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orofaciodigitaal syndroom type 11 (aandoening)
orofaciodigitaal syndroom type 11
oraal-faciaal-digitaal syndroom XI
OFD-syndroom 11
syndroom van Gabrielli
Gabrielli-syndroom
OFD11
orofaciodigitaal syndroom type Gabrielli
Oro-facial digital syndrome type 11
Orofaciodigital syndrome Gabrielli type
Orofaciodigital syndrome type 11
Oral-facial-digital syndrome Gabrielli type
Oral-facial-digital syndrome type 11
An extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases and characteristics of facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.
Id718681002
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van hart
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
Interpretsgehoorfunctie
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