50967008: Gangliosidosis (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\...

\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\gangliosidose (trouble)

\Inborn error of metabolism\Inherited metabolic disorder of nervous system\gangliosidose (trouble)
\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\gangliosidose (trouble)

\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\gangliosidose (trouble)
\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\gangliosidose (trouble)

\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\gangliosidose (trouble)
\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\gangliosidose (trouble)
\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\gangliosidose (trouble)
\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of lipid storage and metabolism\gangliosidose (trouble)

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

\Inherited metabolic disorder of nervous system\gangliosidose (trouble)

\Storage disease\Disorder of lysosomal enzyme\gangliosidose (trouble)

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

Descriptions:

Id Description Lang Type Status Case? Module

437321000241113 gangliosidose (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
788813018 Gangliosidosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
84935014 Gangliosidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
84936010 Gangliosidosis, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
84937018 Ganglioside storage disease, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
84938011 Ganglioside accumulation in nervous tissue lysosomes en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
84939015 Ganglioside storage disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
910891000172119 gangliosidose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
gangliosidose (trouble)	est un(e) (attribut)	Disorder of lysosomal enzyme	true	Inferred relationship	Some
gangliosidose (trouble)	est un(e) (attribut)	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
gangliosidose (trouble)	est un(e) (attribut)	Disorder of lipid storage and metabolism	true	Inferred relationship	Some
gangliosidose (trouble)	localisation d'une constatation (attribut)	système nerveux	true	Inferred relationship	Some	2
gangliosidose (trouble)	survenue (attribut)	congénital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
GM>1< gangliosidosis	est un(e) (attribut)	False	gangliosidose (trouble)	Inferred relationship	Some
gangliosidose à GM2	est un(e) (attribut)	True	gangliosidose (trouble)	Inferred relationship	Some
GM1 gangliosidosis	est un(e) (attribut)	True	gangliosidose (trouble)	Inferred relationship	Some
Ganglioside sialidase deficiency	est un(e) (attribut)	False	gangliosidose (trouble)	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set