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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
2149654019 Genetic test (procedure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
366581000077115 genetic test fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
366581000077115 genetic test fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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 Existential restriction modifier (core metadata concept)
Genetic test (procedure) Method (attribute) Evaluation - action (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept)
Genetic test (procedure) Method (attribute) Evaluation - action (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 1 subfamily A member 2 intermediate metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 1 subfamily A member 2 high intermediate metaboliser Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 1 subfamily A member 2 low normal metaboliser Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 1 subfamily A member 2 rapid metaboliser Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 1 subfamily A member 2 normal metaboliser Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 1 subfamily A member 2 ultra-rapid metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 3 subfamily A member 4 poor metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 3 subfamily A member 4 intermediate metaboliser Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Atopy (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
N-acetyltransferase 2 slow acetylator Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Human leucocyte antigen genotype determination Is a True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept)
Genetic susceptibility to malignant hyperthermia (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 4 subfamily F member 2 poor metabolizer Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Uncertain genetic susceptibility to malignant hyperthermia due to CACNA1S gene mutation Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation (finding) Interprets False Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation Interprets False Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Uncertain malignant hyperthermia predisposition due to RyR1 gene mutation Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 2 subfamily C member 9 *1/*3 intermediate metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 2 subfamily C member 9 *3/*3 poor metabolizer Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 2 subfamily C member 9 *2/*3 poor metabolizer Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Post-transcriptional genetic ribonucleic acid processing (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Human epidermal growth factor receptor 2 gene amplification detected (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Tumor mutational burden (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 3
High tumour mutational burden Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Low tumour mutational burden Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 7
Hypermelanotic pigmentary mosaicism Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary non-polyposis colon cancer gene mutation detected (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mitochondrial 1555 A to G mutation not detected Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mitochondrial 1555 A to G mutation detected (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Heterozygous protocadherin 19 gene mutation detected Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Human leukocyte antigen B27 not detected (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Human epidermal growth factor 2 gene amplification not detected (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Genetic predisposition to malignant neoplasm of prostate (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Heterozygous NFKBIA gene mutation detected (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Triplicated alpha globin gene Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary alpha-tryptasaemia trait detected Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Genetic screening for disorder Is a True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept)
Splice site mutation Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Missense mutation Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Synonymous single nucleotide substitution (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Intron 22 inversion (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Intron 1 inversion (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Structural variant Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Small deletion Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Small insertion Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mutation of promoter (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
UTR (untranslated region) mutation Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
ATP binding cassette subfamily G member 2 normal function (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
ATP binding cassette subfamily G member 2 poor function (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
ATP binding cassette subfamily G member 2 decreased function (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mixed field RhD (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Phosphatase and tensin homolog gene mutation detected (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Phosphatase and tensin homolog gene mutation not detected (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1

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