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28292003: Methylmalonyl-CoA mutase deficiency (disorder)

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

    Descriptions:

    Id Description Lang Type Status Case? Module
    47355011 Methylmalonyl-CoA mutase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    758955016 Methylmalonyl-CoA mutase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    1216253010 Vitamin B12 non-responsive methylmalonic acidaemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    1217753016 Vitamin B12 non-responsive methylmalonic acidemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    1225869017 Methylmalonyl-CoA mutase apoenzyme deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    47355011 Methylmalonyl-CoA mutase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    758955016 Methylmalonyl-CoA mutase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    1216253010 Vitamin B12 non-responsive methylmalonic acidaemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    1217753016 Vitamin B12 non-responsive methylmalonic acidemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    1225869017 Methylmalonyl-CoA mutase apoenzyme deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

    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 (core metadata concept)
    Methylmalonyl-CoA mutase deficiency Is a Enzymopathy false Inferred relationship Existential restriction modifier (core metadata concept)
    Methylmalonyl-CoA mutase deficiency Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    Methylmalonyl-CoA mutase deficiency Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
    Methylmalonyl-CoA mutase deficiency Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Complete deficiency of methylmalonyl-CoA mutase Is a False Methylmalonyl-CoA mutase deficiency Inferred relationship Existential restriction modifier (core metadata concept)
    Partial deficiency of methylmalonyl-CoA mutase Is a False Methylmalonyl-CoA mutase deficiency Inferred relationship Existential restriction modifier (core metadata concept)

    Reference Sets

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

    SAME AS association reference set (foundation metadata concept)

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