MII IG Kerndatensatz-Modul Onkologie
2027.0.0-ballot.1 -
Germany
MII IG Kerndatensatz-Modul Onkologie
2027.0.0-ballot.1 -
Germany
This page is part of the MII IG Kerndatensatz-Modul Onkologie (v2027.0.0-ballot.1: Release) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions
| Active Stand: 2026-09-15 |
<ValueSet xmlns="http://hl7.org/fhir">
<id value="mii-vs-onko-marker-gene-hgnc"/>
<meta>
<extension
url="http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-license">
<valueCode value="CC-BY-4.0"/>
</extension>
<extension url="http://hl7.org/fhir/StructureDefinition/package-source">
<extension url="packageId">
<valueId
value="de.medizininformatikinitiative.kerndatensatz.onkologie"/>
</extension>
<extension url="version">
<valueString value="2027.0.0-ballot.1"/>
</extension>
<extension url="uri">
<valueUri
value="https://www.medizininformatik-initiative.de/fhir/ext/modul-onko"/>
</extension>
</extension>
<profile
value="http://hl7.org/fhir/StructureDefinition/shareablevalueset"/>
<profile
value="http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-shareablevalueset"/>
<profile
value="http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-publishablevalueset"/>
<profile
value="http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-computablevalueset"/>
</meta>
<language value="de"/>
<text>
<status value="extensions"/>
<div xml:lang="de" lang="de"><hr/><p><b>German</b></p><hr/><p class="res-header-id"><b>Generated Narrative: ValueSet mii-vs-onko-marker-gene-hgnc</b></p><a name="de-mii-vs-onko-marker-gene-hgnc"> </a><a name="de-hcmii-vs-onko-marker-gene-hgnc"> </a><div style="display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%"><p style="margin-bottom: 0px"/><p style="margin-bottom: 0px">Profiles: <a href="http://hl7.org/fhir/uv/crmi/STU2/StructureDefinition-shareablevalueset.html">Shareable ValueSet</a>, <a href="http://hl7.org/fhir/uv/crmi/STU2/StructureDefinition-crmi-shareablevalueset.html">CRMI Shareable ValueSet</a>, <a href="http://hl7.org/fhir/uv/crmi/STU2/StructureDefinition-crmi-publishablevalueset.html">CRMI Publishable ValueSet</a>, <a href="http://hl7.org/fhir/uv/crmi/STU2/StructureDefinition-crmi-computablevalueset.html">CRMI Computable ValueSet</a></p></div><ul><li>Include these codes as defined in <a href="http://127.0.0.1:8090/fhir"><code>http://www.genenames.org/geneId</code></a><span style="opacity: 0.5" title="Version is not explicitly stated. When building this specification, the most recent version 20250704 has been used"> version ⏿20250704</span><table class="none"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5876">HGNC:76</a></td><td>ABL1</td><td>ABL proto-oncogene 1, non-receptor tyrosine kinase</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.58427">HGNC:427</a></td><td>ALK</td><td>ALK receptor tyrosine kinase</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.581097">HGNC:1097</a></td><td>BRAF</td><td>B-Raf proto-oncogene, serine/threonine kinase</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.581100">HGNC:1100</a></td><td>BRCA1</td><td>BRCA1 DNA repair associated</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.581101">HGNC:1101</a></td><td>BRCA2</td><td>BRCA2 DNA repair associated</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.581133">HGNC:1133</a></td><td>BTK</td><td>Bruton tyrosine kinase</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.582561">HGNC:2561</a></td><td>CXCR4</td><td>C-X-C motif chemokine receptor 4</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.583236">HGNC:3236</a></td><td>EGFR</td><td>epidermal growth factor receptor</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.583430">HGNC:3430</a></td><td>ERBB2</td><td>erb-b2 receptor tyrosine kinase 2</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.583689">HGNC:3689</a></td><td>FGFR2</td><td>fibroblast growth factor receptor 2</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.583765">HGNC:3765</a></td><td>FLT3</td><td>fms related receptor tyrosine kinase 3</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.585382">HGNC:5382</a></td><td>IDH1</td><td>isocitrate dehydrogenase (NADP(+)) 1</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.585383">HGNC:5383</a></td><td>IDH2</td><td>isocitrate dehydrogenase (NADP(+)) 2</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.586342">HGNC:6342</a></td><td>KIT</td><td>KIT proto-oncogene, receptor tyrosine kinase</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5813726">HGNC:13726</a></td><td>KMT2C</td><td>lysine methyltransferase 2C</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.586407">HGNC:6407</a></td><td>KRAS</td><td>KRAS proto-oncogene, GTPase</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.586470">HGNC:6470</a></td><td>L1CAM</td><td>L1 cell adhesion molecule</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.586840">HGNC:6840</a></td><td>MAP2K1</td><td>mitogen-activated protein kinase kinase 1</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.587029">HGNC:7029</a></td><td>MET</td><td>MET proto-oncogene, receptor tyrosine kinase</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.587059">HGNC:7059</a></td><td>MGMT</td><td>O-6-methylguanine-DNA methyltransferase</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.587562">HGNC:7562</a></td><td>MYD88</td><td>MYD88 innate immune signal transduction adaptor</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.587765">HGNC:7765</a></td><td>NF1</td><td>neurofibromin 1</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.587910">HGNC:7910</a></td><td>NPM1</td><td>nucleophosmin 1</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.587989">HGNC:7989</a></td><td>NRAS</td><td>NRAS proto-oncogene, GTPase</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.587997">HGNC:7997</a></td><td>NRG1</td><td>neuregulin 1</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.588031">HGNC:8031</a></td><td>NTRK1</td><td>neurotrophic receptor tyrosine kinase 1</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.588032">HGNC:8032</a></td><td>NTRK2</td><td>neurotrophic receptor tyrosine kinase 2</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.588033">HGNC:8033</a></td><td>NTRK3</td><td>neurotrophic receptor tyrosine kinase 3</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.588803">HGNC:8803</a></td><td>PDGFRA</td><td>platelet derived growth factor receptor alpha</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.588975">HGNC:8975</a></td><td>PIK3CA</td><td>phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.589177">HGNC:9177</a></td><td>POLE</td><td>DNA polymerase epsilon, catalytic subunit</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.589864">HGNC:9864</a></td><td>RARA</td><td>retinoic acid receptor alpha</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.589967">HGNC:9967</a></td><td>RET</td><td>ret proto-oncogene</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5810261">HGNC:10261</a></td><td>ROS1</td><td>ROS proto-oncogene 1, receptor tyrosine kinase</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5810680">HGNC:10680</a></td><td>SDHA</td><td>succinate dehydrogenase complex flavoprotein subunit A</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5810681">HGNC:10681</a></td><td>SDHB</td><td>succinate dehydrogenase complex iron sulfur subunit B</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5810682">HGNC:10682</a></td><td>SDHC</td><td>succinate dehydrogenase complex subunit C</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5810683">HGNC:10683</a></td><td>SDHD</td><td>succinate dehydrogenase complex subunit D</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5825941">HGNC:25941</a></td><td>TET2</td><td>tet methylcytosine dioxygenase 2</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5811998">HGNC:11998</a></td><td>TP53</td><td>tumor protein p53</td></tr></table></li></ul></div>
