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725912001: X-linked intellectual disability Brooks type (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Feb 2025. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3446392010 X-linked intellectual disability Brooks type (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3446393017 X-linked intellectual disability Brooks type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3446394011 Brooks Wisniewski Brown syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3446392010 X-linked intellectual disability Brooks type (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3446393017 X-linked intellectual disability Brooks type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3446394011 Brooks Wisniewski Brown syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3446395012 A rare X-linked intellectual disability syndrome with characteristics of failure to thrive, speech delay, intellectual disability, muscle hypotonia, spastic diplegia, optic atrophy with myopia and distinct facial features (including triangular face, bifrontal narrowness, deeply set eyes, low-set/cupped ears, prominent nose, short philtrum, and thin upper lip with tented morphology) that can be evident from birth. Additional manifestations reported in some patients include large joint contractures and pectus excavatum (which become more evident with age) and seizures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    966591000172116 déficience intellectuelle liée à l'X type Brooks fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
    966591000172116 déficience intellectuelle liée à l'X type Brooks fr 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
    déficience intellectuelle liée à l'X type Brooks Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
    déficience intellectuelle liée à l'X type Brooks Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
    déficience intellectuelle liée à l'X type Brooks Is a Intelligenzminderung false Inferred relationship Existential restriction modifier (core metadata concept)
    déficience intellectuelle liée à l'X type Brooks Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    déficience intellectuelle liée à l'X type Brooks Is a Developmental hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    déficience intellectuelle liée à l'X type Brooks Interprets Intellectual ability (observable entity) false Inferred relationship Existential restriction modifier (core metadata concept) 2
    déficience intellectuelle liée à l'X type Brooks Has interpretation Impaired (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
    déficience intellectuelle liée à l'X type Brooks Interprets Adaptation behavior false Inferred relationship Existential restriction modifier (core metadata concept) 3
    déficience intellectuelle liée à l'X type Brooks Has interpretation Impaired (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 3
    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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