62440002: Infantile 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\Infantile GM2 gangliosidosis

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

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

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

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

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

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

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

103780014 Infantile GM>2< gangliosidosis en Synonym Inactive Only initial character case insensitive SNOMED CT core module
801612016 Infantile GM>2< gangliosidosis (disorder) en Fully specified name Inactive Only initial character case insensitive SNOMED CT core module
2989670010 Infantile GM 2 gangliosidosis (disorder) en Fully specified name Inactive Only initial character case insensitive SNOMED CT core module
2989680014 Infantile GM 2 gangliosidosis en Synonym Inactive Only initial character case insensitive SNOMED CT core module
4553715010 Infantile GM2 gangliosidosis (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
4553717019 Infantile GM2 gangliosidosis en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Total hexosaminidase deficiency - infantile	Is a	True	Infantile GM2 gangliosidosis	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets