| syndroom van corneale anesthesie, doofheid en verstandelijke beperking (aandoening) | | syndroom van corneale anesthesie, doofheid en verstandelijke beperking | | syndroom van corneale anesthesie, doofheid en verstandelijke handicap
syndroom van Ramos Arroyo
syndroom van corneale anesthesie, doofheid en mentale retardatie
| | Ramos Arroyo syndrome | | Corneal anesthesia, deafness, intellectual disability syndrome
| | Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability. |
| | Id | 723504000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 1051 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | 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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