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15307001: Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2020. Module: SNOMED CT core module

    Descriptions:

    Id Description Lang Type Status Case? Module
    25966019 Biotin-(propionyl-CoA-carboxylase) ligase deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
    25967011 Neonatal multiple carboxylase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
    25968018 Neonatal biotin-responsive multiple carboxylase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
    25969014 Holocarboxylase synthetase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
    1784748017 Multiple carboxylase deficiency, neonatal onset en Synonym Active Entire term case insensitive SNOMED CT core module
    2971231016 Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
    2971270010 Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency Is a Propionic acidemia false Inferred relationship Existential restriction modifier
    Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency Is a Inborn error of metabolism false Inferred relationship Existential restriction modifier
    Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency Is a Enzymopathy false Inferred relationship Existential restriction modifier
    Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier
    Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency Finding site Body system structure false Inferred relationship Existential restriction modifier
    Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency Occurrence Congenital false Inferred relationship Existential restriction modifier 1
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Multiple carboxylase deficiency - neonatal onset Is a False Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency Inferred relationship Existential restriction modifier

    This concept is not in any reference sets

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