238048001: Alpha-N-acetylgalactosaminidase deficiency (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

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

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

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

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

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

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

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

\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
\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

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

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
Alpha-N-acetylgalactosaminidase deficiency	Is a	Hereditary disorder of nervous system (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Alpha-N-acetylgalactosaminidase deficiency	Is a	Disorder of glycoprotein metabolism	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Alpha-N-acetylgalactosaminidase deficiency	Is a	Degenerative disease of the central nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Alpha-N-acetylgalactosaminidase deficiency	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Alpha-N-acetylgalactosaminidase deficiency	Finding site	Structure of central nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Alpha-N-acetylgalactosaminidase deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Alpha-N-acetylgalactosaminidase deficiency	Finding site	Structure of central nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Alpha-N-acetylgalactosaminidase deficiency	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Alpha-N-acetylgalactosaminidase deficiency	Is a	Hereditary degenerative disease of central nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Alpha-N-acetylgalactosaminidase deficiency	Associated morphology	Degenerative abnormality (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Alpha-N-acetylgalactosaminidase deficiency	Finding site	Nervous system structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Alpha-N-acetylgalactosaminidase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Alpha-N-acetylgalactosaminidase deficiency	Is a	Oligosaccharidosis (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Alpha-N-acetylgalactosaminidase deficiency	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A very rare and severe type of NAGA deficiency characterised by infantile neuroaxonal dystrophy.	Is a	True	Alpha-N-acetylgalactosaminidase deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)
Alpha-N-acetylgalactosaminidase deficiency type 2	Is a	True	Alpha-N-acetylgalactosaminidase deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)
Alpha-N-acetylgalactosaminidase deficiency type 3 (disorder)	Is a	True	Alpha-N-acetylgalactosaminidase deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
356825013	Schindler disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
356826014	Alpha-N-acetylgalactosaminidase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
626876015	Alpha-N-acetylgalactosaminidase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4570365016	NAGA (alpha-N-acetylgalactosaminidase) deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
356825013	Schindler disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
356826014	Alpha-N-acetylgalactosaminidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
356826014	Alpha-N-acetylgalactosaminidase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
626876015	Alpha-N-acetylgalactosaminidase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
626876015	Alpha-N-acetylgalactosaminidase deficiency (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
626876015	Alpha-N-acetylgalactosaminidase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4570365016	NAGA (alpha-N-acetylgalactosaminidase) deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3433571001000112	Alpha-N-Acetylgalactosaminidase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
962411000172111	déficit en NAGA (alpha-N-acétylgalactosaminidase)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1002361000172114	déficit en alpha-N-acétylgalactosaminidase	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
962411000172111	déficit en NAGA (alpha-N-acétylgalactosaminidase)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1002361000172114	déficit en alpha-N-acétylgalactosaminidase	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3433571001000112	Alpha-N-Acetylgalactosaminidase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module