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28292003: Methylmalonyl-CoA mutase 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
    47355011 Methylmalonyl-CoA mutase deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
    758955016 Methylmalonyl-CoA mutase deficiency (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
    1216253010 Vitamin B12 non-responsive methylmalonic acidaemia en Synonym Active Only initial character case insensitive SNOMED CT core module
    1217753016 Vitamin B12 non-responsive methylmalonic acidemia en Synonym Active Only initial character case insensitive SNOMED CT core module
    1225869017 Methylmalonyl-CoA mutase apoenzyme 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
    Methylmalonyl-CoA mutase deficiency Is a Methylmalonic acidemia false Inferred relationship Existential restriction modifier
    Methylmalonyl-CoA mutase deficiency Is a Enzymopathy false Inferred relationship Existential restriction modifier
    Methylmalonyl-CoA mutase deficiency Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier
    Methylmalonyl-CoA mutase deficiency Occurrence Congenital false Inferred relationship Existential restriction modifier
    Methylmalonyl-CoA mutase deficiency Finding site Body system structure false Inferred relationship Existential restriction modifier

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Complete deficiency of methylmalonyl-coenzyme A mutase Is a False Methylmalonyl-CoA mutase deficiency Inferred relationship Existential restriction modifier
    Partial deficiency of methylmalonyl-coenzyme A mutase Is a False Methylmalonyl-CoA mutase deficiency Inferred relationship Existential restriction modifier

    This concept is not in any reference sets

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