| syndroom van autosomaal recessieve verstandelijke beperking, motorische disfunctie en contractuur van meerdere gewrichten (aandoening) | | syndroom van autosomaal recessieve verstandelijke beperking, motorische disfunctie en contractuur van meerdere gewrichten | | syndroom van autosomaal recessieve mentale retardatie, motorische disfunctie en contractuur van meerdere gewrichten
syndroom van autosomaal recessieve verstandelijke handicap, motorische disfunctie en contractuur van meerdere gewrichten
| | Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome | | Recessive intellectual disability, motor dysfunction, multiple joint contractures syndrome
| | A rare genetic syndromic intellectual disability disorder with characteristics of severe intellectual disability, progressive postnatal multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures, which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position. |
| | Id | 770901001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.5 | | Term | Overige congenitale gestoorde-ontwikkelingssyndromen met overige skeletveranderingen |
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| SNOMED CT to Orphanet simple map | 280384 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.5 | | Rule | TRUE | | Advice | ALWAYS Q87.5 | 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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