238024005: B1 variant hexosaminidase A deficiency (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\Tay-Sachs disease\B1 variant hexosaminidase A deficiency

\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis (disorder)\GM2 gangliosidosis\Tay-Sachs disease\B1 variant hexosaminidase A deficiency

\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Gangliosidosis (disorder)\GM2 gangliosidosis\Tay-Sachs disease\B1 variant hexosaminidase A deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Tay-Sachs disease\B1 variant hexosaminidase A deficiency

\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\B1 variant hexosaminidase A deficiency
\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis (disorder)\GM2 gangliosidosis\Tay-Sachs disease\B1 variant hexosaminidase A deficiency

\Disorder of lysosomal enzyme\Gangliosidosis (disorder)\GM2 gangliosidosis\Tay-Sachs disease\B1 variant hexosaminidase A deficiency

\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\B1 variant hexosaminidase A deficiency
\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\B1 variant hexosaminidase A deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis (disorder)\GM2 gangliosidosis\Tay-Sachs disease\B1 variant hexosaminidase A deficiency
\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis (disorder)\GM2 gangliosidosis\Tay-Sachs disease\B1 variant hexosaminidase A deficiency
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Gangliosidosis (disorder)\GM2 gangliosidosis\Tay-Sachs disease\B1 variant hexosaminidase A deficiency
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Gangliosidosis (disorder)\GM2 gangliosidosis\Tay-Sachs disease\B1 variant hexosaminidase A deficiency
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Gangliosidosis (disorder)\GM2 gangliosidosis\Tay-Sachs disease\B1 variant hexosaminidase A deficiency

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
B1 variant hexosaminidase A deficiency	Is a	Tay-Sachs disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
B1 variant hexosaminidase A deficiency	Finding site	Nervous system structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
B1 variant hexosaminidase A deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
356761010	B1 variant hexosaminidase A deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
626845014	B1 variant hexosaminidase A deficiency (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
356761010	B1 variant hexosaminidase A deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
626845014	B1 variant hexosaminidase A deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
626845014	B1 variant hexosaminidase A deficiency (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3432001001000117	Tay-Sachs-Krankheit, B1-Variante	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5761961000241113	déficit en hexosaminidase A de variant B1	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5761971000241117	maladie de Tay-Sachs de variant B1	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5761961000241113	déficit en hexosaminidase A de variant B1	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5761971000241117	maladie de Tay-Sachs de variant B1	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3432001001000117	Tay-Sachs-Krankheit, B1-Variante	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module