| X-gebonden syndroom van verstandelijke beperking, cardiomegalie en congestief hartfalen (aandoening) | | X-gebonden syndroom van verstandelijke beperking, cardiomegalie en congestief hartfalen | | X-gebonden syndroom van mentale retardatie, cardiomegalie en congestief hartfalen
X-gebonden syndroom van verstandelijke handicap, cardiomegalie en congestief hartfalen
| | X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome | | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes. |
| | Id | 773587008 | | 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 | 324410 |
| 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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