238019007: Total hexosaminidase deficiency - juvenile (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\Total hexosaminidase deficiency - juvenile

\Juvenile GM2 gangliosidosis\Total hexosaminidase deficiency - juvenile

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

\Sandhoff disease\Total hexosaminidase deficiency - juvenile

\Juvenile GM2 gangliosidosis\Total hexosaminidase deficiency - juvenile

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

\Sandhoff disease\Total hexosaminidase deficiency - juvenile

\Juvenile GM2 gangliosidosis\Total hexosaminidase deficiency - juvenile

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\Sandhoff disease\Total hexosaminidase deficiency - juvenile
\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\Total hexosaminidase deficiency - juvenile
\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\Sandhoff disease\Total hexosaminidase deficiency - juvenile
\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\Juvenile GM2 gangliosidosis\Total hexosaminidase deficiency - juvenile

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

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

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

\Sandhoff disease\Total hexosaminidase deficiency - juvenile

\Juvenile GM2 gangliosidosis\Total hexosaminidase deficiency - juvenile

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

\Sandhoff disease\Total hexosaminidase deficiency - juvenile

\Juvenile GM2 gangliosidosis\Total hexosaminidase deficiency - juvenile

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

Descriptions:

Id Description Lang Type Status Case? Module

356756013 Total hexosaminidase deficiency - juvenile en Synonym Active Case insensitive SNOMED CT core

626839018 Total hexosaminidase deficiency - juvenile (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set