Achalasia, familial esophageal

Preferred Label : Achalasia, familial esophageal;

Type : Phenotype or locus, molecular basis unknown;

Description : Achalasia is a primary motor disorder of the esophagus. It is characterized by aperistalsis and a failure of the lower esophageal sphincter to relax due to a loss of inhibitory nitrinergic neurons in the esophageal myenteric plexus. Patients typically present with dysphagia, regurgitation, retrosternal pain, and substantial weight loss (Farrokhi and Vaezi, 2007; summary by Gockel et al., 2010).;

Inheritance : Autosomal recessive;

Prefixed ID : %200400;

Details

Origin ID

200400;

UMLS CUI

C1860213;

Automatic exact mappings (from CISMeF team)
- Primary achalasia [ICD-11 More detail]
Currated CISMeF NLP mapping
- Achalasia, familial esophageal [MeSH concept]
- Familial esophageal achalasia [ORDO Disease]
- Idiopathic achalasia [ORDO Disease]
- Idiopathic achalasia of esophagus (disorder) [SNOMED CT concept]
- achalasia, familial esophageal [MeSH Supplementary Concept]
DO Cross reference
- achalasia [DO Concept]
HPO term(s)
- Achalasia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Keratoconjunctivitis sicca [HPO term]
- Rheumatoid arthritis [HPO term]
- Xerostomia [HPO term]
ORDO concept(s)
- Familial esophageal achalasia [ORDO Disease]
- Idiopathic achalasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Achalasia, familial esophageal [MeSH concept]
- Familial esophageal achalasia [ORDO Disease]
- achalasia, familial esophageal [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients