Code System Concept

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Code System Concept

Code System Concept Code	722035007
Code System Concept Name	Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
Code System Preferred Concept Name	Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)
Concept Status	Published
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Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	01/31/2017
SDO Date Created	01/31/2017
SDO Date Revised	01/31/2017
Description	MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), has characteristics of intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis and keratodermia. The syndrome has been described in four families descending from limited number of ancestors in Quebec. The disease is due to a mutation in the AP1S1 gene encoding the small subunit sigma1A of the AP-1 complex. Transmission is autosomal recessive.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3330261017	Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome	Active	Synonym	false	false
3330262012	MEDNIK syndrome	Active	Synonym	false	false
3330263019	MEDNIK (mental retardation, enteropathy, deafness, peripheral neuropathy, ichtyosis, keratodermia) syndrome	Active	Synonym	false	false
3330264013	Erythrokeratodermia variabilis 3	Active	Synonym	false	false
3330265014	Erythrokeratodermia variabilis Kamouraska type	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7
Problem Value Set	3

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Auditory system hereditary disorder (disorder) {362991006 , SNOMED-CT } Autosomal recessive ichthyosis (disorder) {402772005 , SNOMED-CT } Congenital hearing disorder (disorder) {95827002 , SNOMED-CT } Congenital keratoderma (disorder) {6874009 , SNOMED-CT } Erythrokeratoderma (disorder) {254215005 , SNOMED-CT } Erythrokeratodermia variabilis (disorder) {70041004 , SNOMED-CT } Hearing loss associated with syndrome (disorder) {232333009 , SNOMED-CT } Intellectual disability (disorder) {110359009 , SNOMED-CT } Mental retardation (disorder) {91138005 , 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,