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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
Gene re-arrangement, gamma chain, T cell antigen receptor Interprets True Genetic test (procedure) Inferred relationship Some 1
Inab phenotype Interprets True Genetic test (procedure) Inferred relationship Some 2
Lu(b-) phenotype (finding) Interprets True Genetic test (procedure) Inferred relationship Some 2
Fy(a+b+) phenotype (finding) Interprets True Genetic test (procedure) Inferred relationship Some 2
Weak Fy^b^ phenotype (finding) Interprets True Genetic test (procedure) Inferred relationship Some 2
LuLu phenotype (finding) Interprets True Genetic test (procedure) Inferred relationship Some 2
Genetic finding detected Interprets False Genetic test (procedure) Inferred relationship Some 1
Genetic finding detected Interprets True Genetic test (procedure) Inferred relationship Some 1
Genetic finding not detected Interprets True Genetic test (procedure) Inferred relationship Some 1
Normal genetic findings Interprets True Genetic test (procedure) Inferred relationship Some 1
Breast cancer genetic marker of susceptibility not detected (finding) Interprets False Genetic test (procedure) Inferred relationship Some 1
Breast cancer genetic marker of susceptibility detected Interprets False Genetic test (procedure) Inferred relationship Some 1
Breast cancer genetic marker of susceptibility detected Interprets True Genetic test (procedure) Inferred relationship Some 1
Breast cancer genetic marker of susceptibility not detected (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Point mutation (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Chromosome microdeletion (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Mitochondrial 1555 A to G mutation not detected Interprets False Genetic test (procedure) Inferred relationship Some 2
Mitochondrial 1555 A to G mutation detected (finding) Interprets False Genetic test (procedure) Inferred relationship Some 2
Heterozygous protocadherin 19 gene mutation detected (finding) Interprets False Genetic test (procedure) Inferred relationship Some 2
Human epidermal growth factor 2 gene amplification not detected (finding) Interprets False Genetic test (procedure) Inferred relationship Some 2
Aromatase excess syndrome Interprets True Genetic test (procedure) Inferred relationship Some 1
Hereditary nonpolyposis colon cancer gene mutation positive Interprets False Genetic test (procedure) Inferred relationship Some 1
Mosaic Turner syndrome (disorder) Interprets True Genetic test (procedure) Inferred relationship Some 2
Mixed gonadal dysgenesis Interprets True Genetic test (procedure) Inferred relationship Some 3
Mosaicism 45, X or other cell line with abnormal sex chromosome Interprets True Genetic test (procedure) Inferred relationship Some 2
Mosaicism 45, X; 46, XX Interprets True Genetic test (procedure) Inferred relationship Some 1
Tumor protein p53 detected Interprets False Genetic test (procedure) Inferred relationship Some 3
Genetic susceptibility to genetic disorder (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Genetic susceptibility to cancer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Hereditary non-polyposis colon cancer gene mutation detected (finding) Interprets False Genetic test (procedure) Inferred relationship Some 2
Rhc negative (finding) Interprets True Genetic test (procedure) Inferred relationship Some 2
Rhc positive (finding) Interprets True Genetic test (procedure) Inferred relationship Some 2
Human leukocyte antigen phenotyping (procedure) Is a False Genetic test (procedure) Inferred relationship Some
Cytochrome P450 family 2 subfamily D member 6 poor metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily D member 6 intermediate metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily D member 6 normal metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily D member 6 ultra-rapid metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
UGT1A1 poor metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Uridine diphosphate glucuronosyltransferase family 1 member A1 intermediate metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
UGT1A1 normal metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Thiopurine S-methyltransferase poor metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
TPMT intermediate metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
TPMT normal metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Dihydropyrimidine dehydrogenase poor metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
DPYD intermediate metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Dihydropyrimidine dehydrogenase normal metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 9 poor metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
CYP2C9 intermediate metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 9 normal metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Solute carrier organic anion transporter family member 1B1 poor function (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
SLCO1B1 decreased function Interprets True Genetic test (procedure) Inferred relationship Some 1
SLCO1B1 normal function Interprets True Genetic test (procedure) Inferred relationship Some 1
Solute carrier organic anion transporter family member 1B1 increased function (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
CYP2B6 poor metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily B member 6 intermediate metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily B member 6 normal metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 19 poor metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
CYP2C19 intermediate metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
CYP2C19 normal metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 19 rapid metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 19 ultra-rapid metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Proteus syndrome Interprets False Genetic test (procedure) Inferred relationship Some 3
Paving stone nevus Interprets False Genetic test (procedure) Inferred relationship Some 3
Port-wine stain in proteus syndrome (disorder) Interprets False Genetic test (procedure) Inferred relationship Some 3
Cytochrome P450 family 3 subfamily A member 5 poor metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 3 subfamily A member 5 intermediate metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 3 subfamily A member 5 normal metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily D member 6 extensive metabolizer Interprets False Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily B member 6 rapid metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily B member 6 ultra-rapid metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
NUDT15 normal metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Nudix hydrolase 15 intermediate metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Nudix hydrolase 15 possible intermediate metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Nudix hydrolase 15 poor metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
NUDT15 deficiency Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 3 subfamily A member 4 high intermediate metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 3 subfamily A member 4 normal metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 3 subfamily A member 4 rapid metaboliser Interprets True Genetic test (procedure) Inferred relationship Some 1
Vitamin K epoxide reductase complex 1 poor metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 3 subfamily A member 4 low normal metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Vitamin K epoxide reductase complex 1 intermediate metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Vitamin K epoxide reductase complex 1 high intermediate metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Vitamin K epoxide reductase complex 1 normal metaboliser Interprets True Genetic test (procedure) Inferred relationship Some 1
Vitamin K epoxide reductase complex 1 low normal metaboliser Interprets True Genetic test (procedure) Inferred relationship Some 1
Vitamin K epoxide reductase complex 1 ultra-rapid metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 3 subfamily A member 4 ultra-rapid metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 3 subfamily A member 5 low normal metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 3 subfamily A member 5 high intermediate metaboliser Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 3 subfamily A member 5 rapid metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 3 subfamily A member 5 ultra-rapid metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily D member 6 rapid metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily D member 6 high intermediate metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Vitamin K epoxide reductase complex 1 rapid metaboliser Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily D member 6 low normal metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 9 ultra-rapid metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 9 high intermediate metaboliser Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 9 low normal metaboliser Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 9 rapid metaboliser Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 19 low normal metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 2 subfamily C member 19 high intermediate metaboliser Interprets True Genetic test (procedure) Inferred relationship Some 1
Cytochrome P450 family 1 subfamily A member 2 poor metabolizer Interprets True Genetic test (procedure) Inferred relationship Some 1

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