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Richieri Costa-da Silva-syndroom (aandoening)
Richieri Costa-da Silva-syndroom
syndroom van myotonie, verstandelijke beperking en skeletafwijkingen
syndroom van myotonia, verstandelijke handicap en skeletafwijkingen
syndroom van myotonie, mentale retardatie en skeletafwijkingen
Richieri Costa-da Silva syndrome
Myotonia, intellectual disability, skeletal anomalies syndrome
A rare genetic myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertrophy and progressive impairment of gait) short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses) and mild to moderate intellectual deficiency. Facial dysmorphism and joint limitation are not associated. There have been no further descriptions in the literature since 1984.
Id782941005
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified