Autosomal dominant hereditary disorder
Developmental hereditary disorder
Hereditary disorder of musculoskeletal system
Spondyloepiphyseal dysplasia congenita
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Spondyloepiphyseal dysplasia Kimberley type (disorder)
Spondyloepiphyseal dysplasia Kimberley type
Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.
Id719203001
StatusPrimitive
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ77.7
TermSpondylo-epifysaire dysplasie
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