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Terminology chevron_right Concepts chevron_right 764452004

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Component

764452004

The component that hold information about this concept.

Fully Specified Name (FSN)

Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (disorder)

Shortest Term

Familial retinal arterial macroaneurysm

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

Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (disorder)

SCTID: 764452004, Primitive, Active

764452004|Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (disorder)|

en Familial retinal arterial macroaneurysm
en Fram - familial retinal arterial macroaneurysm
en Ramsvps - retinal arterial macroaneurysm with supravalvular pulmonic stenosis
en Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
en Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (disorder)

Expression

764452004 |Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (disorder)|
 <<< 52757001 |Congenital supravalvular pulmonary stenosis (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
111941005 |Familial disease (disorder)| + 
247124009 |Retinal macroaneurysm (disorder)| + 
363005004 |Cardiovascular system hereditary disorder (disorder)| + 
363343008 |Hereditary disorder of the visual system (disorder)| + 
943003 |Congenital retinal aneurysm (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 415582006 |Stenosis (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 79142001 |Suprapulmonic valve area structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 85659009 |Aneurysm (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 27988004 |Structure of retinal artery (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 784180002 |Macroaneurysm (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 27988004 |Structure of retinal artery (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3649889014 - Familial retinal arterial macroaneurysm (en) View
3649889014	en	Synonym (core metadata concept)	Familial retinal arterial macroaneurysm	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3649886019 - FRAM - familial retinal arterial macroaneurysm (en) View
3649886019	en	Synonym (core metadata concept)	FRAM - familial retinal arterial macroaneurysm	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3649888018 - RAMSVPS - retinal arterial macroaneurysm with supravalvular pulmonic stenosis (en) View
3649888018	en	Synonym (core metadata concept)	RAMSVPS - retinal arterial macroaneurysm with supravalvular pulmonic stenosis	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3649887011 - Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (en) View
3649887011	en	Synonym (core metadata concept)	Retinal arterial macroaneurysm with supravalvular pulmonic stenosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3649890017 - Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (disorder) (en) View
3649890017	en	Fully specified name (core metadata concept)	Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (11401551022) - 764452004 -> 449125001 (116680003) View
116680003 \|Is a (attribute)\|	449125001 \|Congenital stenosis of pulmonary artery (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11401555029) - 764452004 -> 448472004 (116680003) View
116680003 \|Is a (attribute)\|	448472004 \|Congenital abnormality of pulmonary trunk (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13069926020) - 764452004 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9182149027) - 764452004 -> 448016001 (116680003) View
116680003 \|Is a (attribute)\|	448016001 \|Congenital aneurysm of systemic artery (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11401550023) - 764452004 -> 49381001 (116680003) View
116680003 \|Is a (attribute)\|	49381001 \|Congenital anomaly of retina (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11401552026) - 764452004 -> 2818004 (116680003) View
116680003 \|Is a (attribute)\|	2818004 \|Congenital vascular anomaly of eye (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12095125020) - 764452004 -> 943003 (116680003) View
116680003 \|Is a (attribute)\|	943003 \|Congenital retinal aneurysm (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9182146023) - 764452004 -> 268190004 (116680003) View
116680003 \|Is a (attribute)\|	268190004 \|Congenital peripheral aneurysm (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9182152024) - 764452004 -> 27988004 (363698007) View
363698007 \|Finding site (attribute)\|	27988004 \|Structure of retinal artery (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11344173024) - 764452004 -> 784180002 (116676008) View
116676008 \|Associated morphology (attribute)\|	784180002 \|Macroaneurysm (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11401553020) - 764452004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11401554025) - 764452004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9182142020) - 764452004 -> 52757001 (116680003) View
116680003 \|Is a (attribute)\|	52757001 \|Congenital supravalvular pulmonary stenosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9182143026) - 764452004 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9182144021) - 764452004 -> 111941005 (116680003) View
116680003 \|Is a (attribute)\|	111941005 \|Familial disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9182145022) - 764452004 -> 247124009 (116680003) View
116680003 \|Is a (attribute)\|	247124009 \|Retinal macroaneurysm (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9182147025) - 764452004 -> 363005004 (116680003) View
116680003 \|Is a (attribute)\|	363005004 \|Cardiovascular system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9182148024) - 764452004 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224356020) - 764452004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224357027) - 764452004 -> 85659009 (116676008) View
116676008 \|Associated morphology (attribute)\|	85659009 \|Aneurysm (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224358021) - 764452004 -> 27988004 (363698007) View
363698007 \|Finding site (attribute)\|	27988004 \|Structure of retinal artery (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224359029) - 764452004 -> 79142001 (363698007) View
363698007 \|Finding site (attribute)\|	79142001 \|Suprapulmonic valve area structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224360023) - 764452004 -> 415582006 (116676008) View
116676008 \|Associated morphology (attribute)\|	415582006 \|Stenosis (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224361022) - 764452004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
247124009 View
247124009	Retinal macroaneurysm (disorder)	Retinal macroaneurysm	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
52757001 View
52757001	Congenital supravalvular pulmonary stenosis (disorder)	Congenital supravalvular pulmonary stenosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
943003 View
943003	Congenital retinal aneurysm (disorder)	Congenital retinal aneurysm	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
111941005 View
111941005	Familial disease (disorder)	Familial disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363005004 View
363005004	Cardiovascular system hereditary disorder (disorder)	Cardiovascular system hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363343008 View
363343008	Hereditary disorder of the visual system (disorder)	Hereditary disorder of the visual system	900000000000073002 \|Sufficiently defined by necessary conditions 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 (4d9a1020-648e-5981-b2dc-76c989ae7696) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q14.1	TRUE	ALWAYS Q14.1	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 (f4d97e79-d556-578a-a7d0-c533449000b3) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q25.6	TRUE	ALWAYS Q25.6	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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