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syndroom van spondylo-epimetafysaire dysplasie en abnormale dentitie (aandoening)
syndroom van spondylo-epimetafysaire dysplasie en abnormale dentitie
syndroom van SEMD en abnormale dentitie
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome
A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.
Id773302000
StatusPrimitive
Associated morphologyafwezigheid
Finding sitestructuur van gebitselementen
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 map168451
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