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distale artrogrypose type 2A (aandoening)
distale artrogrypose type 2A
Freeman-Sheldon-syndroom
syndroom van Freeman-Sheldon
Freeman-Sheldon syndrome
Distal arthrogryposis type 2A
Whistling face syndrome
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.
Id52616002
StatusPrimitive
Associated morphologycontractuur
Finding sitestructuur van gewrichtsregio
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationverlaagd
Interprets'range of motion' van gewricht
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map2053
SNOMED CT to ICD-10 extended map
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0
CorrelationSNOMED CT source code to target map code correlation not specified