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Terminology chevron_right Concepts chevron_right 42012007

Production

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Component

42012007

The component that hold information about this concept.

Fully Specified Name (FSN)

Neuronal ceroid lipofuscinosis (disorder)

Shortest Term

Cerebromacular dystrophy

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 (disorder)

SCTID: 42012007, Primitive, Active

42012007|Neuronal ceroid lipofuscinosis (disorder)|

en Cerebromacular degeneration
en Cerebromacular dystrophy
en Neuronal ceroid lipofuscinosis
en Neuronal ceroid lipofuscinosis (disorder)
en Pigmentary retinal lipoid neuronal heredodegeneration

Expression

42012007 |Neuronal ceroid lipofuscinosis (disorder)|
 <<< 14210003 |Lipofuscinosis (disorder)| + 
362975008 |Degenerative disorder (disorder)| + 
128190004 |Inherited metabolic disorder of nervous system (disorder)| + 
28821000119102 |Lysosomal storage disease (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
70122015 - Cerebromacular degeneration (en) View
70122015	en	Synonym (core metadata concept)	Cerebromacular degeneration	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
70123013 - Cerebromacular dystrophy (en) View
70123013	en	Synonym (core metadata concept)	Cerebromacular dystrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
70121010 - Neuronal ceroid lipofuscinosis (en) View
70121010	en	Synonym (core metadata concept)	Neuronal ceroid lipofuscinosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
778865010 - Neuronal ceroid lipofuscinosis (disorder) (en) View
778865010	en	Fully specified name (core metadata concept)	Neuronal ceroid lipofuscinosis (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
70124019 - Pigmentary retinal lipoid neuronal heredodegeneration (en) View
70124019	en	Synonym (core metadata concept)	Pigmentary retinal lipoid neuronal heredodegeneration	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15686650022) - 42012007 -> 28821000119102 (116680003) View
116680003 \|Is a (attribute)\|	28821000119102 \|Lysosomal storage disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (777252020) - 42012007 -> 33359002 (116676008) View
116676008 \|Associated morphology (attribute)\|	33359002 \|Degeneration (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12080521020) - 42012007 -> 107669003 (116676008) View
116676008 \|Associated morphology (attribute)\|	107669003 \|Degenerative abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (777249028) - 42012007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (777250028) - 42012007 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (777251029) - 42012007 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (216551026) - 42012007 -> 128190004 (116680003) View
116680003 \|Is a (attribute)\|	128190004 \|Inherited metabolic disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (216552022) - 42012007 -> 14210003 (116680003) View
116680003 \|Is a (attribute)\|	14210003 \|Lipofuscinosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (216553028) - 42012007 -> 362975008 (116680003) View
116680003 \|Is a (attribute)\|	362975008 \|Degenerative disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
28821000119102 View
28821000119102	Lysosomal storage disease (disorder)	Lysosomal storage disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
128190004 View
128190004	Inherited metabolic disorder of nervous system (disorder)	Inherited metabolic disorder of nervous system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
14210003 View
14210003	Lipofuscinosis (disorder)	Lipofuscinosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
362975008 View
362975008	Degenerative disorder (disorder)	Degenerative disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
789657008 View
789657008	Atpase cation transporting 13a2 related juvenile neuronal ceroid lipofuscinosis (disorder)	Cln12 disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720830009 View
720830009	Neuronal ceroid lipofuscinosis due to deficiency of cathepsin d (disorder)	Neuronal ceroid lipofuscinosis 10	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
703526007 View
703526007	Neuronal ceroid lipofuscinosis 8 (disorder)	Northern epilepsy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
58258004 View
58258004	Infantile neuronal ceroid lipofuscinosis (disorder)	Santavuori disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
61663001 View
61663001	Juvenile neuronal ceroid lipofuscinosis (disorder)	Batten-mayou disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
62009002 View
62009002	Adult neuronal ceroid lipofuscinosis (disorder)	Kufs' 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 (541eef7e-6bd7-5f56-a192-c30fe2c068b6) 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)\|

Terminology chevron_right Concepts chevron_right 42012007

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