epidermolysis bullosa, junctional

Preferred Label : epidermolysis bullosa, junctional;

MeSH definition : Form of epidermolysis bullosa having onset at birth or during the neonatal period and transmitted through autosomal recessive inheritance. It is characterized by generalized blister formation, extensive denudation, and separation and cleavage of the basal cell plasma membranes from the basement membrane.;

MeSH synonym : junctional epidermolysis bullosa; epidermolysis bullosa junctionalis, disentis type; epidermolysis bullosa, generalized atrophic benign; epidermolysis bullosa junctionalis, severe nonlethal;

MeSH hyponym : epidermolysis bullosa letalis; epidermolysis bullosa progressiva; Bullosa Letali, Epidermolysis; Bullosa Letalis, Epidermolysis; Epidermolysis Bullosa Letali; Letali, Epidermolysis Bullosa; Letalis, Epidermolysis Bullosa; Herlitz Disease; Disease, Herlitz; Lethal Junctional Epidermolysis Bullosa; Herlitz-Pearson-Type Epidermolysis Bullosa; Bullosa, Herlitz-Pearson-Type Epidermolysis; Epidermolysis Bullosa, Herlitz-Pearson-Type; Epidermolysis Bullosa, Junctional, Herlitz Type; Herlitz-Pearson Type Epidermolysis Bullosa; Herlitz Pearson Type Epidermolysis Bullosa; Epidermolysis Bullosa Junctionalis, Herlitz Type; Herlitz's Disease; Disease, Herlitz's; Herlitzs Disease; Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type; Epidermolysis Bullosa Junctionalis, Progressive;

Details

Origin ID

D016109;

UMLS CUI

C0079301;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Adult junctional epidermolysis bullosa (disorder) [Inactive SNOMED CT concept]
- Epidermolysis Bullosa, Junctional, with Pyloric Atresia [NCIt concept]
- Epidermolysis bullosa hereditaria letalis [PASCAL descriptor]
- Epidermolysis bullosa letalis [ICD-10 Sub-category]
- Epidermolysis bullosa letalis [ICD-10 Sub-category (who)]
- Epidermolysis bullosa, junctional 1a, intermediate [OMIM Phenotype]
- Epidermolysis bullosa, junctional 4, intermediate [OMIM Phenotype]
- Epidermolysis bullosa, junctional 5b, with pyloric atresia [OMIM Phenotype]
- Junctional epidermolysis bullosa gravis of Herlitz (disorder) [SNOMED CT concept]
- Junctional epidermolysis bullosa mitis (disorder) [SNOMED CT concept]
- Junctional epidermolysis bullosa with pyloric atresia [ICD-11 More detail]
- Junctional epidermolysis bullosa with pyloric atresia [ORDO Disease]
- Junctional epidermolysis bullosa, generalised intermediate type [ICD-11 More detail]
- Junctional epidermolysis bullosa, generalised severe [ICD-11 More detail]
- Junctional epidermolysis bullosa, late onset [ICD-11 More detail]
- Severe generalized junctional epidermolysis bullosa [ORDO Disease]
- junctional epidermolysis bullosa Herlitz type [DO Concept]
- junctional epidermolysis bullosa non-Herlitz type [DO Concept]
Currated CISMeF NLP mapping
- Congenital junctional epidermolysis bullosa (disorder) [SNOMED CT concept]
- Epidermolysis bullosa, junctional [OMIM phenotypic series]
- Junctional Epidermolysis Bullosa [NCIt concept]
- Junctional epidermolysis bullosa [PASCAL descriptor]
- Junctional epidermolysis bullosa [ICD-11 Category]
- Junctional epidermolysis bullosa [MedDRA LLT]
- Junctional epidermolysis bullosa [ORDO Disease]
- Junctional epidermolysis bullosa (disorder) [SNOMED CT concept]
- Junctional epidermolysis bullosa inversa [ICD-11 More detail]
- congenital junctional epidermolysis bullosa [SNOMED Notion]
- junctional epidermolysis bullosa [Disease (Nov.)]
- junctional epidermolysis bullosa [DO Concept]
- junctional epidermolysis bullosa, nos [SNOMED Notion]
DO Cross reference
- junctional epidermolysis bullosa [DO Concept]
Indexing information
- 19-DEJ-1 antigen [MeSH Supplementary Concept]
Manual BTNT mappings - CISMeF
- Junctional epidermolysis bullosa inversa [ORDO Disease]
- Junctional epidermolysis bullosa, non-Herlitz type [ORDO Disease]
- Late-onset junctional epidermolysis bullosa [ORDO Disease]
- Severe generalized junctional epidermolysis bullosa [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Rare developmental defect with skin/mucosae involvement [ORDO Disease]
ORDO relation(s)
- Junctional epidermolysis bullosa [ORDO Disease]
Record concept(s)
- epidermolysis bullosa letalis [MeSH concept]
- epidermolysis bullosa progressiva [MeSH concept]
- epidermolysis bullosa, junctional [MeSH concept]
Related MeSH Supplementary Concept(s)
- epidermolysis bullosa inversa dystrophica [MeSH Supplementary Concept]
- epidermolysis bullosa, junctional, Non-Herlitz type [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital junctional epidermolysis bullosa (disorder) [SNOMED CT concept]
- Junctional Epidermolysis Bullosa [NCIt concept]
- Junctional epidermolysis bullosa [ORDO Disease]
- Junctional epidermolysis bullosa [PASCAL descriptor]
- Junctional epidermolysis bullosa [MedDRA LLT]
- Junctional epidermolysis bullosa (disorder) [SNOMED CT concept]
- congenital junctional epidermolysis bullosa [SNOMED Notion]
- junctional epidermolysis bullosa [DO Concept]
- junctional epidermolysis bullosa [Disease (Nov.)]
- junctional epidermolysis bullosa, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Epidermolysis bullosa, junctional 1b, severe [OMIM Phenotype]
- Intermediate generalized junctional epidermolysis bullosa [ORDO Disease]
- Progressive junctional epidermolysis bullosa (neurotrophic) (disorder) [SNOMED CT concept]

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