Harlequin Ichthyosis

Preferred Label : Harlequin Ichthyosis;

NCIt definition : A very rare and usually lethal autosomal recessive inherited disorder of the skin caused by mutations in the ABCA12 gene. It is characterized by the presence of hard and thick skin. There are diamond-like plates formed in the skin which are separated by fissures.;

Details

Origin ID

C98934;

UMLS CUI

C0239849;

Automatic exact mappings (from CISMeF team)
- ichthyosis, lamellar [MeSH Descriptor]
Currated CISMeF NLP mapping
- Harlequin fetus [MedDRA LLT]
- Harlequin fetus [PASCAL descriptor]
- Harlequin fetus [ICD-10 Sub-category]
- Harlequin fetus [ICD-10 Sub-category (who)]
- Harlequin foetus [MedDRA Preferred Term]
- Harlequin ichthyosis [ORDO Disease]
- Harlequin ichthyosis [Disease (Nov.)]
- Harlequin ichthyosis [ICD-11 More detail]
- 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 [MeSH concept]
- harlequin fetus [SNOMED Notion]
- harlequin type ichthyosis [MeSH Supplementary Concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
See also inter- (CISMeF)
- Harlequin fetus (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Harlequin fetus [ICD-10 Sub-category (who)]
- Harlequin fetus [MedDRA LLT]
- Harlequin fetus [ICD-10 Sub-category]
- Harlequin fetus [PASCAL descriptor]
- Harlequin fetus (disorder) [SNOMED CT concept]
- Harlequin foetus [MedDRA Preferred Term]
- Harlequin ichthyosis (disorder) [SNOMED CT concept]
- harlequin fetus [SNOMED Notion]
- harlequin fetus [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
disease_has_primary_anatomic_site
- Skin [NCIt concept]
disease_mapped_to_gene
- ABCA12 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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