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syndroom met doofheid en oligodontie (aandoening)
syndroom met doofheid en oligodontie
Deafness and oligodontia syndrome
Rare syndrome with manifestation of sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Transmission appears to be autosomal recessive.
Id715527006
StatusPrimitive
Associated morphologyafwijkend aantal
Finding sitestructuur van gebitselement
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyafwezigheid
Finding sitestructuur van gebitselementen
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Interpretsgehoorfunctie
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetK00.0
TermAnodontie
TargetH90.5
TermGehoorverlies door perceptiestoornis, niet gespecificeerd
SNOMED CT to Orphanet simple map3230
SNOMED CT to ICD-10 extended map
TargetK00.0
RuleTRUE
AdviceALWAYS K00.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH90.5
RuleTRUE
AdviceALWAYS H90.5
CorrelationSNOMED CT source code to target map code correlation not specified