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Terminology chevron_right Concepts chevron_right 773230003

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Component

773230003

The component that hold information about this concept.

Fully Specified Name (FSN)

Cyclin-dependent kinase-like 5 deficiency (disorder)

Shortest Term

Cdkl5 deficiency disorder

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

Cyclin-dependent kinase-like 5 deficiency (disorder)

SCTID: 773230003, Primitive, Active

773230003|Cyclin-dependent kinase-like 5 deficiency (disorder)|

en Cdkl5-dee - cdkl5 - developmental and epileptic encephalopathy
en Cdkl5-dee - cyclin-dependent kinase-like 5 developmental and epileptic encephalopathy
en Cdkl5 developmental and epileptic encephalopathy
en Cyclin-dependent kinase-like 5 developmental and epileptic encephalopathy
en Cyclin-dependent kinase-like 5 developmental and epileptic encephalopathy (disorder)
en Cdkl5 deficiency disorder

Expression

773230003 |Cyclin-dependent kinase-like 5 deficiency (disorder)|
 <<< 1362108000 |Genetic intellectual disability (disorder)| + 
1275631007 |Developmental and epileptic encephalopathy (disorder)| + 
1137472008 |Neurodevelopmental delay (disorder)| : 
        { 363698007 |Finding site (attribute)| = 12738006 |Brain structure (body structure)|,
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
3722624012 - CDKL5 (cyclin-dependent kinase-like 5) deficiency (en) View
3722624012	en	Synonym (core metadata concept)	CDKL5 (cyclin-dependent kinase-like 5) deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
5443812010 - CDKL5-DEE - CDKL5 - developmental and epileptic encephalopathy (en) View
5443812010	en	Synonym (core metadata concept)	CDKL5-DEE - CDKL5 - developmental and epileptic encephalopathy	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
5443811015 - CDKL5-DEE - cyclin-dependent kinase-like 5 developmental and epileptic encephalopathy (en) View
5443811015	en	Synonym (core metadata concept)	CDKL5-DEE - cyclin-dependent kinase-like 5 developmental and epileptic encephalopathy	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
5443813017 - CDKL5 developmental and epileptic encephalopathy (en) View
5443813017	en	Synonym (core metadata concept)	CDKL5 developmental and epileptic encephalopathy	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
3722628010 - CDKL5-related epileptic encephalopathy (en) View
3722628010	en	Synonym (core metadata concept)	CDKL5-related epileptic encephalopathy	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
3722626014 - Cyclin-dependent kinase-like 5 deficiency (en) View
3722626014	en	Synonym (core metadata concept)	Cyclin-dependent kinase-like 5 deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	False
3722623018 - Cyclin-dependent kinase-like 5 deficiency (disorder) (en) View
3722623018	en	Fully specified name (core metadata concept)	Cyclin-dependent kinase-like 5 deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	False
5443809012 - Cyclin-dependent kinase-like 5 developmental and epileptic encephalopathy (en) View
5443809012	en	Synonym (core metadata concept)	Cyclin-dependent kinase-like 5 developmental and epileptic encephalopathy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
5443810019 - Cyclin-dependent kinase-like 5 developmental and epileptic encephalopathy (disorder) (en) View
5443810019	en	Fully specified name (core metadata concept)	Cyclin-dependent kinase-like 5 developmental and epileptic encephalopathy (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3722625013 - CDKL5 deficiency disorder (en) View
3722625013	en	Synonym (core metadata concept)	CDKL5 deficiency disorder	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (10590608024) - 773230003 -> 248290002 (116680003) View
116680003 \|Is a (attribute)\|	248290002 \|Developmental delay (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16407930025) - 773230003 -> 1137472008 (116680003) View
116680003 \|Is a (attribute)\|	1137472008 \|Neurodevelopmental delay (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10590609027) - 773230003 -> 128613002 (116680003) View
116680003 \|Is a (attribute)\|	128613002 \|Seizure disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16315347029) - 773230003 -> 1275631007 (116680003) View
116680003 \|Is a (attribute)\|	1275631007 \|Developmental and epileptic encephalopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10590607025) - 773230003 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16317328026) - 773230003 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094764021) - 773230003 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094765022) - 773230003 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096129021) - 773230003 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096130027) - 773230003 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11569308024) - 773230003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12527849021) - 773230003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10590606023) - 773230003 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1137472008 View
1137472008	Neurodevelopmental delay (disorder)	Neurodevelopmental delay	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1362108000 View
1362108000	Genetic intellectual disability (disorder)	Genetic intellectual disability	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
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 (cf30654a-19ba-5c91-a9b9-46ab8e79b02b) 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)\|

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