FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.24  |  FHIR Version n/a  User: [n/a]

15307001: holocarboxylase-synthetasedeficiëntie (aandoening)


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

    Descriptions:

    Id Description Lang Type Status Case? Module
    25966019 Biotin-(propionyl-CoA-carboxylase) ligase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    25967011 Neonatal multiple carboxylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    25968018 Neonatal biotin-responsive multiple carboxylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    25969014 Holocarboxylase synthetase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    1784748017 Multiple carboxylase deficiency, neonatal onset en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    2971231016 Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    2971270010 Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    340421000146111 holocarboxylase-synthetasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    340431000146113 holocarboxylase-synthetasedeficiëntie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    holocarboxylase-synthetasedeficiëntie Is a Propionic acidemia false Inferred relationship Some
    holocarboxylase-synthetasedeficiëntie Is a Inborn error of metabolism false Inferred relationship Some
    holocarboxylase-synthetasedeficiëntie Is a Enzymopathy false Inferred relationship Some
    holocarboxylase-synthetasedeficiëntie Is a Autosomal recessive hereditary disorder false Inferred relationship Some
    holocarboxylase-synthetasedeficiëntie Finding site Body system structure false Inferred relationship Some
    holocarboxylase-synthetasedeficiëntie Occurrence Congenital false Inferred relationship Some 1

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Multiple carboxylase deficiency - neonatal onset Is a False holocarboxylase-synthetasedeficiëntie Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

    Back to Start