Autosomal recessive hereditary disorder	Congenital neurological disorder	Developmental hereditary disorder	Epilepsy	Global developmental delay	Hereditary disorder of nervous system	Intellectual disability	Multiple malformation syndrome with facial defects as major feature
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Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome (disorder)
	Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of variable developmental delay, intellectual disability, early-onset seizures and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, large ears, thin upper lip and high arched palate). Other reported features are microcephaly, hypotonia, growth retardation, congenital heart defects and malformations of the fingers and toes, as well as additional neurologic manifestations (such as ataxia or spastic quadriplegia). Brain imaging may show hypoplastic corpus callosum, white matter abnormalities or cortical atrophy.
	syndroom van vroeg optredende epileptische aanvallen, afwijkingen van distale extremiteit, faciale dysmorfie en algehele ontwikkelingsachterstand
	syndroom van vroeg optredende convulsies, distale extremiteitafwijkingen, faciale dysmorfie en algemene ontwikkelingsachterstand syndroom van vroeg optredende insulten, distale extremiteitafwijkingen, faciale dysmorfie en algehele ontwikkelingsachterstand

Id	1187042007
Status	Primitive

Finding site

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

ICD-10 complex map reference set

Target	Q87.0
Rule	TRUE
Advice	ALWAYS Q87.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified