dysostosis craniofacialis hereditaria (aandoening)
dysostosis craniofacialis hereditaria
ziekte van Crouzon
syndroom van Crouzon
Dit is een stoornis bij de skeletvorming met als kenmerken schedelmisvormingen, een vergrote afstand tussen de ogen en uitpuilende ogen.
Crouzon syndrome
Crouzon's disease
Crouzon craniofacial dysostosis
Disease with characteristics of craniosynostosis and facial hypoplasia. Craniosynostosis is variable but many sutures are usually involved. Facial anomalies include ocular hypertelorism, small beaked nose, proptosis, exophthalmos, hypoplastic maxilla and mandibular prognathism. Caused by mutations of the fibroblast growth factor receptor FGFR2 (10q25.3-q26) with 80% being located to the immunoglobulin (Ig)-like domain III (IgIII domain) of the extracellular region and an additional 20% of mutations being located in the IgI-IgII domains, transmembrane and tyrosine kinase regions. The disease is transmitted in an autosomal dominant manner with variable penetrance.
Associated morphologyPremature fusion
Finding sitestructuur van sutura cranii
Pathological processproces van pathologische ontwikkeling
PALGA thesaurus simple reference set for pathology
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermCraniofaciale dysostose
SNOMED CT to Orphanet simple map207
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q75.1
CorrelationSNOMED CT source code to target map code correlation not specified