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Terminology chevron_right Concepts chevron_right 1187048006

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Component

1187048006

The component that hold information about this concept.

Fully Specified Name (FSN)

Aicardi goutieres syndrome type 4 (disorder)

Shortest Term

Aicardi goutieres syndrome type 4

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

Aicardi goutieres syndrome type 4 (disorder)

SCTID: 1187048006, Primitive, Active

1187048006|Aicardi goutieres syndrome type 4 (disorder)|

en Aicardi goutieres syndrome type 4
en Aicardi goutieres syndrome type 4 (disorder)

Expression

1187048006 |Aicardi goutieres syndrome type 4 (disorder)|
 <<< 230312006 |Aicardi goutieres syndrome (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 18115005 |Pathologic calcification, calcified structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 32610002 |Basal ganglion structure (body structure)| }
        { 363713009 |Has interpretation (attribute)| = 263654008 |Abnormal (qualifier value)|,
363714003 |Interprets (attribute)| = 363847004 |Movement observable (observable entity)| }
        { 116676008 |Associated morphology (attribute)| = 125495003 |Myelin sheath alteration (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 54115001 |Myelinated nerve fiber structure (body structure)| }
        { 116676008 |Associated morphology (attribute)| = 4720007 |Dystrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 389080008 |White matter structure of brain and spinal cord (body structure)| }
        { 116676008 |Associated morphology (attribute)| = 409774005 |Inflammatory morphology (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 116003000 |Structure of immune system (body structure)|,
370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
4669243010 - Aicardi Goutieres syndrome type 4 (en) View
4669243010	en	Synonym (core metadata concept)	Aicardi Goutieres syndrome type 4	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
4669242017 - Aicardi Goutieres syndrome type 4 (disorder) (en) View
4669242017	en	Fully specified name (core metadata concept)	Aicardi Goutieres syndrome type 4 (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15500203028) - 1187048006 -> 255324009 (363714003) View
363714003 \|Interprets (attribute)\|	255324009 \|Movement (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15802116026) - 1187048006 -> 116003000 (363698007) View
363698007 \|Finding site (attribute)\|	116003000 \|Structure of immune system (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15802117024) - 1187048006 -> 409774005 (116676008) View
116676008 \|Associated morphology (attribute)\|	409774005 \|Inflammatory morphology (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15802118025) - 1187048006 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14961088023) - 1187048006 -> 106018006 (116680003) View
116680003 \|Is a (attribute)\|	106018006 \|Hereditary degenerative disease of central nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15587788024) - 1187048006 -> 54115001 (363698007) View
363698007 \|Finding site (attribute)\|	54115001 \|Myelinated nerve fiber structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15587789027) - 1187048006 -> 125495003 (116676008) View
116676008 \|Associated morphology (attribute)\|	125495003 \|Myelin sheath alteration (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15587790020) - 1187048006 -> 389080008 (363698007) View
363698007 \|Finding site (attribute)\|	389080008 \|White matter structure of brain and spinal cord (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15587791024) - 1187048006 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15503337022) - 1187048006 -> 363847004 (363714003) View
363714003 \|Interprets (attribute)\|	363847004 \|Movement observable (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15503338028) - 1187048006 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14961015029) - 1187048006 -> 230312006 (116680003) View
116680003 \|Is a (attribute)\|	230312006 \|Aicardi goutieres syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14961016028) - 1187048006 -> 32610002 (363698007) View
363698007 \|Finding site (attribute)\|	32610002 \|Basal ganglion structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14961017021) - 1187048006 -> 18115005 (116676008) View
116676008 \|Associated morphology (attribute)\|	18115005 \|Pathologic calcification, calcified structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14961089026) - 1187048006 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
230312006 View
230312006	Aicardi goutieres syndrome (disorder)	Aicardi goutieres syndrome	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 (dd69e4f2-f3c2-598c-9336-c71a736a2f68) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G93.8	TRUE	ALWAYS G93.8 \| 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)\|
ExtendedMap object (f05e55d6-255e-5137-a508-616f790e6fa5) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G31.8	TRUE	ALWAYS G31.8 \| 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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