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Terminology chevron_right Concepts chevron_right 4135001

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Component

4135001

The component that hold information about this concept.

Fully Specified Name (FSN)

11p partial monosomy syndrome (disorder)

Shortest Term

11p partial monosomy 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

11p partial monosomy syndrome (disorder)

SCTID: 4135001, Defined, Active

4135001|11p partial monosomy syndrome (disorder)|

en 11p partial monosomy syndrome
en 11p partial monosomy syndrome (disorder)

Expression

4135001 |11p partial monosomy syndrome (disorder)|
 === 726381002 |Deletion of part of chromosome 11 (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
8381017 - Aniridia-Wilms tumor association (en) View
8381017	en	Synonym (core metadata concept)	Aniridia-Wilms tumor association	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
492968017 - Aniridia-Wilms tumour association (en) View
492968017	en	Synonym (core metadata concept)	Aniridia-Wilms tumour association	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
8380016 - 11p partial monosomy syndrome (en) View
8380016	en	Synonym (core metadata concept)	11p partial monosomy syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
778129019 - 11p partial monosomy syndrome (disorder) (en) View
778129019	en	Fully specified name (core metadata concept)	11p partial monosomy syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (215486021) - 4135001 -> 60891003 (116680003) View
116680003 \|Is a (attribute)\|	60891003 \|Anomaly of chromosome pair 11 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (215487028) - 4135001 -> 69278003 (116680003) View
116680003 \|Is a (attribute)\|	69278003 \|Congenital aniridia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (215489025) - 4135001 -> 302849000 (116680003) View
116680003 \|Is a (attribute)\|	302849000 \|Nephroblastoma (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3211546029) - 4135001 -> 16312006 (363698007) View
363698007 \|Finding site (attribute)\|	16312006 \|Chromosome pair 11 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3520247022) - 4135001 -> 86277003 (116676008) View
116676008 \|Associated morphology (attribute)\|	86277003 \|Monosomy (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3520248028) - 4135001 -> 29704000 (363698007) View
363698007 \|Finding site (attribute)\|	29704000 \|Structure of parenchyma of kidney (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3520249020) - 4135001 -> 25081006 (116676008) View
116676008 \|Associated morphology (attribute)\|	25081006 \|Nephroblastoma (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3520251024) - 4135001 -> 41296002 (363698007) View
363698007 \|Finding site (attribute)\|	41296002 \|Iris structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4799128020) - 4135001 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5006312024) - 4135001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5011461026) - 4135001 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5011462022) - 4135001 -> 16312006 (363698007) View
363698007 \|Finding site (attribute)\|	16312006 \|Chromosome pair 11 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10517120023) - 4135001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11151285028) - 4135001 -> 418560003 (116676008) View
116676008 \|Associated morphology (attribute)\|	418560003 \|Absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12131975027) - 4135001 -> 726381002 (116680003) View
116680003 \|Is a (attribute)\|	726381002 \|Deletion of part of chromosome 11 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12131976026) - 4135001 -> 371169004 (116676008) View
116676008 \|Associated morphology (attribute)\|	371169004 \|Partial monosomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12131977024) - 4135001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12131978025) - 4135001 -> 16312006 (363698007) View
363698007 \|Finding site (attribute)\|	16312006 \|Chromosome pair 11 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12131979022) - 4135001 -> 67285006 (116676008) View
116676008 \|Associated morphology (attribute)\|	67285006 \|Deletion of short arm (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4984490025) - 4135001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4997560026) - 4135001 -> 41296002 (363698007) View
363698007 \|Finding site (attribute)\|	41296002 \|Iris structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5038589025) - 4135001 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10517119028) - 4135001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (775359025) - 4135001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3520250020) - 4135001 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (513224027) - 4135001 -> 41296002 (363698007) View
363698007 \|Finding site (attribute)\|	41296002 \|Iris structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (775354024) - 4135001 -> 86277003 (116676008) View
116676008 \|Associated morphology (attribute)\|	86277003 \|Monosomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (775356021) - 4135001 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (775357028) - 4135001 -> 25081006 (116676008) View
116676008 \|Associated morphology (attribute)\|	25081006 \|Nephroblastoma (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (775362027) - 4135001 -> 16312006 (363698007) View
363698007 \|Finding site (attribute)\|	16312006 \|Chromosome pair 11 (cell structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1766555021) - 4135001 -> 29704000 (363698007) View
363698007 \|Finding site (attribute)\|	29704000 \|Structure of parenchyma of kidney (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2595742022) - 4135001 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (775353029) - 4135001 -> 67285006 (116676008) View
116676008 \|Associated morphology (attribute)\|	67285006 \|Deletion of short arm (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2691889020) - 4135001 -> 94092006 (116680003) View
116680003 \|Is a (attribute)\|	94092006 \|Primary malignant neoplasm of retroperitoneum (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (775358022) - 4135001 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2029361027) - 4135001 -> 272647005 (363698007) View
363698007 \|Finding site (attribute)\|	272647005 \|Iridial and/or ciliary structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (775360024) - 4135001 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (775361023) - 4135001 -> 64033007 (363698007) View
363698007 \|Finding site (attribute)\|	64033007 \|Kidney structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1674851021) - 4135001 -> 255056009 (116680003) View
116680003 \|Is a (attribute)\|	255056009 \|Malignant neoplasm of head and/or neck (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1674852025) - 4135001 -> 371481006 (116680003) View
116680003 \|Is a (attribute)\|	371481006 \|Neoplasm of eye region (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (215488022) - 4135001 -> 78626001 (116680003) View
116680003 \|Is a (attribute)\|	78626001 \|Congenital anomaly of trunk (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (215490023) - 4135001 -> 231964001 (116680003) View
116680003 \|Is a (attribute)\|	231964001 \|Neoplasm of iris (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (775355020) - 4135001 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (775365025) - 4135001 -> 367636007 (308489006) View
308489006 \|Pathological process (qualifier value)\|	367636007 \|Malignant neoplastic process (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (775366029) - 4135001 -> 272647005 (363698007) View
363698007 \|Finding site (attribute)\|	272647005 \|Iridial and/or ciliary structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
726381002 View
726381002	Deletion of part of chromosome 11 (disorder)	Deletion of part of chromosome 11	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
880078001 View
880078001	11p15 deletion syndrome (disorder)	11p15 deletion syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715215007 View
715215007	Chromosome 11p13 deletion syndrome (disorder)	Wagr syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
702346005 View
702346005	Chromosome 11p11.2 deletion syndrome (disorder)	Potocki-shaffer syndrome	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 (03916296-1c73-5786-83fe-d3d16a42c12d) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	OTHERWISE TRUE	ALWAYS Q87.8	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)\|
ExtendedMap object (1f0d8954-e4bf-5f7c-bca4-0b4dc538287a) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q93.5	IFA 702346005 \| Chromosome 11p11.2 deletion syndrome (disorder) \|	IF CHROMOSOME 11P11.2 DELETION SYNDROME CHOOSE Q93.5 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|
ExtendedMap object (5f55b720-4884-51bf-8273-6082f5262849) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	TRUE	ALWAYS Q87.8	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)\|
ExtendedMap object (d866b638-0b9d-5c09-b596-f5663cb6d135) 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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