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405824009: Genetic test (procedure)

Status: current, Primitive. 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 Case insensitive SNOMED CT core
2157598014 Genetic test en Synonym Active Case insensitive SNOMED CT core

68 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genetic test Is a Laboratory test true Inferred relationship Some
Genetic test Method Evaluation - action false Inferred relationship Some
Genetic test Method Evaluation - action true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
CYP2B6 rapid metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP2B6 ultra-rapid metaboliser Interprets True Genetic test Inferred relationship Some 1
Nudix hydrolase 15 normal metaboliser Interprets True Genetic test Inferred relationship Some 1
Nudix hydrolase 15 intermediate metaboliser Interprets True Genetic test Inferred relationship Some 1
Nudix hydrolase 15 possible intermediate metaboliser Interprets True Genetic test Inferred relationship Some 1
Nudix hydrolase 15 poor metaboliser Interprets True Genetic test Inferred relationship Some 1
Paternally inherited SDHD gene mutation Interprets False Genetic test Inferred relationship Some
SDHB gene mutation Interprets False Genetic test Inferred relationship Some
SDHA gene mutation Interprets False Genetic test Inferred relationship Some
SDHC gene mutation Interprets False Genetic test Inferred relationship Some
Maternally inherited SDHD gene mutation Interprets False Genetic test Inferred relationship Some
TMEM127 gene mutation Interprets False Genetic test Inferred relationship Some
Maternally inherited SDHAF2 gene mutation Interprets False Genetic test Inferred relationship Some
FH gene mutation Interprets False Genetic test Inferred relationship Some
Paternally inherited SDHAF2 gene mutation Interprets False Genetic test Inferred relationship Some
Maternally inherited MAX gene mutation Interprets False Genetic test Inferred relationship Some
Paternally inherited MAX gene mutation Interprets False Genetic test Inferred relationship Some
AIP gene mutation Interprets False Genetic test Inferred relationship Some
NUDT15 deficiency Interprets True Genetic test Inferred relationship Some 1
CYP3A4 high intermediate metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP3A4 normal metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP3A4 rapid metaboliser Interprets True Genetic test Inferred relationship Some 1
VKORC1 poor metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP3A4 low normal metaboliser Interprets True Genetic test Inferred relationship Some 1
VKORC1 intermediate metaboliser Interprets True Genetic test Inferred relationship Some 1
VKORC1 high intermediate metaboliser Interprets True Genetic test Inferred relationship Some 1
VKORC1 normal metaboliser Interprets True Genetic test Inferred relationship Some 1
VKORC1 low normal metaboliser Interprets True Genetic test Inferred relationship Some 1
VKORC1 ultra-rapid metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP3A4 ultra-rapid metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP3A5 low normal metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP3A5 high intermediate metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP3A5 rapid metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP3A5 ultra-rapid metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP2D6 rapid metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP2D6 high intermediate metaboliser Interprets True Genetic test Inferred relationship Some 1
VKORC1 rapid metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP2D6 low normal metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP2C9 ultra-rapid metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP2C9 high intermediate metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP2C9 low normal metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP2C9 rapid metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP2C19 low normal metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP2C19 high intermediate metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP1A2 poor metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP1A2 intermediate metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP1A2 high intermediate metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP1A2 low normal metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP1A2 rapid metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP1A2 normal metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP1A2 ultra-rapid metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP3A4 poor metaboliser Interprets True Genetic test Inferred relationship Some 1
CYP3A4 intermediate metaboliser Interprets True Genetic test Inferred relationship Some 1
Atopy Interprets True Genetic test Inferred relationship Some 1
N-acetyltransferase 2 slow acetylator Interprets True Genetic test Inferred relationship Some 1
HLA (Human leucocyte antigen) genotyping Is a True Genetic test Inferred relationship Some
Malignant hyperthermia genetic susceptibility Interprets True Genetic test Inferred relationship Some 1
Cytochrome P450 family 4 subfamily F member 2 poor metaboliser Interprets True Genetic test Inferred relationship Some 1
Uncertain genetic susceptibility to malignant hyperthermia due to CACNA1S gene mutation Interprets True Genetic test Inferred relationship Some 1
Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation positive Interprets True Genetic test Inferred relationship Some 1
Paternally inherited MAX gene mutation Interprets True Genetic test Inferred relationship Some 1946671443
Mutated phenotype Interprets True Genetic test Inferred relationship Some 996135598
SDHB gene mutation Interprets True Genetic test Inferred relationship Some 2107107077
TMEM127 gene mutation Interprets True Genetic test Inferred relationship Some 341651769
Maternally inherited SDHAF2 gene mutation Interprets True Genetic test Inferred relationship Some 1748969449
SDHC gene mutation Interprets True Genetic test Inferred relationship Some 115422987
FH gene mutation Interprets True Genetic test Inferred relationship Some 1565168862
SDHA gene mutation Interprets True Genetic test Inferred relationship Some 1111265032
Maternally inherited MAX gene mutation Interprets True Genetic test Inferred relationship Some 1279845867
Wild type phenotype Interprets True Genetic test Inferred relationship Some 1385909841
Paternally inherited SDHAF2 gene mutation Interprets True Genetic test Inferred relationship Some 633075990
Maternally inherited SDHD gene mutation Interprets True Genetic test Inferred relationship Some 1724890929
AIP gene mutation Interprets True Genetic test Inferred relationship Some 665506403
Paternally inherited SDHD gene mutation Interprets True Genetic test Inferred relationship Some 2021476985
Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation positive Interprets True Genetic test Inferred relationship Some 1
Uncertain malignant hyperthermia predisposition due to RyR1 gene mutation Interprets True Genetic test Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 9 *1/*3 intermediate metaboliser Interprets True Genetic test Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 9 *3/*3 poor metaboliser Interprets True Genetic test Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 9 *2/*3 poor metaboliser Interprets True Genetic test Inferred relationship Some 1
Post-transcriptional genetic ribonucleic acid processing Interprets True Genetic test Inferred relationship Some 1
Human epidermal growth factor receptor 2 gene amplification detected Interprets True Genetic test Inferred relationship Some 1
Tumour mutational burden Interprets True Genetic test Inferred relationship Some 3
High tumour mutational burden Interprets True Genetic test Inferred relationship Some 3
Low tumour mutational burden Interprets True Genetic test Inferred relationship Some 3
RhE positive Interprets True Genetic test Inferred relationship Some 1792462252
Rhe positive Interprets True Genetic test Inferred relationship Some 1043693709
Rhe negative Interprets True Genetic test Inferred relationship Some 120459605
RhE negative Interprets True Genetic test Inferred relationship Some 2016440367
RhC negative Interprets True Genetic test Inferred relationship Some 1474708844
RhC positive Interprets True Genetic test Inferred relationship Some 365605072
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome Interprets True Genetic test Inferred relationship Some 7
Hypermelanotic pigmentary mosaicism Interprets True Genetic test Inferred relationship Some 2
BRAF V600E mutation Interprets True Genetic test Inferred relationship Some 228440879
Molecular genetic test Is a True Genetic test Inferred relationship Some
Genetic investigation procedure Has focus False Genetic test Inferred relationship Some
Family investigation Has focus False Genetic test Inferred relationship Some
Acquired Lutheran negative phenotype Interprets True Genetic test Inferred relationship Some 2
Nucleic acid repetitive sequence Interprets True Genetic test Inferred relationship Some 1
En(a-)(UK) phenotype Interprets True Genetic test Inferred relationship Some 2
Fy(a+b-) phenotype Interprets True Genetic test Inferred relationship Some 2
Fy(a-b+) phenotype Interprets True Genetic test Inferred relationship Some 2

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Reference Sets

Testing method reference set

Procedure foundation reference set

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