autosomaal dominante hereditaire aandoening
congenitale spondylo-epifysaire dysplasie
hereditaire aandoening van bewegingsapparaat
hereditaire ontwikkelingsstoornis
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spondylo-epifysaire dysplasie Kimberley-type (aandoening)
spondylo-epifysaire dysplasie Kimberley-type
Spondyloepiphyseal dysplasia Kimberley type
Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.
Id719203001
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ77.7
TermSpondylo-epifysaire dysplasie
SNOMED CT to Orphanet simple map93283
SNOMED CT to ICD-10 extended map
TargetQ77.7
RuleTRUE
AdviceALWAYS Q77.7 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified