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 in its permanent home (it will always be available at this URL). 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-praedispositionsgene-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-praedispositionsgene-hgnc</b></p><a name="de-mii-vs-onko-praedispositionsgene-hgnc"> </a><a name="de-hcmii-vs-onko-praedispositionsgene-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.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.5826837">HGNC:26837</a></td><td>AMER1</td><td>APC membrane recruitment protein 1</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.58583">HGNC:583</a></td><td>APC</td><td>APC regulator of Wnt signaling pathway</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5818318">HGNC:18318</a></td><td>ASXL1</td><td>ASXL transcriptional regulator 1</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.58795">HGNC:795</a></td><td>ATM</td><td>ATM serine/threonine kinase</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.581058">HGNC:1058</a></td><td>BLM</td><td>BLM RecQ like helicase</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.581076">HGNC:1076</a></td><td>BMPR1A</td><td>bone morphogenetic protein receptor type 1A</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.5820473">HGNC:20473</a></td><td>BRIP1</td><td>BRCA1 interacting DNA helicase 1</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.581149">HGNC:1149</a></td><td>BUB1B</td><td>BUB1 mitotic checkpoint serine/threonine kinase B</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.581541">HGNC:1541</a></td><td>CBL</td><td>Cbl proto-oncogene</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.581833">HGNC:1833</a></td><td>CEBPA</td><td>CCAAT enhancer binding protein alpha</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5830794">HGNC:30794</a></td><td>CEP57</td><td>centrosomal protein 57</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5816850">HGNC:16850</a></td><td>CTR9</td><td>CTR9 component of Paf1/RNA polymerase II complex</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.582718">HGNC:2718</a></td><td>DDB2</td><td>damage specific DNA binding protein 2</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5817098">HGNC:17098</a></td><td>DICER1</td><td>dicer 1, ribonuclease III</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5828648">HGNC:28648</a></td><td>DIS3L2</td><td>DIS3 like 3'-5' exoribonuclease 2</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.582890">HGNC:2890</a></td><td>DKC1</td><td>dyskerin pseudouridine synthase 1</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.583309">HGNC:3309</a></td><td>ELANE</td><td>elastase, neutrophil expressed</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.585959">HGNC:5959</a></td><td>ELP1</td><td>elongator acetyltransferase complex subunit 1</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.583374">HGNC:3374</a></td><td>EPAS1</td><td>endothelial PAS domain protein 1</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5811529">HGNC:11529</a></td><td>EPCAM</td><td>epithelial cell adhesion molecule</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.583433">HGNC:3433</a></td><td>ERCC1</td><td>ERCC excision repair 1, endonuclease non-catalytic subunit</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.583434">HGNC:3434</a></td><td>ERCC2</td><td>ERCC excision repair 2, TFIIH core complex helicase subunit</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.583435">HGNC:3435</a></td><td>ERCC3</td><td>ERCC excision repair 3, TFIIH core complex helicase subunit</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.583436">HGNC:3436</a></td><td>ERCC4</td><td>ERCC excision repair 4, endonuclease catalytic subunit</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.583437">HGNC:3437</a></td><td>ERCC5</td><td>ERCC excision repair 5, endonuclease</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.583495">HGNC:3495</a></td><td>ETV6</td><td>ETS variant transcription factor 6</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.583527">HGNC:3527</a></td><td>EZH2</td><td>enhancer of zeste 2 polycomb repressive complex 2 subunit</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.583582">HGNC:3582</a></td><td>FANCA</td><td>FA complementation group A</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.583583">HGNC:3583</a></td><td>FANCB</td><td>FA complementation group B</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.583584">HGNC:3584</a></td><td>FANCC</td><td>FA complementation group C</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.583585">HGNC:3585</a></td><td>FANCD2</td><td>FA complementation group D2</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.583586">HGNC:3586</a></td><td>FANCE</td><td>FA complementation group E</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.583587">HGNC:3587</a></td><td>FANCF</td><td>FA complementation group F</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.583588">HGNC:3588</a></td><td>FANCG</td><td>FA complementation group G</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5825568">HGNC:25568</a></td><td>FANCI</td><td>FA complementation group I</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5820748">HGNC:20748</a></td><td>FANCL</td><td>FA complementation group L</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5823168">HGNC:23168</a></td><td>FANCM</td><td>FA complementation group M</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.584451">HGNC:4451</a></td><td>GPC3</td><td>glypican 3</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5823694">HGNC:23694</a></td><td>GPR161</td><td>G protein-coupled receptor 161</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.585173">HGNC:5173</a></td><td>HRAS</td><td>HRas proto-oncogene, GTPase</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.5813176">HGNC:13176</a></td><td>IKZF1</td><td>IKAROS family zinc finger 1</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.586764">HGNC:6764</a></td><td>MAD2L2</td><td>mitotic arrest deficient 2 like 2</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.586913">HGNC:6913</a></td><td>MAX</td><td>MYC associated factor X</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.587010">HGNC:7010</a></td><td>MEN1</td><td>menin 1</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.587127">HGNC:7127</a></td><td>MLH1</td><td>mutL homolog 1</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.587325">HGNC:7325</a></td><td>MSH2</td><td>mutS homolog 2</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.587329">HGNC:7329</a></td><td>MSH6</td><td>mutS homolog 6</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.587652">HGNC:7652</a></td><td>NBN</td><td>nibrin</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.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.5814234">HGNC:14234</a></td><td>NSD1</td><td>nuclear receptor binding SET domain protein 1</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5826144">HGNC:26144</a></td><td>PALB2</td><td>partner and localizer of BRCA2</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.588619">HGNC:8619</a></td><td>PAX5</td><td>paired box 5</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.589143">HGNC:9143</a></td><td>PHOX2B</td><td>paired like homeobox 2B</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.589122">HGNC:9122</a></td><td>PMS2</td><td>PMS1 homolog 2, mismatch repair system component</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.589181">HGNC:9181</a></td><td>POLH</td><td>DNA polymerase eta</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.589585">HGNC:9585</a></td><td>PTCH1</td><td>patched 1</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.589588">HGNC:9588</a></td><td>PTEN</td><td>phosphatase and tensin homolog</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.589644">HGNC:9644</a></td><td>PTPN11</td><td>protein tyrosine phosphatase non-receptor type 11</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.589817">HGNC:9817</a></td><td>RAD51</td><td>RAD51 recombinase</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.589820">HGNC:9820</a></td><td>RAD51C</td><td>RAD51 paralog C</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.589884">HGNC:9884</a></td><td>RB1</td><td>RB transcriptional corepressor 1</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.589949">HGNC:9949</a></td><td>RECQL4</td><td>RecQ like helicase 4</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.589966">HGNC:9966</a></td><td>REST</td><td>RE1 silencing transcription factor</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.5825539">HGNC:25539</a></td><td>RFWD3</td><td>ring finger and WD repeat domain 3</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5810402">HGNC:10402</a></td><td>RPS19</td><td>ribosomal protein S19</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5815888">HGNC:15888</a></td><td>RTEL1</td><td>regulator of telomere elongation helicase 1</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5810471">HGNC:10471</a></td><td>RUNX1</td><td>RUNX family transcription factor 1</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.581348">HGNC:1348</a></td><td>SAMD9</td><td>sterile alpha motif domain containing 9</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.581349">HGNC:1349</a></td><td>SAMD9L</td><td>sterile alpha motif domain containing 9 like</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.5826034">HGNC:26034</a></td><td>SDHAF2</td><td>succinate dehydrogenase complex assembly factor 2</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.5823845">HGNC:23845</a></td><td>SLX4</td><td>SLX4 structure-specific endonuclease subunit</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.586770">HGNC:6770</a></td><td>SMAD4</td><td>SMAD family member 4</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5811100">HGNC:11100</a></td><td>SMARCA4</td><td>SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5811103">HGNC:11103</a></td><td>SMARCB1</td><td>SWI/SNF related BAF chromatin remodeling complex subunit B1</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5811119">HGNC:11119</a></td><td>SMO</td><td>smoothened, frizzled class receptor</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5811187">HGNC:11187</a></td><td>SOS1</td><td>SOS Ras/Rac guanine nucleotide exchange factor 1</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5811389">HGNC:11389</a></td><td>STK11</td><td>serine/threonine kinase 11</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5816466">HGNC:16466</a></td><td>SUFU</td><td>SUFU negative regulator of hedgehog signaling</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5811633">HGNC:11633</a></td><td>TCF3</td><td>transcription factor 3</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5811727">HGNC:11727</a></td><td>TERC</td><td>telomerase RNA component</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5811730">HGNC:11730</a></td><td>TERT</td><td>telomerase reverse transcriptase</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5811824">HGNC:11824</a></td><td>TINF2</td><td>TERF1 interacting nuclear factor 2</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5826038">HGNC:26038</a></td><td>TMEM127</td><td>transmembrane protein 127</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><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5816384">HGNC:16384</a></td><td>TRIM28</td><td>tripartite motif containing 28</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.587523">HGNC:7523</a></td><td>TRIM37</td><td>tripartite motif containing 37</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5812307">HGNC:12307</a></td><td>TRIP13</td><td>thyroid hormone receptor interactor 13</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5812362">HGNC:12362</a></td><td>TSC1</td><td>TSC complex subunit 1</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5812363">HGNC:12363</a></td><td>TSC2</td><td>TSC complex subunit 2</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5825009">HGNC:25009</a></td><td>UBE2T</td><td>ubiquitin conjugating enzyme E2 T</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5812687">HGNC:12687</a></td><td>VHL</td><td>von Hippel-Lindau tumor suppressor</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5812796">HGNC:12796</a></td><td>WT1</td><td>WT1 transcription factor</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5812814">HGNC:12814</a></td><td>XPA</td><td>XPA, DNA damage recognition and repair factor</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5812816">HGNC:12816</a></td><td>XPC</td><td>XPC complex subunit, DNA damage recognition and repair factor</td></tr><tr><td><a href="http://127.0.0.1:8090/fhir/ValueSet/hgnc-gene-id#hgnc-gene-id-HGNC.5812829">HGNC:12829</a></td><td>XRCC2</td><td>X-ray repair cross complementing 2</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-praedispositionsgene-hgnc"/>
<version value="2027.0.0-ballot.1"/>
<name value="MII_VS_Onko_Praedispositionsgene_HGNC"/>
<title value="MII VS Onkologie Krebsprädispositionsgene HGNC"/>
<status value="active"/>
<experimental value="false"/>
<date value="2026-09-15T06:26:59+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="Krebsprädispositionsgene der §65c-Liste (Manual Plus, Krebsprädispositionssyndrom und -gen) als HGNC-Gen-IDs, inkl. Expansion der Sammel-Einträge (FANCA-FANCW, IDH1/2, XP-Komplementationsgruppen). Begleitartefakt ohne Profil-Binding (Andockung an die genetischen Profile folgt mit dem Konzept für genetische Marker). Zytogenetische Aberrationen der Quell-Liste (11p13/11p15, Trisomien, ETV-RUNX1-Fusion) sind keine Gene und hier nicht enthalten. Projektseitige Code-Auflösung ohne Gewähr; fachliche Prüfung vor Produktivnutzung erforderlich."/>
<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:427"/>
<display value="ALK"/>
</concept>
<concept>
<code value="HGNC:26837"/>
<display value="AMER1"/>
</concept>
<concept>
<code value="HGNC:583"/>
<display value="APC"/>
</concept>
<concept>
<code value="HGNC:18318"/>
<display value="ASXL1"/>
</concept>
<concept>
<code value="HGNC:795"/>
<display value="ATM"/>
</concept>
<concept>
<code value="HGNC:1058"/>
<display value="BLM"/>
</concept>
<concept>
<code value="HGNC:1076"/>
<display value="BMPR1A"/>
</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:20473"/>
<display value="BRIP1"/>
</concept>
<concept>
<code value="HGNC:1149"/>
<display value="BUB1B"/>
</concept>
<concept>
<code value="HGNC:1541"/>
<display value="CBL"/>
</concept>
<concept>
<code value="HGNC:1833"/>
<display value="CEBPA"/>
</concept>
<concept>
<code value="HGNC:30794"/>
<display value="CEP57"/>
</concept>
<concept>
<code value="HGNC:16850"/>
<display value="CTR9"/>
</concept>
<concept>
<code value="HGNC:2718"/>
<display value="DDB2"/>
</concept>
<concept>
<code value="HGNC:17098"/>
<display value="DICER1"/>
</concept>
<concept>
<code value="HGNC:28648"/>
<display value="DIS3L2"/>
</concept>
<concept>
<code value="HGNC:2890"/>
<display value="DKC1"/>
</concept>
<concept>
<code value="HGNC:3309"/>
<display value="ELANE"/>
</concept>
<concept>
<code value="HGNC:5959"/>
<display value="ELP1"/>
</concept>
<concept>
<code value="HGNC:3374"/>
<display value="EPAS1"/>
</concept>
<concept>
<code value="HGNC:11529"/>
<display value="EPCAM"/>
</concept>
<concept>
<code value="HGNC:3433"/>
<display value="ERCC1"/>
</concept>
<concept>
<code value="HGNC:3434"/>
<display value="ERCC2"/>
</concept>
<concept>
<code value="HGNC:3435"/>
<display value="ERCC3"/>
</concept>
<concept>
<code value="HGNC:3436"/>
<display value="ERCC4"/>
</concept>
<concept>
<code value="HGNC:3437"/>
<display value="ERCC5"/>
</concept>
<concept>
<code value="HGNC:3495"/>
<display value="ETV6"/>
</concept>
<concept>
<code value="HGNC:3527"/>
<display value="EZH2"/>
</concept>
<concept>
<code value="HGNC:3582"/>
<display value="FANCA"/>
</concept>
<concept>
<code value="HGNC:3583"/>
<display value="FANCB"/>
</concept>
<concept>
<code value="HGNC:3584"/>
<display value="FANCC"/>
</concept>
<concept>
<code value="HGNC:3585"/>
<display value="FANCD2"/>
</concept>
<concept>
<code value="HGNC:3586"/>
<display value="FANCE"/>
</concept>
<concept>
<code value="HGNC:3587"/>
<display value="FANCF"/>
</concept>
<concept>
<code value="HGNC:3588"/>
<display value="FANCG"/>
</concept>
<concept>
<code value="HGNC:25568"/>
<display value="FANCI"/>
</concept>
<concept>
<code value="HGNC:20748"/>
<display value="FANCL"/>
</concept>
<concept>
<code value="HGNC:23168"/>
<display value="FANCM"/>
</concept>
<concept>
<code value="HGNC:4451"/>
<display value="GPC3"/>
</concept>
<concept>
<code value="HGNC:23694"/>
<display value="GPR161"/>
</concept>
<concept>
<code value="HGNC:5173"/>
<display value="HRAS"/>
</concept>
<concept>
<code value="HGNC:5382"/>
<display value="IDH1"/>
</concept>
<concept>
<code value="HGNC:5383"/>
<display value="IDH2"/>
</concept>
<concept>
<code value="HGNC:13176"/>
<display value="IKZF1"/>
</concept>
<concept>
<code value="HGNC:6407"/>
<display value="KRAS"/>
