23849003: Sandhoff disease (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\Sandhoff disease

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

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

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

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

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

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

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

40055016 Sandhoff disease en Synonym Active Entire term case sensitive SNOMED CT core module
40056015 Hexosaminidase A and B deficiency en Synonym Inactive Only initial character case insensitive SNOMED CT core module
40057012 GM>2< gangliosidosis, type 2 en Synonym Active Entire term case sensitive SNOMED CT core module
40058019 Hexosaminidase A AND B deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
481740011 Total hexosaminidase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
481741010 O variant en Synonym Active Entire term case sensitive SNOMED CT core module
753417017 Sandhoff disease (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
Sandhoff disease	Is a	GM2 gangliosidosis	true	Inferred relationship	Existential restriction modifier
Sandhoff disease	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Sandhoff disease	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	Sandhoff disease	Inferred relationship	Existential restriction modifier
Total hexosaminidase deficiency - juvenile	Is a	True	Sandhoff disease	Inferred relationship	Existential restriction modifier
Total hexosaminidase deficiency - adult	Is a	True	Sandhoff disease	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets