congenitaal syndroom van ichtyose, hypotrichie en scleroserende cholangitis (aandoening) | | congenitaal syndroom van ichtyose, hypotrichie en scleroserende cholangitis | | congenitaal syndroom van ichthyosis, hypotrichie en scleroserende cholangitis IHSC-syndroom neonataal ichtyose-scleroserende cholangitis-hypotrichose-syndroom NISCH-syndroom
| | Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome | | NISCH syndrome NISCH (neonatal ichthyosis, sclerosing cholangitis, hypotrichosis) syndrome Ichthyosis, hypotrichosis, sclerosing cholangitis syndrome
| | Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. |
| Id | 724278007 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | K83.0 | Term | Cholangitis |
Target | Q80.9 | Term | Congenitale ichthyose, niet gespecificeerd |
Target | Q84.0 | Term | Congenitale alopecia |
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SNOMED CT to Orphanet simple map | 59303 |
SNOMED CT to ICD-10 extended map | Target | Q80.8 | Rule | TRUE | Advice | ALWAYS Q80.8 | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | K83.0 | Rule | TRUE | Advice | ALWAYS K83.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | Q84.0 | Rule | TRUE | Advice | ALWAYS Q84.0 | Correlation | SNOMED CT source code to target map code correlation not specified |
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