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Terminology chevron_right Concepts chevron_right 47507006

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Component

47507006

The component that hold information about this concept.

Fully Specified Name (FSN)

Rieger syndrome (disorder)

Shortest Term

Rieger anomaly

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

Rieger syndrome (disorder)

SCTID: 47507006, Primitive, Active

47507006|Rieger syndrome (disorder)|

en Rieger anomaly
en Rieger's syndrome
en Rieger syndrome (disorder)
en Rieger syndrome

Expression

47507006 |Rieger syndrome (disorder)|
 <<< 3705009 |Congenital anomaly of anterior chamber of eye (disorder)| + 
11164009 |Autosomal dominant hereditary disorder (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
363343008 |Hereditary disorder of the visual system (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
4592201011 - Rieger anomaly (en) View
4592201011	en	Synonym (core metadata concept)	Rieger anomaly	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
2620798016 - Rieger's syndrome (en) View
2620798016	en	Synonym (core metadata concept)	Rieger's syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
784973019 - Rieger syndrome (disorder) (en) View
784973019	en	Fully specified name (core metadata concept)	Rieger syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
79197010 - Rieger syndrome (en) View
79197010	en	Synonym (core metadata concept)	Rieger syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (225417021) - 47507006 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13898451022) - 47507006 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13898452026) - 47507006 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13898453020) - 47507006 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (791357025) - 47507006 -> 31636006 (363698007) View
363698007 \|Finding site (attribute)\|	31636006 \|Anterior chamber of eye structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4984469022) - 47507006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4984470023) - 47507006 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4993407029) - 47507006 -> 31636006 (363698007) View
363698007 \|Finding site (attribute)\|	31636006 \|Anterior chamber of eye structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6076858027) - 47507006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10534006027) - 47507006 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10534007020) - 47507006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (791353026) - 47507006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3408463029) - 47507006 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3408464024) - 47507006 -> 31636006 (363698007) View
363698007 \|Finding site (attribute)\|	31636006 \|Anterior chamber of eye structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2267401024) - 47507006 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (520221022) - 47507006 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (791356023) - 47507006 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (225418027) - 47507006 -> 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
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
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
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	900000000000074008 \|Necessary but not sufficient concept 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 (5b968397-9e7a-566f-af1b-5de5892d24ed) 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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