| 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 | | A rare X-linked syndromic intellectual disability characterized by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioral abnormalities including aggressiveness, agitation, and self-injurious behavior, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. |
| | 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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