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Terminology chevron_right Concepts chevron_right 204042007

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Component

204042007

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital malformation of corpus callosum (disorder)

Shortest Term

Dysgenesis of corpus callosum

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Congenital malformation of corpus callosum (disorder)

SCTID: 204042007, Defined, Active

204042007|Congenital malformation of corpus callosum (disorder)|

en Congenital anomaly of corpus callosum
en Congenital malformation of corpus callosum
en Congenital malformation of corpus callosum (disorder)
en Dysgenesis of corpus callosum

Expression

204042007 |Congenital malformation of corpus callosum (disorder)|
 === 22811006 |Leukoencephalopathy (disorder)| + 
702628006 |Congenital anomaly of cerebrum (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 88442005 |Corpus callosum structure (body 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
3006537015 - Congenital anomaly of corpus callosum (en) View
3006537015	en	Synonym (core metadata concept)	Congenital anomaly of corpus callosum	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
312893010 - Congenital malformation of corpus callosum (en) View
312893010	en	Synonym (core metadata concept)	Congenital malformation of corpus callosum	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
589215014 - Congenital malformation of corpus callosum (disorder) (en) View
589215014	en	Fully specified name (core metadata concept)	Congenital malformation of corpus callosum (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3036180019 - Dysgenesis of corpus callosum (en) View
3036180019	en	Synonym (core metadata concept)	Dysgenesis of corpus callosum	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (5020035027) - 204042007 -> 204039001 (116680003) View
116680003 \|Is a (attribute)\|	204039001 \|Anomalies of cerebrum (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11354991022) - 204042007 -> 702628006 (116680003) View
116680003 \|Is a (attribute)\|	702628006 \|Congenital anomaly of cerebrum (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (468476024) - 204042007 -> 88442005 (363698007) View
363698007 \|Finding site (attribute)\|	88442005 \|Corpus callosum structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4978851021) - 204042007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4978852025) - 204042007 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5020036026) - 204042007 -> 88442005 (363698007) View
363698007 \|Finding site (attribute)\|	88442005 \|Corpus callosum structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6109065026) - 204042007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9619092020) - 204042007 -> 22811006 (116680003) View
116680003 \|Is a (attribute)\|	22811006 \|Leukoencephalopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10529464028) - 204042007 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10529465027) - 204042007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (23208023) - 204042007 -> 57148006 (116680003) View
116680003 \|Is a (attribute)\|	57148006 \|Congenital anomaly of brain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (468471025) - 204042007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3324279029) - 204042007 -> 88442005 (363698007) View
363698007 \|Finding site (attribute)\|	88442005 \|Corpus callosum structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3775266024) - 204042007 -> 276654001 (116680003) View
116680003 \|Is a (attribute)\|	276654001 \|Congenital malformation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3799329027) - 204042007 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3788419025) - 204042007 -> 88442005 (363698007) View
363698007 \|Finding site (attribute)\|	88442005 \|Corpus callosum structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3789577025) - 204042007 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3324278021) - 204042007 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (468473027) - 204042007 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (468472021) - 204042007 -> 21483005 (363698007) View
363698007 \|Finding site (attribute)\|	21483005 \|Structure of central nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (468475023) - 204042007 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (468474022) - 204042007 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
22811006 View
22811006	Leukoencephalopathy (disorder)	Leucoencephalopathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
702628006 View
702628006	Congenital anomaly of cerebrum (disorder)	Congenital anomaly of cerebrum	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1254650002 View
1254650002	Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder)	Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1237418002 View
1237418002	Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome (disorder)	Asct1 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783703004 View
783703004	White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome (disorder)	Curatolo cilio pessagno syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
770721009 View
770721009	Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)	Microcephaly, thin corpus callosum, intellectual disability syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
772224009 View
772224009	Warburg micro syndrome (disorder)	Micro syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
204043002 View
204043002	Hypoplasia of corpus callosum (disorder)	Hypoplasia of corpus callosum	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
204044008 View
204044008	Aplasia of corpus callosum (disorder)	Aplasia of corpus callosum	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (18fb1d84-b776-5366-bf4f-e5701c68acfd) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q04.0	TRUE	ALWAYS Q04.0	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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