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Terminology chevron_right Concepts chevron_right 55446002

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Component

55446002

The component that hold information about this concept.

Fully Specified Name (FSN)

Genetic mutation (finding)

Shortest Term

Genetic mutation

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

Genetic mutation (finding)

SCTID: 55446002, Primitive, Active

55446002|Genetic mutation (finding)|

vi Đột biến di truyền (phát hiện)
en Genetic mutation
en Genetic mutation (finding)

Expression

55446002 |Genetic mutation (finding)|
 <<< 106221001 |Genetic finding (finding)| : 
        { 363714003 |Interprets (attribute)| = 405824009 |Genetic test (procedure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
2017344 - Đột biến di truyền (phát hiện) (vi) View
2017344	vi	Synonym (core metadata concept)	Đột biến di truyền (phát hiện)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
92181010 - Genetic mutation (en) View
92181010	en	Synonym (core metadata concept)	Genetic mutation	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
793806018 - Genetic mutation (finding) (en) View
793806018	en	Fully specified name (core metadata concept)	Genetic mutation (finding)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (3599071022) - 55446002 -> 405824009 (363714003) View
363714003 \|Interprets (attribute)\|	405824009 \|Genetic test (procedure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2787813020) - 55446002 -> 15220000 (363714003) View
363714003 \|Interprets (attribute)\|	15220000 \|Laboratory test (procedure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2866221023) - 55446002 -> 71388002 (418775008) View
418775008 \|Finding method (attribute)\|	71388002 \|Procedure (procedure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (238258021) - 55446002 -> 106221001 (116680003) View
116680003 \|Is a (attribute)\|	106221001 \|Genetic finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
106221001 View
106221001	Genetic finding (finding)	Genetic finding	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1365861003 View
1365861003	Lynch syndrome gene mutation detected (finding)	Lynch syndrome gene mutation detected	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1336122005 View
1336122005	Small deletion (finding)	Small deletion	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1336123000 View
1336123000	Small insertion (finding)	Small insertion	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1336206001 View
1336206001	Mutation of promoter (finding)	Promoter mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1336209008 View
1336209008	Mutation of untranslated region (finding)	Mutation of untranslated region	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1306850007 View
1306850007	Missense mutation (finding)	Missense	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1306851006 View
1306851006	Splice site mutation (finding)	Splice site mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1306861004 View
1306861004	Synonymous single nucleotide substitution (finding)	Synonymous single nucleotide substitution	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1331913009 View
1331913009	Structural variant (finding)	Structural variant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1179760003 View
1179760003	Tumor mutational burden (finding)	Tumor mutational burden	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1099611000119109 View
1099611000119109	Hereditary non-polyposis colon cancer gene mutation detected (finding)	Hereditary nonpolyposis colon cancer gene mutation positive	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
430934002 View
430934002	Mitochondrial mutation (finding)	Mitochondrial mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
124975008 View
124975008	Somatic mutation (finding)	Somatic mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
124976009 View
124976009	Temperature-sensitive mutation (finding)	Temperature-sensitive mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
325753009 View
325753009	Frame-shift mutation (finding)	Frame-shift mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
326724004 View
326724004	Suppressor mutation (finding)	Suppressor mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
327671006 View
327671006	Nonsense mutation (finding)	Nonsense mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (6eee8056-f0ef-563c-8e49-8ad9ec05f964) 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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