405824009: genetic test (intervention)

SNOMED CT Concept\Procedure\...

\intervention selon la méthode\Evaluation procedure (procedure)\analyse de laboratoire\Genetic test (procedure)

\Laboratory procedure\analyse de laboratoire\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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Genetic test (procedure)	est un(e) (attribut)	analyse de laboratoire	true	Inferred relationship	Some
Genetic test (procedure)	méthode (attribut)	Evaluation - action	false	Inferred relationship	Some
Genetic test (procedure)	méthode (attribut)	Evaluation - action	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Weak G phenotype	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Blood group B	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
U- phenotype	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Blood group B>x<	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Blood group O>Hm<^A^	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Blood group B>m<^h^	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Cromer blood group phenotype	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Lutheran negative phenotype	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Inherited weak D phenotype	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Lutheran blood group phenotype	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Chido-Rodgers blood group phenotype	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Blood group B>m<	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Gene re-arrangement, B lymphocyte	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Gene re-arrangement, B lymphocyte, light chain	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Genetic mutation (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Blood group B variant	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Barr body absent, nuclear sex male	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Blood group A variant	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Intron	interprète (attribut)	False	Genetic test (procedure)	Inferred relationship	Some
Hh blood group phenotype	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Lu(a+b+) phenotype (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
M^k^M^k^ phenotype	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Suppressor mutation	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Le(a-) phenotype (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Le(a+) phenotype (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Gene re-arrangement, T lymphocyte	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Finding related to molecular sequence data	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Le(b-) phenotype (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Genetic alleles	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Kell blood group phenotype	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Genetic variation	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Genetic linkage equilibrium	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Blood group B>3<	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Le(b+) phenotype (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Gene re-arrangement, alpha chain, T cell antigen receptor	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Blood group B>w<	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Barr body, more than one present per cell	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Genetic transfection	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Lu(a-b-) phenotype (finding)	interprète (attribut)	False	Genetic test (procedure)	Inferred relationship	Some
Genetic polymorphism (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Atherogenic lipoprotein phenotype (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Secretor gene present (Se)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Lu(a-b+) phenotype (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Gene template	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Blood group A>1<B	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Lu(a-) phenotype (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Amino acid sequence	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Blood group O>h< Bombay	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Lu(b+) phenotype (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
En(a-)(Fin) phenotype	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Lu(a+) phenotype (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Genetic transactivation (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Proposita	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Weak N phenotype	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Lu(a+b-) phenotype (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Blood group O>Hm<^B^	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Ch-Rg- phenotype	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
M+ phenotype (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Gene re-arrangement, gamma chain, T cell antigen receptor	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Inab phenotype	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Lu(b-) phenotype (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Fy(a+b+) phenotype (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Weak Fy^b^ phenotype	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
LuLu phenotype	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Positive genetic finding (finding)	interprète (attribut)	False	Genetic test (procedure)	Inferred relationship	Some	1
Positive genetic finding (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Negative genetic finding (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Normal genetic findings	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Breast cancer genetic marker of susceptibility negative (finding)	interprète (attribut)	False	Genetic test (procedure)	Inferred relationship	Some	1
Breast cancer genetic marker of susceptibility positive (finding)	interprète (attribut)	False	Genetic test (procedure)	Inferred relationship	Some	1
Breast cancer genetic marker of susceptibility positive (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Breast cancer genetic marker of susceptibility negative (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Point mutation (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Chromosome microdeletion (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Mitochondrial 1555 A to G mutation negative	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Mitochondrial 1555 A to G mutation positive	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Heterozygous protocadherin 19 gene mutation positive (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Human epidermal growth factor 2 gene amplification negative	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
HNPCC gene mutation positive	interprète (attribut)	False	Genetic test (procedure)	Inferred relationship	Some	1
syndrome d'excès d'aromatase	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Hereditary nonpolyposis colon cancer gene mutation positive (finding)	interprète (attribut)	False	Genetic test (procedure)	Inferred relationship	Some	1
Mosaic Turner syndrome (disorder)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Mixed gonadal dysgenesis	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	3
Mosaicism 45, X or other cell line with abnormal sex chromosome	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Mosaicism 45, X; 46, XX	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Positive for tumor protein p53 (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	3
Genetic susceptibility to genetic disorder (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Genetic susceptibility to cancer (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Hereditary non-polyposis colon cancer gene mutation positive (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Rhc negative (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Rhc positive (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	2
Human leukocyte antigen phenotyping (procedure)	est un(e) (attribut)	False	Genetic test (procedure)	Inferred relationship	Some
Cytochrome P450 family 2 subfamily D member 6 poor metabolizer (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Cytochrome P450 family 2 subfamily D member 6 intermediate metabolizer (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Cytochrome P450 family 2 subfamily D member 6 normal metabolizer (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Cytochrome P450 family 2 subfamily D member 6 ultra-rapid metabolizer (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
UGT1A1 poor metabolizer	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Uridine diphosphate glucuronosyltransferase family 1 member A1 intermediate metabolizer (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
UGT1A1 normal metabolizer	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
Thiopurine S-methyltransferase poor metabolizer (finding)	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1
TPMT intermediate metabolizer	interprète (attribut)	True	Genetic test (procedure)	Inferred relationship	Some	1

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Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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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
366581000077115	genetic test	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
653541000077116	genetic test (intervention)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)