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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
Gene re-arrangement, gamma chain, T cell antigen receptor (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Inab phenotype Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Lu(b-) phenotype Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Fy(a+b+) phenotype (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Weak Fy^b^ phenotype (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 2
LuLu phenotype (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Positive genetic finding Interprets False Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Positive genetic finding Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Genetic finding not detected Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Normal genetic findings (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Breast cancer genetic marker of susceptibility not detected (finding) Interprets False Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Breast cancer genetic marker of susceptibility positive Interprets False Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Breast cancer genetic marker of susceptibility positive Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Breast cancer genetic marker of susceptibility not detected (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Point mutation (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosome microdeletion (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mitochondrial 1555 A to G mutation not detected Interprets False Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Mitochondrial 1555 A to G mutation detected (finding) Interprets False Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Heterozygous protocadherin 19 gene mutation detected Interprets False Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Human epidermal growth factor 2 gene amplification not detected (finding) Interprets False Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Aromatase excess syndrome (disorder) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary nonpolyposis colon cancer gene mutation positive Interprets False Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic Turner syndrome Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Mixed gonadal dysgenesis Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Mosaicism 45, X or other cell line with abnormal sex chromosome Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaicism 45, X; 46, XX Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Tumor protein p53 detected (finding) Interprets False Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Genetic susceptibility to genetic disorder (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Genetic susceptibility to cancer (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary non-polyposis colon cancer gene mutation detected (finding) Interprets False Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Rhc negative (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Rhc positive Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Human leukocyte antigen phenotyping (procedure) Is a False Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome P450 family 2 subfamily D member 6 poor metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 2 subfamily D member 6 intermediate metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
CYP2D6 normal metaboliser Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
CYP2D6 ultra-rapid metabolizer Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
UGT1A1 poor metabolizer Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Uridine diphosphate glucuronosyltransferase family 1 member A1 intermediate metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
UGT1A1 normal metabolizer Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
TPMT poor metabolizer Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
TPMT intermediate metabolizer Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
TPMT normal metabolizer Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Dihydropyrimidine dehydrogenase poor metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
DPYD intermediate metaboliser Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
DPYD normal metaboliser Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
CYP2C9 poor metabolizer Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 2 subfamily C member 9 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 normal metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Solute carrier organic anion transporter family member 1B1 poor function (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
SLCO1B1 decreased function Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
SLCO1B1 normal function Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Solute carrier organic anion transporter family member 1B1 increased function (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
CYP2B6 poor metabolizer Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
CYP2B6 intermediate metabolizer Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 2 subfamily B member 6 normal metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
CYP2C19 poor metaboliser Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
CYP2C19 intermediate metabolizer Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
CYP2C19 normal metabolizer Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 2 subfamily C member 19 rapid metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
CYP2C19 ultra-rapid metabolizer Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proteus syndrome Interprets False Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Paving stone nevus Interprets False Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Port-wine stain in proteus syndrome (disorder) Interprets False Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Cytochrome P450 family 3 subfamily A member 5 poor metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 3 subfamily A member 5 intermediate metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 3 subfamily A member 5 normal metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 2 subfamily D member 6 extensive metabolizer Interprets False Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 2 subfamily B member 6 rapid metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 2 subfamily B member 6 ultra-rapid metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
NUDT15 normal metabolizer Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
NUDT15 intermediate metaboliser Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Nudix hydrolase 15 possible intermediate metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Nudix hydrolase 15 poor metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
NUDT15 deficiency Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 3 subfamily A member 4 high intermediate metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 3 subfamily A member 4 normal metabolizer Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 3 subfamily A member 4 rapid metabolizer Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Vitamin K epoxide reductase complex 1 poor metabolizer Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 3 subfamily A member 4 low normal metabolizer Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Vitamin K epoxide reductase complex 1 intermediate metaboliser Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Vitamin K epoxide reductase complex 1 high intermediate metabolizer Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Vitamin K epoxide reductase complex 1 normal metaboliser Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Vitamin K epoxide reductase complex 1 low normal metaboliser Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Vitamin K epoxide reductase complex 1 ultra-rapid metaboliser Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 3 subfamily A member 4 ultra-rapid metaboliser Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 3 subfamily A member 5 low normal metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 3 subfamily A member 5 high intermediate metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 3 subfamily A member 5 rapid metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 3 subfamily A member 5 ultra-rapid metabolizer Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 2 subfamily D member 6 rapid metaboliser Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 2 subfamily D member 6 high intermediate metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Vitamin K epoxide reductase complex 1 rapid metaboliser Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 2 subfamily D member 6 low normal metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 2 subfamily C member 9 ultra-rapid metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 2 subfamily C member 9 high intermediate metaboliser Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 2 subfamily C member 9 low normal metabolizer Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 2 subfamily C member 9 rapid metabolizer (finding) Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 2 subfamily C member 19 low normal metaboliser Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cytochrome P450 family 2 subfamily C member 19 high 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 poor metabolizer Interprets True Genetic test (procedure) Inferred relationship Existential restriction modifier (core metadata concept) 1

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