autosomaal recessieve hereditaire aandoening
congenitale vergroting van fontanel
dwerggroei
hereditaire aandoening van bewegingsapparaat
hereditaire ontwikkelingsstoornis
hypertelorisme
malformatiesyndroom met betrokkenheid van meerdere systemen
skeletdysplasie
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cranio-lenticulo-suturale dysplasie (aandoening)
cranio-lenticulo-suturale dysplasie
syndroom van Boyadjiev-Jabs
Craniolenticulosutural dysplasia
Boyadjiev Jabs syndrome
Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.
Id725100001
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van os sphenoidale
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyvergroting
Finding sitegehele fonticulus cranii
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Interpretsmeetbare observatie betreffende lengte en/of groei
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 map50814
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