23849003: Sandhoff disease (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)\Sandhoff disease

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

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

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

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

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

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

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

40055016 Sandhoff disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

40057012 GM>2< gangliosidosis, type 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

40058019 Hexosaminidase A AND B deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

481740011 Total hexosaminidase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

481741010 O variant en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

753417017 Sandhoff disease (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

642881000172112 maladie de Sandhoff 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
Sandhoff disease	Is a	GM2 gangliosidosis (disorder)	true	Inferred relationship	Some
Sandhoff disease	Occurrence	Congenital	true	Inferred relationship	Some	1
Sandhoff disease	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Total hexosaminidase deficiency - infantile	Is a	True	Sandhoff disease	Inferred relationship	Some
Total hexosaminidase deficiency - juvenile	Is a	True	Sandhoff disease	Inferred relationship	Some
Total hexosaminidase deficiency - adult	Is a	True	Sandhoff disease	Inferred relationship	Some

This concept is not in any reference sets