33316007: GM2 gangliosidosis (disorder)

SNOMED CT Concept\Clinical finding\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\...

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

\Storage disease\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis

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

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

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

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

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

\Storage disease\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis

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

Descriptions:

Id Description Lang Type Status Case? Module

55589016 GM>2< gangliosidosis en Synonym Inactive Entire term case sensitive SNOMED CT core module
55590013 GM>2< gangliosidosis, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
55591012 Deficiency of beta-N-acetylhexosaminidase isoenzymes en Synonym Active Only initial character case insensitive SNOMED CT core module
485484018 GM2 gangliosidosis en Synonym Active Entire term case sensitive SNOMED CT core module
764704012 GM>2< gangliosidosis (disorder) en Fully specified name Inactive Entire term case sensitive SNOMED CT core module
2989571016 GM 2 gangliosidosis (disorder) en Fully specified name Inactive Entire term case sensitive SNOMED CT core module
2989659015 GM 2 gangliosidosis en Synonym Inactive Entire term case sensitive SNOMED CT core module
4553711018 GM2 gangliosidosis (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
GM2 gangliosidosis	Is a	Gangliosidosis	true	Inferred relationship	Existential restriction modifier
GM2 gangliosidosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
GM2 gangliosidosis	Finding site	Structure of nervous system	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Tay-Sachs disease	Is a	True	GM2 gangliosidosis	Inferred relationship	Existential restriction modifier
Sandhoff disease	Is a	True	GM2 gangliosidosis	Inferred relationship	Existential restriction modifier
Adult chronic GM2 gangliosidosis	Is a	True	GM2 gangliosidosis	Inferred relationship	Existential restriction modifier
Infantile GM2 gangliosidosis	Is a	True	GM2 gangliosidosis	Inferred relationship	Existential restriction modifier
Juvenile GM2 gangliosidosis	Is a	True	GM2 gangliosidosis	Inferred relationship	Existential restriction modifier
Dystrophy of retina due to GM2 gangliosidosis	Due to	True	GM2 gangliosidosis	Inferred relationship	Existential restriction modifier	2
Dystonia due to GM2 gangliosidosis	Due to	True	GM2 gangliosidosis	Inferred relationship	Existential restriction modifier	2

This concept is not in any reference sets