSeq)
LogicalModelMolGen.Methoden.ReadDepthCoverage	Anzahl der Ablesungen eines bestimmten Nukleotids im Genom in einem Experiment
LogicalModelMolGen.Methoden.IntronSpanningIVS	Intron spanning oder IVS (InterVening Sequence, z.B. Introns)
LogicalModelMolGen.Methoden.StartUndEndnukleotid	Start- und Endnukleotid
LogicalModelMolGen.Methoden.SensitivitaetDetektionslimit	Sensitivität/Detektionslimit
LogicalModelMolGen.Methoden.LimitierungenBemerkungen	Limitierungen/Bemerkungen, Freitext
LogicalModelMolGen.Ergebnisse	Ergebnisse
LogicalModelMolGen.Ergebnisse.Zusammenfassung	Zusammenfassung
LogicalModelMolGen.Ergebnisse.Veraenderungen	Veränderungen
LogicalModelMolGen.Ergebnisse.Veraenderungen.VeraenderungProteinebene	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
LogicalModelMolGen.Ergebnisse.Veraenderungen.DNAVeraenderungen	Veränderung auf DNA-Level, formale Beschreibung mittels cHGVS
LogicalModelMolGen.Ergebnisse.Veraenderungen.GenomischeDNAVeraenderung	Genomische DNA Veränderung gHGVS
LogicalModelMolGen.Ergebnisse.Veraenderungen.TranskriptID	Transkript- ID (Code) - Terminologie: NCBI, Ensembl, GTR, LRG
LogicalModelMolGen.Ergebnisse.Veraenderungen.Referenzgenom	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).
LogicalModelMolGen.Ergebnisse.Veraenderungen.RefAllel	Referenzallel
LogicalModelMolGen.Ergebnisse.Veraenderungen.AltAllel	Jedes alternative (ALT) Allel an dem untersuchten Lokus
LogicalModelMolGen.Ergebnisse.Veraenderungen.DNAMutationstyp	Varianten-Typ bzw. Mutationsart - Terminologie: Sequence Ontology (include codes from http://sequenceontology.org where concept IsA SO:0002072)
LogicalModelMolGen.Ergebnisse.Veraenderungen.MutationskonsequenzFunktionell	Mutationskonsequenz (funktionell) - Terminologie: Sequence Ontology
LogicalModelMolGen.Ergebnisse.Veraenderungen.ProbenAllelfrequenz	Allelfrequenz
LogicalModelMolGen.Ergebnisse.Veraenderungen.UrsprungDerVariante	Ursprung der Variante
LogicalModelMolGen.Ergebnisse.Veraenderungen.VariantenID	Varianten ID; eindeutige Beschreibung der Variante - Terminologie: ClinVar, HGMD, COSMIC, PMID, dbSNP
LogicalModelMolGen.Ergebnisse.Veraenderungen.Chromosom	Chromosom
LogicalModelMolGen.Ergebnisse.Veraenderungen.Exon	Exon
LogicalModelMolGen.Ergebnisse.Veraenderungen.ZytogenetischeLokalisierung	Variante - Terminologie: ISCN
LogicalModelMolGen.Ergebnisse.Veraenderungen.Kopienzahlvariationen	Kopienzahlvariationen der betroffenen Gene
LogicalModelMolGen.Ergebnisse.Mutationslast	Somat. Mutationen / Mutationslast
LogicalModelMolGen.Ergebnisse.Mikrosatelliteninstabilitaet	Mikrosatelliteninstabilität
LogicalModelMolGen.Ergebnisse.Daten	Rohdaten / Link auf die Datei/Dateien
LogicalModelMolGen.Interpretation	Interpretation
LogicalModelMolGen.Interpretation.KlinischeSignifikanz	Finale Interpretation / Einschätzung
LogicalModelMolGen.Interpretation.Referenzen	Referenzen
LogicalModelMolGen.Interpretation.ClinicalAnnotationLevelOfEvidence	Clinical Annotation Level Of Evidence
LogicalModelMolGen.Interpretation.AssoziierterPhaenotyp	Mit Präsenz einer Variante assoziierter Phänotyp
LogicalModelMolGen.Interpretation.Vererbungsmodus	Art der Vererbung für beschriebenen Phänotyp
LogicalModelMolGen.Interpretation.Zusammenfassung	Zusammenfassung als Freitext, kann inhaltlich folgende Punkte beinhalten: Antwort auf ursprüngliche Fragestellung ausformuliert Therapeutikum/Wirkstoff/Wirkstoffklasse Effekt/Auswirkung
LogicalModelMolGen.Interpretation.Medikamentenbewertung	Medikamentenbewertung
LogicalModelMolGen.Interpretation.Empfehlungen	Empfehlungen: Andere/Allgemeine Empfehlungen (Freitext / Links) / Generelle ergänzende Referenz(en) (Bsp: PuMed-link / PMID)
LogicalModelMolGen.Interpretation.Medikationsempfehlung	Medikationsempfehlung - Terminologie: LOINC
LogicalModelMolGen.Weiteres	WeiteresFormales
LogicalModelMolGen.Weiteres.BerichtID	Identifikationsnummer des Berichtes
LogicalModelMolGen.Weiteres.Anhaenge	Anhänge z.B. Tabellarische Übersicht Panel
LogicalModelMolGen.Weiteres.Berichtstatus	Berichtstatus (z.B. vorab oder final)
LogicalModelMolGen.Weiteres.DatumDesBerichts	Datum des Berichtes /Zeitstempel (Bericht verfasst / freigegeben am)
LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner	LaborInstitutionAnsprechpartner
LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.Laborakkreditierungen	Labor-Akkreditierungen
LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.NameAnsprechpartner	Name Ansprechpartner (Titel - Nachname - Zuname - Vorname)
LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.Adresse	Adresszeile 1 & 2, Angabe von Stadt, Postleitzahl, Land
LogicalModelMolGen.Weiteres.LaborInstitutionAnsprechpartner.Kontakt	Angabe von Telefonnummer, Faxnummer und Email