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Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)
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.
syndroom van autosomaal recessieve verstandelijke beperking, motorische disfunctie en contractuur van meerdere gewrichten
syndroom van autosomaal recessieve verstandelijke handicap, motorische disfunctie en contractuur van meerdere gewrichten
syndroom van autosomaal recessieve mentale retardatie, motorische disfunctie en contractuur van meerdere gewrichten
Id770901001
StatusPrimitive
Clinical courseProgressive
Associated morphologyContracture
Finding siteStructure of joint region
Pathological processPathological developmental process
Has interpretationDecreased
InterpretsRange of joint movement
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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