Autosomal dominant hereditary disorder	Developmental hereditary disorder	Intellectual disability	Multiple malformation syndrome with facial defects as major feature
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Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder)
	Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome
	A rare genetic syndromic intellectual disability disorder with characteristics of global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia) and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth. Caused by heterozygous mutation in the GATAD2B gene on chromosome 1q21.
	syndroom van ernstige verstandelijke beperking, taalachterstand, strabismus, grimasseren en lange vingers
	syndroom van ernstige mentale retardatie, taalachterstand, strabisme, grimasseren en lange vingers syndroom van ernstige verstandelijke beperking, taalachterstand, strabisme, grimasseren en lange vingers syndroom van ernstige verstandelijke handicap, taalachterstand, scheelzien, grimasseren en lange vingers

Id	773551001
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Face structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified