| 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 rare, genetic, neurocutaneous disease characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Patients present with a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma. |
| | 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 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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