autosomaal dominante hereditaire aandoening
congenitale spondylo-epifysaire dysplasie
dwerggroei
hereditaire aandoening van bewegingsapparaat
hereditaire ontwikkelingsstoornis
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spondylo-epifysaire dysplasie Reardon-type (aandoening)
spondylo-epifysaire dysplasie Reardon-type
Spondyloepiphyseal dysplasia Reardon type
Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.
Id718764004
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Interpretsmeetbare observatie betreffende lengte en/of groei
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 map163662
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