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124706000: Deficiency of glutathione synthase (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
205012019 Deficiency of glutathione synthetase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
205013012 Deficiency of glutathione synthase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
728437019 Deficiency of glutathione synthase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3389381000052111 brist på glutationsyntas sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deficiency of glutathione synthase Is a Specific enzyme deficiency true Inferred relationship Some
Deficiency of glutathione synthase Finding site Body system structure false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Glutathione synthase deficiency without 5-oxoprolinuria Is a True Deficiency of glutathione synthase Inferred relationship Some
HNSHA due to glutathione synthetase deficiency Is a False Deficiency of glutathione synthase Inferred relationship Some
HNSHA due to glutathione synthetase deficiency Associated etiologic finding False Deficiency of glutathione synthase Inferred relationship Some
HNSHA due to glutathione synthetase deficiency Due to True Deficiency of glutathione synthase Inferred relationship Some 5

This concept is not in any reference sets

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