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Terminology chevron_right Concepts chevron_right 715215007

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Component

715215007

The component that hold information about this concept.

Fully Specified Name (FSN)

Chromosome 11p13 deletion syndrome (disorder)

Shortest Term

Wagr 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

Chromosome 11p13 deletion syndrome (disorder)

SCTID: 715215007, Primitive, Active

715215007|Chromosome 11p13 deletion syndrome (disorder)|

en Chromosome 11p13 deletion syndrome
en Chromosome 11p13 deletion syndrome (disorder)
en Wagr syndrome
en Wagr (wilms tumor, aniridia, genitourinary anomalies and mental retardation) syndrome
en Wagr (wilms tumour, aniridia, genitourinary anomalies and mental retardation) syndrome
en Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome
en Wilms tumour, aniridia, genitourinary anomalies and mental retardation syndrome

Expression

715215007 |Chromosome 11p13 deletion syndrome (disorder)|
 <<< 4135001 |11p partial monosomy syndrome (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 371169004 |Partial monosomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 16312006 |Chromosome pair 11 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 67285006 |Deletion of short arm (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 16312006 |Chromosome pair 11 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3301887017 - Chromosome 11p13 deletion syndrome (en) View
3301887017	en	Synonym (core metadata concept)	Chromosome 11p13 deletion syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3301886014 - Chromosome 11p13 deletion syndrome (disorder) (en) View
3301886014	en	Fully specified name (core metadata concept)	Chromosome 11p13 deletion syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3301890011 - WAGR syndrome (en) View
3301890011	en	Synonym (core metadata concept)	WAGR syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
3301889019 - WAGR (Wilms tumor, aniridia, genitourinary anomalies and mental retardation) syndrome (en) View
3301889019	en	Synonym (core metadata concept)	WAGR (Wilms tumor, aniridia, genitourinary anomalies and mental retardation) syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3301891010 - WAGR (Wilms tumour, aniridia, genitourinary anomalies and mental retardation) syndrome (en) View
3301891010	en	Synonym (core metadata concept)	WAGR (Wilms tumour, aniridia, genitourinary anomalies and mental retardation) syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3301888010 - Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome (en) View
3301888010	en	Synonym (core metadata concept)	Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3301892015 - Wilms tumour, aniridia, genitourinary anomalies and mental retardation syndrome (en) View
3301892015	en	Synonym (core metadata concept)	Wilms tumour, aniridia, genitourinary anomalies and mental retardation syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6546951021) - 715215007 -> 86277003 (116676008) View
116676008 \|Associated morphology (attribute)\|	86277003 \|Monosomy (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6546953024) - 715215007 -> 25081006 (116676008) View
116676008 \|Associated morphology (attribute)\|	25081006 \|Nephroblastoma (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6546954029) - 715215007 -> 29704000 (363698007) View
363698007 \|Finding site (attribute)\|	29704000 \|Structure of parenchyma of kidney (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6546958026) - 715215007 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6546959023) - 715215007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6546960029) - 715215007 -> 16312006 (363698007) View
363698007 \|Finding site (attribute)\|	16312006 \|Chromosome pair 11 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10546267026) - 715215007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10546270027) - 715215007 -> 41296002 (363698007) View
363698007 \|Finding site (attribute)\|	41296002 \|Iris structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11151582026) - 715215007 -> 418560003 (116676008) View
116676008 \|Associated morphology (attribute)\|	418560003 \|Absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12131980020) - 715215007 -> 371169004 (116676008) View
116676008 \|Associated morphology (attribute)\|	371169004 \|Partial monosomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12131981024) - 715215007 -> 16312006 (363698007) View
363698007 \|Finding site (attribute)\|	16312006 \|Chromosome pair 11 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12131982028) - 715215007 -> 16312006 (363698007) View
363698007 \|Finding site (attribute)\|	16312006 \|Chromosome pair 11 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12131983022) - 715215007 -> 67285006 (116676008) View
116676008 \|Associated morphology (attribute)\|	67285006 \|Deletion of short arm (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12131984027) - 715215007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6546955028) - 715215007 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6546956027) - 715215007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6546957020) - 715215007 -> 41296002 (363698007) View
363698007 \|Finding site (attribute)\|	41296002 \|Iris structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10546268020) - 715215007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6546952025) - 715215007 -> 4135001 (116680003) View
116680003 \|Is a (attribute)\|	4135001 \|11p partial monosomy syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
4135001 View
4135001	11p partial monosomy syndrome (disorder)	11p partial monosomy syndrome	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 (d475fb6c-48a5-5f55-ac73-7477e941da48) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q93.5	TRUE	ALWAYS Q93.5	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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