Intellectual disability – enteropathy – deafness – neuropathy – ichthyosis – keratoderma syndrome (Q50989): Difference between revisions
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A síndrome MEDNIK, anteriormente conhecida como Eritroqueratodermia variável tipo 3 (EKV3), é um transtorno genético caracterizado por déficit intelectual, enteropatia, perda auditiva neurossensorial, neuropatia periférica, ictiose lamelar e eritrodérmica e ceratodermia (MEDNIK correponde a retardo Mental, Enteropatia, "Deafness" (surdez em inglês), Neuropatia periférica, Ictiose, Ceratodermia). | |||||||||||||||
| description / en | description / en | ||||||||||||||
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). | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/153548027 / rank | |||||||||||||||
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CID11:ID_153548027 | |||||||||||||||
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dki-india-ID_153548027 | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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13 August 2026
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Latest 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 |
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| default for all languages | ID_153548027 |
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| 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). |
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CID11:ID_153548027
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dki-india-ID_153548027
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Concluído
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13 August 2026
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