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445596006: 2-methylbutyrylglycinuria (disorder)


    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Apr 2024. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    2869127018 2-methylbutyrylglycinuria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    2872169019 2-methylbutyrylglycinuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    2-methylbutyrylglycinuria Is a Disorder of isoleucine metabolism (disorder) false Inferred relationship Some
    2-methylbutyrylglycinuria Due to Deficiency of 2-methylbutyryl-CoA dehydrogenase false Inferred relationship Some 1

    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set (foundation metadata concept)

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