| syndroom van verstandelijke beperking, epilepsie en knolvormige neus (aandoening) | | syndroom van verstandelijke beperking, epilepsie en knolvormige neus | | syndroom van Hernández-Aguirre-Negrete
syndroom van verstandelijke handicap, epilepsie en knolvormige neus
syndroom van mentale retardatie, epilepsie en knolvormige neus
| | Intellectual disability, epilepsy, bulbous nose syndrome | | Hernandez Aguirre Negrete syndrome
| | A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, mild intellectual disability, seizures, obesity, and dysmorphic facial features (including large, bulbous nose, prominent philtrum, wide mouth). Additional reported features are bilateral pes planus, scoliosis, and spina bifida occulta. Brain MRI may show mild ventricular dilatation. |
| | Id | 721146009 | | 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 | 2139 |
| 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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