</concept>
<concept>
<code value="HGNC:6764"/>
<display value="MAD2L2"/>
</concept>
<concept>
<code value="HGNC:6913"/>
<display value="MAX"/>
</concept>
<concept>
<code value="HGNC:7010"/>
<display value="MEN1"/>
</concept>
<concept>
<code value="HGNC:7127"/>
<display value="MLH1"/>
</concept>
<concept>
<code value="HGNC:7325"/>
<display value="MSH2"/>
</concept>
<concept>
<code value="HGNC:7329"/>
<display value="MSH6"/>
</concept>
<concept>
<code value="HGNC:7652"/>
<display value="NBN"/>
</concept>
<concept>
<code value="HGNC:7765"/>
<display value="NF1"/>
</concept>
<concept>
<code value="HGNC:7989"/>
<display value="NRAS"/>
</concept>
<concept>
<code value="HGNC:14234"/>
<display value="NSD1"/>
</concept>
<concept>
<code value="HGNC:26144"/>
<display value="PALB2"/>
</concept>
<concept>
<code value="HGNC:8619"/>
<display value="PAX5"/>
</concept>
<concept>
<code value="HGNC:9143"/>
<display value="PHOX2B"/>
</concept>
<concept>
<code value="HGNC:8975"/>
<display value="PIK3CA"/>
</concept>
<concept>
<code value="HGNC:9122"/>
<display value="PMS2"/>
</concept>
<concept>
<code value="HGNC:9181"/>
<display value="POLH"/>
</concept>
<concept>
<code value="HGNC:9585"/>
<display value="PTCH1"/>
</concept>
<concept>
<code value="HGNC:9588"/>
<display value="PTEN"/>
</concept>
<concept>
<code value="HGNC:9644"/>
<display value="PTPN11"/>
</concept>
<concept>
<code value="HGNC:9817"/>
<display value="RAD51"/>
</concept>
<concept>
<code value="HGNC:9820"/>
<display value="RAD51C"/>
</concept>
<concept>
<code value="HGNC:9884"/>
<display value="RB1"/>
</concept>
<concept>
<code value="HGNC:9949"/>
<display value="RECQL4"/>
</concept>
<concept>
<code value="HGNC:9966"/>
<display value="REST"/>
</concept>
<concept>
<code value="HGNC:9967"/>
<display value="RET"/>
</concept>
<concept>
<code value="HGNC:25539"/>
<display value="RFWD3"/>
</concept>
<concept>
<code value="HGNC:10402"/>
<display value="RPS19"/>
</concept>
<concept>
<code value="HGNC:15888"/>
<display value="RTEL1"/>
</concept>
<concept>
<code value="HGNC:10471"/>
<display value="RUNX1"/>
</concept>
<concept>
<code value="HGNC:1348"/>
<display value="SAMD9"/>
</concept>
<concept>
<code value="HGNC:1349"/>
<display value="SAMD9L"/>
</concept>
<concept>
<code value="HGNC:10680"/>
<display value="SDHA"/>
</concept>
<concept>
<code value="HGNC:26034"/>
<display value="SDHAF2"/>
</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:23845"/>
<display value="SLX4"/>
</concept>
<concept>
<code value="HGNC:6770"/>
<display value="SMAD4"/>
</concept>
<concept>
<code value="HGNC:11100"/>
<display value="SMARCA4"/>
</concept>
<concept>
<code value="HGNC:11103"/>
<display value="SMARCB1"/>
</concept>
<concept>
<code value="HGNC:11119"/>
<display value="SMO"/>
</concept>
<concept>
<code value="HGNC:11187"/>
<display value="SOS1"/>
</concept>
<concept>
<code value="HGNC:11389"/>
<display value="STK11"/>
</concept>
<concept>
<code value="HGNC:16466"/>
<display value="SUFU"/>
</concept>
<concept>
<code value="HGNC:11633"/>
<display value="TCF3"/>
</concept>
<concept>
<code value="HGNC:11727"/>
<display value="TERC"/>
</concept>
<concept>
<code value="HGNC:11730"/>
<display value="TERT"/>
</concept>
<concept>
<code value="HGNC:11824"/>
<display value="TINF2"/>
</concept>
<concept>
<code value="HGNC:26038"/>
<display value="TMEM127"/>
</concept>
<concept>
<code value="HGNC:11998"/>
<display value="TP53"/>
</concept>
<concept>
<code value="HGNC:16384"/>
<display value="TRIM28"/>
</concept>
<concept>
<code value="HGNC:7523"/>
<display value="TRIM37"/>
</concept>
<concept>
<code value="HGNC:12307"/>
<display value="TRIP13"/>
</concept>
<concept>
<code value="HGNC:12362"/>
<display value="TSC1"/>
</concept>
<concept>
<code value="HGNC:12363"/>
<display value="TSC2"/>
</concept>
<concept>
<code value="HGNC:25009"/>
<display value="UBE2T"/>
</concept>
<concept>
<code value="HGNC:12687"/>
<display value="VHL"/>
</concept>
<concept>
<code value="HGNC:12796"/>
<display value="WT1"/>
</concept>
<concept>
<code value="HGNC:12814"/>
<display value="XPA"/>
</concept>
<concept>
<code value="HGNC:12816"/>
<display value="XPC"/>
</concept>
<concept>
<code value="HGNC:12829"/>
<display value="XRCC2"/>
</concept>
</include>
</compose>
</ValueSet>