| X-gebonden syndroom van verstandelijke beperking, hypotonie, faciale dysmorfie en agressief gedrag (aandoening) | | X-gebonden syndroom van verstandelijke beperking, hypotonie, faciale dysmorfie en agressief gedrag | | X-gebonden syndroom van verstandelijke handicap, hypotonie, faciale dysmorfie en agressief gedrag
X-gebonden syndroom van mentale retardatie, hypotonie, faciale dysmorfie en agressief gedrag
| | X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome | | This syndrome is characterized by severe intellectual deficit, hypotonia, mild facial dysmorphism and aggressive behavior. It has been described in 10 male members spanning four generations of one family. The facial dysmorphism includes a high forehead, prominent ears, and a small pointed chin. Height and head circumference are reduced. This disorder is transmitted as an X-linked recessive trait and the causative gene maps to Xp22. |
| | Id | 719157002 | | 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 | 85329 |
| 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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