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Terminology chevron_right Concepts chevron_right 9527009

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Component

9527009

The component that hold information about this concept.

Fully Specified Name (FSN)

Tetrasomy 12p (disorder)

Shortest Term

Tetrasomy 12p

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

Tetrasomy 12p (disorder)

SCTID: 9527009, Primitive, Active

9527009|Tetrasomy 12p (disorder)|

en Isochromosome 12p syndrome
en Tetrasomy 12p syndrome
en Tetrasomy 12p syndrome (disorder)
en Pallister-killian syndrome
en Killian-teschler-nicola syndrome
en Pallister mosaic syndrome

Expression

9527009 |Tetrasomy 12p (disorder)|
 <<< 110359009 |Intellectual disability| + 
82354003 |Multiple system malformation syndrome (disorder)| + 
37535007 |Anomaly of chromosome pair 12 (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 29996004 |Tetrasomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 17897000 |Chromosome pair 12 (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 29996004 |Tetrasomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 278145009 |Short arm of chromosome (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)| = 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
4589822012 - Isochromosome 12p syndrome (en) View
4589822012	en	Synonym (core metadata concept)	Isochromosome 12p syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
16672010 - Tetrasomy 12p (en) View
16672010	en	Synonym (core metadata concept)	Tetrasomy 12p	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	False
839389011 - Tetrasomy 12p (disorder) (en) View
839389011	en	Fully specified name (core metadata concept)	Tetrasomy 12p (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	False
4589824013 - Tetrasomy 12p syndrome (en) View
4589824013	en	Synonym (core metadata concept)	Tetrasomy 12p syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4589823019 - Tetrasomy 12p syndrome (disorder) (en) View
4589823019	en	Fully specified name (core metadata concept)	Tetrasomy 12p syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3010792013 - Pallister-Killian syndrome (en) View
3010792013	en	Synonym (core metadata concept)	Pallister-Killian syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
16673017 - Killian-Teschler-Nicola syndrome (en) View
16673017	en	Synonym (core metadata concept)	Killian-Teschler-Nicola syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
16674011 - Pallister mosaic syndrome (en) View
16674011	en	Synonym (core metadata concept)	Pallister mosaic syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15094552027) - 9527009 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094553021) - 9527009 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095917021) - 9527009 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095918027) - 9527009 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5011170022) - 9527009 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13882199022) - 9527009 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13882200020) - 9527009 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13882201024) - 9527009 -> 29996004 (116676008) View
116676008 \|Associated morphology (attribute)\|	29996004 \|Tetrasomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13882202028) - 9527009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13882203022) - 9527009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13882204027) - 9527009 -> 278145009 (363698007) View
363698007 \|Finding site (attribute)\|	278145009 \|Short arm of chromosome (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13882205026) - 9527009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (928754021) - 9527009 -> 29996004 (116676008) View
116676008 \|Associated morphology (attribute)\|	29996004 \|Tetrasomy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (928756023) - 9527009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3443972028) - 9527009 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5011169021) - 9527009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5011171021) - 9527009 -> 17897000 (363698007) View
363698007 \|Finding site (attribute)\|	17897000 \|Chromosome pair 12 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3346531027) - 9527009 -> 17897000 (363698007) View
363698007 \|Finding site (attribute)\|	17897000 \|Chromosome pair 12 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (928753026) - 9527009 -> 17897000 (363698007) View
363698007 \|Finding site (attribute)\|	17897000 \|Chromosome pair 12 (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2604785021) - 9527009 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (928755022) - 9527009 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (928757025) - 9527009 -> 32247007 (363698007) View
363698007 \|Finding site (attribute)\|	32247007 \|Sex chromosome (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (306848023) - 9527009 -> 37535007 (116680003) View
116680003 \|Is a (attribute)\|	37535007 \|Anomaly of chromosome pair 12 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
110359009 View
110359009	Intellectual disability	Mental retardation	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
37535007 View
37535007	Anomaly of chromosome pair 12 (disorder)	Anomaly of chromosome pair 12	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
82354003 View
82354003	Multiple system malformation syndrome (disorder)	Multiple system malformation syndrome	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 (c5c8bf80-51d4-57de-8b45-6971547b9567) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q99.8	TRUE	ALWAYS Q99.8	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)\|

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