enchondromatose
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dysspondylo-enchondromatose (aandoening)
dysspondylo-enchondromatose
Dysspondyloenchondromatosis
Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.
Id722434004
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van cartilago
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map85198
SNOMED CT to ICD-10 extended map
TargetQ78.4
RuleTRUE
AdviceALWAYS Q78.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified