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Macrocephaly, intellectual disability, autism syndrome (disorder)
Macrocephaly, intellectual disability, autism syndrome
A rare genetic neurological disease with the association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose and long philtrum.
syndroom van macrocefalie, verstandelijke beperking en autisme
syndroom van macrocefalie, verstandelijke handicap en autisme
syndroom van macrocefalie, mentale retardatie en autisme
Id783089006
StatusPrimitive
Associated morphologyEnlargement
Finding siteHead structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationAbove reference range
InterpretsHead circumference
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified