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700283004: Congenital achalasia of esophagus (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2990076011 Congenital achalasia of esophagus en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2990177017 Congenital achalasia of oesophagus en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2990215012 Congenital achalasia of esophagus (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5835071000241111 achalasie œsophagienne congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5835081000241113 achalasie congénitale de l'œsophage fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


4 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital achalasia of esophagus Is a Congenital disease true Inferred relationship Some
Congenital achalasia of esophagus Is a Achalasia of esophagus true Inferred relationship Some
Congenital achalasia of esophagus Occurrence Congenital true Inferred relationship Some 1
Congenital achalasia of esophagus Finding site Cardioesophageal junction structure true Inferred relationship Some 1
Congenital achalasia of esophagus Finding site Oesophageal structure false Inferred relationship Some 2
Congenital achalasia of esophagus Has interpretation Abnormal true Inferred relationship Some 2
Congenital achalasia of esophagus Interprets Motility (observable entity) true Inferred relationship Some 2
Congenital achalasia of esophagus Is a Disorder of digestive system specific to fetus OR newborn true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital cardiospasm Is a True Congenital achalasia of esophagus Inferred relationship Some
An extremely rare genetic syndrome characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. Is a True Congenital achalasia of esophagus Inferred relationship Some
Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. Is a True Congenital achalasia of esophagus Inferred relationship Some
Glucocorticoid deficiency with achalasia Is a True Congenital achalasia of esophagus Inferred relationship Some

This concept is not in any reference sets

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