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111385000: ziekte van Tay-Sachs (aandoening)

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\GM2 gangliosidosis (disorder)\Tay-Sachs disease

\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis\GM2 gangliosidosis (disorder)\Tay-Sachs disease

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

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\...

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

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

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

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	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Tay-Sachs disease	Is a	GM2 gangliosidosis (disorder)	true	Inferred relationship	Some
Tay-Sachs disease	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	2
Tay-Sachs disease	Occurrence	Congenital	true	Inferred relationship	Some	1

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

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
178623012	Tay-Sachs disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
187763014	Severe hexosaminidase A deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
187765019	Amaurotic familial idiocy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
187766018	Infantile amaurotic familial disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
361785018	Hexosaminidase A deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
630949018	Tay-Sachs disease (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5244086013	GM2 gangliosidosis, B, B1 variant	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
364071000146119	ziekte van Tay-Sachs	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
364081000146117	ziekte van Tay-Sachs (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10195351000146111	Ernstige, erfelijke en aangeboren stofwisselingsziekte veroorzaakt door een tekort aan activiteit van het enzym hexosaminidase A; bepaalde vetten stapelen zich op in de hersenen.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)