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Terminology chevron_right Concepts chevron_right 733623005

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Component

733623005

The component that hold information about this concept.

Fully Specified Name (FSN)

Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)

Shortest Term

Autism spectrum disorder, epilepsy, arthrogryposis 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

Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)

SCTID: 733623005, Primitive, Active

733623005|Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)|

en Autism spectrum disorder, epilepsy, arthrogryposis syndrome
en Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
en Slc35a3-cdg - solute carrier family 35 member a3 congenital disorder of glycosylation

Expression

733623005 |Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)|
 <<< 24269006 |Distal arthrogryposis syndrome (disorder)| + 
84757009 |Epilepsy (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
238045003 |Disorder of glycoprotein metabolism (disorder)| + 
35919005 |Pervasive developmental disorder (disorder)| + 
28204005 |Inherited arthrogryposis (disorder)| + 
128190004 |Inherited metabolic disorder of nervous system (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 57048009 |Contracture (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 785818007 |Structure of joint region (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 57048009 |Contracture (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 773190007 |Joint structure of multiple body sites (body structure)| }
        { 363713009 |Has interpretation (attribute)| = 1250004 |Decreased (qualifier value)|,
363714003 |Interprets (attribute)| = 364564000 |Range of joint movement (observable entity)| }
        { 363698007 |Finding site (attribute)| = 83678007 |Cerebral structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3472804017 - Autism spectrum disorder, epilepsy, arthrogryposis syndrome (en) View
3472804017	en	Synonym (core metadata concept)	Autism spectrum disorder, epilepsy, arthrogryposis syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3472803011 - Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) (en) View
3472803011	en	Fully specified name (core metadata concept)	Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3472805016 - SLC35A3-CDG - solute carrier family 35 member A3 congenital disorder of glycosylation (en) View
3472805016	en	Synonym (core metadata concept)	SLC35A3-CDG - solute carrier family 35 member A3 congenital disorder of glycosylation	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16198057029) - 733623005 -> 773190007 (363698007) View
363698007 \|Finding site (attribute)\|	773190007 \|Joint structure of multiple body sites (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16198058023) - 733623005 -> 57048009 (116676008) View
116676008 \|Associated morphology (attribute)\|	57048009 \|Contracture (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7092641026) - 733623005 -> 408856003 (116680003) View
116680003 \|Is a (attribute)\|	408856003 \|Autistic disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15548694020) - 733623005 -> 35919005 (116680003) View
116680003 \|Is a (attribute)\|	35919005 \|Pervasive developmental disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15507986025) - 733623005 -> 28204005 (116680003) View
116680003 \|Is a (attribute)\|	28204005 \|Inherited arthrogryposis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7092640025) - 733623005 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15120429027) - 733623005 -> 128190004 (116680003) View
116680003 \|Is a (attribute)\|	128190004 \|Inherited metabolic disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7092643028) - 733623005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7099796027) - 733623005 -> 57048009 (116676008) View
116676008 \|Associated morphology (attribute)\|	57048009 \|Contracture (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7099797020) - 733623005 -> 39352004 (363698007) View
363698007 \|Finding site (attribute)\|	39352004 \|Joint structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11512183021) - 733623005 -> 364564000 (363714003) View
363714003 \|Interprets (attribute)\|	364564000 \|Range of joint movement (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11512184026) - 733623005 -> 1250004 (363713009) View
363713009 \|Has interpretation (attribute)\|	1250004 \|Decreased (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11577826024) - 733623005 -> 785818007 (363698007) View
363698007 \|Finding site (attribute)\|	785818007 \|Structure of joint region (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11577827026) - 733623005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11583050029) - 733623005 -> 57048009 (116676008) View
116676008 \|Associated morphology (attribute)\|	57048009 \|Contracture (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11583051025) - 733623005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7092642022) - 733623005 -> 91175000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	91175000 \|Seizure (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7092636023) - 733623005 -> 24269006 (116680003) View
116680003 \|Is a (attribute)\|	24269006 \|Distal arthrogryposis syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7092637025) - 733623005 -> 84757009 (116680003) View
116680003 \|Is a (attribute)\|	84757009 \|Epilepsy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7092638024) - 733623005 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7092639027) - 733623005 -> 238045003 (116680003) View
116680003 \|Is a (attribute)\|	238045003 \|Disorder of glycoprotein metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7092646020) - 733623005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7099798026) - 733623005 -> 83678007 (363698007) View
363698007 \|Finding site (attribute)\|	83678007 \|Cerebral structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
128190004 View
128190004	Inherited metabolic disorder of nervous system (disorder)	Inherited metabolic disorder of nervous system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
28204005 View
28204005	Inherited arthrogryposis (disorder)	Inherited arthrogryposis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
24269006 View
24269006	Distal arthrogryposis syndrome (disorder)	Distal arthrogryposis	900000000000074008 \|Necessary but not sufficient concept 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
84757009 View
84757009	Epilepsy (disorder)	Epilepsy	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
238045003 View
238045003	Disorder of glycoprotein metabolism (disorder)	Glycoprotein metabolism disorder	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 (376ea455-6c72-5ed9-b93e-74eb054115b8) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	TRUE	ALWAYS Q87.8 \| 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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