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723501008: Renier Gabreels Jasper syndrome (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3424853015 Renier Gabreels Jasper syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3424854014 Renier Gabreels Jasper syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3424855010 An X-linked mental retardation syndrome belonging to the group of conditions with the association of intellectual deficit with hypotonic facies. Prevalence is unknown but the syndrome was first described in 1982 in five males from two generations of one family (three brothers and two of their maternal uncles). The syndrome has characteristics of the association of microcephaly, spasticity, epilepsy, deafness and severe intellectual deficit. Female carriers show microcephaly and subnormal intelligence. Transmission is X-linked en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Renier Gabreels Jasper syndrome Is a Microcephalus false Inferred relationship Some
    Renier Gabreels Jasper syndrome Is a Congenital anomaly of brain false Inferred relationship Some
    Renier Gabreels Jasper syndrome Is a Multiple malformation syndrome with facial defects as major feature false Inferred relationship Some
    Renier Gabreels Jasper syndrome Is a Mental retardation false Inferred relationship Some
    Renier Gabreels Jasper syndrome Is a X-linked hereditary disease false Inferred relationship Some
    Renier Gabreels Jasper syndrome Is a Hereditary disorder of nervous system false Inferred relationship Some
    Renier Gabreels Jasper syndrome Associated morphology Congenital smallness false Inferred relationship Some 2
    Renier Gabreels Jasper syndrome Occurrence Congenital false Inferred relationship Some 2
    Renier Gabreels Jasper syndrome Finding site Brain structure false Inferred relationship Some 2
    Renier Gabreels Jasper syndrome Occurrence Congenital false Inferred relationship Some 3
    Renier Gabreels Jasper syndrome Associated morphology Developmental anomaly false Inferred relationship Some 2
    Renier Gabreels Jasper syndrome Finding site Face structure false Inferred relationship Some 2
    Renier Gabreels Jasper syndrome Associated morphology Congenital smallness false Inferred relationship Some 3
    Renier Gabreels Jasper syndrome Finding site Brain structure false Inferred relationship Some 3
    Renier Gabreels Jasper syndrome Is a Intellectual disability false Inferred relationship Some
    Renier Gabreels Jasper syndrome Occurrence Congenital false Inferred relationship Some 1
    Renier Gabreels Jasper syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    Renier Gabreels Jasper syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    Renier Gabreels Jasper syndrome Finding site Face structure false Inferred relationship Some 1
    Renier Gabreels Jasper syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 1
    Renier Gabreels Jasper syndrome Is a Developmental hereditary disorder false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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