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72538006: Hydroxymethylglutaryl-CoA lyase deficiency (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2004. Module: SNOMED CT core module

    Descriptions:

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

    0 descendants.

    Expanded Value Set

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

    This concept is not in any reference sets

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