Alacrima
Intellectual disability
X-linked recessive hereditary disease
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Intellectual disability, alacrima, achalasia syndrome (disorder)
Intellectual disability, alacrima, achalasia syndrome
A rare genetic intellectual disability syndrome with characteristics of delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals.
syndroom van verstandelijke beperking, alacrimie en achalasie
syndroom van verstandelijke handicap, alacrimie en achalasie
syndroom van mentale retardatie, alacrimie en achalasie
Id763741001
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteLacrimal gland structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationDecreased
InterpretsTear production
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified