Epidermolysis Bullosa

Preferred Label : Epidermolysis Bullosa;

NCIt definition : An autosomal recessive inherited skin disorder caused by mutations in the genes encoding keratins 5 and 14, collagen VII or laminin 5. It is characterized by skin fragility and the formation of blisters. The blisters may become large and ulcerated, resulting in skin infections and loss of body fluids.;

Alternative definition : NCI-GLOSS: A group of chronic skin disorders in which fluid-filled blisters form on the skin and mucosa (the moist, inner lining of some organs and body cavities). Epidermolysis bullosa is inherited and usually starts at birth. Patients with epidermolysis bullosa may be at increased risk of squamous cell cancer of the skin.;

Codes from synonyms : CDR0000559137;

Details

Origin ID

C67383;

UMLS CUI

C0014527;

Currated CISMeF NLP mapping
- Acquired epidermolysis bullosa [MedDRA Preferred Term]
- Epidermolysis bullosa [PASCAL descriptor]
- Epidermolysis bullosa [ICD-10 category]
- Epidermolysis bullosa [ICD-10 category (who)]
- Epidermolysis bullosa [MedDRA Preferred Term]
- Epidermolysis bullosa (disorder) [SNOMED CT concept]
- Epidermolysis bullosa, unspecified [ICD-10 Sub-category (who)]
- Epidermolysis bullosa, unspecified [ICD-10 Sub-category]
- Inherited epidermolysis bullosa [ORDO Disease]
- epidermolysis bullosa [DO Concept]
- epidermolysis bullosa [Disease (Nov.)]
- epidermolysis bullosa [MeSH Descriptor]
- epidermolysis bullosa [MeSH concept]
- epidermolysis bullosa, nos [SNOMED Notion]
DO Cross reference
- epidermolysis bullosa [DO Concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Epidermolysis bullosa [ICD-10 category]
- Epidermolysis bullosa [PASCAL descriptor]
- Epidermolysis bullosa [ICD-10 category (who)]
- Epidermolysis bullosa [MedDRA Preferred Term]
- Epidermolysis bullosa (disorder) [SNOMED CT concept]
- Epidermolysis bullosa, unspecified [ICD-10 Sub-category]
- Epidermolysis bullosa, unspecified [ICD-10 Sub-category (who)]
- epidermolysis bullosa [DO Concept]
- epidermolysis bullosa [Disease (Nov.)]
- epidermolysis bullosa [MeSH concept]
- epidermolysis bullosa [MeSH Descriptor]
- epidermolysis bullosa, nos [SNOMED Notion]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network 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) :

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