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Crouzon-syndroom met acanthosis nigricans (aandoening)
Crouzon-syndroom met acanthosis nigricans
syndroom van Crouzon met acanthosis nigricans
crouzonodermoskeletaal syndroom
CAN
Crouzon syndrome with acanthosis nigricans
Crouzonodermoskeletal syndrome
A distinct form of Crouzon disease associated with acanthosis nigricans caused by a specific mutation (p.Ala391Glu) in the transmembrane domain of FGFR3. The disease is transmitted in an autosomal dominant manner with variable penetrance.
Id702361006
StatusPrimitive
Has interpretationafwijkend
Interpretskeratinisatie
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ75.1
TermCraniofaciale dysostose
SNOMED CT to Orphanet simple map93262
SNOMED CT to ICD-10 extended map
TargetQ75.1
RuleTRUE
AdviceALWAYS Q75.1
CorrelationSNOMED CT source code to target map code correlation not specified