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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
    1234785016 Shprintzen-Goldberg syndrome en Synonym (core metadata concept) Inactive Only initial character case insensitive (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

    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 Some
    Shprintzen syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature false Inferred relationship Some
    Shprintzen syndrome Is a Congenital heart disease false Inferred relationship Some
    Shprintzen syndrome Associated morphology Congenital anomaly false Inferred relationship Some 1
    Shprintzen syndrome Finding site Cardiovascular system subdivision false Inferred relationship Some 2
    Shprintzen syndrome Occurrence Congenital false Inferred relationship Some
    Shprintzen syndrome Finding site Heart structure false Inferred relationship Some 2
    Shprintzen syndrome Finding site Musculoskeletal structure of limb false Inferred relationship Some
    Shprintzen syndrome Associated morphology Developmental anomaly false Inferred relationship Some
    Shprintzen syndrome Finding site Structure of cardiovascular system (body structure) false Inferred relationship Some 2
    Shprintzen syndrome Finding site Limb structure false Inferred relationship Some 2
    Shprintzen syndrome Is a Structural disorder of heart false Inferred relationship Some
    Shprintzen syndrome Associated morphology Congenital malformation false Inferred relationship Some 2
    Shprintzen syndrome Is a Viscus structure finding (finding) false Inferred relationship Some
    Shprintzen syndrome Is a Congenital anomaly of cardiovascular system false Inferred relationship Some
    Shprintzen syndrome Is a Congenital anomaly of trunk false Inferred relationship Some
    Shprintzen syndrome Associated morphology Congenital malformation false Inferred relationship Some 1
    Shprintzen syndrome Finding site Heart structure false Inferred relationship Some 1
    Shprintzen syndrome Finding site Limb structure false Inferred relationship Some 1
    Shprintzen syndrome Associated morphology Congenital malformation false Inferred relationship Some
    Shprintzen syndrome Is a Multiple system malformation syndrome false Inferred relationship Some
    Shprintzen syndrome Occurrence Congenital false Inferred relationship Some 1
    Shprintzen syndrome Associated morphology Developmental anomaly false Inferred relationship Some 1
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Family history of velocardiofacial syndrome (situation) Associated finding False Shprintzen syndrome Inferred relationship Some 1

    Reference Sets

    Concept inactivation indicator reference set

    GB English

    US English

    REPLACED BY association reference set (foundation metadata concept)

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