autosomaal recessieve hereditaire aandoening
dentinedysplasie
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atypische dentinedysplasie door 'SPARC related modular calcium binding 2'-deficiëntie (aandoening)
atypische dentinedysplasie door SMOC2-deficiëntie
atypische dentinedysplasie door 'SPARC related modular calcium binding 2'-deficiëntie
Atypical dentin dysplasia due to SMOC2 deficiency
Dentin dysplasia type 1 with microdontia and shape anomalies
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency
A rare genetic dentin dysplasia disease with characteristics of extreme microdontia, oligodontia and abnormal tooth shape (including globular teeth, incisal notches and double tooth formation). Short roots with a variable pulp phenotype (including taurodontia and flame-shaped pulp) enamel hypoplasia and anterior open bite may also be associated. Caused by homozygous mutation in the SMOC2 gene on chromosome 6q27.
Id783059004
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van dentine
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map314721
SNOMED CT to ICD-10 extended map
TargetK00.5
RuleTRUE
AdviceALWAYS K00.5
CorrelationSNOMED CT source code to target map code correlation not specified