dysplasie met verminderde botdichtheid
genetische aandoening
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syndroom van botfragiliteit, craniosynostose, proptose en hydrocefalie (aandoening)
syndroom van botfragiliteit, craniosynostose, proptose en hydrocefalie
syndroom van Cole-Carpenter
syndroom van botfragiliteit, craniosynostose, proptose en hydrocephalus
Cole-Carpenter-syndroom
Cole-Carpenter dysplasia
Cole Carpenter syndrome
Bone fragility, craniosynostosis, proptosis, hydrocephalus syndrome
Id389199001
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationonder referentiebereik
Interpretsbotdensitometrie
SNOMED CT to Orphanet simple map2050
SNOMED CT to ICD-10 extended map
TargetQ78.0
RuleTRUE
AdviceALWAYS Q78.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified