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Terminology chevron_right Concepts chevron_right 230312006

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Component

230312006

The component that hold information about this concept.

Fully Specified Name (FSN)

Aicardi goutieres syndrome (disorder)

Shortest Term

Aicardi goutieres syndrome

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 (disorder)

SCTID: 230312006, Primitive, Active

230312006|Aicardi goutieres syndrome (disorder)|

en Aicardi goutieres syndrome (disorder)
en Aicardi goutieres syndrome

Expression

230312006 |Aicardi goutieres syndrome (disorder)|
 <<< 1295193002 |Type i interferon-associated autoinflammatory disease (disorder)| + 
363138005 |Hereditary disorder of immune system (disorder)| + 
192781003 |Leukodystrophy (disorder)| + 
230311004 |Basal ganglia degeneration with calcification (disorder)| + 
106018006 |Hereditary degenerative disease of central nervous system (disorder)| + 
1899006 |Autosomal 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)| = 4720007 |Dystrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 389080008 |White matter structure of brain and spinal cord (body structure)| }
        { 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)| = 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
618101019 - Aicardi Goutieres syndrome (disorder) (en) View
618101019	en	Fully specified name (core metadata concept)	Aicardi Goutieres syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
345138018 - Aicardi Goutieres syndrome (en) View
345138018	en	Synonym (core metadata concept)	Aicardi Goutieres syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15500195023) - 230312006 -> 255324009 (363714003) View
363714003 \|Interprets (attribute)\|	255324009 \|Movement (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15802122024) - 230312006 -> 1295193002 (116680003) View
116680003 \|Is a (attribute)\|	1295193002 \|Type i interferon-associated autoinflammatory disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15802123025) - 230312006 -> 363138005 (116680003) View
116680003 \|Is a (attribute)\|	363138005 \|Hereditary disorder of immune system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15802124020) - 230312006 -> 116003000 (363698007) View
363698007 \|Finding site (attribute)\|	116003000 \|Structure of immune system (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15802125021) - 230312006 -> 409774005 (116676008) View
116676008 \|Associated morphology (attribute)\|	409774005 \|Inflammatory morphology (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15802126022) - 230312006 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15587771028) - 230312006 -> 192781003 (116680003) View
116680003 \|Is a (attribute)\|	192781003 \|Leukodystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15587772024) - 230312006 -> 389080008 (363698007) View
363698007 \|Finding site (attribute)\|	389080008 \|White matter structure of brain and spinal cord (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15587773025) - 230312006 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15587774020) - 230312006 -> 54115001 (363698007) View
363698007 \|Finding site (attribute)\|	54115001 \|Myelinated nerve fiber structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15587775021) - 230312006 -> 125495003 (116676008) View
116676008 \|Associated morphology (attribute)\|	125495003 \|Myelin sheath alteration (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15588260026) - 230312006 -> 106018006 (116680003) View
116680003 \|Is a (attribute)\|	106018006 \|Hereditary degenerative disease of central nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15588261027) - 230312006 -> 1899006 (116680003) View
116680003 \|Is a (attribute)\|	1899006 \|Autosomal hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15503327028) - 230312006 -> 363847004 (363714003) View
363714003 \|Interprets (attribute)\|	363847004 \|Movement observable (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15503328022) - 230312006 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12065495029) - 230312006 -> 18115005 (116676008) View
116676008 \|Associated morphology (attribute)\|	18115005 \|Pathologic calcification, calcified structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (490820026) - 230312006 -> 32610002 (363698007) View
363698007 \|Finding site (attribute)\|	32610002 \|Basal ganglion structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (40674024) - 230312006 -> 230311004 (116680003) View
116680003 \|Is a (attribute)\|	230311004 \|Basal ganglia degeneration with calcification (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1295193002 View
1295193002	Type i interferon-associated autoinflammatory disease (disorder)	Type 1 interferonopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
106018006 View
106018006	Hereditary degenerative disease of central nervous system (disorder)	Hereditary degenerative disease of central nervous system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1899006 View
1899006	Autosomal hereditary disorder (disorder)	Autosomal hereditary disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
192781003 View
192781003	Leukodystrophy (disorder)	Leucodystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
230311004 View
230311004	Basal ganglia degeneration with calcification (disorder)	Basal ganglia degeneration with calcification	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363138005 View
363138005	Hereditary disorder of immune system (disorder)	Hereditary disorder of immune system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1187045009 View
1187045009	Aicardi goutieres syndrome type 1 (disorder)	Aicardi goutieres syndrome type 1	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1187046005 View
1187046005	Aicardi goutieres syndrome type 2 (disorder)	Aicardi goutieres syndrome type 2	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1187047001 View
1187047001	Aicardi goutieres syndrome type 3 (disorder)	Aicardi goutieres syndrome type 3	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1187048006 View
1187048006	Aicardi goutieres syndrome type 4 (disorder)	Aicardi goutieres syndrome type 4	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1187049003 View
1187049003	Aicardi goutieres syndrome type 5 (disorder)	Aicardi goutieres syndrome type 5	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 (3588cf65-9944-53f6-9783-e6c8e4d6db8b) 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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