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Terminology chevron_right Concepts chevron_right 1228890005

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Component

1228890005

The component that hold information about this concept.

Fully Specified Name (FSN)

16p13.2 microdeletion syndrome (disorder)

Shortest Term

Monosomy 16p13.2

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

16p13.2 microdeletion syndrome (disorder)

SCTID: 1228890005, Primitive, Active

1228890005|16p13.2 microdeletion syndrome (disorder)|

en Hao fountain syndrome due to 16p13.2 microdeletion
en Hao fountain syndrome due to 16p13.2 microdeletion (disorder)
en 16p13.2 microdeletion syndrome
en Monosomy 16p13.2

Expression

1228890005 |16p13.2 microdeletion syndrome (disorder)|
 <<< 1360075006 |Hao fountain syndrome (disorder)| + 
726388008 |Deletion of part of short arm of chromosome 16 (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 371169004 |Partial monosomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 278145009 |Short 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)| = 39220001 |Chromosome pair 16 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 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)| }
        { 363713009 |Has interpretation (attribute)| = 263654008 |Abnormal (qualifier value)|,
363714003 |Interprets (attribute)| = 288547000 |Ability to perform functions related to communication (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5063629019 - 16p13.2 microdeletion syndrome (disorder) (en) View
5063629019	en	Fully specified name (core metadata concept)	16p13.2 microdeletion syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	False
5446835016 - Hao Fountain syndrome due to 16p13.2 microdeletion (en) View
5446835016	en	Synonym (core metadata concept)	Hao Fountain syndrome due to 16p13.2 microdeletion	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
5446834017 - Hao Fountain syndrome due to 16p13.2 microdeletion (disorder) (en) View
5446834017	en	Fully specified name (core metadata concept)	Hao Fountain syndrome due to 16p13.2 microdeletion (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
5063630012 - 16p13.2 microdeletion syndrome (en) View
5063630012	en	Synonym (core metadata concept)	16p13.2 microdeletion syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
5063631011 - Monosomy 16p13.2 (en) View
5063631011	en	Synonym (core metadata concept)	Monosomy 16p13.2	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15212355023) - 1228890005 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15212356024) - 1228890005 -> 248290002 (116680003) View
116680003 \|Is a (attribute)\|	248290002 \|Developmental delay (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16322173022) - 1228890005 -> 1360075006 (116680003) View
116680003 \|Is a (attribute)\|	1360075006 \|Hao fountain syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16322174027) - 1228890005 -> 288547000 (363714003) View
363714003 \|Interprets (attribute)\|	288547000 \|Ability to perform functions related to communication (observable entity)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16322175026) - 1228890005 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15281593020) - 1228890005 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15281594025) - 1228890005 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15281595029) - 1228890005 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15281596028) - 1228890005 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15212357026) - 1228890005 -> 726388008 (116680003) View
116680003 \|Is a (attribute)\|	726388008 \|Deletion of part of short arm of chromosome 16 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15212358020) - 1228890005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15212359028) - 1228890005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15212360022) - 1228890005 -> 278145009 (363698007) View
363698007 \|Finding site (attribute)\|	278145009 \|Short arm of chromosome (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15212361021) - 1228890005 -> 371169004 (116676008) View
116676008 \|Associated morphology (attribute)\|	371169004 \|Partial monosomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15212362025) - 1228890005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15212363024) - 1228890005 -> 39220001 (363698007) View
363698007 \|Finding site (attribute)\|	39220001 \|Chromosome pair 16 (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15212364029) - 1228890005 -> 371169004 (116676008) View
116676008 \|Associated morphology (attribute)\|	371169004 \|Partial monosomy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1360075006 View
1360075006	Hao fountain syndrome (disorder)	Hao fountain syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
726388008 View
726388008	Deletion of part of short arm of chromosome 16 (disorder)	Deletion of part of short arm of chromosome 16	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 (10597862-77bf-5d5e-9965-481b1aa0e91f) 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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