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Terminology chevron_right Concepts chevron_right 1229882003

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Component

1229882003

The component that hold information about this concept.

Fully Specified Name (FSN)

11q22.2q22.3 microdeletion syndrome (disorder)

Shortest Term

Monosomy 11q22.2q22.3

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

11q22.2q22.3 microdeletion syndrome (disorder)

SCTID: 1229882003, Primitive, Active

1229882003|11q22.2q22.3 microdeletion syndrome (disorder)|

en 11q22.2q22.3 microdeletion syndrome
en 11q22.2q22.3 microdeletion syndrome (disorder)
en Monosomy 11q22.2q22.3

Expression

1229882003 |11q22.2q22.3 microdeletion syndrome (disorder)|
 <<< 110359009 |Intellectual disability| + 
237836003 |Short stature disorder (disorder)| + 
4325000 |11q partial monosomy syndrome (disorder)| + 
65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| + 
1137472008 |Neurodevelopmental delay (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)| = 64329008 |Deletion of long arm (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 16312006 |Chromosome pair 11 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 50373000 |Body height measure (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 406208005 |Adaptation behavior (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 247573007 |Intellectual ability (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5065610010 - 11q22.2q22.3 microdeletion syndrome (en) View
5065610010	en	Synonym (core metadata concept)	11q22.2q22.3 microdeletion syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5065611014 - 11q22.2q22.3 microdeletion syndrome (disorder) (en) View
5065611014	en	Fully specified name (core metadata concept)	11q22.2q22.3 microdeletion syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5065612019 - Monosomy 11q22.2q22.3 (en) View
5065612019	en	Synonym (core metadata concept)	Monosomy 11q22.2q22.3	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15219205025) - 1229882003 -> 248290002 (116680003) View
116680003 \|Is a (attribute)\|	248290002 \|Developmental delay (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16407898020) - 1229882003 -> 1137472008 (116680003) View
116680003 \|Is a (attribute)\|	1137472008 \|Neurodevelopmental delay (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15281609023) - 1229882003 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15281610029) - 1229882003 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15281611025) - 1229882003 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15281612021) - 1229882003 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15219203021) - 1229882003 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15219204026) - 1229882003 -> 237836003 (116680003) View
116680003 \|Is a (attribute)\|	237836003 \|Short stature disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15219206029) - 1229882003 -> 4325000 (116680003) View
116680003 \|Is a (attribute)\|	4325000 \|11q partial monosomy syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15219207022) - 1229882003 -> 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 (15219208028) - 1229882003 -> 50373000 (363714003) View
363714003 \|Interprets (attribute)\|	50373000 \|Body height measure (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15219209020) - 1229882003 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15219210026) - 1229882003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15219211027) - 1229882003 -> 16312006 (363698007) View
363698007 \|Finding site (attribute)\|	16312006 \|Chromosome pair 11 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15219212023) - 1229882003 -> 371169004 (116676008) View
116676008 \|Associated morphology (attribute)\|	371169004 \|Partial monosomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15219213029) - 1229882003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15219214024) - 1229882003 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15219215020) - 1229882003 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15219216021) - 1229882003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15219217028) - 1229882003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15219218022) - 1229882003 -> 16312006 (363698007) View
363698007 \|Finding site (attribute)\|	16312006 \|Chromosome pair 11 (cell structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15219219025) - 1229882003 -> 64329008 (116676008) View
116676008 \|Associated morphology (attribute)\|	64329008 \|Deletion of long arm (morphologic abnormality)\|	3	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
110359009 View
110359009	Intellectual disability	Mental retardation	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
4325000 View
4325000	11q partial monosomy syndrome (disorder)	11q partial monosomy syndrome	900000000000074008 \|Necessary but not sufficient concept 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
237836003 View
237836003	Short stature disorder (disorder)	Dwarf	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 (f5b95088-6251-580b-ab1e-6bfd803e560a) 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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