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72538006: Hydroxymethylglutaryl-CoA lyase deficiency (disorder)


    Status: retired, Primitive. Date: 31-Jul 2004. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    120488014 Hydroxymethylglutaryl-CoA lyase deficiency en Synonym Active Initial character case insensitive SNOMED CT core
    120489018 HMG-CoA lyase deficiency en Synonym Active Case sensitive SNOMED CT core
    120490010 Hydroxymethylglutaric aciduria en Synonym Active Case insensitive SNOMED CT core
    1233514019 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency en Synonym Active Initial character case insensitive SNOMED CT core
    200291018 Hydroxymethylglutaricaciduria en Synonym Active Case insensitive SNOMED CT core
    812826017 Hydroxymethylglutaryl-CoA lyase deficiency (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Hydroxymethylglutaryl-CoA lyase deficiency Is a Non-amino organic acidaemia AND/OR aciduria false Inferred relationship Some
    Hydroxymethylglutaryl-CoA lyase deficiency Is a Disorder of branched-chain amino acid metabolism false Inferred relationship Some
    Hydroxymethylglutaryl-CoA lyase deficiency Is a Enzymopathy false Inferred relationship Some
    Hydroxymethylglutaryl-CoA lyase deficiency Is a Autosomal recessive hereditary disorder false Inferred relationship Some
    Hydroxymethylglutaryl-CoA lyase deficiency Occurrence Congenital false Inferred relationship Some
    Hydroxymethylglutaryl-CoA lyase deficiency Finding site Body system structure false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set

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