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880066000: Alpha-N-acetylgalactosaminidase deficiency type 3 (disorder)


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
3994401017 Alpha-N-acetylgalactosaminidase deficiency type 3 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3994402012 Alpha-N-acetylgalactosaminidase deficiency type 3 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3994406010 Schindler disease type 3 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4570368019 NAGA (alpha-N-acetylgalactosaminidase) deficiency type 3 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Alpha-N-acetylgalactosaminidase deficiency type 3 (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder false Inferred relationship Some
Alpha-N-acetylgalactosaminidase deficiency type 3 (disorder) est un(e) (attribut) déficit en alpha-N-acétylgalactosaminidase true Inferred relationship Some
Alpha-N-acetylgalactosaminidase deficiency type 3 (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Alpha-N-acetylgalactosaminidase deficiency type 3 (disorder) localisation d'une constatation (attribut) Structure of central nervous system (body structure) false Inferred relationship Some 2
Alpha-N-acetylgalactosaminidase deficiency type 3 (disorder) morphologie associée (attribut) Degenerative abnormality false Inferred relationship Some 2
Alpha-N-acetylgalactosaminidase deficiency type 3 (disorder) localisation d'une constatation (attribut) système nerveux true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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