</text>
<extension
url="http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability">
<valueCode value="shareable"/>
</extension>
<extension
url="http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability">
<valueCode value="publishable"/>
</extension>
<extension
url="http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability">
<valueCode value="computable"/>
</extension>
<extension
url="http://hl7.org/fhir/StructureDefinition/artifact-versionPolicy">
<valueCodeableConcept>
<coding>
<system
value="http://terminology.hl7.org/CodeSystem/artifact-version-policy-codes"/>
<code value="package"/>
<display value="Package"/>
</coding>
</valueCodeableConcept>
</extension>
<extension
url="http://hl7.org/fhir/StructureDefinition/resource-approvalDate">
<valueDate value="2026-09-15"/>
</extension>
<extension url="http://hl7.org/fhir/StructureDefinition/artifact-topic">
<valueCodeableConcept>
<coding>
<system value="http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl"/>
<code value="C3262"/>
</coding>
</valueCodeableConcept>
</extension>
<extension url="http://hl7.org/fhir/StructureDefinition/artifact-author">
<valueContactDetail>
<telecom>
<system value="email"/>
<value value="thomas.debertshaeuser@charite.de"/>
</telecom>
</valueContactDetail>
</extension>
<extension url="http://hl7.org/fhir/StructureDefinition/artifact-editor">
<valueContactDetail>
<name value="Taskforce Core Data Set"/>
</valueContactDetail>
</extension>
<extension url="http://hl7.org/fhir/StructureDefinition/artifact-reviewer">
<valueContactDetail>
<name value="Interoperability Working Group"/>
<telecom>
<system value="url"/>
<value
value="https://www.medizininformatik-initiative.de/en/collaboration/interoperability-working-group"/>
</telecom>
</valueContactDetail>
</extension>
<extension url="http://hl7.org/fhir/StructureDefinition/artifact-reviewer">
<valueContactDetail>
<name value="National Steering Committee"/>
<telecom>
<system value="url"/>
<value
value="https://www.medizininformatik-initiative.de/en/collaboration/national-steering-committee"/>
</telecom>
</valueContactDetail>
</extension>
<extension url="http://hl7.org/fhir/StructureDefinition/artifact-endorser">
<valueContactDetail>
<name value="Interoperability Working Group"/>
<telecom>
<system value="url"/>
<value
value="https://www.medizininformatik-initiative.de/en/collaboration/interoperability-working-group"/>
</telecom>
</valueContactDetail>
</extension>
<extension url="http://hl7.org/fhir/StructureDefinition/artifact-endorser">
<valueContactDetail>
<name value="National Steering Committee"/>
<telecom>
<system value="url"/>
<value
value="https://www.medizininformatik-initiative.de/en/collaboration/national-steering-committee"/>
</telecom>
</valueContactDetail>
</extension>
<extension
url="http://hl7.org/fhir/StructureDefinition/artifact-versionAlgorithm">
<valueCoding>
<system value="http://hl7.org/fhir/version-algorithm"/>
<code value="semver"/>
<display value="SemVer"/>
</valueCoding>
</extension>
<extension
url="http://hl7.org/fhir/StructureDefinition/resource-effectivePeriod">
<valuePeriod>
<start value="2027"/>
</valuePeriod>
</extension>
<url
value="https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-marker-gene-hgnc"/>
<version value="2027.0.0-ballot.1"/>
<name value="MII_VS_Onko_Marker_Gene_HGNC"/>
<title value="MII VS Onkologie Marker-Gene HGNC"/>
<status value="active"/>
<experimental value="false"/>
<date value="2026-09-15T07:11:34+00:00"/>
