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723501008: Renier-Gabreels-Jasper-syndroom (aandoening)

    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
    6790821000146115 syndroom van Renier-Gabreels-Jasper nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    10671941000146115 Renier-Gabreels-Jasper-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    10671951000146117 Renier-Gabreels-Jasper-syndroom (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    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-syndroom Is a microcefalie false Inferred relationship Some
    Renier-Gabreels-Jasper-syndroom Is a Congenital anomaly of brain false Inferred relationship Some
    Renier-Gabreels-Jasper-syndroom Is a Multiple malformation syndrome with facial defects as major feature false Inferred relationship Some
    Renier-Gabreels-Jasper-syndroom Is a mentale retardatie false Inferred relationship Some
    Renier-Gabreels-Jasper-syndroom Is a X-linked hereditary disease false Inferred relationship Some
    Renier-Gabreels-Jasper-syndroom Is a Hereditary disorder of nervous system false Inferred relationship Some
    Renier-Gabreels-Jasper-syndroom Associated morphology congenitale kleinheid false Inferred relationship Some 2
    Renier-Gabreels-Jasper-syndroom Occurrence Congenital false Inferred relationship Some 2
    Renier-Gabreels-Jasper-syndroom Finding site Brain structure false Inferred relationship Some 2
    Renier-Gabreels-Jasper-syndroom Occurrence Congenital false Inferred relationship Some 3
    Renier-Gabreels-Jasper-syndroom Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 2
    Renier-Gabreels-Jasper-syndroom Finding site Face structure false Inferred relationship Some 2
    Renier-Gabreels-Jasper-syndroom Associated morphology congenitale kleinheid false Inferred relationship Some 3
    Renier-Gabreels-Jasper-syndroom Finding site Brain structure false Inferred relationship Some 3
    Renier-Gabreels-Jasper-syndroom Is a Intellectual disability false Inferred relationship Some
    Renier-Gabreels-Jasper-syndroom Occurrence Congenital false Inferred relationship Some 1
    Renier-Gabreels-Jasper-syndroom Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    Renier-Gabreels-Jasper-syndroom Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    Renier-Gabreels-Jasper-syndroom Finding site Face structure false Inferred relationship Some 1
    Renier-Gabreels-Jasper-syndroom Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 1
    Renier-Gabreels-Jasper-syndroom 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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