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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
    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 Only initial character case insensitive (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 Only initial character 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 Existential restriction modifier (core metadata concept)
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a trouble multisytémique false Inferred relationship Existential restriction modifier (core metadata concept)
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a Hypocalciuria false Inferred relationship Existential restriction modifier (core metadata concept)
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a tubulopathie familiale avec hypokaliémie et hypomagnésémie false Inferred relationship Existential restriction modifier (core metadata concept)
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a Hereditary nephropathy (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Associated morphology inflammation false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Finding site Structure of parenchyma of kidney false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Associated morphology inflammation false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Finding site Structure of interstitial tissue of kidney false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a Renal hypocalciuria (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a Hereditary ataxia (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Finding site Structure of interstitial tissue of kidney false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Associated morphology Inflammatory morphology (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Associated morphology Inflammatory morphology (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Finding site Renal tubule structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

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

    SAME AS association reference set (foundation metadata concept)

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