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familiale omfalocelesyndroom met faciale dysmorfie (aandoening)
familiale omfalocelesyndroom met faciale dysmorfie
Familial omphalocele syndrome with facial dysmorphism
A rare genetic developmental defect during embryogenesis with characteristics of omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands.
Id770900000
StatusPrimitive
Associated morphologybreukpoort
Finding sitestructuur van umbilicus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyprotrusie
Finding sitestructuur van intestinum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.8
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map280403
SNOMED CT to ICD-10 extended map
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified