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Terminology chevron_right Concepts chevron_right 50967008

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Component

50967008

The component that hold information about this concept.

Fully Specified Name (FSN)

Gangliosidosis (disorder)

Shortest Term

Gangliosidosis

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

Gangliosidosis (disorder)

SCTID: 50967008, Primitive, Active

50967008|Gangliosidosis (disorder)|

en Ganglioside accumulation in nervous tissue lysosomes
en Ganglioside storage disease
en Gangliosidosis
en Gangliosidosis (disorder)

Expression

50967008 |Gangliosidosis (disorder)|
 <<< 23585005 |Disorder of lysosomal enzyme (disorder)| + 
128190004 |Inherited metabolic disorder of nervous system (disorder)| + 
238017009 |Disorder of lipid storage and metabolism (disorder)| + 
28821000119102 |Lysosomal storage disease (disorder)| : 
        { 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
84938011 - Ganglioside accumulation in nervous tissue lysosomes (en) View
84938011	en	Synonym (core metadata concept)	Ganglioside accumulation in nervous tissue lysosomes	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
84939015 - Ganglioside storage disease (en) View
84939015	en	Synonym (core metadata concept)	Ganglioside storage disease	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
84935014 - Gangliosidosis (en) View
84935014	en	Synonym (core metadata concept)	Gangliosidosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
788813018 - Gangliosidosis (disorder) (en) View
788813018	en	Fully specified name (core metadata concept)	Gangliosidosis (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
84937018 - Ganglioside storage disease, NOS (en) View
84937018	en	Synonym (core metadata concept)	Ganglioside storage disease, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
84936010 - Gangliosidosis, NOS (en) View
84936010	en	Synonym (core metadata concept)	Gangliosidosis, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15686649022) - 50967008 -> 28821000119102 (116680003) View
116680003 \|Is a (attribute)\|	28821000119102 \|Lysosomal storage disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (799110020) - 50967008 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (799111024) - 50967008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (230924020) - 50967008 -> 23585005 (116680003) View
116680003 \|Is a (attribute)\|	23585005 \|Disorder of lysosomal enzyme (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (230925021) - 50967008 -> 128190004 (116680003) View
116680003 \|Is a (attribute)\|	128190004 \|Inherited metabolic disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (230926022) - 50967008 -> 238017009 (116680003) View
116680003 \|Is a (attribute)\|	238017009 \|Disorder of lipid storage and metabolism (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
23585005 View
23585005	Disorder of lysosomal enzyme (disorder)	Lysosomal enzyme defect	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238017009 View
238017009	Disorder of lipid storage and metabolism (disorder)	Disorder of lipid storage and metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
33316007 View
33316007	Gm 2 gangliosidosis (disorder)	Gm2 gangliosidosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238025006 View
238025006	Gm1 gangliosidosis (disorder)	Gm1 gangliosidosis	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 (edfe1e0f-227c-5ce7-bc9c-05c465bb0d6b) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E75.1	TRUE	ALWAYS E75.1	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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