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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
Ferlini Ragno Calzolari syndrome
Waaler Aarskog syndrome
A rare multiple congenital anomalies syndrome characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present.
Id721229003
StatusPrimitive
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.8
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map2180
SNOMED CT to ICD-10 extended map
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