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osteosclerotische metafysaire dysplasie (aandoening)
osteosclerotische metafysaire dysplasie
Osteosclerotic metaphyseal dysplasia
A rare primary bone dysplasia characterized by osteosclerosis localized predominantly to the metaphyses and epiphyseal margins of the appendicular bones and metaphyseal equivalents of the axial bones, as well as the vertebral endplates, costal ends and margins of the flat bones. The skull is usually unaffected. The condition is associated with developmental delay and hypotonia. Seizures and spastic paraplegia have also been reported. Serum alkaline phosphatase and urinary pyridinoline and deoxypyridinoline levels may be elevated.
Id1237513008
StatusPrimitive
Clinical courseprogressief
Associated morphologyosteosclerose
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van metafyse
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to ICD-10 extended map
TargetQ78.5
RuleTRUE
AdviceALWAYS Q78.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified