Esophagitis, eosinophilic, 1

Preferred Label : Esophagitis, eosinophilic, 1;

Symbol : EOE1;

CISMeF acronym : EE; EOE1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : EE; Esophagitis, eosinophilic;

Description : Eosinophilic esophagitis (EOE) has an incidence of approximately 1 per 10,000 people. Symptoms include difficulty feeding, failure to thrive, vomiting, epigastric or chest pain, dysphagia, and food impaction. Individuals with EOE are predominantly young males with a high rate of atopic disease, and the diagnosis is made by endoscopy and biopsy findings of isolated eosinophils in the esophagus (summary by Rothenberg et al., 2010). - Genetic Heterogeneity of Eosinophilic Esophagitis Eosinophilic esophagitis-1 (EOE1) is associated with variation at chromosome 7q11.2. Another locus (EOE2; 613412) has been been associated with variation in the TSLP gene (607003) on chromosome 5q22.;

Inheritance : Multifactorial;

Prefixed ID : %610247;

Details

Origin ID

610247;

UMLS CUI

C4551589;

Automatic exact mappings (from CISMeF team)
- Eosinophilic esophagitis [ICD-9 code]
- Eosinophilic infiltration of the esophagus [HPO term]
- encephalomyelitis, equine [MeSH concept]
- encephalomyelitis, equine [MeSH Descriptor]
- exercise test [MeSH Descriptor]
Currated CISMeF NLP mapping
- Eosinophilic Esophagitis [NCIt concept]
- Eosinophilic esophagitis [ORDO Disease]
- Eosinophilic esophagitis [MedDRA LLT]
- Eosinophilic esophagitis (disorder) [SNOMED CT concept]
- Eosinophilic oesophagitis [MedDRA Preferred Term]
- eosinophilic esophagitis [Disease (Nov.)]
- eosinophilic esophagitis [MedlinePlus Topic]
- eosinophilic esophagitis [DO Concept]
- eosinophilic esophagitis [MeSH Descriptor]
- eosinophilic esophagitis [MeSH concept]
- eosinophilic esophagitis [Radlex concept]
DO Cross reference
- eosinophilic esophagitis [DO Concept]
False automatic mappings
- Estonia [NCIt concept]
HPO term(s)
- Dysphagia [HPO term]
- Eosinophilia [HPO term]
- Epigastric pain [HPO term]
- Esophagitis [HPO term]
- Failure to thrive [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Eosinophilic esophagitis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Eosinophilic Esophagitis [NCIt concept]
- Eosinophilic esophagitis [ICD-9 code]
- Eosinophilic esophagitis [ORDO Disease]
- Eosinophilic esophagitis [MedDRA LLT]
- Eosinophilic esophagitis (disorder) [SNOMED CT concept]
- Eosinophilic oesophagitis [MedDRA Preferred Term]
- eosinophilic esophagitis [MeSH Descriptor]
- eosinophilic esophagitis [MeSH concept]
- eosinophilic esophagitis [Radlex concept]
- eosinophilic esophagitis [DO Concept]
- eosinophilic esophagitis [Disease (Nov.)]

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