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syndroom van hydrocefalie, costovertebrale dysplasie en anomalie van Sprengel (aandoening)
syndroom van hydrocefalie, costovertebrale dysplasie en anomalie van Sprengel
syndroom van Ferlini-Ragno-Calzolari
syndroom van Waaler-Aarskog
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome
Waaler Aarskog syndrome
Ferlini Ragno Calzolari syndrome
This syndrome has principal characteristics of by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly and costovertebral dysplasia may also be present. The syndrome has been described in eight female patients. The mode of transmission has not been firmly established but appears to be either autosomal or X-linked dominant.
Id721229003
StatusPrimitive
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