Epidermolysis Bullosa, Junctional, with Pyloric Atresia

Preferred Label : Epidermolysis Bullosa, Junctional, with Pyloric Atresia;

NCIt synonyms : Carmi Syndrome; PA-JEB;

NCIt definition : An autosomal recessive condition caused by mutation(s), in the ITGA6 or ITGB4 genes, encoding integrin alpha-6 and integrin beta-4 respectively. It is characterized by junctional epidermolysis and pyloric stenosis/atresia.;

Details

Origin ID

C162474;

UMLS CUI

C1856934;

Automatic exact mappings (from CISMeF team)
- epidermolysis bullosa, junctional [MeSH Descriptor]
Currated CISMeF NLP mapping
- Epidermolysis bullosa with pyloric atresia [MeSH concept]
- Epidermolysis bullosa, junctional 5b, with pyloric atresia [OMIM Phenotype]
- Junctional epidermolysis bullosa with pyloric atresia [ORDO Disease]
- Junctional epidermolysis bullosa with pyloric atresia [ICD-11 More detail]
- epidermolysis bullosa with pyloric atresia [MeSH Supplementary Concept]
- junctional epidermolysis bullosa with pyloric atresia [DO Concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
See also inter- (CISMeF)
- Epidermolysis bullosa simplex 5c, with pyloric atresia [OMIM Phenotype]
- Epidermolysis bullosa simplex co-occurrent with pyloric atresia (disorder) [SNOMED CT concept]
- Epidermolysis bullosa simplex with pyloric atresia [ORDO Disease]
- Epidermolysis bullosa simplex with pyloric atresia [ICD-11 More detail]
- congenital junctional epidermolysis bullosa-pyloric atresia syndrome [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epidermolysis bullosa with pyloric atresia [MeSH concept]
- Epidermolysis bullosa, junctional 5b, with pyloric atresia [OMIM Phenotype]
- Junctional epidermolysis bullosa with pyloric atresia [ORDO Disease]
- epidermolysis bullosa with pyloric atresia [MeSH Supplementary Concept]
- junctional epidermolysis bullosa with pyloric atresia [DO Concept]
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
- ITGA6 Gene [NCIt concept]
- ITGB4 Gene [NCIt concept]

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