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syndroom van arthrogryposis multiplex congenita en fluitmond (aandoening)
syndroom van arthrogryposis multiplex congenita en fluitmond
syndroom van Illum
Illum syndrome
Arthrogryposis multiplex congenita and whistling face syndrome
An extremely rare type of arthrogryposis multiplex congenita with the combination of multiple joint contractures with movement limitation and microstomia with a whistling appearance of the mouth that may cause feeding, swallowing and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction, occasionally Pierre-Robin sequence and lethality generally occurring during the first months of life.
Id720514008
StatusPrimitive
Associated morphologycontractuur
Finding sitestructuur van gewrichtsregio
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationverlaagd
Interprets‘range of motion’ van gewricht
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ74.3
RuleTRUE
AdviceALWAYS Q74.3
CorrelationSNOMED CT source code to target map code correlation not specified