Esophageal atresia

Symptom Information:

Symptom ID: HPO:0002032
Synonyms:
Esophageal stenosis [Orphanet:26140]
Stricture of esophagus (disorder) [Orphanet:26140]
Imperforate esophagus (disorder) [Orphanet:26140]
Congenital atresia of esophagus (disorder) [Orphanet:26140]
Esophageal Stenosis [Orphanet:26140]
Esophageal Atresia [Orphanet:26140]
Esophageal atresia [OMIM:Esophageal atresia]
Tracheo-esophageal fistula/esophageal atresia/stenosis [Orphanet:26140]
Oesophageal stenosis [Orphanet:26140]
Oesophageal atresia [Orphanet:26140]
Imperforate oesophagus [Orphanet:26140]
Oesophageal stenosis [MedDRA:10030194]
Esophageal stenosis [MedDRA:10030194]
Esophageal stricture [MedDRA:10030194]
Oesophageal stenosis acquired [MedDRA:10030194]
Oesophageal stricture [MedDRA:10030194]
Stenosis esophageal [MedDRA:10030194]
Stricture and stenosis of esophagus [MedDRA:10030194]
Stricture and stenosis of oesophagus [MedDRA:10030194]
Stricture esophagus [MedDRA:10030194]
Stricture of esophagus [MedDRA:10030194]
Esophageal stenosis acquired [MedDRA:10030194]
Stenosis oesophageal [MedDRA:10030194]
Stricture oesophagus [MedDRA:10030194]
Stricture of oesophagus [MedDRA:10030194]
Oesophageal scarring [MedDRA:10030194]
Esophageal scarring [MedDRA:10030194]
Oesophageal atresia [MedDRA:10030146]
Atresia esophagus [MedDRA:10030146]
Atresia of esophagus [MedDRA:10030146]
Eosophageal atresia [MedDRA:10030146]
Esophageal atresia [MedDRA:10030146]
Atresia of oesophagus [MedDRA:10030146]
Atresia oesophagus [MedDRA:10030146]
Imperforate oesophagus [MedDRA:10021530]
Esophagus imperforate [MedDRA:10021530]
Imperforate esophagus [MedDRA:10021530]
Oesophagus imperforate [MedDRA:10021530]
Esophageal atresia (in some patients) [OMIM:Esophageal atresia (in some patients)]
Esophageal atresia (rare) [OMIM:Esophageal atresia (rare)]
Esophageal stricture (classic feature) [OMIM:Esophageal stricture (classic feature)]
Esophageal stricture (seen in recessive form) [OMIM:Esophageal stricture (seen in recessive form)]
Esophageal strictures [OMIM:Esophageal strictures]
Quality:
Cross references:
HPO:0010450 "Esophageal stenosis" [Orphanet:26140]
HPO:0002043 "Esophageal stricture" [Orphanet:26140]
Orphanet:26140 "Tracheo-esophageal fistula/esophageal atresia/stenosis" [Orphanet:26140]
OMIM: "Esophageal atresia" [OMIM:Esophageal atresia]
OMIM: "Esophageal atresia (in some patients)" [OMIM:Esophageal atresia (in some patients)]
OMIM: "Esophageal atresia (rare)" [OMIM:Esophageal atresia (rare)]
OMIM: "Esophageal stricture (classic feature)" [OMIM:Esophageal stricture (classic feature)]
OMIM: "Esophageal stricture (seen in recessive form)" [OMIM:Esophageal stricture (seen in recessive form)]
OMIM: "Esophageal strictures" [OMIM:Esophageal strictures]
UMLS:C0014866 "Esophageal Stenosis" [Orphanet:26140]
UMLS:C0014850 "Esophageal Atresia" [Orphanet:26140]
Is a (Direct Parents):
HPO         Abnormality of the esophagus
HPO         Gastrointestinal atresia
MedDRA Oesophageal stenosis and obstruction
Orphanet Esophageal anomaly
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the abdomen(HPO:0001438)
          Abnormality of the abdominal organs(HPO:0002012)
             Abnormality of the gastrointestinal tract(HPO:0011024)
                Abnormality of the esophagus(HPO:0002031)
                   Esophageal atresia(HPO:0002032)
                Gastrointestinal atresia(HPO:0002589)
                   Esophageal atresia(HPO:0002032)
MedDRA:
Gastrointestinal disorders(MedDRA:10017947)
    Gastrointestinal stenosis and obstruction(MedDRA:10018008)
       Oesophageal stenosis and obstruction(MedDRA:10030196)
          Esophageal atresia(HPO:0002032)
Database Frequency: 19 / 7739
Resource:

All diseases associated with this symptom:

17q12 microduplication syndrome (Orphanet:261272)
Anophthalmia/microphthalmia - esophageal atresia (Orphanet:77298)
Apert syndrome (Orphanet:87)
CHARGE syndrome (Orphanet:138)
Cartilage-hair hypoplasia (Orphanet:175)
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2 (OMIM:613989)
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 1 (OMIM:224230)
Diabetic embryopathy (Orphanet:1926)
Esophageal atresia (Orphanet:1199)
FANCONI ANEMIA, COMPLEMENTATION GROUP L (OMIM:614083)
FANCONI ANEMIA, COMPLEMENTATION GROUP Q (OMIM:615272)
FEINGOLD SYNDROME 1 (OMIM:164280)
Feingold syndrome (Orphanet:1305)
Fryns syndrome (Orphanet:2059)
Junctional epidermolysis bullosa - pyloric atresia (Orphanet:79403)
Mandibulofacial dysostosis-microcephaly syndrome (Orphanet:79113)
Recessive dystrophic epidermolysis bullosa inversa (Orphanet:79409)
Severe generalized recessive dystrophic epidermolysis bullosa (Orphanet:79408)
VACTERL/VATER association (Orphanet:887)