|||||||
syndroom van achalasie en microcefalie (aandoening)
syndroom van achalasie en microcefalie
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.
Id718573009
StatusPrimitive
Associated morphologycongenitale kleinheid
Finding sitestructuur van encephalon
Finding sitestructuur van oesofagus
Has interpretationafwijkend
InterpretsMotility
referentieset met complexe 'mapping' naar ICD-10
TargetQ39.5
RuleTRUE
AdviceALWAYS Q39.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ02
RuleTRUE
AdviceALWAYS Q02
CorrelationSNOMED CT source code to target map code correlation not specified