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783157004: Leigh syndrome with nephrotic syndrome (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2023. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3757872018 Leigh syndrome with nephrotic syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3757873011 Infantile subacute necrotizing encephalopathy with nephrotic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3757874017 Leigh disease with nephrotic syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3757875016 Infantile subacute necrotising encephalopathy with nephrotic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3757876015 Leigh syndrome with nephrotic syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3757877012 A rare genetic neurometabolic disease with characteristics of encephalomyopathy (including developmental delay, nystagmus, progressive ataxia, dystonia, amyotrophy, visual loss, sensorineural deafness, seizures) and bilateral symmetrical lesions in the basal ganglia or brainstem on imaging, associated with nephrotic syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3757872018 Leigh syndrome with nephrotic syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3757873011 Infantile subacute necrotizing encephalopathy with nephrotic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3757874017 Leigh disease with nephrotic syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3757875016 Infantile subacute necrotising encephalopathy with nephrotic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3757876015 Leigh syndrome with nephrotic syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3757877012 A rare genetic neurometabolic disease with characteristics of encephalomyopathy (including developmental delay, nystagmus, progressive ataxia, dystonia, amyotrophy, visual loss, sensorineural deafness, seizures) and bilateral symmetrical lesions in the basal ganglia or brainstem on imaging, associated with nephrotic syndrome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3442791001000110 Leigh-Syndrom mit nephrotischem Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
    3442791001000110 Leigh-Syndrom mit nephrotischem Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Leigh-Syndrom mit nephrotischem Syndrom Interprets Measurement of protein in urine (procedure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Leigh-Syndrom mit nephrotischem Syndrom Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Leigh-Syndrom mit nephrotischem Syndrom Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    Leigh-Syndrom mit nephrotischem Syndrom Is a Leigh's disease false Inferred relationship Existential restriction modifier (core metadata concept)
    Leigh-Syndrom mit nephrotischem Syndrom Is a Mitochondrial encephalomyopathy (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    Leigh-Syndrom mit nephrotischem Syndrom Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Leigh-Syndrom mit nephrotischem Syndrom Is a Nephrotic syndrome false Inferred relationship Existential restriction modifier (core metadata concept)
    Leigh-Syndrom mit nephrotischem Syndrom Is a Hereditary nephropathy (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    Leigh-Syndrom mit nephrotischem Syndrom Has interpretation Below reference range false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Leigh-Syndrom mit nephrotischem Syndrom Has interpretation Above reference range false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Leigh-Syndrom mit nephrotischem Syndrom Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
    Leigh-Syndrom mit nephrotischem Syndrom Interprets Albumin measurement (procedure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Leigh-Syndrom mit nephrotischem Syndrom Finding site Glomerulus structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 5
    Leigh-Syndrom mit nephrotischem Syndrom Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Leigh-Syndrom mit nephrotischem Syndrom Associated morphology Degenerative abnormality (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Leigh-Syndrom mit nephrotischem Syndrom Is a Metabolic renal disease false Inferred relationship Existential restriction modifier (core metadata concept)
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

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

    REPLACED BY association reference set (foundation metadata concept)

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