62440002: Infantile GM2 gangliosidosis (disorder)

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

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

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

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

\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\Infantile GM2 gangliosidosis (disorder)
\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\Infantile GM2 gangliosidosis (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis (disorder)\GM2 gangliosidosis\Infantile GM2 gangliosidosis (disorder)
\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis (disorder)\GM2 gangliosidosis\Infantile GM2 gangliosidosis (disorder)
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Gangliosidosis (disorder)\GM2 gangliosidosis\Infantile GM2 gangliosidosis (disorder)
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Gangliosidosis (disorder)\GM2 gangliosidosis\Infantile GM2 gangliosidosis (disorder)
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Gangliosidosis (disorder)\GM2 gangliosidosis\Infantile 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
Infantile GM2 gangliosidosis (disorder)	Is a	GM2 gangliosidosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Infantile GM2 gangliosidosis (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Infantile GM2 gangliosidosis (disorder)	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
Total hexosaminidase deficiency - infantile	Is a	True	Infantile GM2 gangliosidosis (disorder)	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
4553715010	Infantile GM2 gangliosidosis (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4553717019	Infantile GM2 gangliosidosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
103780014	Infantile GM>2< gangliosidosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
801612016	Infantile GM>2< gangliosidosis (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2989670010	Infantile GM 2 gangliosidosis (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2989680014	Infantile GM 2 gangliosidosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4553715010	Infantile GM2 gangliosidosis (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4553717019	Infantile GM2 gangliosidosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6240481000241115	gangliosidose à GM2 chez le bébé de moins d'un an	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6240491000241118	gangliosidose à GM2 chez le nourrisson	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6240481000241115	gangliosidose à GM2 chez le bébé de moins d'un an	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6240491000241118	gangliosidose à GM2 chez le nourrisson	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module