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orofaciodigitaal syndroom type 8 (aandoening)
orofaciodigitaal syndroom type 8
OFD8
orofaciodigitaal syndroom Edwards-type
Oro-facial digital syndrome type 8
Oral-facial-digital syndrome Edwards type
Orofaciodigital syndrome Edwards type
Orofaciodigital syndrome type 8
Syndrome with characteristics of tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibia and/or radius, duplication of the halluces, short stature and mild intellectual deficit. The syndrome has been described in one family with four affected males in three generations. Increased susceptibility to respiratory infections has been noted. X-linked recessive transmission has been suggested, but the causative gene has not yet been identified.
Id722106001
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