MII Implementierungsleitfaden Kerndatensatz-Modul Molekulargenetischer Befundbericht
2027.0.0-ballot.1 -
Germany
MII Implementierungsleitfaden Kerndatensatz-Modul Molekulargenetischer Befundbericht
2027.0.0-ballot.1 -
Germany
MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht - Downloaded Version 2027.0.0-ballot.1 See the Directory of published versions
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value="https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-chargeitem-ebm-21"/>
<resource>
<ChargeItem>
<id value="mii-exa-molgen-chargeitem-ebm-21"/>
<meta>
<profile
value="http://fhir.de/StructureDefinition/chargeitem-de-ebm"/>
</meta>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<status value="billable"/>
<code>
<coding>
<system value="https://fhir.kbv.de/NamingSystem/KBV_NS_Base_EBM"/>
<code value="11513"/>
<display
value="Postnatale Mutationssuche zum Nachweis oder Ausschluss einer krankheitsrelevanten oder krankheitsauslösenden konstitutionellen genomischen Mutation"/>
</coding>
</code>
<subject>🔗
<reference value="Patient/mii-exa-molgen-patient-2"/>
</subject>
<quantity>
<value value="72"/>
</quantity>
</ChargeItem>
</resource>
<request>
<method value="PUT"/>
<url value="ChargeItem/mii-exa-molgen-chargeitem-ebm-21"/>
</request>
</entry>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-chargeitem-ebm-22"/>
<resource>
<ChargeItem>
<id value="mii-exa-molgen-chargeitem-ebm-22"/>
<meta>
<profile
value="http://fhir.de/StructureDefinition/chargeitem-de-ebm"/>
</meta>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<status value="billable"/>
<code>
<coding>
<system value="https://fhir.kbv.de/NamingSystem/KBV_NS_Base_EBM"/>
<code value="11512"/>
<display
value="Gezielter Nachweis oder Ausschluss von krankheitsrelevanten oder krankheitsauslösenden großen Deletionen und/oder Duplikationen"/>
</coding>
</code>
<subject>🔗
<reference value="Patient/mii-exa-molgen-patient-2"/>
</subject>
<quantity>
<value value="6"/>
</quantity>
</ChargeItem>
</resource>
<request>
<method value="PUT"/>
<url value="ChargeItem/mii-exa-molgen-chargeitem-ebm-22"/>
</request>
</entry>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-chargeitem-ebm-23"/>
<resource>
<ChargeItem>
<id value="mii-exa-molgen-chargeitem-ebm-23"/>
<meta>
<profile
value="http://fhir.de/StructureDefinition/chargeitem-de-ebm"/>
</meta>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<status value="billable"/>
<code>
<coding>
<system value="https://fhir.kbv.de/NamingSystem/KBV_NS_Base_EBM"/>
<code value="11302"/>
<display
value="Zuschlag für Gemeinkosten und die wissenschaftliche ärztliche Beurteilung und Befundung komplexer genetischer Analysen im individuellen klinischen Kontext bei seltenen Erkrankungen"/>
</coding>
</code>
<subject>🔗
<reference value="Patient/mii-exa-molgen-patient-2"/>
</subject>
<quantity>
<value value="1"/>
</quantity>
</ChargeItem>
</resource>
<request>
<method value="PUT"/>
<url value="ChargeItem/mii-exa-molgen-chargeitem-ebm-23"/>
</request>
</entry>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-chargeitem-ebm-24"/>
<resource>
<ChargeItem>
<id value="mii-exa-molgen-chargeitem-ebm-24"/>
<meta>
<profile
value="http://fhir.de/StructureDefinition/chargeitem-de-ebm"/>
</meta>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<status value="billable"/>
<code>
<coding>
<system value="https://fhir.kbv.de/NamingSystem/KBV_NS_Base_EBM"/>
<code value="11301"/>
<display
value="Grundpauschale humangenetische in-vitro-Diagnostik bei Probeneinsendung"/>
</coding>
</code>
<subject>🔗
<reference value="Patient/mii-exa-molgen-patient-2"/>
</subject>
<quantity>
<value value="1"/>
</quantity>
</ChargeItem>
</resource>
<request>
<method value="PUT"/>
<url value="ChargeItem/mii-exa-molgen-chargeitem-ebm-24"/>
</request>
</entry>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-specimen-2"/>
<resource>
<Specimen>
<id value="mii-exa-molgen-specimen-2"/>
<meta>
<profile
value="https://www.medizininformatik-initiative.de/fhir/ext/modul-biobank/StructureDefinition/SpecimenCore"/>
</meta>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<identifier>
<system value="https://www.charite.de/fhir/sid/bioproben"/>
<value value="specimen_02"/>
</identifier>
<status value="available"/>
<type>
<coding>
<system value="http://snomed.info/sct"/>
<code value="445295009"/>
<display value="Blood specimen with edetic acid (specimen)"/>
</coding>
</type>
<subject>🔗
<reference value="Patient/mii-exa-molgen-patient-2"/>
</subject>
<receivedTime value="2021-11-24"/>
<collection>
<collectedDateTime value="2021-11-23"/>
</collection>
</Specimen>
</resource>
<request>
<method value="PUT"/>
<url value="Specimen/mii-exa-molgen-specimen-2"/>
</request>
</entry>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-device-sequencer-2"/>
<resource>
<Device>
<id value="mii-exa-molgen-device-sequencer-2"/>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<status value="active"/>
<manufacturer value="Illumina"/>
<deviceName>
<name value="NovaSeq 6000-Sequencer"/>
<type value="manufacturer-name"/>
</deviceName>
</Device>
</resource>
<request>
<method value="PUT"/>
<url value="Device/mii-exa-molgen-device-sequencer-2"/>
</request>
</entry>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-diagnostische-implikation-2"/>
<resource>
<Observation>
<id value="mii-exa-molgen-diagnostische-implikation-2"/>
<meta>
<profile
value="https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/diagnostische-implikation|2027.0.0-ballot.1"/>
<profile
value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication|3.0.0"/>
</meta>
<language value="de"/>
<text>
<status value="extensions"/>
</text>
<extension
url="http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact">
<valueRelatedArtifact>
<type value="citation"/>
<citation value="Richards et al., Genet Med. 2015; 17:405-24"/>
<url value="https://doi.org/10.1038/gim.2015.30"/>
</valueRelatedArtifact>
</extension>
<status value="final"/>
<category>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/observation-category"/>
<code value="laboratory"/>
<display value="Laboratory"/>
</coding>
</category>
<category>
<coding>
<system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
<code value="GE"/>
</coding>
</category>
<code>
<coding>
<system
value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
<code value="diagnostic-implication"/>
<display value="Diagnostic Implication"/>
</coding>
</code>
<subject>🔗
<reference value="Patient/mii-exa-molgen-patient-2"/>
</subject>
<effectiveDateTime value="2022-03-16"/>
<performer>🔗
<reference value="Practitioner/mii-exa-molgen-practitioner-lab"/>
</performer>
<derivedFrom>🔗
<reference value="Observation/mii-exa-molgen-variante-2"/>
</derivedFrom>
<component>
<code>
<coding>
<system
value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
<code value="conclusion-string"/>
</coding>
</code>
<valueString
value="Nachweis einer pathogenen Variante im NIPBL-Gen in heterozygoter Form."/>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="53037-8"/>
<display value="Genetic variation clinical significance [Imp]"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://loinc.org"/>
<code value="LA6668-3"/>
<display value="Pathogenic"/>
</coding>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system
value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
<code value="condition-inheritance"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://human-phenotype-ontology.org"/>
<code value="HP:0000006"/>
<display value="Autosomal dominant inheritance"/>
</coding>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="81259-4"/>
<display value="Associated phenotype"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://snomed.info/sct"/>
<code value="40354009"/>
<display value="De Lange syndrome (disorder)"/>
</coding>
</valueCodeableConcept>
</component>
</Observation>
</resource>
<request>
<method value="PUT"/>
<url value="Observation/mii-exa-molgen-diagnostische-implikation-2"/>
</request>
</entry>
<entry>
<fullUrl
