Code System Concept

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Code System Concept

Code System Concept Code	718773007
Code System Concept Name	Epithelio-exfoliative colitis and deafness syndrome (disorder)
Code System Preferred Concept Name	Epithelio-exfoliative colitis and deafness syndrome (disorder)
Concept Status	Retired
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept	Concept Code: 64226004 Concept Name: Colitis (disorder) Code System: SNOMED-CT
SDO Concept Status	Inactive
SDO Concept Status Date	07/31/2019
SDO Date Created	01/31/2017
SDO Date Revised	07/31/2019
Description	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.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3313812017	Epithelio-exfoliative colitis and deafness syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Disease	8 , 7
Problem Value Set	3

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Colitis (disorder) {64226004 , SNOMED-CT } Congenital hearing disorder (disorder) {95827002 , SNOMED-CT } Hearing loss associated with syndrome (disorder) {232333009 , SNOMED-CT } Sensorineural hearing loss (disorder) {60700002 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,