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syndroom van maligne hyperthermie, artrogrypose en torticollis (aandoening)
syndroom van maligne hyperthermie, artrogrypose en torticollis
syndroom van multipele pterygium en maligne hyperthermie
syndroom van Froster-Iskenius-Waterson-Hall
Malignant hyperthermia with arthrogryposis and torticollis syndrome
Froster Iskenius Waterson syndrome
An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date with the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988.
Id719398004
StatusPrimitive
Associated morphologycontractuur
Finding sitestructuur van skeletspier van hals
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologycontractuur
Finding sitestructuur van gewrichtsregio
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationverlaagd
Interprets‘range of motion’ van gewricht
Has interpretationboven referentiebereik
Interpretslichaamstemperatuur
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified