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Terminology chevron_right Concepts chevron_right 703536004

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Component

703536004

The component that hold information about this concept.

Fully Specified Name (FSN)

Megalencephalic leukoencephalopathy with subcortical cysts (disorder)

Shortest Term

Van der knapp disease

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

Megalencephalic leukoencephalopathy with subcortical cysts (disorder)

SCTID: 703536004, Primitive, Active

703536004|Megalencephalic leukoencephalopathy with subcortical cysts (disorder)|

en Infantile leucoencephalopathy and megalencephaly
en Leucoencephalopathy with swelling and cysts
en Megalencephalic leucoencephalopathy with subcortical cysts
en Vacuolating leucoencephalopathy
en Vacuolating megalencephalic leucoencephalopathy with subcortical cysts
en Infantile leukoencephalopathy and megalencephaly
en Leukoencephalopathy with swelling and cysts
en Megalencephalic leukoencephalopathy with subcortical cysts
en Megalencephalic leukoencephalopathy with subcortical cysts (disorder)
en Vacuolating leukoencephalopathy
en Vacuolating megalencephalic leukoencephalopathy with subcortical cysts
en Van der knapp disease

Expression

703536004 |Megalencephalic leukoencephalopathy with subcortical cysts (disorder)|
 <<< 9740002 |Macroencephaly (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| + 
22811006 |Leukoencephalopathy (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 442021009 |Enlargement (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 83678007 |Cerebral structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 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
3789593010 - Infantile leucoencephalopathy and megalencephaly (en) View
3789593010	en	Synonym (core metadata concept)	Infantile leucoencephalopathy and megalencephaly	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3789595015 - Leucoencephalopathy with swelling and cysts (en) View
3789595015	en	Synonym (core metadata concept)	Leucoencephalopathy with swelling and cysts	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3789594016 - Megalencephalic leucoencephalopathy with subcortical cysts (en) View
3789594016	en	Synonym (core metadata concept)	Megalencephalic leucoencephalopathy with subcortical cysts	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3789592017 - Vacuolating leucoencephalopathy (en) View
3789592017	en	Synonym (core metadata concept)	Vacuolating leucoencephalopathy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3789591012 - Vacuolating megalencephalic leucoencephalopathy with subcortical cysts (en) View
3789591012	en	Synonym (core metadata concept)	Vacuolating megalencephalic leucoencephalopathy with subcortical cysts	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3009015016 - Infantile leukoencephalopathy and megalencephaly (en) View
3009015016	en	Synonym (core metadata concept)	Infantile leukoencephalopathy and megalencephaly	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3009187019 - Leukoencephalopathy with swelling and cysts (en) View
3009187019	en	Synonym (core metadata concept)	Leukoencephalopathy with swelling and cysts	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3009036019 - Megalencephalic leukoencephalopathy with subcortical cysts (en) View
3009036019	en	Synonym (core metadata concept)	Megalencephalic leukoencephalopathy with subcortical cysts	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3009253015 - Megalencephalic leukoencephalopathy with subcortical cysts (disorder) (en) View
3009253015	en	Fully specified name (core metadata concept)	Megalencephalic leukoencephalopathy with subcortical cysts (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3009142018 - Vacuolating leukoencephalopathy (en) View
3009142018	en	Synonym (core metadata concept)	Vacuolating leukoencephalopathy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3009208017 - Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (en) View
3009208017	en	Synonym (core metadata concept)	Vacuolating megalencephalic leukoencephalopathy with subcortical cysts	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3009374016 - Van der Knapp disease (en) View
3009374016	en	Synonym (core metadata concept)	Van der Knapp disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6771092022) - 703536004 -> 258335003 (363698007) View
363698007 \|Finding site (attribute)\|	258335003 \|Entire brain (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12997653026) - 703536004 -> 83678007 (363698007) View
363698007 \|Finding site (attribute)\|	83678007 \|Cerebral structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069834029) - 703536004 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5046501021) - 703536004 -> 68523003 (363698007) View
363698007 \|Finding site (attribute)\|	68523003 \|Cerebral white matter structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6771090025) - 703536004 -> 441880008 (116676008) View
116676008 \|Associated morphology (attribute)\|	441880008 \|Congenital enlargement (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11300880027) - 703536004 -> 442021009 (116676008) View
116676008 \|Associated morphology (attribute)\|	442021009 \|Enlargement (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10521296024) - 703536004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5046502025) - 703536004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5046503024) - 703536004 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5046504029) - 703536004 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5046505028) - 703536004 -> 441880008 (116676008) View
116676008 \|Associated morphology (attribute)\|	441880008 \|Congenital enlargement (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5046506027) - 703536004 -> 258335003 (363698007) View
363698007 \|Finding site (attribute)\|	258335003 \|Entire brain (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6771091026) - 703536004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5046497027) - 703536004 -> 9740002 (116680003) View
116680003 \|Is a (attribute)\|	9740002 \|Macroencephaly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5046498021) - 703536004 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5046499029) - 703536004 -> 22811006 (116680003) View
116680003 \|Is a (attribute)\|	22811006 \|Leukoencephalopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5046500022) - 703536004 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
9740002 View
9740002	Macroencephaly (disorder)	Macrocephaly	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	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
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363235000 View
363235000	Hereditary disorder of nervous system (disorder)	Hereditary disorder of nervous system	900000000000073002 \|Sufficiently defined by necessary conditions 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 (58b09bab-c0b2-5a34-985f-8fbb08c26f8b) 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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