hyperkeratosis, epidermolytic

Preferred Label : hyperkeratosis, epidermolytic;

MeSH definition : A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHRODERMA and severe hyperkeratosis. It is manifested at birth by blisters followed by the appearance of thickened, horny, verruciform scales over the entire body, but accentuated in flexural areas. Mutations in the genes that encode KERATIN-1 and KERATIN-10 have been associated with this disorder.;

MeSH synonym : hyperkeratoses, epidermolytic; ichthyosiform erythroderma, bullous congenital; congenital bullous ichthyosiform erythroderma; epidermolytic hyperkeratoses; epidermolytic hyperkeratosis; congenital ichthyosiform erythroderma, bullous; Bullous Ichthyosiform Erythroderma Congenital; bullous congenital ichthyosiform erythroderma; erythroderma ichthyosiforme, bullous; bullous erythroderma ichthyosiforme; Bullous Erythroderma Ichthyosiformes; Erythroderma Ichthyosiformes, Bullous; Ichthyosiforme, Bullous Erythroderma; Ichthyosiformes, Bullous Erythroderma; bullous ichthyosiform erythroderma; bullous ichthyosiform erythrodermas; erythroderma, bullous ichthyosiform; erythrodermas, bullous ichthyosiform; ichthyosiform erythroderma, bullous; ichthyosiform erythrodermas, bullous; bullous erythroderma ichthyosiformis congenita of brocq; epidermolytic ichthyosis;

Wikipedia link : https://en.wikipedia.org/wiki/Bullous congenital ichthyosiform erythroderma;

Details

Origin ID

D017488;

UMLS CUI

C0079153;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Bullous ichtyosiform erythroderma [PASCAL descriptor]
- Congenital bullous ichthyosiform erythroderma [ICD-10 Sub-category (who)]
- Congenital non bullous ichthyosiform erythroderma (disorder) [SNOMED CT concept]
- Dominant congenital ichthyosiform erythroderma (disorder) [Inactive SNOMED CT concept]
- KRT10 wt Allele [NCIt concept]
- bullous congenital ichthyosiform erythroderma [DO Concept]
- dominant congenital ichthyosiform erythroderma [SNOMED Notion]
- keratin 10 [HGNC gene]
- keratin 10 [ORDO Gene]
Currated CISMeF NLP mapping
- 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 Ichthyosis [NCIt concept]
- Epidermolytic hyperkeratosis [PASCAL descriptor]
- Epidermolytic hyperkeratosis [MedDRA LLT]
- Epidermolytic hyperkeratosis 1 [OMIM Phenotype]
- Epidermolytic ichthyosis [ICD-11 More detail]
- Epidermolytic ichthyosis [MedDRA LLT]
- Epidermolytic palmoplantar keratoderma of Vorner (disorder) [SNOMED CT concept]
- epidermolytic hyperkeratosis [DO Concept]
- epidermolytic hyperkeratosis [Disease (Nov.)]
DO Cross reference
- epidermolytic hyperkeratosis [DO Concept]
HPO term
- Congenital bullous ichthyosiform erythroderma [HPO term]
Manual NTBT mappings (CISMeF)
- Inherited ichthyosis [ORDO Disease]
MeSH Descriptor(s) used for indexing
- Keratin-1 [MeSH Descriptor]
- Keratin-10 [MeSH Descriptor]
Record concept(s)
- hyperkeratosis, epidermolytic [MeSH concept]
Related MeSH Supplementary Concept(s)
- epidermolytic hyperkeratosis, Late-Onset [MeSH Supplementary Concept]
- ichthyosis, cyclic, with epidermolytic hyperkeratosis [MeSH Supplementary Concept]
See also
- Keratin-1 [MeSH Descriptor]
- Keratin-10 [MeSH Descriptor]
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 Ichthyosis [NCIt concept]
- Epidermolytic hyperkeratosis [MedDRA LLT]
- Epidermolytic hyperkeratosis 1 [OMIM Phenotype]
- Epidermolytic ichthyosis [MedDRA LLT]
- epidermolytic hyperkeratosis [DO Concept]
- epidermolytic hyperkeratosis [Disease (Nov.)]
Validated automatic mappings to BTNT
- diffuse epidermolytic palmoplantar keratoderma [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients