Junctional epidermolysis bullosa, generalised severe

Preferred Label : Junctional epidermolysis bullosa, generalised severe;

ICD-11 definition : Generalised severe junctional epidermolysis bullosa (JEB-gen sev) is a life-threatening autosomal recessive blistering disorder with extensive extensive epidermal separation at the level of the lamina lucida from birth. There is a high mortality in infancy.;

ICD-11 synonym : Epidermolysis bullosa letalis; JEB-gen sev - [junctional epidermolysis bullosa, generalised severe]; Herlitz junctional epidermolysis bullosa gravis; JEB-gen sev; JEB-H - [junctional epidermolysis bullosa, Herlitz]; Herlitz syndrome; junctional epidermolysis bullosa, Herlitz;

ICD-11 acronym : JEB-H;

Details

Origin ID

1267734927;

Automatic exact mappings (from CISMeF team)
- Epidermolysis bullosa hereditaria letalis [PASCAL descriptor]
- epidermolysis bullosa, junctional [MeSH Descriptor]
- junctional epidermolysis bullosa, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- Epidermolysis bullosa letalis [ICD-10 Sub-category]
- Epidermolysis bullosa letalis [ICD-10 Sub-category (who)]
- Epidermolysis bullosa, junctional 1b, severe [OMIM Phenotype]
- Junctional epidermolysis bullosa gravis of Herlitz (disorder) [SNOMED CT concept]
- Severe generalized junctional epidermolysis bullosa [ORDO Disease]
- epidermolysis bullosa letalis [MeSH concept]
- junctional epidermolysis bullosa Herlitz type [DO Concept]

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