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718221007: Behr syndrome (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3310335013 Behr syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3310359015 Behr syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3311570019 Infantile hereditary optic atrophy with neurological abnormality en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3311571015 Behr syndrome includes an optic atrophy associated with neurological manifestations. This syndrome is clinically similar to Costeff syndrome but can be distinguished by the absence of metabolic abnormalities. This inherited disorder is transmitted following an autosomal recessive pattern. The optic atrophy is responsible for a moderate to severe visual impairment that appears early in life. The neurological manifestations can include myoclonic epilepsy, progressive spastic paraplegia due to pyramidal tract involvement, dysarthria, extra-pyramidal tract signs, ataxia, urinary incontinence, mental retardation, posterior column sensory loss or muscle contractures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3310335013 Behr syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3310359015 Behr syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3311570019 Infantile hereditary optic atrophy with neurological abnormality en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    3311570019 Infantile hereditary optic atrophy with neurological abnormality en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3311571015 Behr syndrome includes an optic atrophy associated with neurological manifestations. This syndrome is clinically similar to Costeff syndrome but can be distinguished by the absence of metabolic abnormalities. This inherited disorder is transmitted following an autosomal recessive pattern. The optic atrophy is responsible for a moderate to severe visual impairment that appears early in life. The neurological manifestations can include myoclonic epilepsy, progressive spastic paraplegia due to pyramidal tract involvement, dysarthria, extra-pyramidal tract signs, ataxia, urinary incontinence, mental retardation, posterior column sensory loss or muscle contractures. 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
    Behr syndrome Is a Optic atrophy false Inferred relationship Existential restriction modifier (core metadata concept)
    Behr syndrome Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    Behr syndrome Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    Behr syndrome Is a Hereditary disorder of the visual system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    Behr syndrome Associated morphology Atrophy false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Behr syndrome Occurrence Infancy false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Behr syndrome Finding site Optic nerve structure 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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