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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
    14022191000172116 encéphalopathie nécrosante subaigüe infantile avec syndrome néphrotique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
    14022201000172118 syndrome de Leigh avec syndrome néphrotique fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
    5259031000172112 Leigh-syndroom met nefrotisch syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
    5259041000172117 subacute necrotiserende encefalopathie met nefrotisch syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
    5259051000172115 syndroom van Leigh met nefrotisch syndroom nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

    0 descendants.

    Expanded Value Set

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

    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set (foundation metadata concept)

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