Genetic finding detected 412731001 SNOMED CT code SNOMED code 412731001 name Genetic finding detected status active date introduced 2004-07-31 fully specified name(s) Genetic finding detected (finding) synonyms Positive genetic finding Genetic finding detected attributes - group1 Has interpretation Detected 260373001 Interprets Genetic test 405824009 parents Genetic finding 106221001 children Breast cancer genetic marker of susceptibility detected 445333001 Endometrial cancer genetic marker of susceptibility positive 85111000119102 Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation 1141749000 Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation 1010400009 Hereditary alpha-tryptasemia trait detected 1296783008 Hereditary non-polyposis colon cancer gene mutation detected 1099611000119109 Hereditary nonpolyposis colon cancer gene mutation positive 713613007 removed: 2020-01-31 Heterozygous NFKBIA gene mutation detected 1279971008 Heterozygous protocadherin 19 gene mutation detected 702783007 HLA-A*31:01 detected 738783002 HLA-B*15:02 detected 738785009 HLA-B*57:01 detected 738288005 HLA-B*58:01 positive 739072007 Human epidermal growth factor receptor 2 gene amplification detected 1162602001 Human leukocyte antigen B*15:11 detected 721211000124101 Human leukocyte antigen B5701 detected 713597002 Human leukocyte antigen DQB1*02:02 positive 1003641004 Mitochondrial 1555 A to G mutation detected 702782002 Ovarian cancer genetic marker of susceptibility positive 85101000119100 Tumor protein p53 detected 719007008 hierarchies a selection of possible paths
SNOMED CT Concept 138875005 404684003 127325009 441742003 106221001 412731001 ancestors sorted most to least specific
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