Harlequin ichthyosis

Preferred Label : Harlequin ichthyosis;

ICD-11 definition : Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; ). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.;

ICD-11 synonym : Harlequin colour change syndrome;

Details

Origin ID

895541233;

Currated CISMeF NLP mapping
- Harlequin Ichthyosis [NCIt concept]
- Harlequin fetus [MedDRA LLT]
- Harlequin fetus [ICD-10 Sub-category]
- Harlequin fetus [ICD-10 Sub-category (who)]
- Harlequin fetus [PASCAL descriptor]
- Harlequin foetus [MedDRA Preferred Term]
- Harlequin ichthyosis [ORDO Disease]
- Harlequin ichthyosis [Disease (Nov.)]
- Harlequin ichthyosis (disorder) [SNOMED CT concept]
- Harlequin type ichthyosis [MeSH concept]
- Ichthyosis, congenital, autosomal recessive 4b [OMIM Phenotype]
- autosomal recessive congenital ichthyosis 4B [DO Concept]
- harlequin fetus [SNOMED Notion]
- harlequin fetus [MeSH concept]
- harlequin type ichthyosis [MeSH Supplementary Concept]
See also inter- (CISMeF)
- ichthyosis, lamellar [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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