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414673004: Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder)

    Status: retired, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    1720221000168118 Intellectual disability, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa en Synonym Active Case insensitive SNOMED Clinical Terms Australian extension
    2529711019 Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder) en Fully specified name Active Case insensitive SNOMED CT core
    2533142015 De Sanctis-Cacchione syndrome en Synonym Active Initial character case insensitive SNOMED CT core
    2536925015 Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa en Synonym Active Case insensitive SNOMED CT core
    2536926019 Xerodermic idiocy en Synonym Active Case insensitive SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    De Sanctis-Cacchione syndrome Is a Disorder of central nervous system due to xeroderma pigmentosum false Inferred relationship Some
    De Sanctis-Cacchione syndrome Is a Intellectual disability false Inferred relationship Some
    De Sanctis-Cacchione syndrome Is a Congenital hypoplasia of gonad false Inferred relationship Some
    De Sanctis-Cacchione syndrome Is a Reproductive system hereditary disorder false Inferred relationship Some
    De Sanctis-Cacchione syndrome Is a Short stature disorder false Inferred relationship Some
    De Sanctis-Cacchione syndrome Finding site Gonadal structure false Inferred relationship Some 1
    De Sanctis-Cacchione syndrome Due to Xeroderma pigmentosum false Inferred relationship Some
    De Sanctis-Cacchione syndrome Occurrence Congenital false Inferred relationship Some
    De Sanctis-Cacchione syndrome Associated morphology Congenital hypoplasia false Inferred relationship Some 1
    De Sanctis-Cacchione syndrome Finding site Structure of nervous system false Inferred relationship Some
    De Sanctis-Cacchione syndrome Finding site Gonadal structure false Inferred relationship Some 1
    De Sanctis-Cacchione syndrome Associated morphology Congenital hypoplasia false Inferred relationship Some 1
    De Sanctis-Cacchione syndrome Occurrence Congenital false Inferred relationship Some 2
    De Sanctis-Cacchione syndrome Associated morphology Hypoplasia false Inferred relationship Some 2
    De Sanctis-Cacchione syndrome Finding site Gonadal structure false Inferred relationship Some 2
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Australian dialect reference set

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set

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