23849003: Sandhoff disease (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)\gangliosidose à GM2\Sandhoff disease

\Inborn error of metabolism\Inherited metabolic disorder of nervous system\gangliosidose (trouble)\gangliosidose à GM2\Sandhoff disease
\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\gangliosidose (trouble)\gangliosidose à GM2\Sandhoff disease

\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\gangliosidose (trouble)\gangliosidose à GM2\Sandhoff disease
\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\gangliosidose (trouble)\gangliosidose à GM2\Sandhoff disease
\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\gangliosidose (trouble)\gangliosidose à GM2\Sandhoff disease
\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of lipid storage and metabolism\gangliosidose (trouble)\gangliosidose à GM2\Sandhoff disease

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

\Inherited metabolic disorder of nervous system\gangliosidose (trouble)\gangliosidose à GM2\Sandhoff disease

\Storage disease\Disorder of lysosomal enzyme\gangliosidose (trouble)\gangliosidose à GM2\Sandhoff disease

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

40055016 Sandhoff disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

40057012 GM>2< gangliosidosis, type 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

40058019 Hexosaminidase A AND B deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

407781000241119 maladie de Sandhoff (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

481740011 Total hexosaminidase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

481741010 O variant en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

642881000172112 maladie de Sandhoff fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

753417017 Sandhoff disease (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Sandhoff disease	est un(e) (attribut)	gangliosidose à GM2	true	Inferred relationship	Some
Sandhoff disease	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Sandhoff disease	localisation d'une constatation (attribut)	système nerveux	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Total hexosaminidase deficiency - infantile	est un(e) (attribut)	True	Sandhoff disease	Inferred relationship	Some
Total hexosaminidase deficiency - juvenile	est un(e) (attribut)	True	Sandhoff disease	Inferred relationship	Some
Total hexosaminidase deficiency - adult	est un(e) (attribut)	True	Sandhoff disease	Inferred relationship	Some

This concept is not in any reference sets