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405824009: Genetic test (procedure)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2004. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2149654019 Genetic test (procedure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2157598014 Genetic test en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

39 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genetic test (procedure) Is a Laboratory test true Inferred relationship Some
Genetic test (procedure) Method Evaluation - action false Inferred relationship Some
Genetic test (procedure) Method Evaluation - action true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Cytochrome P450 family 1 subfamily A member 2 poor metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 1 subfamily A member 2 intermediate metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 1 subfamily A member 2 high intermediate metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 1 subfamily A member 2 low normal metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 1 subfamily A member 2 rapid metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 1 subfamily A member 2 normal metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 1 subfamily A member 2 ultra-rapid metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 3 subfamily A member 4 poor metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 3 subfamily A member 4 intermediate metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Atopy Interprets True Genetic test (procedure) Inferred relationship Some 1
N-acetyltransferase 2 slow acetylator (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Human leukocyte antigen genotype determination Is a True Genetic test (procedure) Inferred relationship Some
Genetic susceptibility to malignant hyperthermia (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 4 subfamily F member 2 poor metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Uncertain genetic susceptibility to malignant hyperthermia due to CACNA1S gene mutation Interprets True Genetic test (procedure) Inferred relationship Some 1
Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation Interprets False Genetic test (procedure) Inferred relationship Some 1
Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation Interprets False Genetic test (procedure) Inferred relationship Some 1
Uncertain genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 9 *1/*3 intermediate metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 9 *3/*3 poor metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 9 *2/*3 poor metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Post-transcriptional genetic ribonucleic acid processing (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Human epidermal growth factor receptor 2 gene amplification detected (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Tumor mutational burden (finding) Interprets True Genetic test (procedure) Inferred relationship Some 3
High tumour mutational burden Interprets True Genetic test (procedure) Inferred relationship Some 3
Low tumor mutational burden (finding) Interprets True Genetic test (procedure) Inferred relationship Some 3
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder) Interprets True Genetic test (procedure) Inferred relationship Some 7
Hypermelanotic pigmentary mosaicism Interprets True Genetic test (procedure) Inferred relationship Some 2
Hereditary non-polyposis colon cancer gene mutation detected (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Mitochondrial 1555 A to G mutation not detected Interprets True Genetic test (procedure) Inferred relationship Some 1
Mitochondrial 1555 A to G mutation detected (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Heterozygous protocadherin 19 gene mutation detected (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Human leukocyte antigen B27 not detected (finding) Interprets True Genetic test (procedure) Inferred relationship Some 2
Human epidermal growth factor 2 gene amplification not detected (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation Interprets True Genetic test (procedure) Inferred relationship Some 2
Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation Interprets True Genetic test (procedure) Inferred relationship Some 2
Genetic predisposition to malignant neoplasm of prostate (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Heterozygous NFKBIA gene mutation detected (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Triplicated alpha globin gene Interprets True Genetic test (procedure) Inferred relationship Some 1
Hereditary alpha-tryptasemia trait detected (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Genetic screening for disorder Is a True Genetic test (procedure) Inferred relationship Some
Splice site mutation Interprets True Genetic test (procedure) Inferred relationship Some 1
Missense mutation Interprets True Genetic test (procedure) Inferred relationship Some 1
Synonymous single nucleotide substitution Interprets True Genetic test (procedure) Inferred relationship Some 1
Intron 22 inversion (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Intron 1 inversion (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Structural variant (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Small deletion Interprets True Genetic test (procedure) Inferred relationship Some 1
Small insertion Interprets True Genetic test (procedure) Inferred relationship Some 1
Mutation of promoter (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
UTR (untranslated region) mutation Interprets True Genetic test (procedure) Inferred relationship Some 1
ATP binding cassette subfamily G member 2 normal function (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
ABCG2 poor function Interprets True Genetic test (procedure) Inferred relationship Some 1
ATP binding cassette subfamily G member 2 decreased function (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Mixed field RhD (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Ovarian cancer genetic marker of susceptibility positive (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Endometrial cancer genetic marker of susceptibility positive (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Genetic predisposition to multiple endocrine adenomatosis (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1

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