keratoderma, palmoplantar, epidermolytic

Preferred Label : keratoderma, palmoplantar, epidermolytic;

MeSH definition : An autosomal dominant hereditary skin disease characterized by epidermolytic hyperkeratosis that is strictly confined to the palms and soles. It has been associated with mutations in the gene that codes for KERATIN-9.;

MeSH synonym : epidermolytic thost-unna disease; thost-unna disease, epidermolytic; keratoderma, epidermolytic palmoplantar; keratodermas, epidermolytic palmoplantar; palmoplantar keratoderma, epidermolytic; epidermolytic palmoplantar keratoderma; epidermolytic palmoplantar keratodermas; palmoplantar keratodermas, epidermolytic; thost unna disease, epidermolytic; unna-thost disease, epidermolytic; epidermolytic unna-thost disease; unna thost disease, epidermolytic; eppk (epidermolytic palmoplantar keratoderma); eppks (epidermolytic palmoplantar keratoderma); hyperkeratosis, localized epidermolytic; epidermolytic hyperkeratoses, localized; epidermolytic hyperkeratosis, localized; hyperkeratoses, localized epidermolytic; localized epidermolytic hyperkeratoses; localized epidermolytic hyperkeratosis;

Related MeSH term : keratosis of greither; epidermolytic palmoplantar keratoderma vorner type; Greither Keratosis;

Details

Origin ID

D053546;

UMLS CUI

C1721006;

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)
- keratin 9 [ORDO Gene]
- keratin 9 [HGNC gene]
Currated CISMeF NLP mapping
- Epidermolytic Palmoplantar Keratoderma [NCIt concept]
- Epidermolytic palmoplantar keratoderma [ORDO Disease]
- Epidermolytic palmoplantar keratoderma of Vorner (disorder) [SNOMED CT concept]
- Localized epidermolytic hyperkeratosis [HPO term]
- Palmoplantar keratoderma, epidermolytic, 1 [OMIM Phenotype]
- diffuse epidermolytic palmoplantar keratoderma [Disease (Nov.)]
- epidermolytic palmoplantar keratoderma [DO Concept]
- localized epidermolytic hyperkeratosis [Disease (Nov.)]
HPO term
- Localized epidermolytic hyperkeratosis [HPO term]
Manual BTNT mappings - CISMeF
- Palmoplantar keratoderma with tonotubular keratin [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Autosomal dominant isolated diffuse palmoplantar keratoderma [ORDO Disease]
- Hereditary palmoplantar keratoderma [ORDO Disease]
MeSH Descriptor(s) used for indexing
- Keratin-9 [MeSH Descriptor]
Record concept(s)
- epidermolytic palmoplantar keratoderma vorner type [MeSH concept]
- keratoderma, palmoplantar, epidermolytic [MeSH concept]
- keratosis of greither [MeSH concept]
Related MeSH Supplementary Concept(s)
- palmoplantar keratoderma, vorner type [MeSH Supplementary Concept]
See also inter- (CISMeF)
- keratosis of Greither [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epidermolytic Palmoplantar Keratoderma [NCIt concept]
- Epidermolytic palmoplantar keratoderma [ORDO Disease]
- Localized epidermolytic hyperkeratosis [HPO term]
- Palmoplantar keratoderma, epidermolytic, 1 [OMIM Phenotype]
- localized epidermolytic hyperkeratosis [Disease (Nov.)]
Validated automatic mappings to NTBT
- diffuse palmoplantar keratoderma [Disease (Nov.)]

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