dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 23849003

Production

add

Component

23849003

The component that hold information about this concept.

Fully Specified Name (FSN)

Sandhoff disease (disorder)

Shortest Term

O variant

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

Sandhoff disease (disorder)

SCTID: 23849003, Primitive, Active

23849003|Sandhoff disease (disorder)|

en Total hexosaminidase deficiency
en Sandhoff disease (disorder)
en Gm>2< gangliosidosis, type 2
en Hexosaminidase a and b deficiency
en O variant
en Sandhoff disease

Expression

23849003 |Sandhoff disease (disorder)|
 <<< 33316007 |Gm 2 gangliosidosis (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
481740011 - Total hexosaminidase deficiency (en) View
481740011	en	Synonym (core metadata concept)	Total hexosaminidase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
753417017 - Sandhoff disease (disorder) (en) View
753417017	en	Fully specified name (core metadata concept)	Sandhoff disease (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
40057012 - GM>2< gangliosidosis, type 2 (en) View
40057012	en	Synonym (core metadata concept)	GM>2< gangliosidosis, type 2	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
40056015 - Hexosaminidase A and B deficiency (en) View
40056015	en	Synonym (core metadata concept)	Hexosaminidase A and B deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
40058019 - Hexosaminidase A AND B deficiency (en) View
40058019	en	Synonym (core metadata concept)	Hexosaminidase A AND B deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
481741010 - O variant (en) View
481741010	en	Synonym (core metadata concept)	O variant	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
40055016 - Sandhoff disease (en) View
40055016	en	Synonym (core metadata concept)	Sandhoff disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (731784028) - 23849003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (731785027) - 23849003 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (186899027) - 23849003 -> 33316007 (116680003) View
116680003 \|Is a (attribute)\|	33316007 \|Gm 2 gangliosidosis (disorder)\|	0	900000000000011006 \|Inferred relationship (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

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
238018004 View
238018004	Total hexosaminidase deficiency - infantile (disorder)	Total hexosaminidase deficiency - infantile	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238019007 View
238019007	Total hexosaminidase deficiency - juvenile (disorder)	Total hexosaminidase deficiency - juvenile	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238020001 View
238020001	Total hexosaminidase deficiency - adult (disorder)	Total hexosaminidase deficiency - adult	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 (de02c2c9-4fa8-53ec-8eae-cf8aafd5ce13) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E75.0	TRUE	ALWAYS E75.0	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 23849003

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches