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familiaire mediane schisis van boven- en onderlip (aandoening)
familiaire mediane schisis van boven- en onderlip
familiale mediane spleet van boven- en onderlip
Familial median cleft of upper and lower lip
A rare and isolated orofacial defect with manifestation of incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family.
Id718552009
StatusPrimitive
Associated morphologyfusiedefect
Finding sitestructuur van bovenlip
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyfusiedefect
Finding sitestructuur van onderlip
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ36.1
TermGespleten lip, mediaan
SNOMED CT to Orphanet simple map401942
SNOMED CT to ICD-10 extended map
TargetQ36.1
RuleTRUE
AdviceALWAYS Q36.1
CorrelationSNOMED CT source code to target map code correlation not specified