9537004: Juvenile GM2 gangliosidosis (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease\...

\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis (disorder)\GM2 gangliosidosis\Juvenile GM2 gangliosidosis
\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis (disorder)\GM2 gangliosidosis\Juvenile GM2 gangliosidosis

\Disorder of lysosomal enzyme\Gangliosidosis (disorder)\GM2 gangliosidosis\Juvenile GM2 gangliosidosis

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

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

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
Juvenile GM2 gangliosidosis	Is a	GM2 gangliosidosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Juvenile GM2 gangliosidosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Juvenile GM2 gangliosidosis	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Juvenile GM2 gangliosidosis	Occurrence	Childhood	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Juvenile GM2 gangliosidosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Juvenile GM2 gangliosidosis	Finding site	Nervous system structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Total hexosaminidase deficiency - juvenile	Is a	True	Juvenile GM2 gangliosidosis	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
16686014	GM>2< gangliosidosis, type 3	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4553718012	Juvenile GM2 gangliosidosis (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4553719016	Juvenile GM2 gangliosidosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
16685013	Juvenile GM>2< gangliosidosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
16686014	GM>2< gangliosidosis, type 3	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
839510019	Juvenile GM>2< gangliosidosis (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2989660013	Juvenile GM 2 gangliosidosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2989676016	Juvenile GM 2 gangliosidosis (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4553718012	Juvenile GM2 gangliosidosis (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4553719016	Juvenile GM2 gangliosidosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6369521000241111	gangliosidose juvénile à GM2	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6369521000241111	gangliosidose juvénile à GM2	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module