| acro-oto-oculair syndroom (aandoening) | | acro-oto-oculair syndroom | | syndroom van pseudopapiloedeem, blefarofimose en handanomalieën
| | Acro-oto-ocular syndrome | | Pseudopapilledema, blepharophimosis and hand anomaly syndrome
Pseudopapilloedema, blepharophimosis and hand anomaly syndrome
Acrootoocular syndrome
| | A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure) mixed hearing loss, facial dysmorphism and limb extremity anomalies. Only 4 cases have been reported in the literature from 3 inbred sibships. The affected patients have no intellectual deficit. Transmitted as an autosomal recessive trait. |
| | Id | 720410001 | | 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 | 2980 |
| 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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