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Terminology chevron_right Concepts chevron_right 5963005

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Component

5963005

The component that hold information about this concept.

Fully Specified Name (FSN)

Subacute neuronopathic gaucher's disease (disorder)

Shortest Term

Juvenile gaucher 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

Subacute neuronopathic gaucher's disease (disorder)

SCTID: 5963005, Primitive, Active

5963005|Subacute neuronopathic gaucher's disease (disorder)|

en Glucosylceramidase deficiency, subacute type
en Glucocerebrosidase deficiency type iii
en Juvenile gaucher disease
en Norrbottnian gaucher disease
en Subacute neuronopathic gaucher disease
en Gaucher's disease, type iii
en Juvenile gaucher's disease
en Subacute neuronopathic gaucher's disease
en Subacute neuronopathic gaucher's disease (disorder)

Expression

5963005 |Subacute neuronopathic gaucher's disease (disorder)|
 <<< 190794006 |Glucosylceramide beta-glucosidase deficiency (disorder)| + 
128190004 |Inherited metabolic disorder of nervous system (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
10917018 - Glucosylceramidase deficiency, subacute type (en) View
10917018	en	Synonym (core metadata concept)	Glucosylceramidase deficiency, subacute type	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1231983018 - Glucocerebrosidase deficiency type III (en) View
1231983018	en	Synonym (core metadata concept)	Glucocerebrosidase deficiency type III	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
1231982011 - Juvenile Gaucher disease (en) View
1231982011	en	Synonym (core metadata concept)	Juvenile Gaucher disease	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
1231980015 - Norrbottnian Gaucher disease (en) View
1231980015	en	Synonym (core metadata concept)	Norrbottnian Gaucher disease	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
1231981016 - Subacute neuronopathic Gaucher disease (en) View
1231981016	en	Synonym (core metadata concept)	Subacute neuronopathic Gaucher disease	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
10918011 - Gaucher's disease, type III (en) View
10918011	en	Synonym (core metadata concept)	Gaucher's disease, type III	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
10916010 - Juvenile Gaucher's disease (en) View
10916010	en	Synonym (core metadata concept)	Juvenile Gaucher's disease	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
10915014 - Subacute neuronopathic Gaucher's disease (en) View
10915014	en	Synonym (core metadata concept)	Subacute neuronopathic Gaucher's disease	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
798494018 - Subacute neuronopathic Gaucher's disease (disorder) (en) View
798494018	en	Fully specified name (core metadata concept)	Subacute neuronopathic Gaucher's disease (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (822287026) - 5963005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (822288020) - 5963005 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (245082021) - 5963005 -> 190794006 (116680003) View
116680003 \|Is a (attribute)\|	190794006 \|Glucosylceramide beta-glucosidase deficiency (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (245083027) - 5963005 -> 128190004 (116680003) View
116680003 \|Is a (attribute)\|	128190004 \|Inherited metabolic disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
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
190794006 View
190794006	Glucosylceramide beta-glucosidase deficiency (disorder)	Gaucher disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1156813002 View
1156813002	Gaucher disease with ophthalmoplegia and cardiovascular calcification (disorder)	Gaucher-like 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 (8bd35b47-ebf2-520e-9547-01c4a339c75a) 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)\|

Terminology chevron_right Concepts chevron_right 5963005

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