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syndroom van nefrogene diabetes insipidus en intracraniële calcificatie (aandoening)
syndroom van nefrogene diabetes insipidus en intracraniële calcificatie
syndroom van Schofer-Beetz-Bohl
Schofer Beetz Bohl syndrome
Nephrogenic diabetes insipidus and intracranial calcification syndrome
This syndrome has characteristics of nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism. It has been described in two siblings.
Id716200002
StatusPrimitive
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetN25.1
TermNefrogene diabetes insipidus
TargetG93.8
TermOverige gespecificeerde hersenaandoeningen
SNOMED CT to Orphanet simple map3145
SNOMED CT to ICD-10 extended map
TargetN25.1
RuleTRUE
AdviceALWAYS N25.1
CorrelationSNOMED CT source code to target map code correlation not specified
TargetG93.8
RuleTRUE
AdviceALWAYS G93.8
CorrelationSNOMED CT source code to target map code correlation not specified