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chondrodysplasia punctata Toriello-type (aandoening)
chondrodysplasia punctata Toriello-type
syndroom van Toriello-Higgins-Miller
Chondrodysplasia punctata Toriello type
Toriello Higgins Miller syndrome
Chondrodysplasia punctata syndrome with stippled epiphyses, mild facial anomalies, short stature, and ocular colobomata. Congenital heart disease and central nervous system anomalies are also reported.
Id715631005
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ77.3
TermChondrodysplasia punctata
SNOMED CT to Orphanet simple map79347
SNOMED CT to ICD-10 extended map
TargetQ77.3
RuleTRUE
AdviceALWAYS Q77.3
CorrelationSNOMED CT source code to target map code correlation not specified