|||||
orofaciodigitaal syndroom type 1 (aandoening)
orofaciodigitaal syndroom type 1
syndroom van Papillon-Léage-Psaume
OFD-syndroom type 1
oraal-faciaal-digitaal syndroom type 1
OFD1
Oro-facial digital syndrome type 1
Papillon Léage Psaume syndrome
Orofaciodigital syndrome type 1
A rare neurodevelopmental disorder that is lethal in males and with characteristics of variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system and of viscera (kidneys, pancreas and ovaries) in females. The disease is caused by mutations in the OFD1 gene (Xp22). A fraction of cases display genomic deletions. High penetrance has been reported but expression is highly variable. Follows an X-linked dominant pattern of inheritance. The gene mutations commonly occur de novo.
Id763833006
StatusPrimitive
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
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