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fibroblastgroeifactorreceptor 2-gerelateerde 'bent bone'-dysplasie (aandoening)
fibroblastgroeifactorreceptor 2-gerelateerde 'bent bone'-dysplasie
FGFR2-gerelateerde 'bent bone dysplasia'
FGFR2-related bent bone dysplasia
Fibroblast growth factor receptor 2-related bent bone dysplasia
Perinatal lethal bent bone dysplasia
A rare genetic lethal primary bone dysplasia with characteristics of dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophthalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis and bent long bones (particularly involving the femora). Caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoesis may also be associated.
Id778008009
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosethesaurus-referentieset
referentieset met complexe door RIVM geautoriseerde nationale 'mapping' naar ICD-10 voor diagnosethesaurus
TargetQ87.5
TermOverige congenitale gestoorde-ontwikkelingssyndromen met overige skeletveranderingen
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.5
RuleTRUE
AdviceALWAYS Q87.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified