880065001: Alpha-N-acetylgalactosaminidase deficiency type 2 (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\...

\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 2

\Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 2

\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 2

\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 2

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 2

\Disorder of foetus and/or newborn\Congenital disease\...

\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 2
\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 2
\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 2

\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 2

\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 2
\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 2

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 2
\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 2
\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 2
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 2
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 2

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Alpha-N-acetylgalactosaminidase deficiency type 2	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Alpha-N-acetylgalactosaminidase deficiency type 2	Is a	Alpha-N-acetylgalactosaminidase deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Alpha-N-acetylgalactosaminidase deficiency type 2	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Alpha-N-acetylgalactosaminidase deficiency type 2	Finding site	Structure of central nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Alpha-N-acetylgalactosaminidase deficiency type 2	Associated morphology	Degenerative abnormality (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Alpha-N-acetylgalactosaminidase deficiency type 2	Finding site	Nervous system structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

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
3994399011	Alpha-N-acetylgalactosaminidase deficiency type 2	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3994400016	Alpha-N-acetylgalactosaminidase deficiency type 2 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3994404013	Schindler disease type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4570367012	NAGA (alpha-N-acetylgalactosaminidase) deficiency type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3994399011	Alpha-N-acetylgalactosaminidase deficiency type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3994399011	Alpha-N-acetylgalactosaminidase deficiency type 2	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3994400016	Alpha-N-acetylgalactosaminidase deficiency type 2 (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3994400016	Alpha-N-acetylgalactosaminidase deficiency type 2 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3994403019	NAGA - Alpha-N-acetylgalactosaminidase deficiency type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3994404013	Schindler disease type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4570367012	NAGA (alpha-N-acetylgalactosaminidase) deficiency type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6027521000241110	maladie de Schindler de type 2	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6027531000241112	déficit en alpha-N-acétylgalactosaminidase de type 2	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6027521000241110	maladie de Schindler de type 2	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6027531000241112	déficit en alpha-N-acétylgalactosaminidase de type 2	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module