9537004: Juvenile 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\Juvenile GM2 gangliosidosis

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

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

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

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

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

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

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

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

16686014 GM>2< gangliosidosis, type 3 en Synonym Active Case sensitive SNOMED CT core

4553718012 Juvenile GM2 gangliosidosis (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

4553719016 Juvenile GM2 gangliosidosis en Synonym Active Initial character case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Juvenile GM2 gangliosidosis	Occurrence	Congenital	true	Inferred relationship	Some	2
Juvenile GM2 gangliosidosis	Finding site	Structure of nervous system	true	Inferred relationship	Some	3
Juvenile GM2 gangliosidosis	Occurrence	Childhood	true	Inferred relationship	Some	1
Juvenile GM2 gangliosidosis	Is a	GM2 gangliosidosis	true	Inferred relationship	Some
Juvenile GM2 gangliosidosis	Occurrence	Congenital	false	Inferred relationship	Some	3
Juvenile GM2 gangliosidosis	Finding site	Structure of nervous system	false	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Total hexosaminidase deficiency - juvenile	Is a	True	Juvenile GM2 gangliosidosis	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set