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


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

    Descriptions:

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


    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 Existential restriction modifier
    Iris coloboma with ptosis, hypertelorism, and mental retardation Is a Multisystem disorder false Inferred relationship Existential restriction modifier

    Inbound Relationships Type Active Source Characteristic Refinability Group

    This concept is not in any reference sets

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