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 | | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of auricular abnormalities (such as external ear abnormalities and postauricular pits) and cleft lip with or without cleft palate. Additional manifestations include myopia, nystagmus, and retinal pigment abnormalities. |
| Id | 725149008 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | Q87.0 | Term | Congenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan |
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SNOMED CT to Orphanet simple map | 77300 |
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 |
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