Junctional Epidermolysis Bullosa

Preferred Label : Junctional Epidermolysis Bullosa;

NCIt definition : Epidermolysis bullosa characterized by separation of the skin through the lamina lucida resulting in blister formation. It includes lethal and non-lethal variants.;

Details

Origin ID

C90598;

UMLS CUI

C0079301;

Automatic exact mappings (from CISMeF team)
- Junctional epidermolysis bullosa, generalised intermediate type [ICD-11 More detail]
Currated CISMeF NLP mapping
- Congenital junctional epidermolysis bullosa (disorder) [SNOMED CT concept]
- Epidermolysis bullosa, junctional [OMIM phenotypic series]
- Junctional epidermolysis bullosa [PASCAL descriptor]
- Junctional epidermolysis bullosa [ICD-11 Category]
- Junctional epidermolysis bullosa [MedDRA LLT]
- Junctional epidermolysis bullosa [ORDO Disease]
- Junctional epidermolysis bullosa (disorder) [SNOMED CT concept]
- Junctional epidermolysis bullosa inversa [ICD-11 More detail]
- epidermolysis bullosa, junctional [MeSH Descriptor]
- epidermolysis bullosa, junctional [MeSH concept]
- junctional epidermolysis bullosa [Disease (Nov.)]
- junctional epidermolysis bullosa [DO Concept]
- junctional epidermolysis bullosa, nos [SNOMED Notion]
DO Cross reference
- junctional epidermolysis bullosa [DO Concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital junctional epidermolysis bullosa (disorder) [SNOMED CT concept]
- Junctional epidermolysis bullosa [ORDO Disease]
- Junctional epidermolysis bullosa [PASCAL descriptor]
- Junctional epidermolysis bullosa [MedDRA LLT]
- Junctional epidermolysis bullosa (disorder) [SNOMED CT concept]
- congenital junctional epidermolysis bullosa [SNOMED Notion]
- epidermolysis bullosa, junctional [MeSH concept]
- epidermolysis bullosa, junctional [MeSH Descriptor]
- junctional epidermolysis bullosa [DO Concept]
- junctional epidermolysis bullosa [Disease (Nov.)]
- junctional epidermolysis bullosa, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Adult junctional epidermolysis bullosa (disorder) [Inactive SNOMED CT concept]
- congenital junctional epidermolysis bullosa [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Skin [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients