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83092002: Shprintzen syndrome (disorder)

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

    Descriptions:

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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Shprintzen syndrome Is a Multisystem disorder S-T false Inferred relationship Existential restriction modifier
    Shprintzen syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature false Inferred relationship Existential restriction modifier
    Shprintzen syndrome Is a Congenital heart disease false Inferred relationship Existential restriction modifier
    Shprintzen syndrome Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
    Shprintzen syndrome Finding site Structure of cardiovascular system subdivision false Inferred relationship Existential restriction modifier 2
    Shprintzen syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier
    Shprintzen syndrome Finding site Heart structure false Inferred relationship Existential restriction modifier 2
    Shprintzen syndrome Finding site Musculoskeletal structure of limb false Inferred relationship Existential restriction modifier
    Shprintzen syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier
    Shprintzen syndrome Finding site Structure of cardiovascular system false Inferred relationship Existential restriction modifier 2
    Shprintzen syndrome Finding site Limb structure false Inferred relationship Existential restriction modifier 2
    Shprintzen syndrome Is a Structural disorder of heart false Inferred relationship Existential restriction modifier
    Shprintzen syndrome Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier 2
    Shprintzen syndrome Is a Viscus structure finding false Inferred relationship Existential restriction modifier
    Shprintzen syndrome Is a Congenital anomaly of cardiovascular system false Inferred relationship Existential restriction modifier
    Shprintzen syndrome Is a Congenital anomaly of trunk false Inferred relationship Existential restriction modifier
    Shprintzen syndrome Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier 1
    Shprintzen syndrome Finding site Heart structure false Inferred relationship Existential restriction modifier 1
    Shprintzen syndrome Finding site Limb structure false Inferred relationship Existential restriction modifier 1
    Shprintzen syndrome Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier
    Shprintzen syndrome Is a Multiple system malformation syndrome false Inferred relationship Existential restriction modifier
    Shprintzen syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 1
    Shprintzen syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 1
    Inbound Relationships Type Active Source Characteristic Refinability Group

    This concept is not in any reference sets

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