| syndroom van palmoplantaire keratodermie en aritmogene cardiomyopathie (aandoening) | | syndroom van palmoplantaire keratodermie en aritmogene cardiomyopathie | | ziekte van Naxos
keratodermie met wollig haar type I
KWWH type I
keratosis palmoplantaris met aritmogene cardiomyopathie
| | Naxos disease | | Keratoderma with wooly hair type I
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome
Palmoplantar hyperkeratosis with arrhythmogenic cardiomyopathy
| | A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy and a cutaneous phenotype with manifestation of peculiar wooly hair and palmoplantar keratoderma. The disease was first described in families originating from the Greek island of Naxos. Woolly hair appears from birth, palmoplantar keratoderma develops during the first year of life and cardiomyopathy is clinically manifested by adolescence with 100% penetrance. Symptoms of right heart failure appear during the end stages of the disease. |
| | Id | 715535009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
|
| SNOMED CT to Orphanet simple map | 34217 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
