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otopalatodigitaal syndroom type I (aandoening)
otopalatodigitaal syndroom type I
Oto-palato-digital syndrome, type I
Taybi syndrome
A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.
Id54036001
StatusPrimitive
Finding sitestructuur van oor
Occurrencecongenitaal
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretsgehoorfunctie
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map90650
SNOMED CT to ICD-10 extended map
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