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Terminology chevron_right Concepts chevron_right 1010400009

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Language with ID “d3e941ff-d7ae-5c93-b92e-ff402d72c1df” doesn’t exist. Perhaps it was deleted?

Component

1010400009

The component that hold information about this concept.

Fully Specified Name (FSN)

Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation (finding)

Shortest Term

Nguy cơ di truyền mắc chứng tăng thân nhiệt ác tính do đột biến gen ryr1 (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 ryanodine receptor 1 gene mutation (finding)

SCTID: 1010400009, Primitive, Active

1010400009|Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation (finding)|

vi Nguy cơ di truyền mắc chứng tăng thân nhiệt ác tính do đột biến gen ryr1 (phát hiện)
en Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation
en Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation (finding)
en Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation positive
en Genetic susceptibility to malignant hyperthermia due to ryr1 (ryanodine receptor 1) gene mutation positive

Expression

1010400009 |Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 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
2017361 - Nguy cơ di truyền mắc chứng tăng thân nhiệt ác tính do đột biến gen RYR1 (phát hiện) (vi) View
2017361	vi	Synonym (core metadata concept)	Nguy cơ di truyền mắc chứng tăng thân nhiệt ác tính do đột biến gen RYR1 (phát hiện)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5181116015 - Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation (en) View
5181116015	en	Synonym (core metadata concept)	Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5181117012 - Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation (finding) (en) View
5181117012	en	Fully specified name (core metadata concept)	Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation (finding)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4212727011 - Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation positive (finding) (en) View
4212727011	en	Fully specified name (core metadata concept)	Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation positive (finding)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	False
4212725015 - Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation positive (en) View
4212725015	en	Synonym (core metadata concept)	Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation positive	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
4212726019 - Genetic susceptibility to malignant hyperthermia due to RYR1 (ryanodine receptor 1) gene mutation positive (en) View
4212726019	en	Synonym (core metadata concept)	Genetic susceptibility to malignant hyperthermia due to RYR1 (ryanodine receptor 1) 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 (13203794024) - 1010400009 -> 10828004 (363713009) View
363713009 \|Has interpretation (attribute)\|	10828004 \|Positive (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13203795020) - 1010400009 -> 405824009 (363714003) View
363714003 \|Interprets (attribute)\|	405824009 \|Genetic test (procedure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15550326027) - 1010400009 -> 405824009 (363714003) View
363714003 \|Interprets (attribute)\|	405824009 \|Genetic test (procedure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15550327020) - 1010400009 -> 260373001 (363713009) View
363713009 \|Has interpretation (attribute)\|	260373001 \|Detected (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13203793029) - 1010400009 -> 890189007 (116680003) View
116680003 \|Is a (attribute)\|	890189007 \|Genetic susceptibility to malignant hyperthermia (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13203803029) - 1010400009 -> 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 (ad862607-9cb3-563d-90d1-00934460c123) 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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