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orofaciodigitaal syndroom type 6 (aandoening)
orofaciodigitaal syndroom type 6
OFD6
syndroom van Váradi-Papp
syndroom van Joubert met orofaciodigitaal defect
syndroom van Váradi
Joubert syndrome with orofaciodigital defect
Varadi Papp syndrome
Orofaciodigital syndrome type 6
Varadi syndrome
Joubert syndrome with oro-facial-digital syndrome
A very rare subtype of Joubert syndrome and related disorders with characteristics of neurological features of Joubert syndrome associated with orofacial anomalies and often polydactyly. Prevalence is unknown. Typical oral findings include bifid or lobulated tongue, lingual hamartomas and multiple oral frenula, but cleft lip and/or palate can also be present. Two OFD6 patients, including one fetus, were found to carry a homozygous mutation in the TMEM216 gene (11q13.1), but mutations in this gene were excluded in several other patients and the genetic basis of this condition still remains elusive.
Id721873007
StatusPrimitive
Associated morphologyaplasia
Finding sitestructuur van vermis cerebelli
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van ectoderm
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified