Intellectual disability – enteropathy – deafness – neuropathy – ichthyosis

Preferred Label : Intellectual disability – enteropathy – deafness – neuropathy – ichthyosis – keratoderma syndrome;

ICD-11 definition : MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is a genetic disorder characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).;

ICD-11 synonym : Mental retardation – enteropathy – deafness – neuropathy – ichthyosis – keratoderma syndrome; MEDNIK - [Mental retardation – enteropathy – deafness – neuropathy – ichthyosis – keratoderma] syndrome; MEDNIK syndrome;

Details

Origin ID

153548027;

Automatic exact mappings (from CISMeF team)
- Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) [SNOMED CT concept]
- MEDNIK syndrome [DO Concept]
- MEDNIK syndrome [ORDO Disease]
- erythrokeratodermia variabilis 3 [MeSH Supplementary Concept]

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