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Terminology chevron_right Concepts chevron_right 111385000

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Component

111385000

The component that hold information about this concept.

Fully Specified Name (FSN)

Tay-sachs disease (disorder)

Shortest Term

Tsd

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

Tay-sachs disease (disorder)

SCTID: 111385000, Primitive, Active

111385000|Tay-sachs disease (disorder)|

en Gm2 gangliosidosis, b, b1 variant
en Amaurotic familial idiocy
en Infantile amaurotic familial disease
en Tay-sachs disease (disorder)
en Hexosaminidase a deficiency
en Severe hexosaminidase a deficiency
en Tay-sachs disease

Expression

111385000 |Tay-sachs disease (disorder)|
 <<< 85995004 |Autosomal recessive hereditary disorder (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
5244086013 - GM2 gangliosidosis, B, B1 variant (en) View
5244086013	en	Synonym (core metadata concept)	GM2 gangliosidosis, B, B1 variant	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
189395019 - GM>2< gangliosidosis, type 1 (en) View
189395019	en	Synonym (core metadata concept)	GM>2< gangliosidosis, type 1	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
187764015 - TSD (en) View
187764015	en	Synonym (core metadata concept)	TSD	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
187765019 - Amaurotic familial idiocy (en) View
187765019	en	Synonym (core metadata concept)	Amaurotic familial idiocy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
187766018 - Infantile amaurotic familial disease (en) View
187766018	en	Synonym (core metadata concept)	Infantile amaurotic familial disease	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
630949018 - Tay-Sachs disease (disorder) (en) View
630949018	en	Fully specified name (core metadata concept)	Tay-Sachs disease (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
361785018 - Hexosaminidase A deficiency (en) View
361785018	en	Synonym (core metadata concept)	Hexosaminidase A deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
187763014 - Severe hexosaminidase A deficiency (en) View
187763014	en	Synonym (core metadata concept)	Severe hexosaminidase A deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
178623012 - Tay-Sachs disease (en) View
178623012	en	Synonym (core metadata concept)	Tay-Sachs disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (545817029) - 111385000 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (545818023) - 111385000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (59605022) - 111385000 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (59606023) - 111385000 -> 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
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
71253000 View
71253000	Tay-sachs disease, variant ab (disorder)	Ab variant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
192787004 View
192787004	B variant hexosaminidase a deficiency (disorder)	B variant hexosaminidase a deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238024005 View
238024005	B1 variant hexosaminidase a deficiency (disorder)	B1 variant hexosaminidase a deficiency	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 (46dc6643-6c7f-5e3e-881b-9ee791f9d8ba) 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)\|

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