Epidermolysis Bullosa Dystrophica

Preferred Label : Epidermolysis Bullosa Dystrophica;

NCIt definition : A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes.;

Details

Origin ID

C84691;

UMLS CUI

C0079294;

Currated CISMeF NLP mapping
- Dystrophic epidermolysis bullosa [ORDO Disease]
- Dystrophic epidermolysis bullosa [PASCAL descriptor]
- Dystrophic epidermolysis bullosa [ICD-11 Category]
- Dystrophic epidermolysis bullosa [MedDRA LLT]
- Dystrophic epidermolysis bullosa (disorder) [SNOMED CT concept]
- Epidermolysis bullosa dystrophica [ICD-10 Sub-category]
- Epidermolysis bullosa dystrophica [ICD-10 Sub-category (who)]
- epidermolysis bullosa dystrophica [DO Concept]
- epidermolysis bullosa dystrophica [Disease (Nov.)]
- epidermolysis bullosa dystrophica [MeSH Descriptor]
- epidermolysis bullosa dystrophica [MeSH concept]
DO Cross reference
- epidermolysis bullosa dystrophica [DO Concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dystrophic epidermolysis bullosa [ORDO Disease]
- Dystrophic epidermolysis bullosa [PASCAL descriptor]
- Dystrophic epidermolysis bullosa [ICD-11 Category]
- Dystrophic epidermolysis bullosa [MedDRA LLT]
- Dystrophic epidermolysis bullosa (disorder) [SNOMED CT concept]
- Epidermolysis bullosa dystrophica [ICD-10 Sub-category]
- Epidermolysis bullosa dystrophica [ICD-10 Sub-category (who)]
- epidermolysis bullosa dystrophica [DO Concept]
- epidermolysis bullosa dystrophica [Disease (Nov.)]
- epidermolysis bullosa dystrophica [MeSH concept]
- epidermolysis bullosa dystrophica [MeSH Descriptor]
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]
disease_mapped_to_gene
- COL7A1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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