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784373007: Beta-mercaptolactate cysteine disulfiduria (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3763840015 Beta-mercaptolactate cysteine disulfiduria (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3763841016 Ampola syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3763842011 Beta-mercaptolactate cysteine disulfiduria en Synonym Active Entire term case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Beta-mercaptolactate cysteine disulfiduria Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Beta-mercaptolactate cysteine disulfiduria Is a Disorder of sulfur-bearing amino acid metabolism true Inferred relationship Existential restriction modifier
Beta-mercaptolactate cysteine disulfiduria Due to Deficiency of 3-mercaptopyruvate sulfurtransferase true Inferred relationship Existential restriction modifier 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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