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Terminology chevron_right Concepts chevron_right 699310000

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Component

699310000

The component that hold information about this concept.

Fully Specified Name (FSN)

22q13.3 deletion syndrome (disorder)

Shortest Term

Monosomy 22q13

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

22q13.3 deletion syndrome (disorder)

SCTID: 699310000, Primitive, Active

699310000|22q13.3 deletion syndrome (disorder)|

en 22q13.3 deletion syndrome
en 22q13.3 deletion syndrome (disorder)
en Monosomy 22q13
en Phelan-mcdermid syndrome

Expression

699310000 |22q13.3 deletion syndrome (disorder)|
 <<< 1137472008 |Neurodevelopmental delay (disorder)| + 
19550003 |22q partial monosomy (disorder)| + 
224958001 |Global developmental delay (disorder)| + 
782964007 |Genetic disease (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 371169004 |Partial monosomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 312242007 |Long arm of chromosome (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 371169004 |Partial monosomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 79229009 |Chromosome pair 22 (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
2983765017 - 22q13.3 deletion syndrome (en) View
2983765017	en	Synonym (core metadata concept)	22q13.3 deletion syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2983770012 - 22q13.3 deletion syndrome (disorder) (en) View
2983770012	en	Fully specified name (core metadata concept)	22q13.3 deletion syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2983769011 - Monosomy 22q13 (en) View
2983769011	en	Synonym (core metadata concept)	Monosomy 22q13	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2983744011 - Phelan-McDermid syndrome (en) View
2983744011	en	Synonym (core metadata concept)	Phelan-McDermid syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16344209020) - 699310000 -> 700364009 (116680003) View
116680003 \|Is a (attribute)\|	700364009 \|Neurodevelopmental disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16407825025) - 699310000 -> 1137472008 (116680003) View
116680003 \|Is a (attribute)\|	1137472008 \|Neurodevelopmental delay (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13753738022) - 699310000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13753740028) - 699310000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13753742020) - 699310000 -> 276654001 (116680003) View
116680003 \|Is a (attribute)\|	276654001 \|Congenital malformation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16344208028) - 699310000 -> 224958001 (116680003) View
116680003 \|Is a (attribute)\|	224958001 \|Global developmental delay (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16344210026) - 699310000 -> 782964007 (116680003) View
116680003 \|Is a (attribute)\|	782964007 \|Genetic disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16344211027) - 699310000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4776387027) - 699310000 -> 70452003 (116680003) View
116680003 \|Is a (attribute)\|	70452003 \|Anomaly of chromosome pair 22 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5011393024) - 699310000 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5011394029) - 699310000 -> 79229009 (363698007) View
363698007 \|Finding site (attribute)\|	79229009 \|Chromosome pair 22 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13753736021) - 699310000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13753737028) - 699310000 -> 371169004 (116676008) View
116676008 \|Associated morphology (attribute)\|	371169004 \|Partial monosomy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13753739025) - 699310000 -> 312242007 (363698007) View
363698007 \|Finding site (attribute)\|	312242007 \|Long arm of chromosome (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13753741029) - 699310000 -> 79229009 (363698007) View
363698007 \|Finding site (attribute)\|	79229009 \|Chromosome pair 22 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13753743026) - 699310000 -> 19550003 (116680003) View
116680003 \|Is a (attribute)\|	19550003 \|22q partial monosomy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13753744021) - 699310000 -> 371169004 (116676008) View
116676008 \|Associated morphology (attribute)\|	371169004 \|Partial monosomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4776386020) - 699310000 -> 281867008 (116680003) View
116680003 \|Is a (attribute)\|	281867008 \|Multisystem disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4776388021) - 699310000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4776389029) - 699310000 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5008884029) - 699310000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	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
782964007 View
782964007	Genetic disease (disorder)	Genetic disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
19550003 View
19550003	22q partial monosomy (disorder)	22q partial monosomy	900000000000073002 \|Sufficiently defined by necessary conditions 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 (3e621d94-b1d4-5087-9e4d-79e048cc4d09) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q93.8	TRUE	ALWAYS Q93.8	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 (b500f95c-ed7c-509f-86ef-dcb456f29d24) 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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