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1370890005: Deficiency of aspartylglucosaminidase (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5470048018 Deficiency of aspartylglucosaminidase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5470049014 Deficiency of aspartylglucosaminidase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5470053011 AGA (aspartylglucosaminidase) deficiency 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
Deficiency of aspartylglucosaminidase Is a Specific enzyme deficiency true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Aspartylglucosaminuria Due to True Deficiency of aspartylglucosaminidase Inferred relationship Some 4

This concept is not in any reference sets

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