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Noord-Amerikaanse myopathie (aandoening)
Noord-Amerikaanse myopathie
syndroom van congenitale myopathie, gespleten gehemelte en maligne hyperthermie
syndroom van congenitale myopathie, palatoschisis en maligne hyperthermie
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.
Id723439002
StatusPrimitive
Associated morphologyfusiedefect
Finding sitestructuur van palatum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG71.2
TermCongenitale myopathie├źn
SNOMED CT to Orphanet simple map168572
SNOMED CT to ICD-10 extended map
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