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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
    2994992011 Cerebro-frontofacial syndrome, type 3 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    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 Only initial character case insensitive (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 Only initial character 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
    3428791001000111 Baraitser-Winter zerebro-fronto-faziales Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
    3428791001000111 Baraitser-Winter zerebro-fronto-faziales Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Baraitser-Winter zerebro-fronto-faziales Syndrom Is a Autosomal dominant hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    Baraitser-Winter zerebro-fronto-faziales Syndrom Is a trouble multisytémique false Inferred relationship Existential restriction modifier (core metadata concept)

    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator attribute value reference set (foundation metadata concept)

    REPLACED BY association reference set (foundation metadata concept)

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