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oculo-otodentaal syndroom (aandoening)
oculo-otodentaal syndroom
Oculootodental syndrome
A contiguous gene syndrome comprising otodental syndrome (globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities typically including iris and chorioretinal coloboma and sometimes microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.
Id770944002
StatusPrimitive
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 11
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Interpretsgehoorfunctie
Associated morphologyvergroting
Finding sitestructuur van gebitselement
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ93.5
TermOverige deleties van deel van chromosoom
SNOMED CT to Orphanet simple map99806
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified