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distale artrogrypose type 2B (aandoening)
distale artrogrypose type 2B
syndroom van Sheldon-Hall
Freeman-Sheldon-syndroomvariant
Sheldon-Hall-syndroom
Sheldon-Hall syndrome
Distal arthrogryposis type 2B
Freeman-Sheldon syndrome variant
Rare multiple congenital contracture syndrome characterized by contractures of distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.
Id715216008
StatusPrimitive
Associated morphologycontractuur
Finding sitestructuur van gewrichtsregio
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationverlaagd
Interprets'range of motion' van gewricht
SNOMED CT to Orphanet simple map1147
SNOMED CT to ICD-10 extended map
TargetQ68.8
RuleTRUE
AdviceALWAYS Q68.8
CorrelationSNOMED CT source code to target map code correlation not specified