FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.12  |  FHIR Version n/a  User: [n/a]

237968007: Lysosomal alpha-1,4-glucosidase deficiency - infantile onset (disorder)


    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2016. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    356664014 Lysosomal alpha-1,4-glucosidase deficiency - infantile onset en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    626779017 Lysosomal alpha-1,4-glucosidase deficiency - infantile onset (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    834421000052119 brist på lysosomal alfa-1,4-glukosidas, infantil debut sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)
    3738451000052114 Pompes sjukdom sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    brist på lysosomal alfa-1,4-glukosidas, infantil debut Is a glykogeninlagringssjukdom typ 2 false Inferred relationship Some
    brist på lysosomal alfa-1,4-glukosidas, infantil debut Finding site Skeletal muscle structure false Inferred relationship Some
    brist på lysosomal alfa-1,4-glukosidas, infantil debut Finding site Liver structure false Inferred relationship Some
    brist på lysosomal alfa-1,4-glukosidas, infantil debut Occurrence Congenital false Inferred relationship Some
    brist på lysosomal alfa-1,4-glukosidas, infantil debut Finding site Body system structure false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Enzyme replacement therapy in lysosomal alpha-1,4-glucosidase deficiency - infantile onset (Pompe disease) (procedure) Has focus False brist på lysosomal alfa-1,4-glukosidas, infantil debut Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    SAME AS association reference set (foundation metadata concept)

    Back to Start