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718773007: Epithelio-exfoliative colitis and deafness syndrome (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    3313811012 Epithelio-exfoliative colitis and deafness syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3313812017 Epithelio-exfoliative colitis and deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3313813010 This syndrome has characteristics of the association of severe congenital colitis with sensorineural deafness. So far, two cases with neonatal onset have been described. Endoscopy reveals a smooth mucosa without ulcerations but histological studies reveal abnormal vacuolated epithelial cells with premature exfoliation within the glandular lumens, accompanied by increased mucus production and an increase in cholinergic fibres within the lamina propria. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
    3313811012 Epithelio-exfoliative colitis and deafness syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    3313811012 Epithelio-exfoliative colitis and deafness syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3313812017 Epithelio-exfoliative colitis and deafness syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    3313812017 Epithelio-exfoliative colitis and deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3313813010 This syndrome has characteristics of the association of severe congenital colitis with sensorineural deafness. So far, two cases with neonatal onset have been described. Endoscopy reveals a smooth mucosa without ulcerations but histological studies reveal abnormal vacuolated epithelial cells with premature exfoliation within the glandular lumens, accompanied by increased mucus production and an increase in cholinergic fibres within the lamina propria. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Epithelio-exfoliative colitis and deafness syndrome Is a Sensorineural hearing loss false Inferred relationship Existential restriction modifier (core metadata concept)
    Epithelio-exfoliative colitis and deafness syndrome Is a Colitis (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
    Epithelio-exfoliative colitis and deafness syndrome Is a Congenital hearing disorder false Inferred relationship Existential restriction modifier (core metadata concept)
    Epithelio-exfoliative colitis and deafness syndrome Is a Hearing loss associated with syndrome false Inferred relationship Existential restriction modifier (core metadata concept)
    Epithelio-exfoliative colitis and deafness syndrome Finding site Ear structure false Inferred relationship Existential restriction modifier (core metadata concept)
    Epithelio-exfoliative colitis and deafness syndrome Interprets Hearing false Inferred relationship Existential restriction modifier (core metadata concept)
    Epithelio-exfoliative colitis and deafness syndrome Interprets entité observable fonctionnelle false Inferred relationship Existential restriction modifier (core metadata concept)
    Epithelio-exfoliative colitis and deafness syndrome Associated morphology inflammation false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Epithelio-exfoliative colitis and deafness syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Epithelio-exfoliative colitis and deafness syndrome Finding site Colon structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

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

    POSSIBLY EQUIVALENT TO association reference set

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