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syndroom van auriculaire afwijking, cheiloschisis en oculaire afwijking (aandoening)
syndroom van auriculaire afwijking, cheiloschisis en oculaire afwijking
syndroom van oorafwijking, hazenlip en oogafwijking
Auricular abnormality, cleft lip, ocular abnormality syndrome
The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities.
Id725149008
StatusPrimitive
Associated morphologyfusiedefect
Finding sitestructuur van labium oris
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.0
TermCongenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan
SNOMED CT to Orphanet simple map77300
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