33316007: GM2 gangliosidosis (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\GM2 gangliosidosis (disorder)

\Storage disease\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis (disorder)

\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)

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

\Congenital disease (disorder)\Inborn error of metabolism\...

\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)

\Storage disease\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis (disorder)

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

55591012 Deficiency of beta-N-acetylhexosaminidase isoenzymes en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

485484018 GM2 gangliosidosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4553711018 GM2 gangliosidosis (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

1009151000172119 gangliosidose à GM2 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
GM2 gangliosidosis (disorder)	Is a	Gangliosidosis	true	Inferred relationship	Some
GM2 gangliosidosis (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
GM2 gangliosidosis (disorder)	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Tay-Sachs disease	Is a	True	GM2 gangliosidosis (disorder)	Inferred relationship	Some
Sandhoff disease	Is a	True	GM2 gangliosidosis (disorder)	Inferred relationship	Some
Adult chronic GM2 gangliosidosis (disorder)	Is a	True	GM2 gangliosidosis (disorder)	Inferred relationship	Some
Infantile GM2 gangliosidosis (disorder)	Is a	True	GM2 gangliosidosis (disorder)	Inferred relationship	Some
Juvenile GM2 gangliosidosis (disorder)	Is a	True	GM2 gangliosidosis (disorder)	Inferred relationship	Some
Retinal dystrophy due to GM2 gangliosidosis	Due to	True	GM2 gangliosidosis (disorder)	Inferred relationship	Some	2
Dystonia due to GM2 gangliosidosis	Due to	True	GM2 gangliosidosis (disorder)	Inferred relationship	Some	2

Reference Sets