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78548001: Enzymopathy (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: IPS terminology module (core metadata concept)

Descriptions:

Id Description Lang Type Status Case? Module
130340018 Enzymopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)
130343016 Enzyme disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)
819500019 Enzymopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)


6 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Enzymopathy Is a Metabolic disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Alpha-1-antitrypsin deficiency Is a True Enzymopathy Inferred relationship Some
Primary hyperoxaluria Is a True Enzymopathy Inferred relationship Some
Phenylketonuria Is a True Enzymopathy Inferred relationship Some
Specific enzyme deficiency Is a True Enzymopathy Inferred relationship Some

This concept is not in any reference sets

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