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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.
Id770901001
StatusPrimitive
Clinical courseprogressief
Associated morphologycontractuur
Finding sitestructuur van gewrichtsregio
Pathological processproces van pathologische ontwikkeling
Has interpretationverlaagd
Interprets'range of motion' van gewricht
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.5
TermOverige congenitale gestoorde-ontwikkelingssyndromen met overige skeletveranderingen
SNOMED CT to Orphanet simple map280384
SNOMED CT to ICD-10 extended map
TargetQ87.5
RuleTRUE
AdviceALWAYS Q87.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified