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Terminology chevron_right Concepts chevron_right 768663003

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Component

768663003

The component that hold information about this concept.

Fully Specified Name (FSN)

Leukoencephalopathy with mild cerebellar ataxia and white matter edema (disorder)

Shortest Term

Leucoencephalopathy with ataxia

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

Leukoencephalopathy with mild cerebellar ataxia and white matter edema (disorder)

SCTID: 768663003, Primitive, Active

768663003|Leukoencephalopathy with mild cerebellar ataxia and white matter edema (disorder)|

en Clcn2 (chloride voltage-gated channel 2) related leucoencephalopathy
en Clcn2-related leucoencephalopathy
en Leucoencephalopathy with ataxia
en Leucoencephalopathy with mild cerebellar ataxia and white matter oedema
en Clcn2 (chloride voltage-gated channel 2) related leukoencephalopathy
en Clcn2-related leukoencephalopathy
en Leukoencephalopathy with ataxia
en Leukoencephalopathy with mild cerebellar ataxia and white matter edema
en Leukoencephalopathy with mild cerebellar ataxia and white matter edema (disorder)

Expression

768663003 |Leukoencephalopathy with mild cerebellar ataxia and white matter edema (disorder)|
 <<< 85995004 |Autosomal recessive hereditary disorder (disorder)| + 
22811006 |Leukoencephalopathy (disorder)| + 
85102008 |Cerebellar ataxia (disorder)| + 
763597000 |Hereditary ataxia (disorder)| : 
        { 363698007 |Finding site (attribute)| = 113305005 |Cerebellar structure (body structure)| }
        { 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
3789585010 - CLCN2 (chloride voltage-gated channel 2) related leucoencephalopathy (en) View
3789585010	en	Synonym (core metadata concept)	CLCN2 (chloride voltage-gated channel 2) related leucoencephalopathy	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3789583015 - CLCN2-related leucoencephalopathy (en) View
3789583015	en	Synonym (core metadata concept)	CLCN2-related leucoencephalopathy	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
3789586011 - Leucoencephalopathy with ataxia (en) View
3789586011	en	Synonym (core metadata concept)	Leucoencephalopathy with ataxia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3789584014 - Leucoencephalopathy with mild cerebellar ataxia and white matter oedema (en) View
3789584014	en	Synonym (core metadata concept)	Leucoencephalopathy with mild cerebellar ataxia and white matter oedema	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3686400018 - Leukoencephalopathy with mild cerebellar ataxia and white matter oedema (en) View
3686400018	en	Synonym (core metadata concept)	Leukoencephalopathy with mild cerebellar ataxia and white matter oedema	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	False
3686401019 - CLCN2 (chloride voltage-gated channel 2) related leukoencephalopathy (en) View
3686401019	en	Synonym (core metadata concept)	CLCN2 (chloride voltage-gated channel 2) related leukoencephalopathy	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3686397010 - CLCN2-related leukoencephalopathy (en) View
3686397010	en	Synonym (core metadata concept)	CLCN2-related leukoencephalopathy	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
3686399013 - Leukoencephalopathy with ataxia (en) View
3686399013	en	Synonym (core metadata concept)	Leukoencephalopathy with ataxia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3686396018 - Leukoencephalopathy with mild cerebellar ataxia and white matter edema (en) View
3686396018	en	Synonym (core metadata concept)	Leukoencephalopathy with mild cerebellar ataxia and white matter edema	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3686398017 - Leukoencephalopathy with mild cerebellar ataxia and white matter edema (disorder) (en) View
3686398017	en	Fully specified name (core metadata concept)	Leukoencephalopathy with mild cerebellar ataxia and white matter edema (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9446119028) - 768663003 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9446115023) - 768663003 -> 113305005 (363698007) View
363698007 \|Finding site (attribute)\|	113305005 \|Cerebellar structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9446118020) - 768663003 -> 68523003 (363698007) View
363698007 \|Finding site (attribute)\|	68523003 \|Cerebral white matter structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9446113027) - 768663003 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9446114022) - 768663003 -> 22811006 (116680003) View
116680003 \|Is a (attribute)\|	22811006 \|Leukoencephalopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9446116024) - 768663003 -> 85102008 (116680003) View
116680003 \|Is a (attribute)\|	85102008 \|Cerebellar ataxia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9446117026) - 768663003 -> 763597000 (116680003) View
116680003 \|Is a (attribute)\|	763597000 \|Hereditary ataxia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
22811006 View
22811006	Leukoencephalopathy (disorder)	Leucoencephalopathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
85102008 View
85102008	Cerebellar ataxia (disorder)	Cerebellar ataxia	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
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	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 (6ceaee08-45b7-5c45-8814-d5d04a23b63a) 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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