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syndroom van frontofacionasale dysplasie (aandoening)
syndroom van frontofacionasale dysplasie
syndroom van Gollop
Gollop syndrome
Frontofacionasal dysplasia syndrome
Fronto-facio-nasal dysplasia
A rare genetic disease characterized by variable multiple congenital craniofacial anomalies, including brachycephaly, cranium bifidum occultum, hypertelorism, midface hypoplasia, nasal hypoplasia, or cleft lip/palate, among others, as well as abnormalities of the eyes and eyelids. Encephalocele and spina bifida have also been reported in association.
Id716022002
StatusPrimitive
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 map1791
SNOMED CT to ICD-10 extended map
TargetQ75.8
RuleTRUE
AdviceALWAYS Q75.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified