epidermolysis bullosa with pyloric atresia

Preferred Label : epidermolysis bullosa with pyloric atresia;

MeSH synonym : aplasia cutis congenita with gastrointestinal atresia; carmi syndrome; junctional epidermolysis bullosa with pyloric atresia; epidermolysis bullosa, junctional, with pyloric atresia; epidermylosis bullosa, junctional, with pyloric atresia and aplasia cutis congenita; epidermolysis bullosa junctionalis with pyloric atresia; Pa-Jeb; Eb-Pa;

Details

Origin ID

C535377;

UMLS CUI

C1856934;

CISMeF manual mappings
- Epidermolysis bullosa simplex with pyloric atresia [ORDO Disease]
- Junctional epidermolysis bullosa with pyloric atresia [ORDO Disease]
- congenital junctional epidermolysis bullosa-pyloric atresia syndrome [SNOMED Notion]
Currated CISMeF NLP mapping
- Epidermolysis Bullosa, Junctional, with Pyloric Atresia [NCIt concept]
- 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 [ICD-11 More detail]
- Epidermolysis bullosa, junctional 5b, with pyloric atresia [OMIM Phenotype]
- Junctional epidermolysis bullosa with pyloric atresia [ICD-11 More detail]
- junctional epidermolysis bullosa with pyloric atresia [DO Concept]
MeSH term(s) associated for indexing
- ectodermal dysplasia [MeSH Descriptor]
Record concept(s)
- Epidermolysis bullosa with pyloric atresia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epidermolysis Bullosa, Junctional, with Pyloric Atresia [NCIt concept]
- Epidermolysis bullosa, junctional 5b, with pyloric atresia [OMIM Phenotype]
- Junctional epidermolysis bullosa with pyloric atresia [ORDO Disease]
- junctional epidermolysis bullosa with pyloric atresia [DO Concept]

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