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Terminology chevron_right Concepts chevron_right 371045000

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Component

371045000

The component that hold information about this concept.

Fully Specified Name (FSN)

Translocation down syndrome (disorder)

Shortest Term

Translocation down 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

Translocation down syndrome (disorder)

SCTID: 371045000, Primitive, Active

371045000|Translocation down syndrome (disorder)|

en Translocation down's syndrome
en Translocation down syndrome
en Translocation down syndrome (disorder)

Expression

371045000 |Translocation down syndrome (disorder)|
 <<< 41040004 |Complete trisomy 21 syndrome (disorder)| + 
254262003 |Unbalanced translocation and insertion (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 15897004 |Chromosomal translocation (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 43009003 |Chromosome pair 21 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 78989007 |Trisomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 43009003 |Chromosome pair 21 (cell 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
1228917012 - Translocation Down's syndrome (en) View
1228917012	en	Synonym (core metadata concept)	Translocation Down's syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
1209755010 - Translocation Down syndrome (en) View
1209755010	en	Synonym (core metadata concept)	Translocation Down syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
1196341016 - Translocation Down syndrome (disorder) (en) View
1196341016	en	Fully specified name (core metadata concept)	Translocation Down syndrome (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (1702602025) - 371045000 -> 70156005 (116680003) View
116680003 \|Is a (attribute)\|	70156005 \|Anomaly of chromosome pair 21 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3778295025) - 371045000 -> 15897004 (116676008) View
116676008 \|Associated morphology (attribute)\|	15897004 \|Chromosomal translocation (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5010448020) - 371045000 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13753951020) - 371045000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13753952029) - 371045000 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13753953023) - 371045000 -> 78989007 (116676008) View
116676008 \|Associated morphology (attribute)\|	78989007 \|Trisomy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13753954028) - 371045000 -> 15897004 (116676008) View
116676008 \|Associated morphology (attribute)\|	15897004 \|Chromosomal translocation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13753955027) - 371045000 -> 41040004 (116680003) View
116680003 \|Is a (attribute)\|	41040004 \|Complete trisomy 21 syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13753990024) - 371045000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13753991023) - 371045000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (1812581020) - 371045000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3306783023) - 371045000 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5007859029) - 371045000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5010449028) - 371045000 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3306784028) - 371045000 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1812578026) - 371045000 -> 43009003 (363698007) View
363698007 \|Finding site (attribute)\|	43009003 \|Chromosome pair 21 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2636545025) - 371045000 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1812579023) - 371045000 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1812580021) - 371045000 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1702603024) - 371045000 -> 254262003 (116680003) View
116680003 \|Is a (attribute)\|	254262003 \|Unbalanced translocation and insertion (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
41040004 View
41040004	Complete trisomy 21 syndrome (disorder)	Mongolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254262003 View
254262003	Unbalanced translocation and insertion (disorder)	Unbalanced translocation and insertion	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 (8c9b7757-b66a-5ae0-b0bb-24b45647ccab) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q90.2	TRUE	ALWAYS Q90.2	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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