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


    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2022. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    2994992011 Cerebro-frontofacial syndrome, type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    2995020018 Fryns-Aftimos syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    2995240015 Baraitser-Winter syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    2995644015 Iris coloboma with ptosis, hypertelorism, and mental retardation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    2995891012 Iris coloboma with ptosis, hypertelorism, and mental retardation (disorder) en Fully specified name 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
    Iris coloboma with ptosis, hypertelorism, and mental retardation Is a Autosomal dominant hereditary disorder false Inferred relationship Some
    Iris coloboma with ptosis, hypertelorism, and mental retardation Is a Multisystem disorder false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    Description inactivation indicator reference set

    GB English

    US English

    REPLACED BY association reference set (foundation metadata concept)

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