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Terminology chevron_right Concepts chevron_right 1186652002

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Component

1186652002

The component that hold information about this concept.

Fully Specified Name (FSN)

Inflammatory bowel disease, recurrent sinopulmonary infection syndrome (disorder)

Shortest Term

Nfat5 haploinsufficiency

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

Inflammatory bowel disease, recurrent sinopulmonary infection syndrome (disorder)

SCTID: 1186652002, Primitive, Active

1186652002|Inflammatory bowel disease, recurrent sinopulmonary infection syndrome (disorder)|

en Inflammatory bowel disease, recurrent sinopulmonary infection syndrome
en Inflammatory bowel disease, recurrent sinopulmonary infection syndrome (disorder)
en Nfat5 haploinsufficiency
en Nfat5 (nuclear factor of activated t cells 5) haploinsufficiency

Expression

1186652002 |Inflammatory bowel disease, recurrent sinopulmonary infection syndrome (disorder)|
 <<< 275498002 |Respiratory tract infection (disorder)| + 
58606001 |Primary immune deficiency disorder (disorder)| + 
782964007 |Genetic disease (disorder)| + 
85828009 |Autoimmune disease (disorder)| + 
1187638005 |Inflammation of intestine (disorder)| + 
451991000124106 |Recurrent infectious disease (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 409774005 |Inflammatory morphology (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 113276009 |Intestinal structure (body structure)|,
370135005 |Pathological process (attribute)| = 263680009 |Autoimmune process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 20139000 |Structure of respiratory system (body structure)|,
370135005 |Pathological process (attribute)| = 441862004 |Infectious process (qualifier value)| }
        { 263502005 |Clinical course (attribute)| = 255227004 |Recurrent (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
4667205016 - Inflammatory bowel disease, recurrent sinopulmonary infection syndrome (en) View
4667205016	en	Synonym (core metadata concept)	Inflammatory bowel disease, recurrent sinopulmonary infection syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4667206015 - Inflammatory bowel disease, recurrent sinopulmonary infection syndrome (disorder) (en) View
4667206015	en	Fully specified name (core metadata concept)	Inflammatory bowel disease, recurrent sinopulmonary infection syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4667204017 - NFAT5 haploinsufficiency (en) View
4667204017	en	Synonym (core metadata concept)	NFAT5 haploinsufficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
4667203011 - NFAT5 (nuclear factor of activated T cells 5) haploinsufficiency (en) View
4667203011	en	Synonym (core metadata concept)	NFAT5 (nuclear factor of activated T cells 5) haploinsufficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (14956034025) - 1186652002 -> 58184002 (116680003) View
116680003 \|Is a (attribute)\|	58184002 \|Recurrent disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15678589020) - 1186652002 -> 451991000124106 (116680003) View
116680003 \|Is a (attribute)\|	451991000124106 \|Recurrent infectious disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14956027027) - 1186652002 -> 128284006 (116680003) View
116680003 \|Is a (attribute)\|	128284006 \|Chronic digestive system disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (14956029029) - 1186652002 -> 17097001 (116680003) View
116680003 \|Is a (attribute)\|	17097001 \|Chronic disease of respiratory system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (14956030023) - 1186652002 -> 177010002 (116680003) View
116680003 \|Is a (attribute)\|	177010002 \|Chronic infectious disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (14956033020) - 1186652002 -> 413834006 (116680003) View
116680003 \|Is a (attribute)\|	413834006 \|Chronic disease of immune function (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (14956028021) - 1186652002 -> 128999004 (116680003) View
116680003 \|Is a (attribute)\|	128999004 \|Inflammatory disorder of digestive tract (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (14956032026) - 1186652002 -> 363169009 (116680003) View
116680003 \|Is a (attribute)\|	363169009 \|Inflammation of specific body organs (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (14956038027) - 1186652002 -> 85919009 (116680003) View
116680003 \|Is a (attribute)\|	85919009 \|Disorder of intestine (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (14976887025) - 1186652002 -> 1187638005 (116680003) View
116680003 \|Is a (attribute)\|	1187638005 \|Inflammation of intestine (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14956031022) - 1186652002 -> 275498002 (116680003) View
116680003 \|Is a (attribute)\|	275498002 \|Respiratory tract infection (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14956035029) - 1186652002 -> 58606001 (116680003) View
116680003 \|Is a (attribute)\|	58606001 \|Primary immune deficiency disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14956036028) - 1186652002 -> 782964007 (116680003) View
116680003 \|Is a (attribute)\|	782964007 \|Genetic disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14956037021) - 1186652002 -> 85828009 (116680003) View
116680003 \|Is a (attribute)\|	85828009 \|Autoimmune disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14956039024) - 1186652002 -> 255227004 (263502005) View
263502005 \|Clinical course (attribute)\|	255227004 \|Recurrent (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14956040021) - 1186652002 -> 113276009 (363698007) View
363698007 \|Finding site (attribute)\|	113276009 \|Intestinal structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14956041020) - 1186652002 -> 409774005 (116676008) View
116676008 \|Associated morphology (attribute)\|	409774005 \|Inflammatory morphology (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14956042029) - 1186652002 -> 263680009 (370135005) View
370135005 \|Pathological process (attribute)\|	263680009 \|Autoimmune process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14956043023) - 1186652002 -> 20139000 (363698007) View
363698007 \|Finding site (attribute)\|	20139000 \|Structure of respiratory system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14956044028) - 1186652002 -> 441862004 (370135005) View
370135005 \|Pathological process (attribute)\|	441862004 \|Infectious process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
451991000124106 View
451991000124106	Recurrent infectious disease (disorder)	Recurrent infection	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1187638005 View
1187638005	Inflammation of intestine (disorder)	Enteritis of intestine	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
782964007 View
782964007	Genetic disease (disorder)	Genetic disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85828009 View
85828009	Autoimmune disease (disorder)	Bệnh tự miễn	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
275498002 View
275498002	Respiratory tract infection (disorder)	Nhiễm trùng đường hô hấp	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
58606001 View
58606001	Primary immune deficiency disorder (disorder)	Primary immunodeficiency	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 (5e6843fa-f783-5380-a463-9c78e9358e8b) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D84.8	TRUE	ALWAYS D84.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|

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