Epidermolysis Bullosa Simplex

Preferred Label : Epidermolysis Bullosa Simplex;

NCIt definition : A genetic skin disorder caused by mutations in the KRT5 and KRT14 genes. It is characterized by the formation of blisters and increased fragility of the skin.;

Details

Origin ID

C84692;

UMLS CUI

C0079298;

Automatic exact mappings (from CISMeF team)
- keratin 14 [HGNC gene]
DO Cross reference
- epidermolysis bullosa simplex [DO Concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epidermolysis bullosa simplex [ICD-10 Sub-category]
- Epidermolysis bullosa simplex [ORDO Disease]
- Epidermolysis bullosa simplex [ICD-11 Category]
- Epidermolysis bullosa simplex [MedDRA LLT]
- Epidermolysis bullosa simplex [ICD-10 Sub-category (who)]
- Epidermolysis bullosa simplex (disorder) [SNOMED CT concept]
- epidermolysis bullosa simplex [DO Concept]
- epidermolysis bullosa simplex [Disease (Nov.)]
- epidermolysis bullosa simplex [MeSH concept]
- epidermolysis bullosa simplex [SNOMED Notion]
- epidermolysis bullosa simplex [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]
related_to_genetic_biomarker
- KRT14 Gene [NCIt concept]
- KRT5 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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