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700448000: Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    2990594011 EAST (Epilepsy, ataxia, sensorineural deafness, and tubulopathy) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
    2990596013 Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    2990613014 Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a Autosomal recessive hereditary disorder false Inferred relationship Some
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a Multisystem disorder false Inferred relationship Some
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a Hypocalciuria false Inferred relationship Some
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a Familial hypokalaemic and hypomagnesaemic tubulopathy false Inferred relationship Some
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a Hereditary nephropathy (disorder) false Inferred relationship Some
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Associated morphology Inflammation false Inferred relationship Some 1
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Finding site Structure of parenchyma of kidney false Inferred relationship Some 1
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Associated morphology Inflammation false Inferred relationship Some 2
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Finding site Structure of interstitial tissue of kidney false Inferred relationship Some 2
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a Renal hypocalciuria (disorder) false Inferred relationship Some
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a Hereditary ataxia (disorder) false Inferred relationship Some
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Finding site Structure of interstitial tissue of kidney false Inferred relationship Some 1
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Associated morphology Inflammatory morphology (morphologic abnormality) false Inferred relationship Some 1
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Associated morphology Inflammatory morphology (morphologic abnormality) false Inferred relationship Some 2
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Finding site Renal tubule structure (body structure) false Inferred relationship Some 2
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    SAME AS association reference set (foundation metadata concept)

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