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

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

    Descriptions:

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

    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
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a Multisystem disorder false Inferred relationship Existential restriction modifier
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a Hypocalciuria false Inferred relationship Existential restriction modifier
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a Familial hypokalemic and hypomagnesemic tubulopathy false Inferred relationship Existential restriction modifier
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a Hereditary nephropathy false Inferred relationship Existential restriction modifier
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Associated morphology Inflammation false Inferred relationship Existential restriction modifier 1
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Finding site Structure of parenchyma of kidney false Inferred relationship Existential restriction modifier 1
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Associated morphology Inflammation false Inferred relationship Existential restriction modifier 2
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Finding site Structure of interstitial tissue of kidney false Inferred relationship Existential restriction modifier 2
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a Renal hypocalciuria false Inferred relationship Existential restriction modifier
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a Hereditary ataxia false Inferred relationship Existential restriction modifier
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Finding site Structure of interstitial tissue of kidney false Inferred relationship Existential restriction modifier 1
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Associated morphology Inflammatory morphology false Inferred relationship Existential restriction modifier 1
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Associated morphology Inflammatory morphology false Inferred relationship Existential restriction modifier 2
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Finding site Renal tubule structure false Inferred relationship Existential restriction modifier 2
    Inbound Relationships Type Active Source Characteristic Refinability Group

    This concept is not in any reference sets

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