238020001: Total hexosaminidase deficiency - adult (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)\...

\Adult chronic GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - adult

\Sandhoff disease\Total hexosaminidase deficiency - adult

\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis\GM2 gangliosidosis (disorder)\...

\Adult chronic GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - adult

\Sandhoff disease\Total hexosaminidase deficiency - adult

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

\Adult chronic GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - adult

\Sandhoff disease\Total hexosaminidase deficiency - adult

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)\Adult chronic GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - adult
\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)\Sandhoff disease\Total hexosaminidase deficiency - adult
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)\Adult chronic GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - adult
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)\Sandhoff disease\Total hexosaminidase deficiency - adult

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)\Adult chronic GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - adult
\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)\Sandhoff disease\Total hexosaminidase deficiency - adult
\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis\GM2 gangliosidosis (disorder)\Adult chronic GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - adult
\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis\GM2 gangliosidosis (disorder)\Sandhoff disease\Total hexosaminidase deficiency - adult
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Gangliosidosis\GM2 gangliosidosis (disorder)\Adult chronic GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - adult
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Gangliosidosis\GM2 gangliosidosis (disorder)\Sandhoff disease\Total hexosaminidase deficiency - adult
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis (disorder)\Adult chronic GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - adult
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis (disorder)\Sandhoff disease\Total hexosaminidase deficiency - adult
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Gangliosidosis\GM2 gangliosidosis (disorder)\Adult chronic GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - adult
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Gangliosidosis\GM2 gangliosidosis (disorder)\Sandhoff disease\Total hexosaminidase deficiency - adult

\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)\Adult chronic GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - adult
\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)\Sandhoff disease\Total hexosaminidase deficiency - adult
\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis\GM2 gangliosidosis (disorder)\Adult chronic GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - adult
\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis\GM2 gangliosidosis (disorder)\Sandhoff disease\Total hexosaminidase deficiency - adult
\Congenital disease (disorder)\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis (disorder)\Adult chronic GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - adult
\Congenital disease (disorder)\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis (disorder)\Sandhoff disease\Total hexosaminidase deficiency - adult

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

356757016 Total hexosaminidase deficiency - adult en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626840016 Total hexosaminidase deficiency - adult (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

792831000052118 adult total hexosaminidasbrist sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Total hexosaminidase deficiency - adult	Is a	Sandhoff disease	true	Inferred relationship	Some
Total hexosaminidase deficiency - adult	Is a	Adult chronic GM2 gangliosidosis (disorder)	true	Inferred relationship	Some
Total hexosaminidase deficiency - adult	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	2
Total hexosaminidase deficiency - adult	Occurrence	Adulthood	true	Inferred relationship	Some	1
Total hexosaminidase deficiency - adult	Occurrence	Congenital	false	Inferred relationship	Some	3
Total hexosaminidase deficiency - adult	Occurrence	Congenital	true	Inferred relationship	Some	2
Total hexosaminidase deficiency - adult	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets