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Terminology chevron_right Concepts chevron_right 723332005

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Component

723332005

The component that hold information about this concept.

Fully Specified Name (FSN)

Isodicentric chromosome 15 syndrome (disorder)

Shortest Term

Inverted duplication 15

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

Isodicentric chromosome 15 syndrome (disorder)

SCTID: 723332005, Primitive, Active

723332005|Isodicentric chromosome 15 syndrome (disorder)|

en Duplication/inversion 15q11
en Inverted duplication 15
en Isodicentric 15 chromosome
en Isodicentric chromosome 15 syndrome
en Isodicentric chromosome 15 syndrome (disorder)
en Non-distal tetrasomy 15q

Expression

723332005 |Isodicentric chromosome 15 syndrome (disorder)|
 <<< 110359009 |Intellectual disability| + 
276654001 |Congenital malformation (disorder)| + 
16569009 |Anomaly of chromosome pair 15 (disorder)| + 
35919005 |Pervasive developmental disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 29996004 |Tetrasomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 71678009 |Chromosome pair 15 (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
3424114010 - Duplication/inversion 15q11 (en) View
3424114010	en	Synonym (core metadata concept)	Duplication/inversion 15q11	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3424116012 - Inverted duplication 15 (en) View
3424116012	en	Synonym (core metadata concept)	Inverted duplication 15	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3424115011 - Isodicentric 15 chromosome (en) View
3424115011	en	Synonym (core metadata concept)	Isodicentric 15 chromosome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3424113016 - Isodicentric chromosome 15 syndrome (en) View
3424113016	en	Synonym (core metadata concept)	Isodicentric chromosome 15 syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3424112014 - Isodicentric chromosome 15 syndrome (disorder) (en) View
3424112014	en	Fully specified name (core metadata concept)	Isodicentric chromosome 15 syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3424117015 - Non-distal tetrasomy 15q (en) View
3424117015	en	Synonym (core metadata concept)	Non-distal tetrasomy 15q	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15095099023) - 723332005 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095100026) - 723332005 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096463029) - 723332005 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096464024) - 723332005 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6811801021) - 723332005 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11575386026) - 723332005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13881444024) - 723332005 -> 276654001 (116680003) View
116680003 \|Is a (attribute)\|	276654001 \|Congenital malformation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13881445020) - 723332005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13881982023) - 723332005 -> 29996004 (116676008) View
116676008 \|Associated morphology (attribute)\|	29996004 \|Tetrasomy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6811800022) - 723332005 -> 91138005 (116680003) View
116680003 \|Is a (attribute)\|	91138005 \|Mental retardation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9127952021) - 723332005 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6811798026) - 723332005 -> 16569009 (116680003) View
116680003 \|Is a (attribute)\|	16569009 \|Anomaly of chromosome pair 15 (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6811799023) - 723332005 -> 35919005 (116680003) View
116680003 \|Is a (attribute)\|	35919005 \|Pervasive developmental disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6811802025) - 723332005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6811803024) - 723332005 -> 71678009 (363698007) View
363698007 \|Finding site (attribute)\|	71678009 \|Chromosome pair 15 (cell structure)\|	1	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
16569009 View
16569009	Anomaly of chromosome pair 15 (disorder)	Anomaly of chromosome pair 15	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
276654001 View
276654001	Congenital malformation (disorder)	Dị tật bẩm sinh	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
35919005 View
35919005	Pervasive developmental disorder (disorder)	Autism	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 (f8d3e22b-5381-583f-8a0b-b3a4cb4bf286) 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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