238018004: infantiele ziekte van Sandhoff (aandoening)

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)\...

\Infantile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - infantile

\Sandhoff disease\Total hexosaminidase deficiency - infantile

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

\Infantile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - infantile

\Sandhoff disease\Total hexosaminidase deficiency - infantile

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

\Infantile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - infantile

\Sandhoff disease\Total hexosaminidase deficiency - infantile

\Disorder of foetus and/or newborn\Congenital disease (disorder)\...

\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)\Infantile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - infantile
\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)\Sandhoff disease\Total hexosaminidase deficiency - infantile
\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis\GM2 gangliosidosis (disorder)\Infantile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - infantile
\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis\GM2 gangliosidosis (disorder)\Sandhoff disease\Total hexosaminidase deficiency - infantile

\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis (disorder)\...

\Infantile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - infantile

\Sandhoff disease\Total hexosaminidase deficiency - infantile

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)\Infantile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - infantile
\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 - infantile
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis (disorder)\Infantile GM2 gangliosidosis (disorder)\Total hexosaminidase deficiency - infantile
\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 - infantile

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
356755012	Total hexosaminidase deficiency - infantile	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626838014	Total hexosaminidase deficiency - infantile (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6439581000146114	infantiele vorm van ziekte van Sandhoff	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6741201000146111	infantiele ziekte van Sandhoff (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6741211000146113	infantiele ziekte van Sandhoff	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)