epidermolysis bullosa simplex

Preferred Label : epidermolysis bullosa simplex;

MeSH definition : A form of epidermolysis bullosa characterized by serous bullae that heal without scarring. Mutations in the genes that encode KERATIN-5 and KERATIN-14 have been associated with several subtypes of epidermolysis bullosa simplex.;

MeSH synonym : bullosa simplices, epidermolysis; epidermolysis bullosa simplices;

MeSH hyponym : epidermolysis bullosa simplex kobner; Weber-Cockayne syndrome; epidermolysis bullosa herpetiformis Dowling-Meara; Epidermolysis Bullosa Simplex, Generalized; Epidermolysis Bullosa Simplex, Koebner Type; EBS, Generalized; EBSs, Generalized; Generalized EBS; Generalized EBSs; Weber Cockayne Syndrome; EBS, Acral Form; Acral Form EBS; Acral Form EBSs; EBSs, Acral Form; Epidermolysis Bullosa Simplex, Cockayne-Touraine Type; Epidermolysis Bullosa Simplex, Cockayne Touraine Type; Epidermolysis Bullosa Simplex, Weber-Cockayne Type; Epidermolysis Bullosa Simplex, Weber Cockayne Type; Epidermolysis Bullosa Simplex, Localized; Weber-Cockayne Type Epidermolysis Bullosa Simplex; Weber Cockayne Type Epidermolysis Bullosa Simplex; Epidermolysis Bullosa of Hands and Feet; Epidermolysis Bullosa Simplex, Dowling-Meara Type; Epidermolysis Bullosa Simplex, Dowling Meara Type; EBS-DM; Epidermolysis Bullosa Herpetiformis Dowling Meara; Epidermolysis Bullosa Herpetiformis, Dowling-Meara; Epidermolysis Bullosa Herpetiformis, Dowling Meara; Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type; Epidermolysis Bullosa Herpetiformis, Dowling Meara Type;

Wikipedia link : https://en.wikipedia.org/wiki/Epidermolysis bullosa simplex;

Details

Origin ID

D016110;

UMLS CUI

C0079298;

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)
- Autosomal dominant generalized epidermolysis bullosa simplex, severe form [ORDO Disease]
- Dominant epidermolysis bullosa simplex, Weber-Cockayne type (disorder) [SNOMED CT concept]
- Epidermolysis bullosa simplex, generalised severe [ICD-11 More detail]
- Epidermolysis bullosa simplex, localised [ICD-11 More detail]
- Localized epidermolysis bullosa simplex [ORDO Disease]
- epidermolysis bullosa simplex Dowling-Meara type [DO Concept]
- epidermolysis bullosa simplex generalized type [DO Concept]
- epidermolysis bullosa simplex localized type [DO Concept]
- epidermolysis bullosa simplex of the hands and feet [SNOMED Notion]
- keratin 14 [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form [ORDO Disease]
- Basal epidermolysis bullosa simplex [ICD-11 More detail]
- Epidermolysis Bullosa Simplex [NCIt concept]
- Epidermolysis bullosa simplex [ICD-10 Sub-category]
- Epidermolysis bullosa simplex [ICD-11 Category]
- Epidermolysis bullosa simplex [ICD-10 Sub-category (who)]
- Epidermolysis bullosa simplex [MedDRA LLT]
- Epidermolysis bullosa simplex [OMIM phenotypic series]
- Epidermolysis bullosa simplex [ORDO Disease]
- Epidermolysis bullosa simplex (disorder) [Inactive SNOMED CT concept]
- Epidermolysis bullosa simplex (disorder) [SNOMED CT concept]
- Generalized epidermolysis bullosa simplex (disorder) [SNOMED CT concept]
- epidermolysis bullosa simplex [DO Concept]
- epidermolysis bullosa simplex [Disease (Nov.)]
- epidermolysis bullosa simplex [SNOMED Notion]
- generalized epidermolysis bullosa simplex [SNOMED Notion]
DO Cross reference
- epidermolysis bullosa simplex [DO Concept]
Has phenotype(s) (HPO)
- Blistering, generalized [HPO term]
Manual NTBT mappings (CISMeF)
- Basal epidermolysis bullosa simplex [ORDO Disease]
- Epidermolysis bullosa simplex with anodontia/hypodontia [ORDO Disease]
- Suprabasal epidermolysis bullosa simplex [ORDO Disease]
MeSH Descriptor(s) used for indexing
- Keratin-14 [MeSH Descriptor]
- Keratin-5 [MeSH Descriptor]
Record concept(s)
- Weber-Cockayne syndrome [MeSH concept]
- epidermolysis bullosa herpetiformis Dowling-Meara [MeSH concept]
- epidermolysis bullosa simplex [MeSH concept]
- epidermolysis bullosa simplex kobner [MeSH concept]
Related MeSH Supplementary Concept(s)
- epidermolysa bullosa simplex and limb girdle muscular dystrophy [MeSH Supplementary Concept]
- epidermolysis bullosa simplex superficialis [MeSH Supplementary Concept]
- epidermolysis bullosa simplex with migratory circinate erythema [MeSH Supplementary Concept]
- epidermolysis bullosa simplex with mottled pigmentation [MeSH Supplementary Concept]
- epidermolysis bullosa simplex with pyloric atresia [MeSH Supplementary Concept]
- epidermolysis bullosa simplex, autosomal recessive [MeSH Supplementary Concept]
- epidermolysis bullosa simplex, ogna type [MeSH Supplementary Concept]
- epidermolysis bullosa, late-onset localized junctional, with mental retardation [MeSH Supplementary Concept]
See also
- Keratin-14 [MeSH Descriptor]
- Keratin-5 [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epidermolysis Bullosa Simplex [NCIt concept]
- Epidermolysis bullosa simplex [ICD-10 Sub-category]
- Epidermolysis bullosa simplex [ORDO Disease]
- Epidermolysis bullosa simplex [ICD-10 Sub-category (who)]
- Epidermolysis bullosa simplex [ICD-11 Category]
- Epidermolysis bullosa simplex [MedDRA LLT]
- Epidermolysis bullosa simplex (disorder) [SNOMED CT concept]
- epidermolysis bullosa simplex [SNOMED Notion]
- epidermolysis bullosa simplex [DO Concept]
- epidermolysis bullosa simplex [Disease (Nov.)]
Validated automatic mappings to BTNT
- Dominant epidermolysis bullosa simplex, Weber-Cockayne type (disorder) [SNOMED CT concept]
- Epidermolysis bullosa simplex 1a, generalized severe [OMIM Phenotype]
- Epidermolysis bullosa simplex 1b, generalized intermediate [OMIM Phenotype]
- Epidermolysis bullosa simplex 1c, localized [OMIM Phenotype]
- epidermolysis bullosa simplex Dowling Meara type [Disease (Nov.)]
- generalized epidermolysis bullosa simplex [Disease (Nov.)]

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