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autosomaal dominante osteopetrose type 1 (aandoening)
autosomaal dominante osteopetrose type 1
Autosomal dominant osteopetrosis type 1
A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
Id1264041000
StatusPrimitive
Clinical courseprogressief
Associated morphologyosteosclerose
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map2783
SNOMED CT to ICD-10 extended map
TargetQ78.2
RuleTRUE
AdviceALWAYS Q78.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified