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Terminology chevron_right Concepts chevron_right 703526007

Production

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Component

703526007

The component that hold information about this concept.

Fully Specified Name (FSN)

Neuronal ceroid lipofuscinosis 8 (disorder)

Shortest Term

Northern epilepsy

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

Neuronal ceroid lipofuscinosis 8 (disorder)

SCTID: 703526007, Primitive, Active

703526007|Neuronal ceroid lipofuscinosis 8 (disorder)|

en Progressive epilepsy-intellectual disability syndrome finnish type
en Progressive epilepsy-intellectual disability syndrome finnish type (disorder)
en Neuronal ceroid lipofuscinosis 8
en Northern epilepsy
en Progressive epilepsy with mental retardation

Expression

703526007 |Neuronal ceroid lipofuscinosis 8 (disorder)|
 <<< 42012007 |Neuronal ceroid lipofuscinosis (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
95477007 |Congenital degeneration of nervous system (disorder)| + 
128289001 |Chronic metabolic disorder (disorder)| + 
128283000 |Chronic nervous system disorder (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1362108000 |Genetic intellectual disability (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 107669003 |Degenerative abnormality (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 247573007 |Intellectual ability (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 406208005 |Adaptation behavior (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3009093012 - Neuronal ceroid lipofuscinosis 8 (disorder) (en) View
3009093012	en	Fully specified name (core metadata concept)	Neuronal ceroid lipofuscinosis 8 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	False
3643141011 - Progressive epilepsy-intellectual disability syndrome Finnish type (en) View
3643141011	en	Synonym (core metadata concept)	Progressive epilepsy-intellectual disability syndrome Finnish type	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
3643140012 - Progressive epilepsy-intellectual disability syndrome Finnish type (disorder) (en) View
3643140012	en	Fully specified name (core metadata concept)	Progressive epilepsy-intellectual disability syndrome Finnish type (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
3009778015 - Neuronal ceroid lipofuscinosis 8 (en) View
3009778015	en	Synonym (core metadata concept)	Neuronal ceroid lipofuscinosis 8	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3008996014 - Northern epilepsy (en) View
3008996014	en	Synonym (core metadata concept)	Northern epilepsy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3008925016 - Progressive epilepsy with mental retardation (en) View
3008925016	en	Synonym (core metadata concept)	Progressive epilepsy with mental retardation	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9127766020) - 703526007 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16316588024) - 703526007 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12527889026) - 703526007 -> 128293007 (116680003) View
116680003 \|Is a (attribute)\|	128293007 \|Chronic mental disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15094604028) - 703526007 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094605027) - 703526007 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095969027) - 703526007 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095970026) - 703526007 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069829028) - 703526007 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5046436022) - 703526007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5046438023) - 703526007 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11569657028) - 703526007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12527890024) - 703526007 -> 95477007 (116680003) View
116680003 \|Is a (attribute)\|	95477007 \|Congenital degeneration of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12527891023) - 703526007 -> 128289001 (116680003) View
116680003 \|Is a (attribute)\|	128289001 \|Chronic metabolic disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12527892027) - 703526007 -> 128283000 (116680003) View
116680003 \|Is a (attribute)\|	128283000 \|Chronic nervous system disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12527893021) - 703526007 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12527894026) - 703526007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12527895025) - 703526007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12527896029) - 703526007 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5046437029) - 703526007 -> 33359002 (116676008) View
116676008 \|Associated morphology (attribute)\|	33359002 \|Degeneration (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12089315027) - 703526007 -> 107669003 (116676008) View
116676008 \|Associated morphology (attribute)\|	107669003 \|Degenerative abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5046434020) - 703526007 -> 42012007 (116680003) View
116680003 \|Is a (attribute)\|	42012007 \|Neuronal ceroid lipofuscinosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5046435021) - 703526007 -> 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
1362108000 View
1362108000	Genetic intellectual disability (disorder)	Genetic intellectual disability	900000000000073002 \|Sufficiently defined by necessary conditions 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
42012007 View
42012007	Neuronal ceroid lipofuscinosis (disorder)	Cerebromacular dystrophy	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
95477007 View
95477007	Congenital degeneration of nervous system (disorder)	Congenital neurological degeneration	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
128283000 View
128283000	Chronic nervous system disorder (disorder)	Chronic nervous system disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
128289001 View
128289001	Chronic metabolic disorder (disorder)	Chronic metabolic disease	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 (c38cfac2-bb42-5a38-9091-d2ac571a2363) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E75.4	TRUE	ALWAYS E75.4 \| 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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