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716172002: oculocerebrale dysplasie (aandoening)


    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3304963016 Oculocerebral dysplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3304964010 Oculocerebral dysplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3304965011 Behrens Baumann Vogel syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3304966012 Microphthalmia and optic nerve aplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    6572811000146119 oculocerebrale dysplasie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    6572821000146112 oculocerebrale dysplasie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    3304967015 Oculocerebral dysplasia combines bilateral microphthalmia (or the association of microphthalmia and cryptophthalmus) and unilateral optic nerve aplasia. Two cases have been reported, a girl and her brother. A Dandy-Walker cyst was also present in one case. Transmission appears to be autosomal recessive. 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
    oculocerebrale dysplasie Is a Microphthalmos false Inferred relationship Some
    oculocerebrale dysplasie Is a Autosomal recessive hereditary disorder false Inferred relationship Some
    oculocerebrale dysplasie Is a Congenital anomaly of optic nerve false Inferred relationship Some
    oculocerebrale dysplasie Is a Hereditary disorder of nervous system false Inferred relationship Some
    oculocerebrale dysplasie Is a Hereditary disorder of the visual system (disorder) false Inferred relationship Some
    oculocerebrale dysplasie Associated morphology congenitale kleinheid false Inferred relationship Some 2
    oculocerebrale dysplasie Occurrence Congenital false Inferred relationship Some 2
    oculocerebrale dysplasie Finding site geheel oog (lichaamsstructuur) false Inferred relationship Some 2
    oculocerebrale dysplasie Associated morphology Aplasia false Inferred relationship Some 3
    oculocerebrale dysplasie Occurrence Congenital false Inferred relationship Some 3
    oculocerebrale dysplasie Finding site Optic nerve structure false Inferred relationship Some 3
    oculocerebrale dysplasie Is a Aplasia of optic nerve (disorder) false Inferred relationship Some
    oculocerebrale dysplasie Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    oculocerebrale dysplasie Finding site Optic nerve structure false Inferred relationship Some 1
    oculocerebrale dysplasie Occurrence Congenital false Inferred relationship Some 1
    oculocerebrale dysplasie Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    oculocerebrale dysplasie Associated morphology Aplasia false Inferred relationship Some 1

    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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