| syndroom van microcefalie, epileptische aanval, verstandelijke beperking en hartziekte (aandoening) | | syndroom van microcefalie, epileptische aanval, verstandelijke beperking en hartziekte | | syndroom van microcefalie, insult, mentale retardatie en cardiopathie
syndroom van microcefalie, convulsie, mentale retardatie en cardiopathie
| | Microcephaly, seizure, intellectual disability, heart disease syndrome | | This syndrome has characteristics of intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures and skeletal anomalies. It has been described in two males. |
| | Id | 723304001 | | 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 |
|
| SNOMED CT to Orphanet simple map | 2519 |
| 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 |
|
|
