Epidermolysis bullosa simplex

ICD-11 code : EC30;

Preferred Label : Epidermolysis bullosa simplex;

ICD-11 definition : Epidermolysis bullosa simplex is the name given to a heterogeneous group of genetically-determined defects in epidermal cell-cell adhesion. These give rise to blistering in response to frictional and shearing stresses.;

ICD-11 synonym : Epidermolytic epidermolysis bullosa;

Details

Origin ID

1860717527;

UMLS CUI

C0079298;

Automatic exact mappings (from CISMeF team)
- Epidermolysis bullosa (disorder) [SNOMED CT concept]
- epidermolysis bullosa [MeSH Descriptor]
- keratin 14 [HGNC gene]
Currated CISMeF NLP mapping
- Epidermolysis Bullosa Simplex [NCIt concept]
- Epidermolysis bullosa simplex [ORDO Disease]
- Epidermolysis bullosa simplex [ICD-10 Sub-category]
- Epidermolysis bullosa simplex [MedDRA LLT]
- Epidermolysis bullosa simplex [ICD-10 Sub-category (who)]
- Epidermolysis bullosa simplex [OMIM phenotypic series]
- Epidermolysis bullosa simplex (disorder) [SNOMED CT concept]
- Epidermolysis bullosa simplex (disorder) [Inactive SNOMED CT concept]
- epidermolysis bullosa simplex [SNOMED Notion]
- epidermolysis bullosa simplex [MeSH Descriptor]
- epidermolysis bullosa simplex [DO Concept]
- epidermolysis bullosa simplex [MeSH concept]
- epidermolysis bullosa simplex [Disease (Nov.)]
ICD-10 Mapping
- Epidermolysis bullosa simplex [ICD-10 Sub-category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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