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syndroom van hemifaciale hyperplasie en strabismus (aandoening)
syndroom van hemifaciale hyperplasie en strabismus
syndroom van Bencze
syndroom van hemifaciale hyperplasie en strabisme
syndroom van hemifaciale hyperplasie en scheelzien
Hemifacial hyperplasia strabismus syndrome
Bencze syndrome
A malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs. The syndrome has characteristics of mild facial asymmetry with unaffected neurocranium and eyeballs, along with esotropia, amblyopia and/or convergent strabismus and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.
Id733046006
StatusPrimitive
Associated morphologyhyperplasie
Finding sitestructuur van aangezicht
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ67.4
TermOverige congenitale misvormingen van schedel, aangezicht en kaak
SNOMED CT to Orphanet simple map1241
SNOMED CT to ICD-10 extended map
TargetQ67.4
RuleTRUE
AdviceALWAYS Q67.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified