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Terminology chevron_right Concepts chevron_right 405825005

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Component

405825005

The component that hold information about this concept.

Fully Specified Name (FSN)

Molecular genetic test (procedure)

Shortest Term

Molecular genetic test

Definition Status

900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Molecular genetic test (procedure)

SCTID: 405825005, Primitive, Active

405825005|Molecular genetic test (procedure)|

en Molecular genetic test
en Molecular genetic test (procedure)

Expression

405825005 |Molecular genetic test (procedure)|
 <<< 405824009 |Genetic test (procedure)| : 
        { 260686004 |Method (attribute)| = 129265001 |Evaluation - action (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
2157599018 - Molecular genetic test (en) View
2157599018	en	Synonym (core metadata concept)	Molecular genetic test	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2149655018 - Molecular genetic test (procedure) (en) View
2149655018	en	Fully specified name (core metadata concept)	Molecular genetic test (procedure)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (3596605025) - 405825005 -> 129265001 (260686004) View
260686004 \|Method (attribute)\|	129265001 \|Evaluation - action (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2495931025) - 405825005 -> 129265001 (260686004) View
260686004 \|Method (attribute)\|	129265001 \|Evaluation - action (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2467406027) - 405825005 -> 405824009 (116680003) View
116680003 \|Is a (attribute)\|	405824009 \|Genetic test (procedure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
405824009 View
405824009	Genetic test (procedure)	Genetic test	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
925211000000100 View
925211000000100	Familial hypercholesterolemia targeted genetic test (procedure)	Familial hypercholesterolemia targeted genetic test	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
925221000000106 View
925221000000106	Familial hypercholesterolemia comprehensive genetic test (procedure)	Familial hypercholesterolemia comprehensive genetic test	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
443528002 View
443528002	Quantitation of bcr-abl t(9;22) translocation (procedure)	Quantitation of bcr-abl translocation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
443530000 View
443530000	Screen for 29 common genetic mutations of cystic fibrosis using amplification refractory mutation system polymerase chain reaction assay technique (procedure)	Cystic fibrosis 29 common mutation test	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
443889002 View
443889002	Factor viii mutation carrier detection test (procedure)	Factor viii mutation carrier detection test	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
443981000 View
443981000	Testing for known gene mutation in family member (procedure)	Testing for known gene mutation in family member	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
443982007 View
443982007	Targeted analysis for gene mutation (procedure)	Targeted analysis for gene mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
444032005 View
444032005	Detection of mutation in apolipoprotein b-100 gene (procedure)	Detection of mutation in apolipoprotein b-100 gene	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
444078002 View
444078002	Detection of arg3500gln mutation in apolipoprotein b-100 gene (procedure)	Detection of arg3527gln mutation in apolipoprotein b-100 gene	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
444149000 View
444149000	Detection of arg506gln mutation in gene of coagulation factor v gene and detection of g20210a mutation in gene of coagulation factor ii (procedure)	Detection of factor v leiden mutation and prothrombin g20210a mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
444157002 View
444157002	Detection of bcr-abl t(9;22) translocation (procedure)	Detection of bcr-abl translocation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
444225007 View
444225007	Detection of g20210a mutation in gene of coagulation factor ii (procedure)	Factor ii (prothrombin) g20210a mutation detection	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
444226008 View
444226008	Detection of mutation in low density lipoprotein receptor gene (procedure)	Detection of mutation in low density lipoprotein receptor gene	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
444260001 View
444260001	Screen for 20 common genetic mutations of cystic fibrosis using amplification refractory mutation system polymerase chain reaction assay technique (procedure)	Cystic fibrosis 20 common mutation test	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
437742006 View
437742006	Huntington disease gene mutation carrier detection test (procedure)	Huntington disease deoxyribonucleic acid (dna) test	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
405823003 View
405823003	Brca1 mutation carrier detection test (procedure)	Brca1 mutation carrier detection test	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
405826006 View
405826006	Brca2 mutation carrier detection test (procedure)	Brca2 mutation carrier detection test	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
405832001 View
405832001	Neurofibromatosis type 1 mutation carrier detection test (procedure)	Nf1 gene mutation carrier detection test	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
405835004 View
405835004	Von hippel-lindau disease mutation carrier detection test (procedure)	Vhl disease mutation carrier detection test	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
405836003 View
405836003	Neurofibromatosis type 2 mutation carrier detection test (procedure)	Nf2 gene mutation carrier detection test	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
405837007 View
405837007	Multiple endocrine neoplasia type 2a mutation carrier detection test (procedure)	Men 2a mutation carrier detection test	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
405838002 View
405838002	Multiple endocrine neoplasia type 2b mutation carrier detection test (procedure)	Multiple endocrine neoplasia type 2b mutation carrier detection test	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
405839005 View
405839005	Familial medullary thyroid carcinoma mutation carrier detection test (procedure)	Fmtc mutation carrier detection test	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
118117001 View
118117001	Gene mutation analysis (procedure)	Gene mutation analysis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

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