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autosomaal recessief syndroom van pterygium van ledemaat, hartafwijking, werveldefect, ooranomalie en radiaal defect (aandoening)
PHAVER-syndroom
syndroom van Powell-Chandra-Saal
autosomaal recessief syndroom van pterygium van ledemaat, hartafwijking, werveldefect, ooranomalie en radiaal defect
PHAVER syndrome
Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome
PHAVER (pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect) syndrome
Powell Chandra Saal syndrome
A rare multiple congenital anomalies syndrome characterized by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects.
Id723453002
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 map2876
SNOMED CT to ICD-10 extended map
TargetE79.8
RuleTRUE
AdviceALWAYS E79.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified