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Terminology chevron_right Concepts chevron_right 58258004

Production

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Component

58258004

The component that hold information about this concept.

Fully Specified Name (FSN)

Infantile neuronal ceroid lipofuscinosis (disorder)

Shortest Term

Santavuori 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

Infantile neuronal ceroid lipofuscinosis (disorder)

SCTID: 58258004, Primitive, Active

58258004|Infantile neuronal ceroid lipofuscinosis (disorder)|

en Hagberg-santavouri type neuronal ceroid lipofuscinosis
en Haltia-santavouri type neuronal ceroid lipofuscinosis
en Infantile neuronal ceroid lipofuscinosis
en Infantile neuronal ceroid lipofuscinosis (disorder)
en Polyunsaturated acid lipidosis
en Polyunsaturated fatty acid lipidosis
en Neuronal ceroid lipofuscinosis infantile finnish type
en Hagberg-santavuori disease
en Neuronal ceroid lipofuscinosis, infantile finnish type
en Santavuori disease

Expression

58258004 |Infantile neuronal ceroid lipofuscinosis (disorder)|
 <<< 42012007 |Neuronal ceroid lipofuscinosis (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 107669003 |Degenerative abnormality (morphologic abnormality)| }
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
1231818019 - Hagberg-Santavouri type neuronal ceroid lipofuscinosis (en) View
1231818019	en	Synonym (core metadata concept)	Hagberg-Santavouri type neuronal ceroid lipofuscinosis	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
1231821017 - Haltia-Santavouri type neuronal ceroid lipofuscinosis (en) View
1231821017	en	Synonym (core metadata concept)	Haltia-Santavouri type neuronal ceroid lipofuscinosis	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
96816010 - Infantile neuronal ceroid lipofuscinosis (en) View
96816010	en	Synonym (core metadata concept)	Infantile neuronal ceroid lipofuscinosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
796970016 - Infantile neuronal ceroid lipofuscinosis (disorder) (en) View
796970016	en	Fully specified name (core metadata concept)	Infantile neuronal ceroid lipofuscinosis (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
96820014 - Polyunsaturated acid lipidosis (en) View
96820014	en	Synonym (core metadata concept)	Polyunsaturated acid lipidosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1231820016 - Polyunsaturated fatty acid lipidosis (en) View
1231820016	en	Synonym (core metadata concept)	Polyunsaturated fatty acid lipidosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1231819010 - Neuronal ceroid lipofuscinosis infantile Finnish type (en) View
1231819010	en	Synonym (core metadata concept)	Neuronal ceroid lipofuscinosis infantile Finnish type	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
96817018 - Hagberg-Santavuori disease (en) View
96817018	en	Synonym (core metadata concept)	Hagberg-Santavuori disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
96819015 - Neuronal ceroid lipofuscinosis, infantile Finnish type (en) View
96819015	en	Synonym (core metadata concept)	Neuronal ceroid lipofuscinosis, infantile Finnish type	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
96818011 - Santavuori disease (en) View
96818011	en	Synonym (core metadata concept)	Santavuori disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (818495023) - 58258004 -> 33359002 (116676008) View
116676008 \|Associated morphology (attribute)\|	33359002 \|Degeneration (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12086067020) - 58258004 -> 107669003 (116676008) View
116676008 \|Associated morphology (attribute)\|	107669003 \|Degenerative abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (818493027) - 58258004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (818496024) - 58258004 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (818494022) - 58258004 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (242852023) - 58258004 -> 42012007 (116680003) View
116680003 \|Is a (attribute)\|	42012007 \|Neuronal ceroid lipofuscinosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
42012007 View
42012007	Neuronal ceroid lipofuscinosis (disorder)	Cerebromacular dystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1296784002 View
1296784002	Neuronal ceroid lipofuscinosis type 6a (disorder)	Neuronal ceroid lipofuscinosis type 6a	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783064000 View
783064000	Progressive myoclonic epilepsy type 3 (disorder)	Progressive myoclonic epilepsy type 3	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
14637005 View
14637005	Late-infantile neuronal ceroid lipofuscinosis (disorder)	Bielschowsky-jansky disease	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 (cc792ea3-1872-5f4b-b9d2-528a85fe1e28) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E75.4	TRUE	ALWAYS E75.4	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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