718573009: Achalasia microcephaly syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Viscus structure finding (finding)\Finding of esophagus\Disorder of oesophagus\dysmotilité œsophagienne\Achalasia of oesophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome (disorder)
• \Viscus structure finding (finding)\constatation à propos d'un organe abdominal\Stomach finding\Disorder of stomach\Achalasia of oesophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome (disorder)
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Finding of esophagus\Disorder of oesophagus\dysmotilité œsophagienne\Achalasia of oesophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome (disorder)
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\affection du tractus gastro-intestinal supérieur (trouble)\Disorder of oesophagus\dysmotilité œsophagienne\Achalasia of oesophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome (disorder)
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\affection du tractus gastro-intestinal supérieur (trouble)\Disorder of stomach\Achalasia of oesophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome (disorder)
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Stomach finding\Disorder of stomach\Achalasia of oesophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\Achalasia microcephaly syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\affection du tractus gastro-intestinal supérieur (trouble)\Disorder of oesophagus\dysmotilité œsophagienne\Achalasia of oesophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\affection du tractus gastro-intestinal supérieur (trouble)\Disorder of stomach\Achalasia of oesophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\affection du tractus gastro-intestinal supérieur (trouble)\Disorder of oesophagus\dysmotilité œsophagienne\Achalasia of oesophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\affection du tractus gastro-intestinal supérieur (trouble)\Disorder of stomach\Achalasia of oesophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Disorder of oesophagus\dysmotilité œsophagienne\Achalasia of oesophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Disorder of stomach\Achalasia of oesophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of stomach\Achalasia of oesophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Stomach finding\Disorder of stomach\Achalasia of oesophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of stomach\Achalasia of oesophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of stomach\Achalasia of oesophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Achalasia microcephaly syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Achalasia microcephaly syndrome (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Achalasia microcephaly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\Achalasia microcephaly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Achalasia microcephaly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Achalasia microcephaly syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\Achalasia microcephaly syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\Achalasia microcephaly syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\affection du tractus gastro-intestinal supérieur (trouble)\Disorder of oesophagus\dysmotilité œsophagienne\Achalasia of oesophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\affection du tractus gastro-intestinal supérieur (trouble)\Disorder of stomach\Achalasia of oesophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\affection du tractus gastro-intestinal supérieur (trouble)\Disorder of oesophagus\dysmotilité œsophagienne\Achalasia of oesophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\affection du tractus gastro-intestinal supérieur (trouble)\Disorder of stomach\Achalasia of oesophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Disorder of oesophagus\dysmotilité œsophagienne\Achalasia of oesophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Disorder of stomach\Achalasia of oesophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of stomach\Achalasia of oesophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Achalasia microcephaly syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Achalasia microcephaly syndrome (disorder)
• \Disease\Congenital disease\Congenital achalasia of esophagus\Achalasia microcephaly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Achalasia microcephaly syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Achalasia microcephaly syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Achalasia microcephaly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Achalasia microcephaly syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3312806017	Achalasia microcephaly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3312807014	Achalasia microcephaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3312808016	An extremely rare genetic syndrome, reported in a few families to date with characteristics of the association of microcephaly, intellectual deficit and achalasia. Symptoms of achalasia include coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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