| syndroom van ernstige verstandelijke beperking, epilepsie, malformatie van anus, hypoplasie van distale falanx (aandoening) | | syndroom van ernstige verstandelijke beperking, epilepsie, malformatie van anus, hypoplasie van distale falanx | | syndroom van ernstige mentale retardatie, epilepsie, malformatie van anus, hypoplasie van distale falanx
syndroom van ernstige verstandelijke handicap, epilepsie, malformatie van anus, hypoplasie van distale falanx
| | Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome | | Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterized by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in two chromosome regions, one localized to chromosome 1 and the other to chromosome 14. |
| | Id | 723676007 | | 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 | 94066 |
| 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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