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716172002: Oculocerebral dysplasia syndrome (disorder)


    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
    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
    Oculocerebral dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
    Oculocerebral dysplasia syndrome (disorder) localisation d'une constatation (attribut) Optic nerve structure false Inferred relationship Some 1
    Oculocerebral dysplasia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 1
    Oculocerebral dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    Oculocerebral dysplasia syndrome (disorder) morphologie associée (attribut) Aplasia false Inferred relationship Some 1
    Oculocerebral dysplasia syndrome (disorder) est un(e) (attribut) Microphthalmos false Inferred relationship Some
    Oculocerebral dysplasia syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder false Inferred relationship Some
    Oculocerebral dysplasia syndrome (disorder) est un(e) (attribut) Congenital anomaly of optic nerve false Inferred relationship Some
    Oculocerebral dysplasia syndrome (disorder) est un(e) (attribut) Hereditary disorder of nervous system false Inferred relationship Some
    Oculocerebral dysplasia syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system false Inferred relationship Some
    Oculocerebral dysplasia syndrome (disorder) morphologie associée (attribut) Congenital smallness false Inferred relationship Some 2
    Oculocerebral dysplasia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 2
    Oculocerebral dysplasia syndrome (disorder) localisation d'une constatation (attribut) Entire eye false Inferred relationship Some 2
    Oculocerebral dysplasia syndrome (disorder) morphologie associée (attribut) Aplasia false Inferred relationship Some 3
    Oculocerebral dysplasia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 3
    Oculocerebral dysplasia syndrome (disorder) localisation d'une constatation (attribut) Optic nerve structure false Inferred relationship Some 3
    Oculocerebral dysplasia syndrome (disorder) est un(e) (attribut) Aplasia of optic nerve (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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