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Crouzon syndrome with acanthosis nigricans (disorder)
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.
Crouzon-syndroom met acanthosis nigricans
crouzonodermoskeletaal syndroom
CAN
syndroom van Crouzon met acanthosis nigricans
Id702361006
StatusPrimitive
Has interpretationAbnormal
InterpretsKeratinization
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ75.1
RuleTRUE
AdviceALWAYS Q75.1
CorrelationSNOMED CT source code to target map code correlation not specified