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syndroom van craniosynostose, Dandy-Walker-malformatie en hydrocefalie (aandoening)
syndroom van craniosynostose, Dandy-Walker-malformatie en hydrocefalie
syndroom van craniosynostose, Dandy-Walker-malformatie en hydrocephalus
syndroom van Braddock-Jones-Superneau
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome
Braddock Jones Superneau syndrome
A malformation disorder with characteristics of sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant.
Id720813007
StatusPrimitive
Associated morphologyhypoplasie
Finding sitestructuur van vermis cerebelli
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologypremature fusie
Finding sitestructuur van sutura cranii
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ75.0
TermCraniosynostose
TargetQ03.1
TermAtresie van foramina van Magendie en Luschka
SNOMED CT to Orphanet simple map1538
SNOMED CT to ICD-10 extended map
TargetQ75.0
RuleTRUE
AdviceALWAYS Q75.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ03.1
RuleTRUE
AdviceALWAYS Q03.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified