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Terminology chevron_right Concepts chevron_right 1141749000

Production

Component

The component that hold information about this concept.

Fully Specified Name (FSN)

Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 s gene mutation (finding)

Shortest Term

Nguy cơ di truyền mắc tăng thân nhiệt ác tính do đột biến gen cacna1s (phát hiện)

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 susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 s gene mutation (finding)

SCTID: 1141749000, Primitive, Active

1141749000|Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 s gene mutation (finding)|

vi Nguy cơ di truyền mắc tăng thân nhiệt ác tính do đột biến gen cacna1s (phát hiện)
en Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 s gene mutation
en Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 s gene mutation (finding)
en Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 s gene mutation positive
en Malignant hyperthermia predisposition due to cacna1s (calcium voltage-gated channel subunit alpha1 s) gene mutation positive

Expression

1141749000 |Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 s gene mutation (finding)|
 <<< 890189007 |Genetic susceptibility to malignant hyperthermia (finding)| + 
412731001 |Genetic finding detected (finding)|
        { 363713009 |Has interpretation (attribute)| = 260373001 |Detected (qualifier value)|,
363714003 |Interprets (attribute)| = 405824009 |Genetic test (procedure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
2017360 - Nguy cơ di truyền mắc tăng thân nhiệt ác tính do đột biến gen CACNA1S (phát hiện) (vi) View
2017360	vi	Synonym (core metadata concept)	Nguy cơ di truyền mắc tăng thân nhiệt ác tính do đột biến gen CACNA1S (phát hiện)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5181118019 - Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation (en) View
5181118019	en	Synonym (core metadata concept)	Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
5181119010 - Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation (finding) (en) View
5181119010	en	Fully specified name (core metadata concept)	Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation (finding)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
4535199017 - Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation positive (finding) (en) View
4535199017	en	Fully specified name (core metadata concept)	Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation positive (finding)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	False
4535200019 - Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation positive (en) View
4535200019	en	Synonym (core metadata concept)	Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation positive	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
4535201015 - Malignant hyperthermia predisposition due to CACNA1S (calcium voltage-gated channel subunit alpha1 S) gene mutation positive (en) View
4535201015	en	Synonym (core metadata concept)	Malignant hyperthermia predisposition due to CACNA1S (calcium voltage-gated channel subunit alpha1 S) gene mutation positive	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13643128028) - 1141749000 -> 10828004 (363713009) View
363713009 \|Has interpretation (attribute)\|	10828004 \|Positive (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13643129020) - 1141749000 -> 405824009 (363714003) View
363714003 \|Interprets (attribute)\|	405824009 \|Genetic test (procedure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15550328026) - 1141749000 -> 405824009 (363714003) View
363714003 \|Interprets (attribute)\|	405824009 \|Genetic test (procedure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15550329023) - 1141749000 -> 260373001 (363713009) View
363713009 \|Has interpretation (attribute)\|	260373001 \|Detected (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13643126029) - 1141749000 -> 890189007 (116680003) View
116680003 \|Is a (attribute)\|	890189007 \|Genetic susceptibility to malignant hyperthermia (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13643127022) - 1141749000 -> 412731001 (116680003) View
116680003 \|Is a (attribute)\|	412731001 \|Genetic finding detected (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
412731001 View
412731001	Genetic finding detected (finding)	Genetic finding detected	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
890189007 View
890189007	Genetic susceptibility to malignant hyperthermia (finding)	Malignant hyperthermia genetic susceptibility	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 (1265e5cf-b32c-5c5a-a0a4-2c6f5c56185b) 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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