| syndroom van agenesie van corpus callosum, verstandelijke beperking, coloboom en micrognathie (aandoening) | | syndroom van agenesie van corpus callosum, verstandelijke beperking, coloboom en micrognathie | | syndroom van agenesie van corpus callosum, verstandelijke handicap, coloboom en micrognathie
syndroom van Graham-Cox
syndroom van agenesie van corpus callosum, mentale retardatie, coloboom en micrognathie
| | Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome | | Graham Cox syndrome
| | A developmental anomaly syndrome with characteristics of coloboma of the iris and optic nerve, facial dysmorphism (high forehead, micro retrognathia, low-set ears) intellectual deficit, agenesis of the corpus callosum, sensorineural hearing loss, skeletal anomalies and short stature. Caused by mutation in the IGBP1 gene. |
| | Id | 722282008 | | 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 | 52055 |
| 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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