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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 with characteristics of skeletal densification that predominantly involves the cranial vault. The disease typically has onset in late childhood or adolescence. Clinical signs include chronic bone pain and disorders of the cranial nerves (trigeminal neuralgia, facial palsy, hearing loss). The disease is due to a gain-of-function mutation in the LRP5 gene (Low density lipoprotein receptor-related protein 5; 11q12-q13) that results in increased bone formation. Transmission is autosomal dominant.
Id1264041000
StatusPrimitive
Clinical courseprogressief
Associated morphologyosteosclerose
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
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