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

Expanded Value Set

Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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