| syndroom van cerebrale dysgenesie, neuropathie, ichtyose en keratosis palmoplantaris (aandoening) | | syndroom van cerebrale dysgenesie, neuropathie, ichtyose en keratosis palmoplantaris | | CEDNIK syndrome | | Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome
CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis, 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 Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q82.8 | | Term | Overige gespecificeerde congenitale misvormingen van huid |
| Target | Q04.3 | | Term | Overige onderontwikkeling van hersenen |
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| SNOMED CT to Orphanet simple map | 66631 |
| SNOMED CT to ICD-10 extended map | | 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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