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238048001: Alpha-N-acetylgalactosaminidase deficiency (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
356825013 Schindler disease en Synonym Active Case sensitive SNOMED CT core
356826014 Alpha-N-acetylgalactosaminidase deficiency en Synonym Active Initial character case insensitive SNOMED CT core
4570365016 NAGA (alpha-N-acetylgalactosaminidase) deficiency en Synonym Active Case sensitive SNOMED CT core
626876015 Alpha-N-acetylgalactosaminidase deficiency (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Alpha-N-acetylgalactosaminidase deficiency Is a Hereditary degenerative disease of central nervous system false Inferred relationship Some
Alpha-N-acetylgalactosaminidase deficiency Associated morphology Degenerative abnormality false Inferred relationship Some 1
Alpha-N-acetylgalactosaminidase deficiency Finding site Structure of nervous system true Inferred relationship Some 1
Alpha-N-acetylgalactosaminidase deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Alpha-N-acetylgalactosaminidase deficiency Is a Oligosaccharidosis true Inferred relationship Some
Alpha-N-acetylgalactosaminidase deficiency Is a Inherited metabolic disorder of nervous system true Inferred relationship Some
Alpha-N-acetylgalactosaminidase deficiency Finding site Structure of central nervous system false Inferred relationship Some 1
Alpha-N-acetylgalactosaminidase deficiency Associated morphology Degeneration false Inferred relationship Some 1
Alpha-N-acetylgalactosaminidase deficiency Associated morphology Degeneration false Inferred relationship Some 1
Alpha-N-acetylgalactosaminidase deficiency Finding site Structure of central nervous system false Inferred relationship Some 1
Alpha-N-acetylgalactosaminidase deficiency Occurrence Congenital true Inferred relationship Some 2
Alpha-N-acetylgalactosaminidase deficiency Is a Hereditary disorder of nervous system false Inferred relationship Some
Alpha-N-acetylgalactosaminidase deficiency Is a Glycoprotein metabolism disorder false Inferred relationship Some
Alpha-N-acetylgalactosaminidase deficiency Is a Degenerative disease of the central nervous system false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Alpha-N-acetylgalactosaminidase deficiency type 1 Is a True Alpha-N-acetylgalactosaminidase deficiency Inferred relationship Some
Alpha-N-acetylgalactosaminidase deficiency type 2 Is a True Alpha-N-acetylgalactosaminidase deficiency Inferred relationship Some
Alpha-N-acetylgalactosaminidase deficiency type 3 Is a True Alpha-N-acetylgalactosaminidase deficiency Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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