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83092002: 22q11.2-deletiegerelateerd syndroom (aandoening)

    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
    72921000146118 syndroom van Shprintzen nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    2063981000146116 22q11.2-deletiegerelateerd syndroom (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    2063991000146119 22q11.2-deletiegerelateerd syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    2064001000146111 velocardiofaciaal syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    2064011000146113 VCFS nl Synonym (core metadata concept) Active Entire term case sensitive (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
    syndroom van Shprintzen Is a Multisystem disorder S-T false Inferred relationship Some
    syndroom van Shprintzen Is a Multiple malformation syndrome with facial-limb defects as major feature false Inferred relationship Some
    syndroom van Shprintzen Is a Congenital heart disease false Inferred relationship Some
    syndroom van Shprintzen Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 1
    syndroom van Shprintzen Finding site Cardiovascular system subdivision false Inferred relationship Some 2
    syndroom van Shprintzen Occurrence Congenital false Inferred relationship Some
    syndroom van Shprintzen Finding site Heart structure false Inferred relationship Some 2
    syndroom van Shprintzen Finding site Musculoskeletal structure of limb false Inferred relationship Some
    syndroom van Shprintzen Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some
    syndroom van Shprintzen Finding site Structure of cardiovascular system (body structure) false Inferred relationship Some 2
    syndroom van Shprintzen Finding site Limb structure false Inferred relationship Some 2
    syndroom van Shprintzen Is a Structural disorder of heart false Inferred relationship Some
    syndroom van Shprintzen Associated morphology Congenital malformation false Inferred relationship Some 2
    syndroom van Shprintzen Is a Viscus structure finding (finding) false Inferred relationship Some
    syndroom van Shprintzen Is a Congenital anomaly of cardiovascular system false Inferred relationship Some
    syndroom van Shprintzen Is a Congenital anomaly of trunk false Inferred relationship Some
    syndroom van Shprintzen Associated morphology Congenital malformation false Inferred relationship Some 1
    syndroom van Shprintzen Finding site Heart structure false Inferred relationship Some 1
    syndroom van Shprintzen Finding site Limb structure false Inferred relationship Some 1
    syndroom van Shprintzen Associated morphology Congenital malformation false Inferred relationship Some
    syndroom van Shprintzen Is a Multiple system malformation syndrome false Inferred relationship Some
    syndroom van Shprintzen Occurrence Congenital false Inferred relationship Some 1
    syndroom van Shprintzen Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) 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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