Cerebral dysgenesis – neuropathy – ichthyosis – keratoderma syndrome

Preferred Label : Cerebral dysgenesis – neuropathy – ichthyosis – keratoderma syndrome;

ICD-11 definition : CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Clinically, it is defined by a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma.;

ICD-11 synonym : CEDNIK syndrome; CEDNIK - [Cerebral dysgenesis – neuropathy – ichthyosis – keratoderma syndrome] syndrome;

Details

Origin ID

170763135;

Automatic exact mappings (from CISMeF team)
- CEDNIK syndrome [DO Concept]
- CEDNIK syndrome [ORDO Disease]
- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome [OMIM Phenotype]
- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome [MeSH concept]
- Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) [SNOMED CT concept]
- cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome [MeSH Supplementary Concept]

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