33316007: GM2 gangliosidosis (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\...

\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)

\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis\GM2 gangliosidosis (disorder)

\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)
\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis\GM2 gangliosidosis (disorder)
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Gangliosidosis\GM2 gangliosidosis (disorder)
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis (disorder)
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Gangliosidosis\GM2 gangliosidosis (disorder)

\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)
\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis\GM2 gangliosidosis (disorder)
\Congenital disease (disorder)\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
GM2 gangliosidosis (disorder)	Is a	Gangliosidosis	true	Inferred relationship	Some
GM2 gangliosidosis (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
GM2 gangliosidosis (disorder)	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Tay-Sachs disease	Is a	True	GM2 gangliosidosis (disorder)	Inferred relationship	Some
Sandhoff disease	Is a	True	GM2 gangliosidosis (disorder)	Inferred relationship	Some
Adult chronic GM2 gangliosidosis (disorder)	Is a	True	GM2 gangliosidosis (disorder)	Inferred relationship	Some
Infantile GM2 gangliosidosis (disorder)	Is a	True	GM2 gangliosidosis (disorder)	Inferred relationship	Some
Juvenile GM2 gangliosidosis (disorder)	Is a	True	GM2 gangliosidosis (disorder)	Inferred relationship	Some
Retinal dystrophy due to GM2 gangliosidosis	Due to	True	GM2 gangliosidosis (disorder)	Inferred relationship	Some	2
Dystonia due to GM2 gangliosidosis	Due to	True	GM2 gangliosidosis (disorder)	Inferred relationship	Some	2

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
55589016	GM>2< gangliosidosis	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
55590013	GM>2< gangliosidosis, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
55591012	Deficiency of beta-N-acetylhexosaminidase isoenzymes	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
485484018	GM2 gangliosidosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
764704012	GM>2< gangliosidosis (disorder)	en	Fully specified name	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
2989571016	GM 2 gangliosidosis (disorder)	en	Fully specified name	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
2989659015	GM 2 gangliosidosis	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
4553711018	GM2 gangliosidosis (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1009151000172119	gangliosidose à GM2	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
942121000172116	GM2-gangliosidose	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)