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\Hereditary disorder of nervous system\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 (disorder)\...

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

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

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	Some
Alpha-N-acetylgalactosaminidase deficiency type 2	Is a	Alpha-N-acetylgalactosaminidase deficiency	true	Inferred relationship	Some
Alpha-N-acetylgalactosaminidase deficiency type 2	Occurrence	Congenital	true	Inferred relationship	Some	1
Alpha-N-acetylgalactosaminidase deficiency type 2	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	2
Alpha-N-acetylgalactosaminidase deficiency type 2	Associated morphology	Degenerative abnormality	false	Inferred relationship	Some	2
Alpha-N-acetylgalactosaminidase deficiency type 2	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