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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
    3304963016 Oculocerebral dysplasia syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    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 Only initial character 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 Only initial character case insensitive (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 Is a Microphthalmos false Inferred relationship Existential restriction modifier (core metadata concept)
    Oculocerebral dysplasia syndrome Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    Oculocerebral dysplasia syndrome Is a Congenital anomaly of optic nerve false Inferred relationship Existential restriction modifier (core metadata concept)
    Oculocerebral dysplasia syndrome Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    Oculocerebral dysplasia syndrome Is a Hereditary disorder of the visual system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    Oculocerebral dysplasia syndrome Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Oculocerebral dysplasia syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Oculocerebral dysplasia syndrome Finding site œil entier false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Oculocerebral dysplasia syndrome Associated morphology Aplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Oculocerebral dysplasia syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Oculocerebral dysplasia syndrome Finding site Optic nerve structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Oculocerebral dysplasia syndrome Is a Aplasia of optic nerve (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    Oculocerebral dysplasia syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Oculocerebral dysplasia syndrome Finding site Optic nerve structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Oculocerebral dysplasia syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Oculocerebral dysplasia syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Oculocerebral dysplasia syndrome Associated morphology Aplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator attribute value reference set (foundation metadata concept)

    POSSIBLY EQUIVALENT TO association reference set

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