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syndroom van macrostomie, pre-auriculair aanhangsel en externe oftalmoplegie (aandoening)
syndroom van macrostomie, pre-auriculair aanhangsel en externe oftalmoplegie
Macrostomia, preauricular tag, external ophthalmoplegia syndrome
Syndrome that combines the features of macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It is described in nine members of a Brazilian family. It is a phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant.
Id723366001
StatusPrimitive
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified