Autosomal dominant hereditary disorder
Developmental hereditary disorder
Expressive dysphasia
Intellectual disability
Multiple malformation syndrome with facial defects as major feature
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Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder)
Intellectual disability, expressive aphasia, facial dysmorphism syndrome
Intellectual disability, loss of expressive language, facial dysmorphism syndrome
A rare genetic syndromic intellectual disability with characteristics of moderate to severe intellectual deficiency, language deficit (completely absent or significantly impaired speech) and distinctive facial dysmorphism (long face, straight eyebrows, and, less frequently, low-set ears and cafe-au-lait spots). Additional, variably observed features include motor delays, behavioral difficulties and seizures.
Id1197593006
StatusPrimitive
InterpretsSpeech observable
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
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