Darier Disease

Preferred Label : Darier Disease;

NCIt synonyms : Keratosis Follicularis;

NCIt definition : An autosomal dominant inherited chronic skin disorder caused by mutations in the ATP2A2 gene. It is characterized by the development of yellow-brown keratotic skin papules in the neck, ears, forehead, chest, back and groin. It is associated with fragility of the free margins of the nails.;

Details

Origin ID

C84665;

UMLS CUI

C0022595;

Automatic exact mappings (from CISMeF team)
- keratosis follicularis [DO Concept]
Currated CISMeF NLP mapping
- Darier disease [Disease (Nov.)]
- Darier disease [PASCAL descriptor]
- Darier disease [ICD-11 More detail]
- Darier disease [ORDO Disease]
- Darier disease (disorder) [SNOMED CT concept]
- Darier's disease [MedDRA LLT]
- Darier-white disease [OMIM Phenotype]
- Follicular keratosis (disorder) [SNOMED CT concept]
- Keratosis follicular [MedDRA Preferred Term]
- darier disease [MeSH Descriptor]
- darier disease [MeSH concept]
- keratosis follicularis [SNOMED Notion]
DO Cross reference
- keratosis follicularis [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Darier disease [ORDO Disease]
- Darier disease [PASCAL descriptor]
- Darier disease [Disease (Nov.)]
- Darier disease (disorder) [SNOMED CT concept]
- Darier's disease [MedDRA LLT]
- Darier-white disease [OMIM Phenotype]
- Keratosis follicular [MedDRA Preferred Term]
- darier disease [MeSH concept]
- darier disease [MeSH Descriptor]
- keratosis follicularis [DO Concept]
- keratosis follicularis [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ATP2A2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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