loading...| Preferred Name | Harlequin ichthyosis | |
| Synonyms |
Ichthyosis congenita, harlequin type Ichthyosis fetalis, Harlequin type HI |
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| Definitions |
Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). 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. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_457 |
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| database_cross_reference |
OMIM:242500 ICD10:Q80.4 UMLS:C0239849 UMLS:C0598226 MedDRA:10019163 |
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| definition |
Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). 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. |
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| definition_citation |
orphanet |
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| has_exact_synonym |
Ichthyosis congenita, harlequin type Ichthyosis fetalis, Harlequin type HI |
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| label |
Harlequin ichthyosis |
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| preferred label |
Harlequin ichthyosis |
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| prefLabel |
Harlequin ichthyosis |
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| subClassOf |