| syndroom van X-gebonden verstandelijke beperking, hypotonie en bewegingsstoornis (aandoening) | | syndroom van X-gebonden verstandelijke beperking, hypotonie en bewegingsstoornis | | syndroom van X-gebonden verstandelijke handicap, verminderde spiertonus en bewegingsstoornis
syndroom van X-gebonden mentale retardatie, verminderde spiertonus en bewegingsstoornis
| | X-linked intellectual disability, hypotonia, movement disorder syndrome | | A rare genetic syndromic intellectual disability characterized by mild to severe intellectual disability associated with variable features, including hypotonia, dyskinesia, spasticity, wide-based gait, microcephaly, epilepsy and behavioral problems. MRI imaging may show a corpus callosum hypoplasia or ventricular enlargement. Other variable features such as joint hyperlaxity, skin pigmentary abnormalities and visual impairment have also been reported. |
| | Id | 1254654006 | | 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 | 457260 |
| SNOMED CT to ICD-10 extended map | | Target | F78.8 | | Rule | TRUE | | Advice | ALWAYS F78.8 | 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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