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craniofrontonasale dysplasie (aandoening)
craniofrontonasale dysplasie
CFNS
craniofrontonasaal syndroom
CFND
Craniofrontonasal dysplasia
Craniofrontonasal syndrome
An X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair).
Id715421009
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van aangezicht
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur van cranium
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ75.8
TermOverige gespecificeerde congenitale misvormingen van schedel- en aangezichtsbeenderen
SNOMED CT to Orphanet simple map1520
SNOMED CT to ICD-10 extended map
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0
CorrelationSNOMED CT source code to target map code correlation not specified