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83092002: Shprintzen syndrome (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    137830014 Shprintzen syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    137831013 Velo-cardio-facial syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    824653015 Shprintzen syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
    1234786015 Velocardiofacial syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    2164176017 VCF-Velocardiofacial syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    2922770014 22q11 microdeletion with velocardiofacial syndrome phenotype en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    1246681000005110 Shprintzens syndrom da Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) dansk modul

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Shprintzens syndrom Is a Multisystem disorder S-T false Inferred relationship Some
    Shprintzens syndrom Is a Multiple malformation syndrome with facial-limb defects as major feature false Inferred relationship Some
    Shprintzens syndrom Is a Congenital heart disease false Inferred relationship Some
    Shprintzens syndrom Associated morphology kongenit anomali false Inferred relationship Some 1
    Shprintzens syndrom Finding site Cardiovascular system subdivision false Inferred relationship Some 2
    Shprintzens syndrom Occurrence Congenital false Inferred relationship Some
    Shprintzens syndrom Finding site Heart structure false Inferred relationship Some 2
    Shprintzens syndrom Finding site Musculoskeletal structure of limb false Inferred relationship Some
    Shprintzens syndrom Associated morphology dysgenese false Inferred relationship Some
    Shprintzens syndrom Finding site Structure of cardiovascular system (body structure) false Inferred relationship Some 2
    Shprintzens syndrom Finding site Limb structure false Inferred relationship Some 2
    Shprintzens syndrom Is a Structural disorder of heart false Inferred relationship Some
    Shprintzens syndrom Associated morphology Kongenit malformation false Inferred relationship Some 2
    Shprintzens syndrom Is a Viscus structure finding (finding) false Inferred relationship Some
    Shprintzens syndrom Is a Congenital anomaly of cardiovascular system false Inferred relationship Some
    Shprintzens syndrom Is a Congenital anomaly of trunk false Inferred relationship Some
    Shprintzens syndrom Associated morphology Kongenit malformation false Inferred relationship Some 1
    Shprintzens syndrom Finding site Heart structure false Inferred relationship Some 1
    Shprintzens syndrom Finding site Limb structure false Inferred relationship Some 1
    Shprintzens syndrom Associated morphology Kongenit malformation false Inferred relationship Some
    Shprintzens syndrom Is a Multiple system malformation syndrome false Inferred relationship Some
    Shprintzens syndrom Occurrence Congenital false Inferred relationship Some 1
    Shprintzens syndrom Associated morphology dysgenese false Inferred relationship Some 1
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    GB English

    US English

    REPLACED BY association reference set (foundation metadata concept)

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