conductief gehoorverlies
congenitaal gehoorverlies
congenitale afwijking van aangezicht
congenitale afwijking van extremiteit
hereditaire aandoening van auditief systeem
otopalatodigitaal syndroom-spectrumstoornis
palatoschisis
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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.
Id
54036001
Status
Primitive
Associated morphology
fusiedefect door stoornis in ontwikkeling
Finding site
structuur van palatum
Occurrence
congenitaal
Pathological process
proces van pathologische ontwikkeling
Associated morphology
morfologische afwijking
Finding site
structuur van aangezicht
Occurrence
congenitaal
Pathological process
proces van pathologische ontwikkeling
Associated morphology
morfologische afwijking
Finding site
structuur van extremiteit
Occurrence
congenitaal
Pathological process
proces van pathologische ontwikkeling
Finding site
structuur van oor
Occurrence
congenitaal
Associated morphology
dysplasie
Finding site
botstructuur
Occurrence
congenitaal
Pathological process
proces van pathologische ontwikkeling
Has interpretation
gestoord
Interprets
gehoorfunctie
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map
90650
SNOMED CT to ICD-10 extended map
Target
Q87.0
Rule
TRUE
Advice
ALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation
SNOMED CT source code to target map code correlation not specified