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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
    2869127018 2-methylbutyrylglycinuria (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    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 Only initial character 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
    5349281000241117 2-méthylbutyrylglycinurie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
    5349281000241117 2-méthylbutyrylglycinurie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    2-méthylbutyrylglycinurie Is a Disorder of isoleucine metabolism (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    2-méthylbutyrylglycinurie Due to Deficiency of 2-methylbutyryl-CoA dehydrogenase false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator attribute value reference set (foundation metadata concept)

    REPLACED BY association reference set (foundation metadata concept)

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