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702410002: Iris coloboma with ptosis, hypertelorism, and mental retardation (disorder)

    Status: retired, Primitive. Date: 30-Nov 2022. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    1720211000168113 Iris coloboma with ptosis, hypertelorism, and intellectual disability en Synonym Active Case insensitive SNOMED Clinical Terms Australian extension
    2994992011 Cerebro-frontofacial syndrome, type 3 en Synonym Active Case insensitive SNOMED CT core
    2995020018 Fryns-Aftimos syndrome en Synonym Active Case sensitive SNOMED CT core
    2995240015 Baraitser-Winter syndrome en Synonym Active Case sensitive SNOMED CT core
    2995644015 Iris coloboma with ptosis, hypertelorism, and mental retardation en Synonym Active Case insensitive SNOMED CT core
    2995891012 Iris coloboma with ptosis, hypertelorism, and mental retardation (disorder) en Fully specified name Active Case insensitive SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Baraitser-Winter syndrome Is a Autosomal dominant hereditary disorder false Inferred relationship Some
    Baraitser-Winter syndrome Is a Multisystem disorder false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Australian emergency department reference set

    Australian dialect reference set

    Unit of use quantity reference set

    Concept inactivation indicator reference set

    REPLACED BY association reference set

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