71253000: Tay-Sachs disease, variant AB (disorder)

\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Gangliosidosis (disorder)\GM2 gangliosidosis\Tay-Sachs disease\Tay-Sachs disease, variant AB

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Tay-Sachs disease\Tay-Sachs disease, variant AB

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

\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis (disorder)\GM2 gangliosidosis\Tay-Sachs disease\Tay-Sachs disease, variant AB
\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis (disorder)\GM2 gangliosidosis\Tay-Sachs disease\Tay-Sachs disease, variant AB

\Disorder of lysosomal enzyme\Gangliosidosis (disorder)\GM2 gangliosidosis\Tay-Sachs disease\Tay-Sachs disease, variant AB

\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\Tay-Sachs disease\Tay-Sachs disease, variant AB
\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\Tay-Sachs disease\Tay-Sachs disease, variant AB

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

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
Tay-Sachs disease, variant AB	Is a	Tay-Sachs disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Tay-Sachs disease, variant AB	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Tay-Sachs disease, variant AB	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

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
118325010	Tay-Sachs disease, variant AB	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
118326011	Hexosaminidase activator deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
118327019	GM>2< gangliosidosis, type AB	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
811399010	Tay-Sachs disease, variant AB (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1233370019	GM2 activator deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1233371015	AB variant	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
118325010	Tay-Sachs disease, variant AB	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
118326011	Hexosaminidase activator deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
118326011	Hexosaminidase activator deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
118327019	GM>2< gangliosidosis, type AB	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
811399010	Tay-Sachs disease, variant AB (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
811399010	Tay-Sachs disease, variant AB (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1233370019	GM2 activator deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1233370019	GM2 activator deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1233371015	AB variant	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1233371015	AB variant	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3416951001000114	GM2-Gangliosidose, AB-Variante	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3416951001000114	GM2-Gangliosidose, AB-Variante	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module