Junctional epidermolysis bullosa, generalised intermediate type

Preferred Label : Junctional epidermolysis bullosa, generalised intermediate type;

ICD-11 definition : Junctional epidermolysis bullosa, generalised intermediate type (JEB-gen intermed) is an autosomal recessive blistering disorder characterised by generalised trauma-induced epidermal separation at the level of the lamina lucida from birth.;

ICD-11 synonym : GABEB - [generalised atrophic benign epidermolysis bullosa]; JEB-gen intermed; JEB - [junctional epidermolysis bullosa] non-Herlitz, generalised; generalised atrophic benign epidermolysis bullosa; JEB-nH gen - [junctional epidermolysis bullosa, non-Herlitz, generalised]; JEB-gen intermed - [junctional epidermolysis bullosa]; JEB-nH gen; JEB non-Herlitz, generalised; junctional epidermolysis bullosa, non-Herlitz, generalised; junctional epidermolysis bullosa;

ICD-11 acronym : GABEB;

Details

Origin ID

1027624622;

UMLS CUI

C0268374;

Automatic exact mappings (from CISMeF team)
- Junctional Epidermolysis Bullosa [NCIt concept]
- Junctional epidermolysis bullosa [ORDO Disease]
- Junctional epidermolysis bullosa (disorder) [SNOMED CT concept]
- Junctional epidermolysis bullosa mitis (disorder) [SNOMED CT concept]
- epidermolysis bullosa, junctional [MeSH Descriptor]
Currated CISMeF NLP mapping
- Epidermolysis bullosa, junctional 1a, intermediate [OMIM Phenotype]
- Intermediate generalized junctional epidermolysis bullosa [ORDO Disease]
- Junctional epidermolysis bullosa non-Herlitz type (disorder) [SNOMED CT concept]
- Junctional epidermolysis bullosa, non-Herlitz type [ORDO Disease]
- epidermolysis bullosa, junctional, Non-Herlitz type [MeSH concept]
- epidermolysis bullosa, junctional, Non-Herlitz type [MeSH Supplementary Concept]
- junctional epidermolysis bullosa non-Herlitz type [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adult junctional epidermolysis bullosa (disorder) [Inactive SNOMED CT concept]
- Epidermolysis bullosa, junctional 1a, intermediate [OMIM Phenotype]
- Intermediate generalized junctional epidermolysis bullosa [ORDO Disease]
- Junctional epidermolysis bullosa non-Herlitz type (disorder) [SNOMED CT concept]
- Junctional epidermolysis bullosa, non-Herlitz type [ORDO Disease]
- adult junctional epidermolysis bullosa [SNOMED Notion]
- epidermolysis bullosa, junctional, Non-Herlitz type [MeSH concept]
- epidermolysis bullosa, junctional, Non-Herlitz type [MeSH Supplementary Concept]
- junctional epidermolysis bullosa non-Herlitz type [DO Concept]
Validated automatic mappings to BTNT
- Epidermolysis bullosa, junctional 4, intermediate [OMIM Phenotype]
Validated automatic mappings to NTBT
- Epidermolysis bullosa, junctional [OMIM phenotypic series]

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