| syndroom van cerebrale dysgenesie, neuropathie, ichtyose en keratosis palmoplantaris (aandoening) | | syndroom van cerebrale dysgenesie, neuropathie, ichtyose en keratosis palmoplantaris | | CEDNIK syndrome | | CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis, keratoderma) syndrome
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome
| | A neurocutaneous syndrome with characteristics of severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. It has been described so far in seven affected individuals (four boys and three girls) from two consanguineous families. Clinically, the patients display a unique constellation of clinical signs described with the acronym CEDNIK: CErebral dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma. It is caused by mutations in the SNAP29 gene (22q11.2) that encodes a SNARE protein involved in vesicle fusion. The disease is inherited as an autosomal recessive condition. |
| | Id | 722385008 | | Status | Primitive |
| DHD Diagnosethesaurus-referentieset |
| referentieset met complexe 'mapping' naar ICD-10 | | Target | Q82.8 | | Rule | TRUE | | Advice | ALWAYS Q82.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | Q04.3 | | Rule | TRUE | | Advice | ALWAYS Q04.3 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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