EGFR Exon 19 Deletion Mutation

Preferred Label : EGFR Exon 19 Deletion Mutation;

NCIt synonyms : HER1 Exon 19 Deletion Mutation; ERBB1 Exon 19 Deletion Mutation; Epidermal Growth Factor Receptor Gene Exon 19 Deletion Mutation; ERBB Exon 19 Deletion Mutation; Ex19Del; EGFR Ex19Del; EGFR Exon 19 Gene Deletion Mutation; EGFR del19; EGFR DEL19 Mutation;

NCIt related terms : Exon 19 Deletion;

NCIt definition : In-frame deletions occurring within the exon 19-encoded part of the epidermal growth factor receptor (EGFR) kinase domain. These mutations are commonly seen in non-small cell lung cancer and are associated with increased sensitivity to EGFR tyrosine kinase inhibitors.;

NCI Metathesaurus CUI : CL508156;

Details

Origin ID

C126892;

UMLS CUI

C4289657;

Automatic exact mappings (from CISMeF team)
- EGFR gene exon 19 deletion [LOINC component]
Currated CISMeF NLP mapping
- EGFR exon 19 deletion [MedDRA LLT]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CPTAC Baseline Medical Forms Terminology [NCIt concept]
- CPTAC Lung Squamous Cell Carcinoma and Lung Adenocarcinoma Baseline Form [NCIt concept]
- CPTAC Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_mutant_encodes_gene_product_sequence_variation
- EGFR Protein Variant [NCIt concept]
is_target
- EGFR Inhibitor WJ13404 [NCIt concept]
- EGFR Inhibitor XZP-5809 [NCIt concept]
- EGFR Inhibitor XZP-5809 Tartrate [NCIt concept]
- EGFR Mutant-selective Inhibitor BLU-701 [NCIt concept]
- EGFR Mutant-selective Inhibitor FWD1509 MsOH [NCIt concept]
- EGFR Mutant-selective Inhibitor H002 [NCIt concept]
- EGFR Mutant-selective Inhibitor QLH11811 [NCIt concept]
- EGFR Mutant-specific Inhibitor ZN-e4 [NCIt concept]
- Lazertinib [NCIt concept]
- Osimertinib [NCIt concept]
- Osimertinib Mesylate [NCIt concept]
- Tigozertinib [NCIt concept]
molecular_abnormality_involves_gene
- EGFR Gene [NCIt concept]
- Receptor Tyrosine Kinase Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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