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Terminology chevron_right Concepts chevron_right 763861000

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Component

763861000

The component that hold information about this concept.

Fully Specified Name (FSN)

Pachygyria, intellectual disability, epilepsy syndrome (disorder)

Shortest Term

Kuzniecky syndrome

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

Pachygyria, intellectual disability, epilepsy syndrome (disorder)

SCTID: 763861000, Primitive, Active

763861000|Pachygyria, intellectual disability, epilepsy syndrome (disorder)|

en Kuzniecky syndrome
en Pachygyria, intellectual disability, epilepsy syndrome
en Pachygyria, intellectual disability, epilepsy syndrome (disorder)

Expression

763861000 |Pachygyria, intellectual disability, epilepsy syndrome (disorder)|
 <<< 23024003 |Macrogyria (disorder)| + 
33595009 |Arachnoid cyst (disorder)| + 
82354003 |Multiple system malformation syndrome (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
128613002 |Seizure disorder (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| + 
253199003 |Congenital malformation of the meninges (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1362108000 |Genetic intellectual disability (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 442021009 |Enlargement (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 279165009 |Structure of cerebral gyrus (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 785284009 |Arachnoid cyst (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 75042008 |Arachnoid structure (body 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
3644782012 - Kuzniecky syndrome (en) View
3644782012	en	Synonym (core metadata concept)	Kuzniecky syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3644781017 - Pachygyria, intellectual disability, epilepsy syndrome (en) View
3644781017	en	Synonym (core metadata concept)	Pachygyria, intellectual disability, epilepsy syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3644780016 - Pachygyria, intellectual disability, epilepsy syndrome (disorder) (en) View
3644780016	en	Fully specified name (core metadata concept)	Pachygyria, intellectual disability, epilepsy syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9159825023) - 763861000 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16316626025) - 763861000 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094706020) - 763861000 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094707027) - 763861000 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096071020) - 763861000 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096072029) - 763861000 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069920025) - 763861000 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9182119029) - 763861000 -> 75042008 (363698007) View
363698007 \|Finding site (attribute)\|	75042008 \|Arachnoid structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9189581026) - 763861000 -> 441880008 (116676008) View
116676008 \|Associated morphology (attribute)\|	441880008 \|Congenital enlargement (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9189582022) - 763861000 -> 279165009 (363698007) View
363698007 \|Finding site (attribute)\|	279165009 \|Structure of cerebral gyrus (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9223850025) - 763861000 -> 367643001 (116676008) View
116676008 \|Associated morphology (attribute)\|	367643001 \|Cyst (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9223851026) - 763861000 -> 75042008 (363698007) View
363698007 \|Finding site (attribute)\|	75042008 \|Arachnoid structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9238133023) - 763861000 -> 279165009 (363698007) View
363698007 \|Finding site (attribute)\|	279165009 \|Structure of cerebral gyrus (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11571520025) - 763861000 -> 785284009 (116676008) View
116676008 \|Associated morphology (attribute)\|	785284009 \|Arachnoid cyst (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11571521026) - 763861000 -> 442021009 (116676008) View
116676008 \|Associated morphology (attribute)\|	442021009 \|Enlargement (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515983022) - 763861000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515984027) - 763861000 -> 253199003 (116680003) View
116680003 \|Is a (attribute)\|	253199003 \|Congenital malformation of the meninges (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515985026) - 763861000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9159821025) - 763861000 -> 23024003 (116680003) View
116680003 \|Is a (attribute)\|	23024003 \|Macrogyria (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9159822021) - 763861000 -> 33595009 (116680003) View
116680003 \|Is a (attribute)\|	33595009 \|Arachnoid cyst (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9159823027) - 763861000 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9159824022) - 763861000 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9159826024) - 763861000 -> 128613002 (116680003) View
116680003 \|Is a (attribute)\|	128613002 \|Seizure disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9159827026) - 763861000 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9182118021) - 763861000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9223852022) - 763861000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1362108000 View
1362108000	Genetic intellectual disability (disorder)	Genetic intellectual disability	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
253199003 View
253199003	Congenital malformation of the meninges (disorder)	Congenital anomaly of the meninges	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
23024003 View
23024003	Macrogyria (disorder)	Macrogyria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
128613002 View
128613002	Seizure disorder (disorder)	Bệnh co giật	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
33595009 View
33595009	Arachnoid cyst (disorder)	Nang màng nhện	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
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363235000 View
363235000	Hereditary disorder of nervous system (disorder)	Hereditary disorder of nervous system	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 (02eaa68b-2fd7-5c20-8aaf-91ed260fab21) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G40.4	TRUE	ALWAYS G40.4 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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)\|
ExtendedMap object (08612ce8-0d52-5e43-b6ba-671dcfad8b74) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q04.6	TRUE	ALWAYS Q04.6	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)\|
ExtendedMap object (0e3a6d35-102c-5d07-af37-237f71982d57) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q04.3	TRUE	ALWAYS Q04.3	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)\|
ExtendedMap object (263c748e-6048-5dbb-89ac-90f4ee75c4d4) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q04.3	TRUE	ALWAYS Q04.3	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)\|
ExtendedMap object (53755e65-a508-5d21-b09c-6053873e01eb) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	F79.9	TRUE	ALWAYS F79.9	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)\|
ExtendedMap object (85f49d9d-03d4-5b4e-b406-97ef7cc16fe7) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	F79.9	TRUE	ALWAYS F79.9	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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