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Terminology chevron_right Concepts chevron_right 412734009

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Component

412734009

The component that hold information about this concept.

Fully Specified Name (FSN)

Brca1 gene mutation detected (finding)

Shortest Term

Brca1 gene mutation detected

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

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

Summary

Brca1 gene mutation detected (finding)

SCTID: 412734009, Defined, Active

412734009|Brca1 gene mutation detected (finding)|

vi Phát hiện đột biến gen brca1 (phát hiện)
en Brca1 gene mutation detected
en Brca1 gene mutation detected (finding)
en Breast cancer 1, early onset gene mutation positive
en Brca1 gene mutation positive

Expression

412734009 |Brca1 gene mutation detected (finding)|
 === 445333001 |Breast cancer genetic marker of susceptibility detected (finding)| : 
        { 363713009 |Has interpretation (attribute)| = 260373001 |Detected (qualifier value)|,
363714003 |Interprets (attribute)| = 405823003 |Brca1 mutation carrier detection test (procedure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
2005844 - Phát hiện đột biến gen BRCA1 (phát hiện) (vi) View
2005844	vi	Synonym (core metadata concept)	Phát hiện đột biến gen BRCA1 (phát hiện)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5181102013 - BRCA1 gene mutation detected (en) View
5181102013	en	Synonym (core metadata concept)	BRCA1 gene mutation detected	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
5181101018 - BRCA1 gene mutation detected (finding) (en) View
5181101018	en	Fully specified name (core metadata concept)	BRCA1 gene mutation detected (finding)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
2468187015 - BRCA1 gene mutation positive (finding) (en) View
2468187015	en	Fully specified name (core metadata concept)	BRCA1 gene mutation positive (finding)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	False
2871914019 - Breast cancer 1, early onset gene mutation positive (en) View
2871914019	en	Synonym (core metadata concept)	Breast cancer 1, early onset gene mutation positive	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2474292019 - BRCA1 gene mutation positive (en) View
2474292019	en	Synonym (core metadata concept)	BRCA1 gene mutation positive	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (3523327027) - 412734009 -> 10828004 (363713009) View
363713009 \|Has interpretation (attribute)\|	10828004 \|Positive (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15550296020) - 412734009 -> 260373001 (363713009) View
363713009 \|Has interpretation (attribute)\|	260373001 \|Detected (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2635943021) - 412734009 -> 405823003 (363714003) View
363714003 \|Interprets (attribute)\|	405823003 \|Brca1 mutation carrier detection test (procedure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3479528020) - 412734009 -> 10828004 (363713009) View
363713009 \|Has interpretation (attribute)\|	10828004 \|Positive (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3479529028) - 412734009 -> 405823003 (363714003) View
363714003 \|Interprets (attribute)\|	405823003 \|Brca1 mutation carrier detection test (procedure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2562602024) - 412734009 -> 412731001 (116680003) View
116680003 \|Is a (attribute)\|	412731001 \|Genetic finding detected (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3773259020) - 412734009 -> 445333001 (116680003) View
116680003 \|Is a (attribute)\|	445333001 \|Breast cancer genetic marker of susceptibility detected (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2883417025) - 412734009 -> 71388002 (418775008) View
418775008 \|Finding method (attribute)\|	71388002 \|Procedure (procedure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
445333001 View
445333001	Breast cancer genetic marker of susceptibility detected (finding)	Breast cancer genetic marker of susceptibility detected	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (ecc4e93e-d9ce-59e2-88e5-09822059600b) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	-	TRUE	MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447638001 \|Map source concept cannot be classified with available data (foundation metadata concept)\|

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