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Packagede.medizininformatikinitiative.kerndatensatz.onkologie
Resource TypeValueSet
IdValueSet-mii-vs-onko-marker-gene-hgnc.json
FHIR VersionR4
Sourcehttps://medizininformatik-initiative.github.io/kerndatensatzmodul-onkologie/2027.0.0-ballot.1/ValueSet-mii-vs-onko-marker-gene-hgnc.html
URLhttps://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-marker-gene-hgnc
Version2027.0.0-ballot.1
Statusactive
Date2026-09-15T06:26:59+00:00
NameMII_VS_Onko_Marker_Gene_HGNC
TitleMII VS Onkologie Marker-Gene HGNC
Realmde
DescriptionGensymbole 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.

Resources that use this resource

StructureDefinition
de.medizininformatikinitiative.kerndatensatz.onkologie#2027.0.0-ballot.1mii-pr-onko-genetische-varianteMII PR Onkologie Genetische Variante

Resources that this resource uses

No resources found


Narrative

Note: links and images are rebased to the (stated) source


English


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

  • Include these codes as defined in http://www.genenames.org/geneId version ⏿20250704
    CodeDisplayDefinition
    HGNC:76ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase
    HGNC:427ALKALK receptor tyrosine kinase
    HGNC:1097BRAFB-Raf proto-oncogene, serine/threonine kinase
    HGNC:1100BRCA1BRCA1 DNA repair associated
    HGNC:1101BRCA2BRCA2 DNA repair associated
    HGNC:1133BTKBruton tyrosine kinase
    HGNC:2561CXCR4C-X-C motif chemokine receptor 4
    HGNC:3236EGFRepidermal growth factor receptor
    HGNC:3430ERBB2erb-b2 receptor tyrosine kinase 2
    HGNC:3689FGFR2fibroblast growth factor receptor 2
    HGNC:3765FLT3fms related receptor tyrosine kinase 3
    HGNC:5382IDH1isocitrate dehydrogenase (NADP(+)) 1
    HGNC:5383IDH2isocitrate dehydrogenase (NADP(+)) 2
    HGNC:6342KITKIT proto-oncogene, receptor tyrosine kinase
    HGNC:13726KMT2Clysine methyltransferase 2C
    HGNC:6407KRASKRAS proto-oncogene, GTPase
    HGNC:6470L1CAML1 cell adhesion molecule
    HGNC:6840MAP2K1mitogen-activated protein kinase kinase 1
    HGNC:7029METMET proto-oncogene, receptor tyrosine kinase
    HGNC:7059MGMTO-6-methylguanine-DNA methyltransferase
    HGNC:7562MYD88MYD88 innate immune signal transduction adaptor
    HGNC:7765NF1neurofibromin 1
    HGNC:7910NPM1nucleophosmin 1
    HGNC:7989NRASNRAS proto-oncogene, GTPase
    HGNC:7997NRG1neuregulin 1
    HGNC:8031NTRK1neurotrophic receptor tyrosine kinase 1
    HGNC:8032NTRK2neurotrophic receptor tyrosine kinase 2
    HGNC:8033NTRK3neurotrophic receptor tyrosine kinase 3
    HGNC:8803PDGFRAplatelet derived growth factor receptor alpha
    HGNC:8975PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
    HGNC:9177POLEDNA polymerase epsilon, catalytic subunit
    HGNC:9864RARAretinoic acid receptor alpha
    HGNC:9967RETret proto-oncogene
    HGNC:10261ROS1ROS proto-oncogene 1, receptor tyrosine kinase
    HGNC:10680SDHAsuccinate dehydrogenase complex flavoprotein subunit A
    HGNC:10681SDHBsuccinate dehydrogenase complex iron sulfur subunit B
    HGNC:10682SDHCsuccinate dehydrogenase complex subunit C
    HGNC:10683SDHDsuccinate dehydrogenase complex subunit D
    HGNC:25941TET2tet methylcytosine dioxygenase 2
    HGNC:11998TP53tumor protein p53

German


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

  • Include these codes as defined in http://www.genenames.org/geneId version ⏿20250704
    CodeDisplayDefinition
    HGNC:76ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase
    HGNC:427ALKALK receptor tyrosine kinase
    HGNC:1097BRAFB-Raf proto-oncogene, serine/threonine kinase
    HGNC:1100BRCA1BRCA1 DNA repair associated
    HGNC:1101BRCA2BRCA2 DNA repair associated
    HGNC:1133BTKBruton tyrosine kinase
    HGNC:2561CXCR4C-X-C motif chemokine receptor 4
    HGNC:3236EGFRepidermal growth factor receptor
    HGNC:3430ERBB2erb-b2 receptor tyrosine kinase 2
    HGNC:3689FGFR2fibroblast growth factor receptor 2
    HGNC:3765FLT3fms related receptor tyrosine kinase 3
    HGNC:5382IDH1isocitrate dehydrogenase (NADP(+)) 1
    HGNC:5383IDH2isocitrate dehydrogenase (NADP(+)) 2
    HGNC:6342KITKIT proto-oncogene, receptor tyrosine kinase
    HGNC:13726KMT2Clysine methyltransferase 2C
    HGNC:6407KRASKRAS proto-oncogene, GTPase
    HGNC:6470L1CAML1 cell adhesion molecule
    HGNC:6840MAP2K1mitogen-activated protein kinase kinase 1
    HGNC:7029METMET proto-oncogene, receptor tyrosine kinase
    HGNC:7059MGMTO-6-methylguanine-DNA methyltransferase
    HGNC:7562MYD88MYD88 innate immune signal transduction adaptor
    HGNC:7765NF1neurofibromin 1
    HGNC:7910NPM1nucleophosmin 1
    HGNC:7989NRASNRAS proto-oncogene, GTPase
    HGNC:7997NRG1neuregulin 1
    HGNC:8031NTRK1neurotrophic receptor tyrosine kinase 1
    HGNC:8032NTRK2neurotrophic receptor tyrosine kinase 2
    HGNC:8033NTRK3neurotrophic receptor tyrosine kinase 3
    HGNC:8803PDGFRAplatelet derived growth factor receptor alpha
    HGNC:8975PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
    HGNC:9177POLEDNA polymerase epsilon, catalytic subunit
    HGNC:9864RARAretinoic acid receptor alpha
    HGNC:9967RETret proto-oncogene
    HGNC:10261ROS1ROS proto-oncogene 1, receptor tyrosine kinase
    HGNC:10680SDHAsuccinate dehydrogenase complex flavoprotein subunit A
    HGNC:10681SDHBsuccinate dehydrogenase complex iron sulfur subunit B
    HGNC:10682SDHCsuccinate dehydrogenase complex subunit C
    HGNC:10683SDHDsuccinate dehydrogenase complex subunit D
    HGNC:25941TET2tet methylcytosine dioxygenase 2
    HGNC:11998TP53tumor protein p53

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