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Native American myopathy (disorder)
Native American myopathy
Congenital myopathy, cleft palate. malignant hyperthermia syndrome
A neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia. Reported exclusively in Native American Indians (Lumbee Indian population of North Carolina). Within this population, the prevalence is estimated at approximately 1:5,000. The locus has been localized to 12q13.13-14.1. The disease is transmitted in an autosomal recessive manner.
Noord-Amerikaanse myopathie
syndroom van congenitale myopathie, palatoschisis en maligne hyperthermie
syndroom van congenitale myopathie, gespleten gehemelte en maligne hyperthermie
Id723439002
StatusPrimitive
Associated morphologyDevelopmental failure of fusion
Finding sitePalatal structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG71.2
RuleTRUE
AdviceALWAYS G71.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified