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Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
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.
syndroom van maligne hyperthermie, artrogrypose en torticollis
syndroom van multipele pterygium en maligne hyperthermie
syndroom van Froster-Iskenius-Waterson-Hall
Id719398004
StatusPrimitive
Associated morphologyContracture
Finding siteStructure of joint region
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationAbove reference range
InterpretsBody temperature
Associated morphologyContracture
Finding siteSkeletal muscle structure of neck
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationDecreased
InterpretsRange of joint movement
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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