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Terminology chevron_right Concepts chevron_right 702346005

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Component

702346005

The component that hold information about this concept.

Fully Specified Name (FSN)

Chromosome 11p11.2 deletion syndrome (disorder)

Shortest Term

Potocki-shaffer 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 11p11.2 deletion syndrome (disorder)

SCTID: 702346005, Primitive, Active

702346005|Chromosome 11p11.2 deletion syndrome (disorder)|

en P11pds - proximal 11p deletion syndrome
en Chromosome 11p11.2 deletion syndrome
en Chromosome 11p11.2 deletion syndrome (disorder)
en Potocki-shaffer syndrome
en Proximal 11p deletion syndrome

Expression

702346005 |Chromosome 11p11.2 deletion syndrome (disorder)|
 <<< 1137472008 |Neurodevelopmental delay (disorder)| + 
268276007 |Congenital exostosis (disorder)| + 
224958001 |Global developmental delay (disorder)| + 
65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| + 
1362108000 |Genetic intellectual disability (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)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 89545001 |Face structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 80400009 |External hyperostosis (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 272673000 |Bone structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (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)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 247573007 |Intellectual ability (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 406208005 |Adaptation behavior (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
2995658018 - P11pDS - proximal 11p deletion syndrome (en) View
2995658018	en	Synonym (core metadata concept)	P11pDS - proximal 11p deletion syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
2995170018 - Chromosome 11p11.2 deletion syndrome (en) View
2995170018	en	Synonym (core metadata concept)	Chromosome 11p11.2 deletion syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
2995937010 - Chromosome 11p11.2 deletion syndrome (disorder) (en) View
2995937010	en	Fully specified name (core metadata concept)	Chromosome 11p11.2 deletion syndrome (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
2995935019 - Potocki-Shaffer syndrome (en) View
2995935019	en	Synonym (core metadata concept)	Potocki-Shaffer syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
2995037013 - Proximal 11p deletion syndrome (en) View
2995037013	en	Synonym (core metadata concept)	Proximal 11p deletion syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16407826029) - 702346005 -> 1137472008 (116680003) View
116680003 \|Is a (attribute)\|	1137472008 \|Neurodevelopmental delay (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10545678024) - 702346005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12089149027) - 702346005 -> 67285006 (116676008) View
116676008 \|Associated morphology (attribute)\|	67285006 \|Deletion of short arm (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12089151028) - 702346005 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12089153025) - 702346005 -> 16312006 (363698007) View
363698007 \|Finding site (attribute)\|	16312006 \|Chromosome pair 11 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16344136028) - 702346005 -> 224958001 (116680003) View
116680003 \|Is a (attribute)\|	224958001 \|Global developmental delay (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16344137021) - 702346005 -> 65094009 (116680003) View
116680003 \|Is a (attribute)\|	65094009 \|Multiple malformation syndrome with facial defects as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16344138027) - 702346005 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16344139024) - 702346005 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16344140021) - 702346005 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16344141020) - 702346005 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16344142029) - 702346005 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16344143023) - 702346005 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16344144028) - 702346005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16344145027) - 702346005 -> 16312006 (363698007) View
363698007 \|Finding site (attribute)\|	16312006 \|Chromosome pair 11 (cell structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16344146026) - 702346005 -> 67285006 (116676008) View
116676008 \|Associated morphology (attribute)\|	67285006 \|Deletion of short arm (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16344147024) - 702346005 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4968028021) - 702346005 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4968031022) - 702346005 -> 67285006 (116676008) View
116676008 \|Associated morphology (attribute)\|	67285006 \|Deletion of short arm (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4968032026) - 702346005 -> 86277003 (116676008) View
116676008 \|Associated morphology (attribute)\|	86277003 \|Monosomy (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4975209021) - 702346005 -> 25081006 (116676008) View
116676008 \|Associated morphology (attribute)\|	25081006 \|Nephroblastoma (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4975210027) - 702346005 -> 29704000 (363698007) View
363698007 \|Finding site (attribute)\|	29704000 \|Structure of parenchyma of kidney (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4994005021) - 702346005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5013928023) - 702346005 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5013929026) - 702346005 -> 16312006 (363698007) View
363698007 \|Finding site (attribute)\|	16312006 \|Chromosome pair 11 (cell structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10545679027) - 702346005 -> 41296002 (363698007) View
363698007 \|Finding site (attribute)\|	41296002 \|Iris structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11151412021) - 702346005 -> 418560003 (116676008) View
116676008 \|Associated morphology (attribute)\|	418560003 \|Absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12089143026) - 702346005 -> 371169004 (116676008) View
116676008 \|Associated morphology (attribute)\|	371169004 \|Partial monosomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089145022) - 702346005 -> 268276007 (116680003) View
116680003 \|Is a (attribute)\|	268276007 \|Congenital exostosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089146023) - 702346005 -> 80400009 (116676008) View
116676008 \|Associated morphology (attribute)\|	80400009 \|External hyperostosis (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089147025) - 702346005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089148024) - 702346005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089150027) - 702346005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089152024) - 702346005 -> 16312006 (363698007) View
363698007 \|Finding site (attribute)\|	16312006 \|Chromosome pair 11 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089154020) - 702346005 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089155021) - 702346005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4985311021) - 702346005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4997784020) - 702346005 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4997785021) - 702346005 -> 41296002 (363698007) View
363698007 \|Finding site (attribute)\|	41296002 \|Iris structure (body structure)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10545681025) - 702346005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4968029029) - 702346005 -> 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
1137472008 View
1137472008	Neurodevelopmental delay (disorder)	Neurodevelopmental delay	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1362108000 View
1362108000	Genetic intellectual disability (disorder)	Genetic intellectual disability	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
4135001 View
4135001	11p partial monosomy syndrome (disorder)	11p partial monosomy syndrome	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
268276007 View
268276007	Congenital exostosis (disorder)	Congenital exostosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
65094009 View
65094009	Multiple malformation syndrome with facial defects as major feature (disorder)	Multiple malformation syndrome with facial defects as major feature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
224958001 View
224958001	Global developmental delay (disorder)	Global developmental delay	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 (ad77b6b6-b5b8-5902-8659-ad830b4d20ea) 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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