Genetic finding
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Positive genetic finding (finding)
Positive genetic finding
positieve genetische bevinding
Id412731001
StatusPrimitive
Has interpretationPositive
InterpretsGenetic test
ICD-10 complex map reference set
Target
RuleTRUE
AdviceMAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA
CorrelationSNOMED CT source code to target map code correlation not specified
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Anaplastic lymphoma kinase positive
BAP-1 inactivation present
BRAF mutation present
Breast cancer genetic marker of susceptibility positive2
c-KIT mutation present
Chromosome break present2
Epidermal growth factor receptor mutation positive
Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation positive
Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation positive
Hereditary non-polyposis colon cancer gene mutation positive
Heterozygous protocadherin 19 gene mutation positive
HLA-A*31:01 positive
HLA-B*15:02 positive
HLA-B*57:01 positive
HLA-B*58:01 positive
Human leukocyte antigen DQB1*02:02 positive
Isocitrate dehydrogenase mutation present
KRAS mutation present
Mitochondrial 1555 A to G mutation positive
NRAS mutation present
PDGFR mutation present
Positive for tumor protein p53
SMARCB1 gene mutation positive