Intellectual disability – enteropathy – deafness – neuropathy – ichthyosis – keratoderma syndrome (Q50989): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed label, description and/or aliases in pt-br, en |
Changed an Item |
||
| Property / Canonical URI | |||
| Property / Canonical URI: https://id.who.int/icd/entity/153548027 / rank | |||
Normal rank | |||
Revision as of 22:05, 13 August 2026
MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is a genetic disorder characterised by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichthyosis, Keratodermia).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_153548027 |
||
| English | Intellectual disability – enteropathy – deafness – neuropathy – ichthyosis – keratoderma syndrome |
MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is a genetic disorder characterised by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichthyosis, Keratodermia). |
