Neonatal sclerosing cholangitis – ichthyosis – hypotrichosis syndrome

Preferred Label : Neonatal sclerosing cholangitis – ichthyosis – hypotrichosis syndrome;

ICD-11 definition : Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.;

ICD-11 synonym : NISCH syndrome; NISCH - [Neonatal sclerosing cholangitis – ichthyosis – hypotrichosis] syndrome;

Details

Origin ID

1192293625;

Currated CISMeF NLP mapping
- Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis [OMIM Phenotype]
- Neonatal ichthyosis-sclerosing cholangitis syndrome [ORDO Disease]
- Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) [SNOMED CT concept]
- ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis [MeSH Supplementary Concept]
- ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis [MeSH concept]
- neonatal ichthyosis sclerosing cholangitis syndrome [Disease (Nov.)]

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