value="https://www.medizininformatik-initiative.de/fhir/mii-exa-molgen-variante-2"/>
<resource>
<Observation>
<id value="mii-exa-molgen-variante-2"/>
<meta>
<profile
value="https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/variante|2027.0.0-ballot.1"/>
<profile
value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant|3.0.0"/>
</meta>
<language value="de"/>
<text>
<status value="generated"/>
</text>
<basedOn>🔗
<reference value="ServiceRequest/mii-exa-molgen-anforderung-2"/>
</basedOn>
<status value="final"/>
<category>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/observation-category"/>
<code value="laboratory"/>
<display value="Laboratory"/>
</coding>
</category>
<category>
<coding>
<system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
<code value="GE"/>
</coding>
</category>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="69548-6"/>
<display value="Genetic variant assessment"/>
</coding>
</code>
<subject>🔗
<reference value="Patient/mii-exa-molgen-patient-2"/>
</subject>
<effectiveDateTime value="2022-03-16"/>
<valueCodeableConcept>
<coding>
<system value="http://loinc.org"/>
<code value="LA9633-4"/>
<display value="Present"/>
</coding>
</valueCodeableConcept>
<method>
<coding>
<system value="http://loinc.org"/>
<code value="LA26398-0"/>
<display value="Sequencing"/>
</coding>
<coding>
<system value="http://loinc.org"/>
<code value="86206-0"/>
<display
value="Whole genome sequence analysis in Blood or Tissue by Molecular genetics method"/>
</coding>
</method>
<specimen>🔗
<reference value="Specimen/mii-exa-molgen-specimen-2"/>
</specimen>
<device>🔗
<reference value="Device/mii-exa-molgen-device-sequencer-2"/>
</device>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="48018-6"/>
<display value="Gene studied [ID]"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://www.genenames.org/geneId"/>
<code value="HGNC:28862"/>
<display value="NIPBL"/>
</coding>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="51958-7"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://www.ncbi.nlm.nih.gov/refseq"/>
<code value="NM_133433.4"/>
</coding>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="47999-8"/>
<display value="DNA region name [Identifier]"/>
</coding>
</code>
<valueString value="Exon #10"/>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="48004-6"/>
<display value="DNA change (c.HGVS)"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://varnomen.hgvs.org"/>
<code value="NM_133433.4:c.2207del"/>
</coding>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="48005-3"/>
<display value="Amino acid change (pHGVS)"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://varnomen.hgvs.org"/>
<code value="p.(Pro736Glnfs*58)"/>
</coding>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="53034-5"/>
<display value="Allelic state"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://loinc.org"/>
<code value="LA6706-1"/>
<display value="Heterozygous"/>
</coding>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="48019-4"/>
<display value="DNA change type"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://sequenceontology.org"/>
<code value="SO:0000159"/>
<display value="Deletion"/>
</coding>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="48001-2"/>
<display value="Cytogenetic (chromosome) location"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="urn:oid:2.16.840.1.113883.6.335"/>
<code value="5p13.2"/>
</coding>
</valueCodeableConcept>
</component>
<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="81252-9"/>
<display value="Discrete genetic variant"/>
</coding>
</code>
<valueCodeableConcept>
<coding>
<system value="http://www.ncbi.nlm.nih.gov/clinvar"/>
<code value="1076298"/>
</coding>
<coding>
<system value="http://www.ncbi.nlm.nih.gov/clinvar"/>
<code value="VCV001076298.1"/>
</coding>
</valueCodeableConcept>
</component>
</Observation>
</resource>
<request>
<method value="PUT"/>
<url value="Observation/mii-exa-molgen-variante-2"/>
</request>
</entry>
</Bundle>