879937000: Alpha-N-acetylgalactosaminidase deficiency type 1 (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 1

\Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 1

\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 1

\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 1

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 1

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 1
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 1

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 1
\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 1
\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 1
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 1
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 1

\Congenital disease (disorder)\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 1
\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 1
\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 1
\Congenital disease (disorder)\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Alpha-N-acetylgalactosaminidase deficiency\Alpha-N-acetylgalactosaminidase deficiency type 1

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 1	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Alpha-N-acetylgalactosaminidase deficiency type 1	Is a	Alpha-N-acetylgalactosaminidase deficiency	true	Inferred relationship	Some
Alpha-N-acetylgalactosaminidase deficiency type 1	Occurrence	Congenital	true	Inferred relationship	Some	1
Alpha-N-acetylgalactosaminidase deficiency type 1	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	2
Alpha-N-acetylgalactosaminidase deficiency type 1	Associated morphology	Degenerative abnormality	false	Inferred relationship	Some	2
Alpha-N-acetylgalactosaminidase deficiency type 1	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	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
3993909017	Schindler disease type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3993910010	Alpha-N-acetylgalactosaminidase deficiency type 1	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3993911014	Alpha-N-acetylgalactosaminidase deficiency type 1 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4570366015	NAGA (alpha-N-acetylgalactosaminidase) deficiency type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3994396016	A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4009619015	A very rare and severe type of NAGA deficiency characterised by infantile neuroaxonal dystrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
11335471000172110	maladie de Schindler type 1	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
11335481000172113	déficit en alpha-N-acétylgalactosaminidase de type 1	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4137851000172112	alfa-N-acetylgalactosaminidasedeficiëntie type 1	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4137861000172114	ziekte van Schindler type 1	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4137871000172117	deficiëntie van alfa-N-acetylgalactosaminidase type 1	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4137881000172119	NAGA-deficiëntie type 1	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)