| 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
| | This syndrome has characteristics of major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. |
| | 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 | Q87.0 | | 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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