<publisher value="Medizininformatik Initiative"/>
<contact>
<name value="Medizininformatik Initiative"/>
<telecom>
<system value="url"/>
<value value="https://www.medizininformatik-initiative.de/"/>
</telecom>
</contact>
<description
value="Gensymbole der onkologisch gebraeuchlichen Marker-Gene aus der Genetik-Markerliste der §65c-Plattform, als HGNC-Gen-IDs. Auswahlunterstuetzung fuer Observation.component:gene-studied im Profil MII_PR_Onko_Genetische_Variante (extensible gebunden — weitere Gene sind zulaessig). Nicht-Gene der Quellliste (IHC-Marker, zytogenetische Aberrationen) sind bewusst ausgeschlossen; siehe die Kommentare in der FSH-Quelle und die IG-Seite zu den Variantentypen."/>
<jurisdiction>
<coding>
<system value="urn:iso:std:iso:3166"/>
<code value="DE"/>
<display value="Germany"/>
</coding>
</jurisdiction>
<compose>
<include>
<system value="http://www.genenames.org/geneId"/>
<concept>
<code value="HGNC:76"/>
<display value="ABL1"/>
</concept>
<concept>
<code value="HGNC:427"/>
<display value="ALK"/>
</concept>
<concept>
<code value="HGNC:1097"/>
<display value="BRAF"/>
</concept>
<concept>
<code value="HGNC:1100"/>
<display value="BRCA1"/>
</concept>
<concept>
<code value="HGNC:1101"/>
<display value="BRCA2"/>
</concept>
<concept>
<code value="HGNC:1133"/>
<display value="BTK"/>
</concept>
<concept>
<code value="HGNC:2561"/>
<display value="CXCR4"/>
</concept>
<concept>
<code value="HGNC:3236"/>
<display value="EGFR"/>
</concept>
<concept>
<code value="HGNC:3430"/>
<display value="ERBB2"/>
</concept>
<concept>
<code value="HGNC:3689"/>
<display value="FGFR2"/>
</concept>
<concept>
<code value="HGNC:3765"/>
<display value="FLT3"/>
</concept>
<concept>
<code value="HGNC:5382"/>
<display value="IDH1"/>
</concept>
<concept>
<code value="HGNC:5383"/>
<display value="IDH2"/>
</concept>
<concept>
<code value="HGNC:6342"/>
<display value="KIT"/>
</concept>
<concept>
<code value="HGNC:13726"/>
<display value="KMT2C"/>
</concept>
<concept>
<code value="HGNC:6407"/>
<display value="KRAS"/>
</concept>
<concept>
<code value="HGNC:6470"/>
<display value="L1CAM"/>
</concept>
<concept>
<code value="HGNC:6840"/>
<display value="MAP2K1"/>
</concept>
<concept>
<code value="HGNC:7029"/>
<display value="MET"/>
</concept>
<concept>
<code value="HGNC:7059"/>
<display value="MGMT"/>
</concept>
<concept>
<code value="HGNC:7562"/>
<display value="MYD88"/>
</concept>
<concept>
<code value="HGNC:7765"/>
<display value="NF1"/>
</concept>
<concept>
<code value="HGNC:7910"/>
<display value="NPM1"/>
</concept>
<concept>
<code value="HGNC:7989"/>
<display value="NRAS"/>
</concept>
<concept>
<code value="HGNC:7997"/>
<display value="NRG1"/>
</concept>
<concept>
<code value="HGNC:8031"/>
<display value="NTRK1"/>
</concept>
<concept>
<code value="HGNC:8032"/>
<display value="NTRK2"/>
</concept>
<concept>
<code value="HGNC:8033"/>
<display value="NTRK3"/>
</concept>
<concept>
<code value="HGNC:8803"/>
<display value="PDGFRA"/>
</concept>
<concept>
<code value="HGNC:8975"/>
<display value="PIK3CA"/>
</concept>
<concept>
<code value="HGNC:9177"/>
<display value="POLE"/>
</concept>
<concept>
<code value="HGNC:9864"/>
<display value="RARA"/>
</concept>
<concept>
<code value="HGNC:9967"/>
<display value="RET"/>
</concept>
<concept>
<code value="HGNC:10261"/>
<display value="ROS1"/>
</concept>
<concept>
<code value="HGNC:10680"/>
<display value="SDHA"/>
</concept>
<concept>
<code value="HGNC:10681"/>
<display value="SDHB"/>
</concept>
<concept>
<code value="HGNC:10682"/>
<display value="SDHC"/>
</concept>
<concept>
<code value="HGNC:10683"/>
<display value="SDHD"/>
</concept>
<concept>
<code value="HGNC:25941"/>
<display value="TET2"/>
</concept>
<concept>
<code value="HGNC:11998"/>
<display value="TP53"/>
</concept>
</include>
</compose>
</ValueSet>