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Terminology chevron_right Concepts chevron_right 417604002

Production

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Component

417604002

The component that hold information about this concept.

Fully Specified Name (FSN)

Axenfeld-rieger syndrome (disorder)

Shortest Term

Axenfeld 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

Axenfeld-rieger syndrome (disorder)

SCTID: 417604002, Primitive, Active

417604002|Axenfeld-rieger syndrome (disorder)|

en Axenfeld-rieger syndrome
en Axenfeld-rieger syndrome (disorder)
en Axenfeld syndrome

Expression

417604002 |Axenfeld-rieger syndrome (disorder)|
 <<< 3705009 |Congenital anomaly of anterior chamber of eye (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 31636006 |Anterior chamber of eye structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
2549818010 - Axenfeld-Rieger syndrome (en) View
2549818010	en	Synonym (core metadata concept)	Axenfeld-Rieger syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
2547474018 - Axenfeld-Rieger syndrome (disorder) (en) View
2547474018	en	Fully specified name (core metadata concept)	Axenfeld-Rieger syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
3800347015 - Axenfeld syndrome (en) View
3800347015	en	Synonym (core metadata concept)	Axenfeld syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (2777069022) - 417604002 -> 65075004 (116680003) View
116680003 \|Is a (attribute)\|	65075004 \|Irido-corneal dysgenesis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3314242028) - 417604002 -> 31636006 (363698007) View
363698007 \|Finding site (attribute)\|	31636006 \|Anterior chamber of eye structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4984290027) - 417604002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4984291028) - 417604002 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4993274024) - 417604002 -> 31636006 (363698007) View
363698007 \|Finding site (attribute)\|	31636006 \|Anterior chamber of eye structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6151616029) - 417604002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10520890028) - 417604002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10520891029) - 417604002 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2798696027) - 417604002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3314243022) - 417604002 -> 32259006 (363698007) View
363698007 \|Finding site (attribute)\|	32259006 \|Anterior eyeball segment structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3314244027) - 417604002 -> 371519002 (116676008) View
116676008 \|Associated morphology (attribute)\|	371519002 \|Congenital developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3448449022) - 417604002 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2798697020) - 417604002 -> 31636006 (363698007) View
363698007 \|Finding site (attribute)\|	31636006 \|Anterior chamber of eye structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2798698026) - 417604002 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3197807022) - 417604002 -> 32259006 (363698007) View
363698007 \|Finding site (attribute)\|	32259006 \|Anterior eyeball segment structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3207720026) - 417604002 -> 371519002 (116676008) View
116676008 \|Associated morphology (attribute)\|	371519002 \|Congenital developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2777068025) - 417604002 -> 3705009 (116680003) View
116680003 \|Is a (attribute)\|	3705009 \|Congenital anomaly of anterior chamber of eye (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
3705009 View
3705009	Congenital anomaly of anterior chamber of eye (disorder)	Congenital anomaly of anterior chamber of eye	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
204154009 View
204154009	Irido-trabecular dysgenesis (disorder)	Rieger anomaly	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 (d0b6b150-5a2a-5a99-93f0-f1572c74d8d0) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q13.8	TRUE	ALWAYS Q13.8	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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