{ "resourceType" : "ValueSet", "id" : "mii-vs-onko-marker-gene-hgnc", "meta" : { "extension" : [{ "url" : "http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-license", "valueCode" : "CC-BY-4.0" }, { "extension" : [{ "url" : "packageId", "valueId" : "de.medizininformatikinitiative.kerndatensatz.onkologie" }, { "url" : "version", "valueString" : "2027.0.0-ballot.1" }, { "url" : "uri", "valueUri" : "https://www.medizininformatik-initiative.de/fhir/ext/modul-onko" }], "url" : "http://hl7.org/fhir/StructureDefinition/package-source" }], "profile" : ["http://hl7.org/fhir/StructureDefinition/shareablevalueset", "http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-shareablevalueset", "http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-publishablevalueset", "http://hl7.org/fhir/uv/crmi/StructureDefinition/crmi-computablevalueset"] }, "language" : "de", "text" : { "status" : "extensions", "div" : "

German

Generated Narrative: ValueSet mii-vs-onko-marker-gene-hgnc

Profiles: Shareable ValueSet, CRMI Shareable ValueSet, CRMI Publishable ValueSet, CRMI Computable ValueSet

" }, "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability", "valueCode" : "shareable" }, { "url" : "http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability", "valueCode" : "publishable" }, { "url" : "http://hl7.org/fhir/StructureDefinition/cqf-knowledgeCapability", "valueCode" : "computable" }, { "url" : "http://hl7.org/fhir/StructureDefinition/artifact-versionPolicy", "valueCodeableConcept" : { "coding" : [{ "system" : "http://terminology.hl7.org/CodeSystem/artifact-version-policy-codes", "code" : "package", "display" : "Package" }] } }, { "url" : "http://hl7.org/fhir/StructureDefinition/resource-approvalDate", "valueDate" : "2026-09-15" }, { "url" : "http://hl7.org/fhir/StructureDefinition/artifact-topic", "valueCodeableConcept" : { "coding" : [{ "system" : "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl", "code" : "C3262" }] } }, { "url" : "http://hl7.org/fhir/StructureDefinition/artifact-author", "valueContactDetail" : { "telecom" : [{ "system" : "email", "value" : "thomas.debertshaeuser@charite.de" }] } }, { "url" : "http://hl7.org/fhir/StructureDefinition/artifact-editor", "valueContactDetail" : { "name" : "Taskforce Core Data Set" } }, { "url" : "http://hl7.org/fhir/StructureDefinition/artifact-reviewer", "valueContactDetail" : { "name" : "Interoperability Working Group", "telecom" : [{ "system" : "url", "value" : "https://www.medizininformatik-initiative.de/en/collaboration/interoperability-working-group" }] } }, { "url" : "http://hl7.org/fhir/StructureDefinition/artifact-reviewer", "valueContactDetail" : { "name" : "National Steering Committee", "telecom" : [{ "system" : "url", "value" : "https://www.medizininformatik-initiative.de/en/collaboration/national-steering-committee" }] } }, { "url" : "http://hl7.org/fhir/StructureDefinition/artifact-endorser", "valueContactDetail" : { "name" : "Interoperability Working Group", "telecom" : [{ "system" : "url", "value" : "https://www.medizininformatik-initiative.de/en/collaboration/interoperability-working-group" }] } }, { "url" : "http://hl7.org/fhir/StructureDefinition/artifact-endorser", "valueContactDetail" : { "name" : "National Steering Committee", "telecom" : [{ "system" : "url", "value" : "https://www.medizininformatik-initiative.de/en/collaboration/national-steering-committee" }] } }, { "url" : "http://hl7.org/fhir/StructureDefinition/artifact-versionAlgorithm", "valueCoding" : { "system" : "http://hl7.org/fhir/version-algorithm", "code" : "semver", "display" : "SemVer" } }, { "url" : "http://hl7.org/fhir/StructureDefinition/resource-effectivePeriod", "valuePeriod" : { "start" : "2027" } }], "url" : "https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-marker-gene-hgnc", "version" : "2027.0.0-ballot.1", "name" : "MII_VS_Onko_Marker_Gene_HGNC", "title" : "MII VS Onkologie Marker-Gene HGNC", "status" : "active", "experimental" : false, "date" : "2026-09-15T06:26:59+00:00", "publisher" : "Medizininformatik Initiative", "contact" : [{ "name" : "Medizininformatik Initiative", "telecom" : [{ "system" : "url", "value" : "https://www.medizininformatik-initiative.de/" }] }], "description" : "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" : "urn:iso:std:iso:3166", "code" : "DE", "display" : "Germany" }] }], "compose" : { "include" : [{ "system" : "http://www.genenames.org/geneId", "concept" : [{ "code" : "HGNC:76", "display" : "ABL1" }, { "code" : "HGNC:427", "display" : "ALK" }, { "code" : "HGNC:1097", "display" : "BRAF" }, { "code" : "HGNC:1100", "display" : "BRCA1" }, { "code" : "HGNC:1101", "display" : "BRCA2" }, { "code" : "HGNC:1133", "display" : "BTK" }, { "code" : "HGNC:2561", "display" : "CXCR4" }, { "code" : "HGNC:3236", "display" : "EGFR" }, { "code" : "HGNC:3430", "display" : "ERBB2" }, { "code" : "HGNC:3689", "display" : "FGFR2" }, { "code" : "HGNC:3765", "display" : "FLT3" }, { "code" : "HGNC:5382", "display" : "IDH1" }, { "code" : "HGNC:5383", "display" : "IDH2" }, { "code" : "HGNC:6342", "display" : "KIT" }, { "code" : "HGNC:13726", "display" : "KMT2C" }, { "code" : "HGNC:6407", "display" : "KRAS" }, { "code" : "HGNC:6470", "display" : "L1CAM" }, { "code" : "HGNC:6840", "display" : "MAP2K1" }, { "code" : "HGNC:7029", "display" : "MET" }, { "code" : "HGNC:7059", "display" : "MGMT" }, { "code" : "HGNC:7562", "display" : "MYD88" }, { "code" : "HGNC:7765", "display" : "NF1" }, { "code" : "HGNC:7910", "display" : "NPM1" }, { "code" : "HGNC:7989", "display" : "NRAS" }, { "code" : "HGNC:7997", "display" : "NRG1" }, { "code" : "HGNC:8031", "display" : "NTRK1" }, { "code" : "HGNC:8032", "display" : "NTRK2" }, { "code" : "HGNC:8033", "display" : "NTRK3" }, { "code" : "HGNC:8803", "display" : "PDGFRA" }, { "code" : "HGNC:8975", "display" : "PIK3CA" }, { "code" : "HGNC:9177", "display" : "POLE" }, { "code" : "HGNC:9864", "display" : "RARA" }, { "code" : "HGNC:9967", "display" : "RET" }, { "code" : "HGNC:10261", "display" : "ROS1" }, { "code" : "HGNC:10680", "display" : "SDHA" }, { "code" : "HGNC:10681", "display" : "SDHB" }, { "code" : "HGNC:10682", "display" : "SDHC" }, { "code" : "HGNC:10683", "display" : "SDHD" }, { "code" : "HGNC:25941", "display" : "TET2" }, { "code" : "HGNC:11998", "display" : "TP53" }] }] } }