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Component

447351004

The component that hold information about this concept.

Fully Specified Name (FSN)

Vanishing white matter disease (disorder)

Shortest Term

Myelinosis centralis diffusa

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

Vanishing white matter disease (disorder)

SCTID: 447351004, Primitive, Active

447351004|Vanishing white matter disease (disorder)|

en Cach (childhood ataxia with diffuse central nervous system hypomyelination) syndrome
en Childhood ataxia with diffuse central nervous system hypomyelination
en Leucoencephalopathy with vanishing white matter
en Leukoencephalopathy with vanishing white matter
en Myelinosis centralis diffusa
en Vanishing white matter disease
en Vanishing white matter disease (disorder)

Expression

447351004 |Vanishing white matter disease (disorder)|
 <<< 22811006 |Leukoencephalopathy (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
418143002 |Cerebral degeneration (disorder)| + 
106018006 |Hereditary degenerative disease of central nervous system (disorder)| + 
192781003 |Leukodystrophy (disorder)| + 
763597000 |Hereditary ataxia (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 125495003 |Myelin sheath alteration (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 54115001 |Myelinated nerve fiber structure (body structure)| }
        { 116676008 |Associated morphology (attribute)| = 4720007 |Dystrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 68523003 |Cerebral white matter structure (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
4551993017 - CACH (childhood ataxia with diffuse central nervous system hypomyelination) syndrome (en) View
4551993017	en	Synonym (core metadata concept)	CACH (childhood ataxia with diffuse central nervous system hypomyelination) syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
4551992010 - Childhood ataxia with diffuse central nervous system hypomyelination (en) View
4551992010	en	Synonym (core metadata concept)	Childhood ataxia with diffuse central nervous system hypomyelination	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
4551994011 - Leucoencephalopathy with vanishing white matter (en) View
4551994011	en	Synonym (core metadata concept)	Leucoencephalopathy with vanishing white matter	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
4551995012 - Leukoencephalopathy with vanishing white matter (en) View
4551995012	en	Synonym (core metadata concept)	Leukoencephalopathy with vanishing white matter	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
4551991015 - Myelinosis centralis diffusa (en) View
4551991015	en	Synonym (core metadata concept)	Myelinosis centralis diffusa	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2883499019 - Vanishing white matter disease (en) View
2883499019	en	Synonym (core metadata concept)	Vanishing white matter disease	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2880283014 - Vanishing white matter disease (disorder) (en) View
2880283014	en	Fully specified name (core metadata concept)	Vanishing white matter disease (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (3818397021) - 447351004 -> 32693004 (116676008) View
116676008 \|Associated morphology (attribute)\|	32693004 \|Demyelination (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3822068022) - 447351004 -> 68523003 (363698007) View
363698007 \|Finding site (attribute)\|	68523003 \|Cerebral white matter structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6856297021) - 447351004 -> 16058431000119104 (116680003) View
116680003 \|Is a (attribute)\|	16058431000119104 \|White matter disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13719124029) - 447351004 -> 125495003 (116676008) View
116676008 \|Associated morphology (attribute)\|	125495003 \|Myelin sheath alteration (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13719125028) - 447351004 -> 763597000 (116680003) View
116680003 \|Is a (attribute)\|	763597000 \|Hereditary ataxia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13719126027) - 447351004 -> 418143002 (116680003) View
116680003 \|Is a (attribute)\|	418143002 \|Cerebral degeneration (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13719127020) - 447351004 -> 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 (13719128026) - 447351004 -> 68523003 (363698007) View
363698007 \|Finding site (attribute)\|	68523003 \|Cerebral white matter structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13719129023) - 447351004 -> 54115001 (363698007) View
363698007 \|Finding site (attribute)\|	54115001 \|Myelinated nerve fiber structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13719130029) - 447351004 -> 22811006 (116680003) View
116680003 \|Is a (attribute)\|	22811006 \|Leukoencephalopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13719131025) - 447351004 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13719132021) - 447351004 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13719133027) - 447351004 -> 192781003 (116680003) View
116680003 \|Is a (attribute)\|	192781003 \|Leukodystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3794557021) - 447351004 -> 81308009 (116680003) View
116680003 \|Is a (attribute)\|	81308009 \|Disorder of brain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3794558027) - 447351004 -> 6118003 (116680003) View
116680003 \|Is a (attribute)\|	6118003 \|Demyelinating disease of central nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3800552020) - 447351004 -> 32693004 (116676008) View
116676008 \|Associated morphology (attribute)\|	32693004 \|Demyelination (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3800553026) - 447351004 -> 68523003 (363698007) View
363698007 \|Finding site (attribute)\|	68523003 \|Cerebral white matter structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

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
22811006 View
22811006	Leukoencephalopathy (disorder)	Leucoencephalopathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
763597000 View
763597000	Hereditary ataxia (disorder)	Hereditary ataxia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
418143002 View
418143002	Cerebral degeneration (disorder)	Cerebral degeneration	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

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1156768008 View
1156768008	Ovarioleukodystrophy (disorder)	Ovarioleucodystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (56d145d9-66ad-5b31-8546-617025aeb707) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G37.8	TRUE	ALWAYS G37.8	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 (76287921-5f37-5641-83f2-94863320a8e2) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E75.2	TRUE	ALWAYS E75.2 \| 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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