Epidermolytic Ichthyosis

Preferred Label : Epidermolytic Ichthyosis;

NCIt synonyms : Epidermolytic Hyperkeratosis; Bullous Congenital Ichthyosiform Erythroderma; BCIE;

NCIt definition : An autosomal dominant inherited skin disorder caused by mutations in the KRT1 and KRT10 genes. It is manifested at birth and is characterized by generalized erythema, skin blisters and skin fragility.;

Details

Origin ID

C62569;

UMLS CUI

C0079153;

Automatic exact mappings (from CISMeF team)
- Dominant congenital ichthyosiform erythroderma (disorder) [Inactive SNOMED CT concept]
- Vaccin BCG [UNVA Valence]
- bullous congenital ichthyosiform erythroderma [DO Concept]
- keratin 10 [HGNC gene]
- keratin 10 [ORDO Gene]
- mycobacterium bovis [MeSH Descriptor]
Currated CISMeF NLP mapping
- Autosomal dominant epidermolytic ichthyosis [ORDO Disease]
- Bullous ichthyosiform erythroderma (disorder) [SNOMED CT concept]
- Congenital bullous ichthyosiform erythroderma [ICD-10 Sub-category]
- Congenital bullous ichthyosiform erythroderma [HPO term]
- Epidermolytic hyperkeratosis [PASCAL descriptor]
- Epidermolytic hyperkeratosis [OMIM phenotypic series]
- Epidermolytic hyperkeratosis [MedDRA LLT]
- Epidermolytic ichthyosis [ICD-11 More detail]
- Epidermolytic ichthyosis [MedDRA LLT]
- Epidermolytic palmoplantar keratoderma of Vorner (disorder) [SNOMED CT concept]
- epidermolytic hyperkeratosis [Disease (Nov.)]
- epidermolytic hyperkeratosis [DO Concept]
- hyperkeratosis, epidermolytic [MeSH Descriptor]
- hyperkeratosis, epidermolytic [MeSH concept]
DO Cross reference
- epidermolytic hyperkeratosis [DO Concept]
False automatic mappings
- BCG (BACILLUS CALMETTE-GUÉRIN) BACTERIA [SMS substance]
Has associated anatomic sites
- Integumentary System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant epidermolytic ichthyosis [ORDO Disease]
- Bullous ichthyosiform erythroderma [MedDRA LLT]
- Bullous ichthyosiform erythroderma (disorder) [SNOMED CT concept]
- Congenital bullous ichthyosiform erythroderma [ICD-10 Sub-category]
- Congenital bullous ichthyosiform erythroderma [HPO term]
- Epidermolytic hyperkeratosis [MedDRA LLT]
- Epidermolytic hyperkeratosis 1 [OMIM Phenotype]
- Epidermolytic ichthyosis [MedDRA LLT]
- epidermolytic hyperkeratosis [DO Concept]
- epidermolytic hyperkeratosis [Disease (Nov.)]
- hyperkeratosis, epidermolytic [MeSH concept]
- hyperkeratosis, epidermolytic [MeSH Descriptor]
Validated automatic mappings to BTNT
- Epidermolytic hyperkeratosis 1 [OMIM Phenotype]
- diffuse epidermolytic palmoplantar keratoderma [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Congenital Lesion [NCIt concept]
- Cutaneous Involvement [NCIt concept]
disease_has_primary_anatomic_site
- Skin [NCIt concept]
disease_mapped_to_gene
- KRT1 Gene [NCIt concept]
- KRT10 Gene [NCIt concept]
is_finding_of_disease
- Epidermolytic Acanthoma [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

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