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Terminology chevron_right Concepts chevron_right 80544005

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Component

80544005

The component that hold information about this concept.

Fully Specified Name (FSN)

Spongy degeneration of central nervous system (disorder)

Shortest Term

Canavan's disease

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

Spongy degeneration of central nervous system (disorder)

SCTID: 80544005, Defined, Active

80544005|Spongy degeneration of central nervous system (disorder)|

en Aspartoacylase deficiency
en Spongiform leucodystrophy
en Spongy degeneration of central nervous system
en Spongy degeneration of central nervous system (disorder)
en Spongy degeneration of white matter
en Spongy degeneration of white matter in infancy
en Canavan-van bogaert-bertrand disease
en Canavan's disease
en Canavan-van-bogaert-bertrand disease

Expression

80544005 |Spongy degeneration of central nervous system (disorder)|
 === 237911005 |Disorder of amino acid and organic acid metabolism (disorder)| + 
192781003 |Leukodystrophy (disorder)| + 
106018006 |Hereditary degenerative disease of central nervous system (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 68245003 |Spongy degeneration (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 21483005 |Structure of central nervous system (body structure)| }
        { 116676008 |Associated morphology (attribute)| = 4720007 |Dystrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 389080008 |White matter structure of brain and spinal cord (body structure)| }
        { 116676008 |Associated morphology (attribute)| = 125495003 |Myelin sheath alteration (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 54115001 |Myelinated nerve fiber structure (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
504450017 - Aspartoacylase deficiency (en) View
504450017	en	Synonym (core metadata concept)	Aspartoacylase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
504452013 - Spongiform leucodystrophy (en) View
504452013	en	Synonym (core metadata concept)	Spongiform leucodystrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
133637014 - Spongy degeneration of central nervous system (en) View
133637014	en	Synonym (core metadata concept)	Spongy degeneration of central nervous system	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
821716016 - Spongy degeneration of central nervous system (disorder) (en) View
821716016	en	Fully specified name (core metadata concept)	Spongy degeneration of central nervous system (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
133639012 - Spongy degeneration of white matter (en) View
133639012	en	Synonym (core metadata concept)	Spongy degeneration of white matter	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
504451018 - Spongy degeneration of white matter in infancy (en) View
504451018	en	Synonym (core metadata concept)	Spongy degeneration of white matter in infancy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2647269010 - Canavan-van Bogaert-Bertrand disease (en) View
2647269010	en	Synonym (core metadata concept)	Canavan-van Bogaert-Bertrand disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
133638016 - Cavanan-van Bogaert-Bertrand disease (en) View
133638016	en	Synonym (core metadata concept)	Cavanan-van Bogaert-Bertrand disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
133640014 - Canavan's disease (en) View
133640014	en	Synonym (core metadata concept)	Canavan's disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
504449017 - Canavan-van-Bogaert-Bertrand disease (en) View
504449017	en	Synonym (core metadata concept)	Canavan-van-Bogaert-Bertrand disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (278921023) - 80544005 -> 80690008 (116680003) View
116680003 \|Is a (attribute)\|	80690008 \|Degenerative disease of the central nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15587893029) - 80544005 -> 192781003 (116680003) View
116680003 \|Is a (attribute)\|	192781003 \|Leukodystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15587894024) - 80544005 -> 389080008 (363698007) View
363698007 \|Finding site (attribute)\|	389080008 \|White matter structure of brain and spinal cord (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15587895020) - 80544005 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15587896021) - 80544005 -> 54115001 (363698007) View
363698007 \|Finding site (attribute)\|	54115001 \|Myelinated nerve fiber structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15587897028) - 80544005 -> 125495003 (116676008) View
116676008 \|Associated morphology (attribute)\|	125495003 \|Myelin sheath alteration (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15588451020) - 80544005 -> 106018006 (116680003) View
116680003 \|Is a (attribute)\|	106018006 \|Hereditary degenerative disease of central nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15588452029) - 80544005 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (549036028) - 80544005 -> 21483005 (363698007) View
363698007 \|Finding site (attribute)\|	21483005 \|Structure of central nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (875195028) - 80544005 -> 68245003 (116676008) View
116676008 \|Associated morphology (attribute)\|	68245003 \|Spongy degeneration (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3307390024) - 80544005 -> 21483005 (363698007) View
363698007 \|Finding site (attribute)\|	21483005 \|Structure of central nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3307391023) - 80544005 -> 68245003 (116676008) View
116676008 \|Associated morphology (attribute)\|	68245003 \|Spongy degeneration (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (278922027) - 80544005 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (875196027) - 80544005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (278920024) - 80544005 -> 237911005 (116680003) View
116680003 \|Is a (attribute)\|	237911005 \|Disorder of amino acid and organic acid metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
106018006 View
106018006	Hereditary degenerative disease of central nervous system (disorder)	Hereditary degenerative disease of central nervous system	900000000000073002 \|Sufficiently defined by necessary conditions 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
192781003 View
192781003	Leukodystrophy (disorder)	Leucodystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237911005 View
237911005	Disorder of amino acid and organic acid metabolism (disorder)	Disorder of amino acid and organic acid metabolism	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 (f7c6e394-a850-5a8c-8d56-9f74a120b06e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E75.2	TRUE	ALWAYS E75.2	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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