111385000: Tay-Sachs disease (disorder)

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

\Genetic disease\Hereditary disease\...

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

\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\Tay-Sachs disease

\Storage disease\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis\Tay-Sachs disease

\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\Tay-Sachs disease

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Tay-Sachs disease

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

\Congenital disease\Inborn error of metabolism\...

\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\Tay-Sachs disease

\Storage disease\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis\Tay-Sachs disease

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

Descriptions:

Id Description Lang Type Status Case? Module

178623012 Tay-Sachs disease en Synonym Active Entire term case sensitive SNOMED CT core module
187763014 Severe hexosaminidase A deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
187764015 TSD en Synonym Active Entire term case sensitive SNOMED CT core module
187765019 Amaurotic familial idiocy en Synonym Active Entire term case insensitive SNOMED CT core module
187766018 Infantile amaurotic familial disease en Synonym Active Entire term case insensitive SNOMED CT core module
189395019 GM>2< gangliosidosis, type 1 en Synonym Active Entire term case sensitive SNOMED CT core module
361785018 Hexosaminidase A deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
630949018 Tay-Sachs disease (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Tay-Sachs disease	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Tay-Sachs disease	Is a	GM2 gangliosidosis	true	Inferred relationship	Existential restriction modifier
Tay-Sachs disease	Finding site	Structure of nervous system	true	Inferred relationship	Existential restriction modifier	2
Tay-Sachs disease	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
B variant hexosaminidase A deficiency	Is a	True	Tay-Sachs disease	Inferred relationship	Existential restriction modifier
B1 variant hexosaminidase A deficiency	Is a	True	Tay-Sachs disease	Inferred relationship	Existential restriction modifier
Tay-Sachs disease, variant AB	Is a	True	Tay-Sachs disease	Inferred relationship	Existential restriction modifier
Family history of Tay-Sachs disease	Associated finding	True	Tay-Sachs disease	Inferred relationship	Existential restriction modifier	1

This concept is not in any reference sets