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Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder)
Hydrocephalus with endocardial fibroelastosis and cataract syndrome
HEC (hydrocephalus, endocardial fibroelastosis, cataract) syndrome
HEC syndrome
Syndrome that is characterized by communicating hydrocephalus, endocardial fibroelastosis and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The etiology of the syndrome is unknown but a viral or genetic origin has been proposed.
syndroom van hydrocefalie met endocardiale fibro-elastose en cataract
syndroom van hydrocephalus met endocardiale fibro-elastose en staar
Id721015008
StatusPrimitive
Associated morphologyOpacity
Finding siteLens clear
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyFibroelastosis
Finding siteEndocardium structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDilatation
Finding siteBrain cerebrospinal fluid pathway
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified