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Terminology chevron_right Concepts chevron_right 47017007

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Component

47017007

The component that hold information about this concept.

Fully Specified Name (FSN)

Ring chromosome 1 syndrome (disorder)

Shortest Term

Ring chromosome 1 syndrome

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Ring chromosome 1 syndrome (disorder)

SCTID: 47017007, Defined, Active

47017007|Ring chromosome 1 syndrome (disorder)|

en Ring chromosome 1 syndrome
en Ring chromosome 1 syndrome (disorder)

Expression

47017007 |Ring chromosome 1 syndrome (disorder)|
 === 74769007 |Anomaly of chromosome pair 1 (disorder)| + 
1010276004 |Ring chromosome (disorder)| + 
82354003 |Multiple system malformation syndrome (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 23345003 |Ring chromosome (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 46507000 |Chromosome pair 1 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
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
78364012 - Ring chromosome 1 syndrome (en) View
78364012	en	Synonym (core metadata concept)	Ring chromosome 1 syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
784429013 - Ring chromosome 1 syndrome (disorder) (en) View
784429013	en	Fully specified name (core metadata concept)	Ring chromosome 1 syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13202513021) - 47017007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13763787021) - 47017007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16344402025) - 47017007 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16344403024) - 47017007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (790049026) - 47017007 -> 23345003 (116676008) View
116676008 \|Associated morphology (attribute)\|	23345003 \|Ring chromosome (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2672948029) - 47017007 -> 46507000 (363698007) View
363698007 \|Finding site (attribute)\|	46507000 \|Chromosome pair 1 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2977899026) - 47017007 -> 46507000 (363698007) View
363698007 \|Finding site (attribute)\|	46507000 \|Chromosome pair 1 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3533428029) - 47017007 -> 23345003 (116676008) View
116676008 \|Associated morphology (attribute)\|	23345003 \|Ring chromosome (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5009108020) - 47017007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13763788027) - 47017007 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (224638027) - 47017007 -> 268294001 (116680003) View
116680003 \|Is a (attribute)\|	268294001 \|Chromosome replaced with ring or dicentric (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5011532029) - 47017007 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5011533023) - 47017007 -> 46507000 (363698007) View
363698007 \|Finding site (attribute)\|	46507000 \|Chromosome pair 1 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13202512027) - 47017007 -> 1010276004 (116680003) View
116680003 \|Is a (attribute)\|	1010276004 \|Ring chromosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (790048023) - 47017007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3550764024) - 47017007 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2596645024) - 47017007 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3092687025) - 47017007 -> 46507000 (363698007) View
363698007 \|Finding site (attribute)\|	46507000 \|Chromosome pair 1 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3092688024) - 47017007 -> 46507000 (363698007) View
363698007 \|Finding site (attribute)\|	46507000 \|Chromosome pair 1 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2977900020) - 47017007 -> 46507000 (363698007) View
363698007 \|Finding site (attribute)\|	46507000 \|Chromosome pair 1 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2912973028) - 47017007 -> 46507000 (363698007) View
363698007 \|Finding site (attribute)\|	46507000 \|Chromosome pair 1 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2912974023) - 47017007 -> 46507000 (363698007) View
363698007 \|Finding site (attribute)\|	46507000 \|Chromosome pair 1 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2820053025) - 47017007 -> 46507000 (363698007) View
363698007 \|Finding site (attribute)\|	46507000 \|Chromosome pair 1 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2820054020) - 47017007 -> 46507000 (363698007) View
363698007 \|Finding site (attribute)\|	46507000 \|Chromosome pair 1 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2672949021) - 47017007 -> 46507000 (363698007) View
363698007 \|Finding site (attribute)\|	46507000 \|Chromosome pair 1 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (790046022) - 47017007 -> 46507000 (363698007) View
363698007 \|Finding site (attribute)\|	46507000 \|Chromosome pair 1 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2516678024) - 47017007 -> 46507000 (363698007) View
363698007 \|Finding site (attribute)\|	46507000 \|Chromosome pair 1 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (790047029) - 47017007 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (224637021) - 47017007 -> 74769007 (116680003) View
116680003 \|Is a (attribute)\|	74769007 \|Anomaly of chromosome pair 1 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1010276004 View
1010276004	Ring chromosome (disorder)	Ring chromosome	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
74769007 View
74769007	Anomaly of chromosome pair 1 (disorder)	Anomaly of chromosome pair 1	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
82354003 View
82354003	Multiple system malformation syndrome (disorder)	Multiple system malformation 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 (b4816bc5-32c3-5a6a-b1d2-d7753422c7c9) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q93.2	TRUE	ALWAYS Q93.2 \| 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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