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Terminology chevron_right Concepts chevron_right 768666006

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Component

768666006

The component that hold information about this concept.

Fully Specified Name (FSN)

Syntaxin binding protein 1 developmental and epileptic encephalopathy (disorder)

Shortest Term

Stxbp1 encephalopathy with epilepsy

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

Syntaxin binding protein 1 developmental and epileptic encephalopathy (disorder)

SCTID: 768666006, Primitive, Active

768666006|Syntaxin binding protein 1 developmental and epileptic encephalopathy (disorder)|

en Stxbp1-dee - stxbp1 developmental and epileptic encephalopathy
en Stxbp1 developmental and epileptic encephalopathy
en Syntaxin binding protein 1 developmental and epileptic encephalopathy
en Syntaxin binding protein 1 developmental and epileptic encephalopathy (disorder)

Expression

768666006 |Syntaxin binding protein 1 developmental and epileptic encephalopathy (disorder)|
 <<< 1275631007 |Developmental and epileptic encephalopathy (disorder)| : 
        { 363698007 |Finding site (attribute)| = 12738006 |Brain structure (body structure)|,
246454002 |Occurrence (attribute)| = 3658006 |Infancy (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
3686413012 - Early infantile epileptic encephalopathy 4 (en) View
3686413012	en	Synonym (core metadata concept)	Early infantile epileptic encephalopathy 4	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	False
5443835013 - STXBP1-DEE - STXBP1 developmental and epileptic encephalopathy (en) View
5443835013	en	Synonym (core metadata concept)	STXBP1-DEE - STXBP1 developmental and epileptic encephalopathy	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
5443832011 - STXBP1 developmental and epileptic encephalopathy (en) View
5443832011	en	Synonym (core metadata concept)	STXBP1 developmental and epileptic encephalopathy	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
3686410010 - STXBP1 encephalopathy with epilepsy (en) View
3686410010	en	Synonym (core metadata concept)	STXBP1 encephalopathy with epilepsy	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
3686408013 - STXBP1-related early-onset encephalopathy (en) View
3686408013	en	Synonym (core metadata concept)	STXBP1-related early-onset encephalopathy	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
3686414018 - STXBP1-related epileptic encephalopathy (en) View
3686414018	en	Synonym (core metadata concept)	STXBP1-related epileptic encephalopathy	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
3686411014 - STXBP1 (syntaxin binding protein 1) epileptic encephalopathy (en) View
3686411014	en	Synonym (core metadata concept)	STXBP1 (syntaxin binding protein 1) epileptic encephalopathy	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
5443833018 - Syntaxin binding protein 1 developmental and epileptic encephalopathy (en) View
5443833018	en	Synonym (core metadata concept)	Syntaxin binding protein 1 developmental and epileptic encephalopathy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
5443834012 - Syntaxin binding protein 1 developmental and epileptic encephalopathy (disorder) (en) View
5443834012	en	Fully specified name (core metadata concept)	Syntaxin binding protein 1 developmental and epileptic encephalopathy (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3686412019 - Syntaxin binding protein 1 encephalopathy with epilepsy (en) View
3686412019	en	Synonym (core metadata concept)	Syntaxin binding protein 1 encephalopathy with epilepsy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	False
3686409017 - Syntaxin binding protein 1 encephalopathy with epilepsy (disorder) (en) View
3686409017	en	Fully specified name (core metadata concept)	Syntaxin binding protein 1 encephalopathy with epilepsy (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9442868027) - 768666006 -> 83678007 (363698007) View
363698007 \|Finding site (attribute)\|	83678007 \|Cerebral structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9442869024) - 768666006 -> 230429005 (116680003) View
116680003 \|Is a (attribute)\|	230429005 \|Early infantile epileptic encephalopathy with suppression bursts (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15612018020) - 768666006 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15612019028) - 768666006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16315348023) - 768666006 -> 1275631007 (116680003) View
116680003 \|Is a (attribute)\|	1275631007 \|Developmental and epileptic encephalopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16315349026) - 768666006 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16315350026) - 768666006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9442867021) - 768666006 -> 3658006 (246454002) View
246454002 \|Occurrence (attribute)\|	3658006 \|Infancy (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1275631007 View
1275631007	Developmental and epileptic encephalopathy (disorder)	Developmental and epileptic encephalopathy	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 (6f614925-80e6-50e1-a786-aa3ad46878c7) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G40.3	TRUE	ALWAYS G40.3	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 (cc94e59b-158c-59c4-9b0c-e15330e3eb75) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G93.8	TRUE	ALWAYS G93.8 \| 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)\|

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