Autosomal recessive hereditary disorder	Congenital neurological disorder	Developmental hereditary disorder	Hereditary disorder of nervous system	Intellectual disability	Multiple malformation syndrome with facial defects as major feature	Refractory epilepsy
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Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder)
	Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome
	PMSE (polyhydramnios, megalencephaly, symptomatic epilepsy) syndrome
	A rare genetic neurological disorder with characteristics of pregnancy complicated by polyhydramnios, severe intractable epilepsy presenting in infancy, severe hypotonia, decreased muscle mass, global developmental delay, craniofacial dysmorphism (long face, large forehead, peaked eyebrows, broad nasal bridge, hypertelorism, large mouth with thick lips), and macrocephaly due to megalencephaly and hydrocephalus in most patients. Additional features that have been reported include cardiac anomalies like atrial septal defects, diabetes insipidus and nephrocalcinosis among others.
	syndroom van polyhydramnion, megalencefalie en symptomatische epilepsie
	PMSE-syndroom syndroom van polyhydramnion, macrencefalie en symptomatische epilepsie

Id	1167371007
Status	Primitive

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

Finding site	Cerebrum
Occurrence	Infancy

ICD-10 complex map reference set

Target	G40.4
Rule	TRUE
Advice	ALWAYS G40.4 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified