Autosomal recessive hereditary disorder	Congenital achalasia of esophagus	Congenital microcephaly	Developmental hereditary disorder	Digestive system hereditary disorder	Intellectual disability
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Achalasia microcephaly syndrome (disorder)
	Achalasia microcephaly syndrome
	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.
	syndroom van achalasie en microcefalie

Id	718573009
Status	Primitive

Associated morphology	Congenital smallness
Finding site	Head structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Finding site	Cardioesophageal junction structure
Occurrence	Congenital

Has interpretation	Abnormal
Interprets	Motility

Has interpretation	Below reference range
Interprets	Birth head circumference

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q39.5
Rule	TRUE
Advice	ALWAYS Q39.5 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q02
Rule	TRUE
Advice	ALWAYS Q02
Correlation	SNOMED CT source code to target map code correlation not specified