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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 (disorder)\GM2 gangliosidosis

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

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

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

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

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

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis (disorder)\GM2 gangliosidosis
\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis (disorder)\GM2 gangliosidosis
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Gangliosidosis (disorder)\GM2 gangliosidosis
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Gangliosidosis (disorder)\GM2 gangliosidosis
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Gangliosidosis (disorder)\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
GM2 gangliosidosis	Is a	Gangliosidosis (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
GM2 gangliosidosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
GM2 gangliosidosis	Finding site	Nervous system structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

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

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
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
4553711018	GM2 gangliosidosis (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
55589016	GM>2< gangliosidosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (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
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	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
764704012	GM>2< gangliosidosis (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2989571016	GM 2 gangliosidosis (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2989659015	GM 2 gangliosidosis	en	Synonym (core metadata concept)	Active	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
3454501001000115	GM2-Gangliosidose	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1009151000172119	gangliosidose à GM2	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1009151000172119	gangliosidose à GM2	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3454501001000115	GM2-Gangliosidose	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module