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syndroom van polyhydramnion, megalencefalie en symptomatische epilepsie (aandoening)
syndroom van polyhydramnion, megalencefalie en symptomatische epilepsie
PMSE-syndroom
syndroom van polyhydramnion, macrencefalie en symptomatische epilepsie
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.
Id1167371007
StatusPrimitive
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
SNOMED CT to Orphanet simple map500533
SNOMED CT to ICD-10 extended map
TargetG40.4
RuleTRUE
AdviceALWAYS G40.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified